#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
PRDM16	63976	broad.mit.edu	37	1	3319429	3319429	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:3319429T>G	ENST00000270722.5	+	6	800	c.751T>G	c.(751-753)Tac>Gac	p.Y251D	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.Y252D|PRDM16_ENST00000378391.2_Missense_Mutation_p.Y251D|PRDM16_ENST00000442529.2_Missense_Mutation_p.Y251D|PRDM16_ENST00000378398.3_Missense_Mutation_p.Y252D|PRDM16_ENST00000514189.1_Missense_Mutation_p.Y252D|PRDM16_ENST00000441472.2_Missense_Mutation_p.Y251D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	251					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCATAAGAAGTACACGTGTGG	0.637			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(751-753)TAC>GAC		PR domain containing 16 isoform 1							52.0	63.0	59.0					1																	3319429		2138	4249	6387	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3319429T>G	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.751T>G	1.37:g.3319429T>G	ENSP00000270722:p.Tyr251Asp					PRDM16_uc001akc.2_Missense_Mutation_p.Y251D|PRDM16_uc001akd.2_Missense_Mutation_p.Y251D|PRDM16_uc001ake.2_Missense_Mutation_p.Y251D|PRDM16_uc009vlh.2_5'UTR	p.Y251D	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	6	831	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	251			C2H2-type 1; atypical.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.751T>G	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	t	21.5	4.157491	0.78114	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	4.31	4.31	0.51392	Zinc finger, C2H2 (1);	0.374264	0.18590	U	0.136753	T	0.43964	0.1271	L	0.33624	1.015	0.51482	D	0.999926	D;D;D;D	0.89917	1.0;0.958;0.985;0.973	D;P;P;P	0.81914	0.995;0.563;0.889;0.838	T	0.41179	-0.9523	10	0.87932	D	0	.	13.1141	0.59289	0.0:0.0:0.0:1.0	.	251;251;251;251	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	D	252;252;251;251;251;252;251;67;67;60	ENSP00000426975:Y252D;ENSP00000367651:Y252D;ENSP00000407968:Y251D;ENSP00000405253:Y251D;ENSP00000367643:Y251D;ENSP00000421400:Y252D;ENSP00000270722:Y251D;ENSP00000422504:Y67D;ENSP00000425796:Y60D	ENSP00000270722:Y251D	Y	+	1	0	PRDM16	3309289	1.000000	0.71417	0.987000	0.45799	0.607000	0.37147	7.805000	0.86005	1.582000	0.49881	0.454000	0.30748	TAC		0.637	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		49	33	0	0	0	0	49	33				
CCDC27	148870	broad.mit.edu	37	1	3679735	3679735	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:3679735G>T	ENST00000294600.2	+	7	1102	c.1018G>T	c.(1018-1020)Gac>Tac	p.D340Y		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	340	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TGGCGAGGAGGACGAGGGCCT	0.682																																						uc001akv.2		NA																	0				skin(1)	1						c.(1018-1020)GAC>TAC		coiled-coil domain containing 27							41.0	40.0	40.0					1																	3679735		2183	4283	6466	SO:0001583	missense	148870							g.chr1:3679735G>T		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1018G>T	1.37:g.3679735G>T	ENSP00000294600:p.Asp340Tyr						p.D340Y	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	7	1099	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	340			Glu-rich.		Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.1018G>T	CCDS50.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081922	0.36758	.	.	ENSG00000162592	ENST00000294600	T	0.19806	2.12	3.68	1.72	0.24424	.	1.974940	0.02488	N	0.089173	T	0.18923	0.0454	N	0.14661	0.345	0.09310	N	1	D	0.55605	0.972	P	0.49047	0.599	T	0.13442	-1.0509	10	0.62326	D	0.03	-1.8395	4.8432	0.13501	0.1212:0.2216:0.6573:0.0	.	340	Q2M243	CCD27_HUMAN	Y	340	ENSP00000294600:D340Y	ENSP00000294600:D340Y	D	+	1	0	CCDC27	3669595	0.231000	0.23751	0.018000	0.16275	0.032000	0.12392	1.120000	0.31271	0.504000	0.28082	0.462000	0.41574	GAC		0.682	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		3	0	1	0	0.004672	0.00669548	3	0				
CEP104	9731	broad.mit.edu	37	1	3754057	3754057	+	Silent	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:3754057G>C	ENST00000378230.3	-	9	1242	c.918C>G	c.(916-918)ctC>ctG	p.L306L	CEP104_ENST00000460038.1_5'Flank	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	306						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CGAGGGGCTGGAGGGGCAAAT	0.458																																						uc001aky.2		NA																	0					0						c.(916-918)CTC>CTG		glycine-, glutamate-,							61.0	66.0	65.0					1																	3754057		2203	4300	6503	SO:0001819	synonymous_variant	9731					centriole	binding	g.chr1:3754057G>C	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.918C>G	1.37:g.3754057G>C						KIAA0562_uc010nzm.1_RNA|KIAA0562_uc001akz.2_Silent_p.L306L	p.L306L	NM_014704	NP_055519	O60308	CE104_HUMAN		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)	9	1277	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)	306					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Silent	SNP	ENST00000378230.3	37	c.918C>G	CCDS30571.1																																																																																				0.458	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		22	27	0	0	0	0	22	27				
MASP2	10747	broad.mit.edu	37	1	11090242	11090242	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:11090242A>T	ENST00000400897.3	-	10	1303	c.1288T>A	c.(1288-1290)Tgt>Agt	p.C430S	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	430	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CCAGGCTCACAGACTGGGAGT	0.438																																					GBM(35;611 746 20780 22741 36496)	uc001aru.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1288-1290)TGT>AGT		mannan-binding lectin serine protease 2 isoform							116.0	111.0	113.0					1																	11090242		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11090242A>T	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1288T>A	1.37:g.11090242A>T	ENSP00000383690:p.Cys430Ser						p.C430S	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	10	1309	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	430			Sushi 2.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1288T>A	CCDS123.1	.	.	.	.	.	.	.	.	.	.	A	18.36	3.607717	0.66558	.	.	ENSG00000009724	ENST00000400897	D	0.98747	-5.11	5.63	5.63	0.86233	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.95712	3.71	0.80722	D	1	D	0.61080	0.989	P	0.62560	0.904	D	0.98727	1.0711	10	0.87932	D	0	.	15.5059	0.75739	1.0:0.0:0.0:0.0	.	430	O00187	MASP2_HUMAN	S	430	ENSP00000383690:C430S	ENSP00000383690:C430S	C	-	1	0	MASP2	11012829	1.000000	0.71417	0.996000	0.52242	0.682000	0.39822	6.070000	0.71220	2.149000	0.67028	0.533000	0.62120	TGT		0.438	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610		45	33	0	0	0	0	45	33				
HNRNPCL1	343069	broad.mit.edu	37	1	12908094	12908094	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:12908094G>C	ENST00000317869.6	-	2	274	c.49C>G	c.(49-51)Cgt>Ggt	p.R17G		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	17	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ATGAACACACGGGAGTTCATG	0.463																																						uc009vno.2		NA																	0					0						c.(49-51)CGT>GGT		heterogeneous nuclear ribonucleoprotein C-like							189.0	176.0	181.0					1																	12908094		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12908094G>C	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.49C>G	1.37:g.12908094G>C	ENSP00000365370:p.Arg17Gly					HNRNPCL1_uc010obf.1_Missense_Mutation_p.R17G	p.R17G	NM_001146181	NP_001139653	B7ZW38	B7ZW38_HUMAN			1	144	-			17					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.49C>G	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153367	0.38021	.	.	ENSG00000179172	ENST00000317869	T	0.47528	0.84	1.09	0.0883	0.14454	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.295460	0.32655	U	0.005818	T	0.66317	0.2777	H	0.96970	3.915	0.40495	D	0.980585	P	0.49307	0.922	P	0.53185	0.72	T	0.66795	-0.5833	10	0.87932	D	0	.	5.264	0.15589	0.2298:0.0:0.7702:0.0	.	17	O60812	HNRCL_HUMAN	G	17	ENSP00000365370:R17G	ENSP00000365370:R17G	R	-	1	0	HNRNPCL1	12830681	0.978000	0.34361	0.515000	0.27774	0.487000	0.33371	2.125000	0.42016	0.038000	0.15604	0.416000	0.27883	CGT		0.463	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631		33	111	0	0	0	0	33	111				
TAS1R2	80834	broad.mit.edu	37	1	19168324	19168324	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:19168324T>A	ENST00000375371.3	-	5	1511	c.1490A>T	c.(1489-1491)aAg>aTg	p.K497M		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	497					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTGGCACCTCTTGGAACACAT	0.587																																						uc001bba.1		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1489-1491)AAG>ATG		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						119.0	101.0	107.0					1																	19168324		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19168324T>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1490A>T	1.37:g.19168324T>A	ENSP00000364520:p.Lys497Met						p.K497M	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	1491	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	497			Extracellular (Potential).		Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.1490A>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.662030	0.47572	.	.	ENSG00000179002	ENST00000375371	D	0.90324	-2.65	5.19	2.84	0.33178	GPCR, family 3, nine cysteines domain (1);	0.329563	0.25701	N	0.028866	D	0.91002	0.7170	L	0.41906	1.305	0.09310	N	0.999992	D	0.76494	0.999	D	0.66716	0.946	T	0.83068	-0.0144	10	0.59425	D	0.04	.	8.2507	0.31715	0.0:0.169:0.0:0.831	.	497	Q8TE23	TS1R2_HUMAN	M	497	ENSP00000364520:K497M	ENSP00000364520:K497M	K	-	2	0	TAS1R2	19040911	0.000000	0.05858	0.955000	0.39395	0.710000	0.40934	-0.073000	0.11468	0.298000	0.22638	0.459000	0.35465	AAG		0.587	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			25	75	0	0	0	0	25	75				
UBR4	23352	broad.mit.edu	37	1	19428082	19428082	+	Missense_Mutation	SNP	G	G	T	rs542127049		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:19428082G>T	ENST00000375254.3	-	88	12982	c.12955C>A	c.(12955-12957)Cgc>Agc	p.R4319S	UBR4_ENST00000375226.2_Missense_Mutation_p.R4295S|UBR4_ENST00000543981.1_Missense_Mutation_p.R10S|UBR4_ENST00000375217.2_Missense_Mutation_p.R4312S|UBR4_ENST00000375267.2_Missense_Mutation_p.R4319S|UBR4_ENST00000375224.1_Missense_Mutation_p.R26S|UBR4_ENST00000429347.2_5'Flank|UBR4_ENST00000467272.2_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4319					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGATTGTAGCGCTTGGCTGTC	0.527																																						uc001bbi.2		NA																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(12955-12957)CGC>AGC		retinoblastoma-associated factor 600							141.0	124.0	130.0					1																	19428082		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19428082G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12955C>A	1.37:g.19428082G>T	ENSP00000364403:p.Arg4319Ser					UBR4_uc010ocv.1_5'Flank|UBR4_uc009vph.2_5'Flank|UBR4_uc010ocw.1_Missense_Mutation_p.R10S|UBR4_uc001bbg.2_Missense_Mutation_p.R30S|UBR4_uc001bbh.2_Missense_Mutation_p.R28S	p.R4319S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	88	12959	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4319					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.12955C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018421	0.75275	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000543981	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;1.52;1.51	5.64	5.64	0.86602	.	0.108387	0.64402	D	0.000005	T	0.69628	0.3132	L	0.34521	1.04	0.80722	D	1	D;D;D	0.63046	0.987;0.987;0.992	D;D;D	0.70487	0.931;0.931;0.969	T	0.65393	-0.6179	10	0.34782	T	0.22	.	16.5532	0.84477	0.0:0.0:1.0:0.0	.	10;4319;4295	B4DYV5;Q5T4S7;Q5T4S7-3	.;UBR4_HUMAN;.	S	4319;4319;4312;4295;26;10	ENSP00000364403:R4319S;ENSP00000364416:R4319S;ENSP00000364365:R4312S;ENSP00000364374:R4295S;ENSP00000364372:R26S;ENSP00000444070:R10S	ENSP00000364365:R4312S	R	-	1	0	UBR4	19300669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.338000	0.79269	2.937000	0.99478	0.650000	0.86243	CGC		0.527	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		37	79	1	0	2.87e-16	5.64e-16	37	79				
PINK1	65018	broad.mit.edu	37	1	20977105	20977105	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:20977105T>A	ENST00000321556.4	+	8	1761	c.1667T>A	c.(1666-1668)aTg>aAg	p.M556K	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	556					activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAAATGAAGATGCTCTTTCTG	0.542																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	uc001bdm.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1666-1668)ATG>AAG		PTEN induced putative kinase 1 precursor							81.0	72.0	75.0					1																	20977105		2203	4300	6503	SO:0001583	missense	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20977105T>A	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1667T>A	1.37:g.20977105T>A	ENSP00000364204:p.Met556Lys					PINK1_uc001bdn.2_Missense_Mutation_p.M249K	p.M556K	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1761	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	556			Cytoplasmic (Potential).		Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	ENST00000321556.4	37	c.1667T>A	CCDS211.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222490	0.58668	.	.	ENSG00000158828	ENST00000321556	T	0.73469	-0.75	5.95	4.76	0.60689	.	0.329961	0.39909	N	0.001239	T	0.66925	0.2839	L	0.54323	1.7	0.43007	D	0.994536	B;B	0.27450	0.028;0.179	B;B	0.24974	0.034;0.057	T	0.67511	-0.5652	10	0.51188	T	0.08	-13.2161	8.7322	0.34505	0.1684:0.0:0.0:0.8316	.	249;556	Q9BXM7-2;Q9BXM7	.;PINK1_HUMAN	K	556	ENSP00000364204:M556K	ENSP00000364204:M556K	M	+	2	0	PINK1	20849692	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.533000	0.36040	2.279000	0.76181	0.402000	0.26972	ATG		0.542	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		32	23	0	0	0	0	32	23				
EPHA8	2046	broad.mit.edu	37	1	22919856	22919856	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:22919856G>A	ENST00000166244.3	+	6	1425	c.1353G>A	c.(1351-1353)gcG>gcA	p.A451A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	451	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGAGCGGGCGGGGCAGACCA	0.657																																						uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1351-1353)GCG>GCA		ephrin receptor EphA8 isoform 1 precursor							14.0	14.0	14.0					1																	22919856		2182	4292	6474	SO:0001819	synonymous_variant	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22919856G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1353G>A	1.37:g.22919856G>A							p.A451A	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	6	1478	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	451			Extracellular (Potential).|Fibronectin type-III 2.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Silent	SNP	ENST00000166244.3	37	c.1353G>A	CCDS225.1																																																																																				0.657	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		3	3	0	0	0	0	3	3				
EPHA8	2046	broad.mit.edu	37	1	22927255	22927255	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:22927255G>T	ENST00000166244.3	+	14	2562	c.2490G>T	c.(2488-2490)gaG>gaT	p.E830D		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	830	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCATGTGGGAGGTGCTGGCCT	0.682																																						uc001bfx.1		NA																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(2488-2490)GAG>GAT		ephrin receptor EphA8 isoform 1 precursor							85.0	91.0	89.0					1																	22927255		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22927255G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2490G>T	1.37:g.22927255G>T	ENSP00000166244:p.Glu830Asp						p.E830D	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2615	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	830			Cytoplasmic (Potential).|Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2490G>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	g	21.2	4.120065	0.77323	.	.	ENSG00000070886	ENST00000166244	D	0.94457	-3.43	4.92	2.95	0.34219	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98052	0.9358	H	0.98370	4.215	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.97075	0.9780	10	0.87932	D	0	.	9.3333	0.38034	0.1858:0.0:0.8142:0.0	.	830	P29322	EPHA8_HUMAN	D	830	ENSP00000166244:E830D	ENSP00000166244:E830D	E	+	3	2	EPHA8	22799842	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.231000	0.51294	0.603000	0.29913	-0.376000	0.06991	GAG		0.682	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		55	45	1	0	6.61e-23	1.37e-22	55	45				
C1QB	713	broad.mit.edu	37	1	22987522	22987522	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:22987522C>A	ENST00000314933.6	+	3	537	c.405C>A	c.(403-405)cgC>cgA	p.R135R	C1QB_ENST00000509305.1_Silent_p.R133R	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	135	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	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)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCCCCTGCGCCGGGACCAGA	0.592																																						uc001bgd.2		NA																	0				breast(1)	1						c.(403-405)CGC>CGA		complement component 1, q subcomponent, B chain	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)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						129.0	120.0	123.0					1																	22987522		2203	4300	6503	SO:0001819	synonymous_variant	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987522C>A	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.405C>A	1.37:g.22987522C>A							p.R135R	NM_000491	NP_000482	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	537	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	135			C1q.		Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	c.405C>A	CCDS228.1																																																																																				0.592	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491		63	50	1	0	5.11e-33	1.08e-32	63	50				
EPHB2	2048	broad.mit.edu	37	1	23234658	23234658	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:23234658C>A	ENST00000400191.3	+	12	2367	c.2349C>A	c.(2347-2349)gcC>gcA	p.A783A	EPHB2_ENST00000374632.3_Silent_p.A784A|EPHB2_ENST00000374627.1_Silent_p.A778A|EPHB2_ENST00000374630.3_Silent_p.A783A	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	783	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACACCAGTGCCCTGGTAAGAT	0.552																																						uc009vqj.1		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(2347-2349)GCC>GCA		ephrin receptor EphB2 isoform 1 precursor							64.0	56.0	59.0					1																	23234658		2203	4300	6503	SO:0001819	synonymous_variant	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23234658C>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2349C>A	1.37:g.23234658C>A						EPHB2_uc001bge.2_Silent_p.A784A|EPHB2_uc001bgf.2_Silent_p.A783A|EPHB2_uc010odu.1_Silent_p.A725A	p.A783A	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	12	2494	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	783			Cytoplasmic (Potential).|Protein kinase.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.2349C>A																																																																																					0.552	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		24	22	1	0	9.96e-16	1.94e-15	24	22				
E2F2	1870	broad.mit.edu	37	1	23857277	23857277	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:23857277T>A	ENST00000361729.2	-	1	435	c.9A>T	c.(7-9)caA>caT	p.Q3H		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	3					intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|lens fiber cell apoptotic process (GO:1990086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CCCGGGGCCCTTGCAGCATAG	0.721																																						uc001bhe.1		NA																	0				ovary(2)|skin(2)	4						c.(7-9)CAA>CAT		E2F transcription factor 2							3.0	5.0	4.0					1																	23857277		1991	4036	6027	SO:0001583	missense	1870				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:23857277T>A	L22846	CCDS236.1	1p36	2008-02-05			ENSG00000007968	ENSG00000007968			3114	protein-coding gene	gene with protein product		600426				8246995, 8246996	Standard	NM_004091		Approved	E2F-2	uc001bhe.2	Q14209	OTTHUMG00000003223	ENST00000361729.2:c.9A>T	1.37:g.23857277T>A	ENSP00000355249:p.Gln3His						p.Q3H	NM_004091	NP_004082	Q14209	E2F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)	1	437	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	3					B2R9W1|Q7Z6H1	Missense_Mutation	SNP	ENST00000361729.2	37	c.9A>T	CCDS236.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681214	0.29872	.	.	ENSG00000007968	ENST00000361729	T	0.08282	3.11	4.32	-1.68	0.08212	.	1.160410	0.07124	U	0.844433	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B	0.28512	0.214	B	0.28784	0.094	T	0.44298	-0.9337	10	0.66056	D	0.02	-3.5257	6.2481	0.20830	0.0:0.4552:0.2381:0.3066	.	3	Q14209	E2F2_HUMAN	H	3	ENSP00000355249:Q3H	ENSP00000355249:Q3H	Q	-	3	2	E2F2	23729864	0.000000	0.05858	0.280000	0.24747	0.407000	0.30961	-0.856000	0.04290	-0.180000	0.10637	-0.441000	0.05720	CAA		0.721	E2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008885.1	NM_004091		9	7	0	0	0	0	9	7				
ARID1A	8289	broad.mit.edu	37	1	27089589	27089589	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:27089589C>T	ENST00000324856.7	+	8	2916	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S	ARID1A_ENST00000374152.2_Missense_Mutation_p.P466S|ARID1A_ENST00000457599.2_Missense_Mutation_p.P849S|RN7SL501P_ENST00000578818.1_RNA	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	849					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGGCATCCCACCTTATGGCAC	0.587			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(2545-2547)CCT>TCT		AT rich interactive domain 1A isoform a							95.0	74.0	81.0					1																	27089589		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27089589C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.2545C>T	1.37:g.27089589C>T	ENSP00000320485:p.Pro849Ser					ARID1A_uc001bmt.1_Missense_Mutation_p.P849S|ARID1A_uc001bmu.1_Missense_Mutation_p.P849S|ARID1A_uc001bmw.1_Missense_Mutation_p.P466S	p.P849S	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	8	2918	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	849					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.2545C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296935	0.60086	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.03065	4.33;4.06;4.13	5.65	5.65	0.86999	.	0.109289	0.64402	D	0.000005	T	0.09949	0.0244	M	0.63843	1.955	0.80722	D	1	P;P;P	0.52316	0.919;0.952;0.919	B;P;B	0.46659	0.324;0.523;0.395	T	0.00461	-1.1725	10	0.62326	D	0.03	-6.0359	19.9142	0.97043	0.0:1.0:0.0:0.0	.	849;849;503	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	S	849;849;466	ENSP00000320485:P849S;ENSP00000387636:P849S;ENSP00000363267:P466S	ENSP00000320485:P849S	P	+	1	0	ARID1A	26962176	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	4.391000	0.59652	2.941000	0.99782	0.655000	0.94253	CCT		0.587	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		17	43	0	0	0	0	17	43				
CSMD2	114784	broad.mit.edu	37	1	34180246	34180246	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:34180246C>A	ENST00000373381.4	-	21	3523	c.3347G>T	c.(3346-3348)cGc>cTc	p.R1116L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1076	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCACGTGATGCGGGCGGTGCC	0.627																																						uc001bxn.1		NA																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(3226-3228)CGC>CTC		CUB and Sushi multiple domains 2							103.0	116.0	112.0					1																	34180246		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34180246C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3347G>T	1.37:g.34180246C>A	ENSP00000362479:p.Arg1116Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.R1116L	p.R1076L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			21	3256	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1076			Sushi 6.|Extracellular (Potential).		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.3227G>T		.	.	.	.	.	.	.	.	.	.	C	17.74	3.462904	0.63513	.	.	ENSG00000121904	ENST00000373381	T	0.64618	-0.11	5.85	3.95	0.45737	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.57301	0.2044	N	0.20530	0.585	0.80722	D	1	P;B	0.40107	0.703;0.008	P;B	0.50659	0.647;0.13	T	0.56153	-0.8026	10	0.42905	T	0.14	.	11.3008	0.49304	0.0:0.8489:0.0:0.1511	.	1076;1116	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	1116	ENSP00000362479:R1116L	ENSP00000241312:R1076L	R	-	2	0	CSMD2	33952833	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.128000	0.50492	0.771000	0.33359	-0.119000	0.15052	CGC		0.627	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		158	105	1	0	2.64e-51	5.64e-51	158	105				
UTP11L	51118	broad.mit.edu	37	1	38484769	38484769	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:38484769T>A	ENST00000373014.4	+	5	442	c.381T>A	c.(379-381)gaT>gaA	p.D127E	UTP11L_ENST00000537711.1_Missense_Mutation_p.D127E|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	127					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCTGCTGGATTTCCAGGGGA	0.378																																						uc001ccn.3		NA																	0					0						c.(379-381)GAT>GAA		UTP11-like, U3 small nucleolar							90.0	90.0	90.0					1																	38484769		2203	4300	6503	SO:0001583	missense	51118				induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding	g.chr1:38484769T>A	AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.381T>A	1.37:g.38484769T>A	ENSP00000362105:p.Asp127Glu					UTP11L_uc009vvm.2_Missense_Mutation_p.D58E|UTP11L_uc010oil.1_RNA|UTP11L_uc001cco.3_Missense_Mutation_p.D58E	p.D127E	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN			5	472	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	127					A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	ENST00000373014.4	37	c.381T>A	CCDS429.1	.	.	.	.	.	.	.	.	.	.	T	14.74	2.626612	0.46840	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.94	3.48	0.39840	.	0.044222	0.85682	D	0.000000	T	0.44850	0.1313	L	0.41415	1.275	0.58432	D	0.999998	B	0.14805	0.011	B	0.15484	0.013	T	0.28554	-1.0040	9	0.23891	T	0.37	-29.4556	10.0122	0.41992	0.0:0.0701:0.1696:0.7603	.	127	Q9Y3A2	UTP11_HUMAN	E	127	.	ENSP00000362105:D127E	D	+	3	2	UTP11L	38257356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.332000	0.33805	1.068000	0.40764	-0.297000	0.09499	GAT		0.378	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012962.1	NM_016037		34	18	0	0	0	0	34	18				
MACF1	23499	broad.mit.edu	37	1	39763349	39763349	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:39763349A>T	ENST00000372915.3	+	20	2515	c.2428A>T	c.(2428-2430)Aaa>Taa	p.K810*	MACF1_ENST00000567887.1_Nonsense_Mutation_p.K842*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.K810*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.K810*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.K810*|MACF1_ENST00000564288.1_Nonsense_Mutation_p.K805*|MACF1_ENST00000539005.1_Nonsense_Mutation_p.K810*			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	810					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)			AGATTCCATTAAACGAAAATA	0.463																																						uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(2428-2430)AAA>TAA		microfilament and actin filament cross-linker							131.0	124.0	126.0					1																	39763349		2203	4300	6503	SO:0001587	stop_gained	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.chr1:39763349A>T	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.2428A>T	1.37:g.39763349A>T	ENSP00000362006:p.Lys810*					MACF1_uc001cda.1_Nonsense_Mutation_p.K718*|MACF1_uc001cdc.1_5'Flank|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	p.K810*	NM_012090	NP_036222	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	2633	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	810					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Nonsense_Mutation	SNP	ENST00000372915.3	37	c.2428A>T		.	.	.	.	.	.	.	.	.	.	A	43	9.866385	0.99283	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	.	.	.	X	810;810;810;810;810;768;959;970	.	ENSP00000313438:K810X	K	+	1	0	MACF1	39535936	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.083000	0.64456	2.324000	0.78689	0.533000	0.62120	AAA		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		46	26	0	0	0	0	46	26				
TIE1	7075	broad.mit.edu	37	1	43770797	43770798	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:43770797_43770798CG>AT	ENST00000372476.3	+	2	413_414	c.334_335CG>AT	c.(334-336)CGg>ATg	p.R112M	TIE1_ENST00000441333.2_Missense_Mutation_p.R112M|TIE1_ENST00000433781.2_5'Flank|TIE1_ENST00000538015.1_Missense_Mutation_p.R112M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	112					angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCTGGGGCGCGGCGCACGCGC	0.703																																						uc001ciu.2		NA																	0				lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(334-336)CGG>ATG		tyrosine kinase with immunoglobulin-like and																																				SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43770797_43770798CG>AT	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	Exception_encountered	1.37:g.43770797_43770798delinsAT	ENSP00000361554:p.Arg112Met					TIE1_uc010okd.1_Missense_Mutation_p.R112M|TIE1_uc010oke.1_Missense_Mutation_p.R67M|TIE1_uc009vwq.2_Missense_Mutation_p.R112M|TIE1_uc010okf.1_Translation_Start_Site|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Missense_Mutation_p.R112M|TIE1_uc010okb.1_Missense_Mutation_p.R112M|TIE1_uc010okc.1_Missense_Mutation_p.R112M	p.R112M	NM_005424	NP_005415	P35590	TIE1_HUMAN			2	413_414	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	112			Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	DNP	ENST00000372476.3	37	c.334_335CG>AT	CCDS482.1																																																																																				0.703	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		12	16	0	0	0	0	12	16				
TAL1	6886	broad.mit.edu	37	1	47689705	47689705	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:47689705G>A	ENST00000294339.3	-	3	1088	c.512C>T	c.(511-513)cCt>cTt	p.P171L	TAL1_ENST00000371884.2_Missense_Mutation_p.P171L|RP1-18D14.7_ENST00000422216.1_RNA|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.P173L	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	171					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ATAGGGGGAAGGTCTCCTCTT	0.572			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	uc001cqx.2		NA		Dom	yes		1	1p32	6886	T	T-cell acute lymphocytic leukemia 1 (SCL)			L	TRD@|SIL		lymphoblastic leukemia/biphasic		0				lung(1)	1						c.(511-513)CCT>CTT		T-cell acute lymphocytic leukemia 1							170.0	153.0	159.0					1																	47689705		2203	4300	6503	SO:0001583	missense	6886				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	g.chr1:47689705G>A	M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.512C>T	1.37:g.47689705G>A	ENSP00000294339:p.Pro171Leu					TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Missense_Mutation_p.P171L|TAL1_uc001cra.1_RNA|TAL1_uc001cqz.1_RNA	p.P171L	NM_003189	NP_003180	P17542	TAL1_HUMAN			3	1089	-			171					D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	c.512C>T	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215556	0.79352	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.98090	-4.69;-4.71;-4.69	4.76	4.76	0.60689	.	0.132409	0.52532	N	0.000076	D	0.96420	0.8832	L	0.52573	1.65	0.80722	D	1	D	0.53619	0.961	B	0.44224	0.444	D	0.97039	0.9756	10	0.72032	D	0.01	.	17.4638	0.87627	0.0:0.0:1.0:0.0	.	171	P17542	TAL1_HUMAN	L	171;173;171	ENSP00000360951:P171L;ENSP00000360950:P173L;ENSP00000294339:P171L	ENSP00000294339:P171L	P	-	2	0	TAL1	47462292	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.353000	0.90077	2.195000	0.70347	0.650000	0.86243	CCT		0.572	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189		61	52	0	0	0	0	61	52				
CYB5RL	606495	broad.mit.edu	37	1	54645006	54645006	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:54645006A>T	ENST00000534324.1	-	5	559	c.560T>A	c.(559-561)cTg>cAg	p.L187Q	CYB5RL_ENST00000401046.3_Missense_Mutation_p.L39Q|CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000542737.1_Missense_Mutation_p.L187Q|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000419823.2_Missense_Mutation_p.L187Q			Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	187							cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCCCGCAGCCAGCAAGAGGAG	0.542																																						uc009vzo.2		NA																	0					0						c.(559-561)CTG>CAG		cytochrome b5 reductase-like							37.0	42.0	41.0					1																	54645006		1996	4162	6158	SO:0001583	missense	606495						cytochrome-b5 reductase activity	g.chr1:54645006A>T		CCDS44151.1	1p32.3	2011-04-08			ENSG00000215883	ENSG00000215883			32220	protein-coding gene	gene with protein product						12477932	Standard	NM_001031672		Approved	LOC606495	uc009vzo.3	Q6IPT4	OTTHUMG00000008082	ENST00000534324.1:c.560T>A	1.37:g.54645006A>T	ENSP00000434343:p.Leu187Gln					CYB5RL_uc001cww.2_Missense_Mutation_p.L77Q|CYB5RL_uc001cwx.3_RNA|CYB5RL_uc001cwy.3_Missense_Mutation_p.L39Q	p.L187Q	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN			7	880	-			187			FAD (By similarity).		B7ZBS4|Q8NF25	Missense_Mutation	SNP	ENST00000534324.1	37	c.560T>A	CCDS44151.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.129916	0.77549	.	.	ENSG00000215883	ENST00000419823;ENST00000401046;ENST00000534324;ENST00000542737;ENST00000493530	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.37	5.37	0.77165	Oxidoreductase FAD/NAD(P)-binding (1);	0.000000	0.31167	U	0.008132	D	0.93815	0.8022	M	0.74467	2.265	0.45087	D	0.998101	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	D	0.94460	0.7675	10	0.87932	D	0	.	13.9555	0.64144	1.0:0.0:0.0:0.0	.	187;39	Q6IPT4;Q6IPT4-3	NB5R5_HUMAN;.	Q	187;39;187;187;101	ENSP00000409075:L187Q;ENSP00000383825:L39Q;ENSP00000434343:L187Q;ENSP00000438151:L187Q;ENSP00000434606:L101Q	ENSP00000383825:L39Q	L	-	2	0	CYB5RL	54417594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.411000	0.73298	2.028000	0.59812	0.533000	0.62120	CTG		0.542	CYB5RL-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388318.1	NM_001031672		9	12	0	0	0	0	9	12				
KANK4	163782	broad.mit.edu	37	1	62728768	62728768	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:62728768C>T	ENST00000371153.4	-	7	2913	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E	KANK4_ENST00000354381.3_Silent_p.E217E|KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000371150.1_Silent_p.E201E	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	845						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TCTGACCTGTCTCCAGCAGCA	0.458																																						uc001dah.3		NA																	0				ovary(3)|skin(2)|lung(1)	6						c.(2533-2535)GAG>GAA		ankyrin repeat domain 38							51.0	40.0	44.0					1																	62728768		2203	4300	6503	SO:0001819	synonymous_variant	163782							g.chr1:62728768C>T	AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.2535G>A	1.37:g.62728768C>T						KANK4_uc001dai.3_Silent_p.E217E|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Silent_p.E201E	p.E845E	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN			7	2912	-			845			ANK 1.		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	ENST00000371153.4	37	c.2535G>A	CCDS620.1																																																																																				0.458	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024877.1	NM_181712		10	10	0	0	0	0	10	10				
CACHD1	57685	broad.mit.edu	37	1	65138857	65138857	+	Missense_Mutation	SNP	G	G	T	rs148780022		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:65138857G>T	ENST00000371073.2	+	18	2527	c.2527G>T	c.(2527-2529)Gac>Tac	p.D843Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.D792Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	843	Cache 2.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CATAATGGAGGACAGGGGTTA	0.453																																						uc001dbo.1		NA																	0				ovary(2)	2						c.(2374-2376)GAC>TAC		cache domain containing 1							184.0	194.0	191.0					1																	65138857		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65138857G>T	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2527G>T	1.37:g.65138857G>T	ENSP00000360113:p.Asp843Tyr					CACHD1_uc001dbp.1_Missense_Mutation_p.D547Y|CACHD1_uc001dbq.1_Missense_Mutation_p.D547Y|CACHD1_uc010opa.1_Missense_Mutation_p.D36Y	p.D792Y	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			18	2479	+			843			Extracellular (Potential).|Cache 2.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2374G>T		.	.	.	.	.	.	.	.	.	.	G	26.0	4.690493	0.88735	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.28454	1.61;1.62	5.75	5.75	0.90469	Cache (1);	0.000000	0.85682	D	0.000000	T	0.52948	0.1766	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55490	-0.8133	10	0.87932	D	0	-36.5564	19.949	0.97192	0.0:0.0:1.0:0.0	.	843	Q5VU97	CAHD1_HUMAN	Y	843;792	ENSP00000360113:D843Y;ENSP00000290039:D792Y	ENSP00000290039:D792Y	D	+	1	0	CACHD1	64911445	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.338000	0.96553	2.706000	0.92434	0.655000	0.94253	GAC		0.453	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		99	79	1	0	2.65e-51	5.67e-51	99	79				
LEPR	3953	broad.mit.edu	37	1	66036415	66036415	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:66036415C>A	ENST00000349533.6	+	4	485	c.300C>A	c.(298-300)tcC>tcA	p.S100S	LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Silent_p.S100S|LEPR_ENST00000462765.1_3'UTR|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371060.3_Silent_p.S100S|LEPR_ENST00000371059.3_Silent_p.S100S|LEPR_ENST00000344610.8_Silent_p.S100S	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)		GAAACTGCTCCTTATGTGCAG	0.333																																						uc001dci.2		NA																	0				skin(1)	1						c.(298-300)TCC>TCA		leptin receptor isoform 1							79.0	79.0	79.0					1																	66036415		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.chr1:66036415C>A	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.300C>A	1.37:g.66036415C>A						LEPR_uc001dcg.2_Silent_p.S100S|LEPR_uc001dch.2_Silent_p.S100S|LEPR_uc009waq.2_Silent_p.S100S|LEPR_uc001dcj.2_Silent_p.S100S|LEPR_uc001dck.2_Silent_p.S100S	p.S100S	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	502	+			100			Extracellular (Potential).		Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.300C>A	CCDS631.1																																																																																				0.333	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		36	23	1	0	1.97e-18	3.94e-18	36	23				
WDR78	79819	broad.mit.edu	37	1	67359072	67359072	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:67359072C>A	ENST00000371026.3	-	3	425	c.370G>T	c.(370-372)Gtt>Ttt	p.V124F	WDR78_ENST00000371022.3_Missense_Mutation_p.V124F|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371023.3_Missense_Mutation_p.V124F	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	124					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CGGGGAGTAACATCAGTTCCA	0.343																																						uc001dcx.2		NA																	0				ovary(2)	2						c.(370-372)GTT>TTT		WD repeat domain 78 isoform 1							151.0	145.0	147.0					1																	67359072		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67359072C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.370G>T	1.37:g.67359072C>A	ENSP00000360065:p.Val124Phe					WDR78_uc001dcy.2_Missense_Mutation_p.V124F|WDR78_uc001dcz.2_Missense_Mutation_p.V124F|WDR78_uc009wax.2_5'Flank	p.V124F	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			3	426	-			124					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.370G>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102064	0.56183	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.72051	-0.62;1.01;0.42	5.17	5.17	0.71159	.	0.059793	0.64402	D	0.000003	T	0.81133	0.4759	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.996	D	0.83445	0.0045	10	0.87932	D	0	-23.5637	14.5337	0.67944	0.0:1.0:0.0:0.0	.	124;124;124	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	F	124	ENSP00000360065:V124F;ENSP00000360062:V124F;ENSP00000360061:V124F	ENSP00000360061:V124F	V	-	1	0	WDR78	67131660	1.000000	0.71417	1.000000	0.80357	0.252000	0.25951	3.848000	0.55903	2.572000	0.86782	0.650000	0.86243	GTT		0.343	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		26	19	1	0	2.49e-11	4.54e-11	26	19				
LRRC7	57554	broad.mit.edu	37	1	70493932	70493932	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:70493932G>A	ENST00000035383.5	+	16	1789	c.1759G>A	c.(1759-1761)Gtg>Atg	p.V587M	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000310961.5_Missense_Mutation_p.V592M|LRRC7_ENST00000415775.2_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	587						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCAAAATTTGGTGGGTAAGCC	0.378																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(1759-1761)GTG>ATG		leucine rich repeat containing 7							84.0	87.0	86.0					1																	70493932		2203	4299	6502	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70493932G>A		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1759G>A	1.37:g.70493932G>A	ENSP00000035383:p.Val587Met					LRRC7_uc009wbg.2_Intron	p.V587M	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			16	1789	+			587					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.1759G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571718	0.86542	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.08896	3.04;3.04	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.13415	0.0325	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.05386	-1.0888	10	0.62326	D	0.03	.	19.3434	0.94355	0.0:0.0:1.0:0.0	.	587	Q96NW7	LRRC7_HUMAN	M	592;587;410	ENSP00000309245:V592M;ENSP00000035383:V587M	ENSP00000035383:V587M	V	+	1	0	LRRC7	70266520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.159000	0.94728	2.812000	0.96745	0.557000	0.71058	GTG		0.378	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		17	54	0	0	0	0	17	54				
FPGT	8790	broad.mit.edu	37	1	74670412	74670412	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:74670412C>G	ENST00000609362.1	+	4	718	c.681C>G	c.(679-681)ttC>ttG	p.F227L	FPGT-TNNI3K_ENST00000533006.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.F240L|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	227					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GCCATCGTTTCCTTCATAAGC	0.403																																						uc001dgb.1		NA																	0				skin(1)	1						c.(679-681)TTC>TTG		fucose-1-phosphate guanyltransferase							77.0	77.0	77.0					1																	74670412		2203	4300	6503	SO:0001583	missense	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670412C>G	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.681C>G	1.37:g.74670412C>G	ENSP00000476680:p.Phe227Leu					TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.F227L	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	718	+			227					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	37	c.681C>G	CCDS663.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263216	0.59431	.	.	ENSG00000254685	ENST00000370898	T	0.23754	1.89	5.57	1.69	0.24217	L-fucokinase (1);	.	.	.	.	T	0.25494	0.0620	M	0.71581	2.175	0.80722	D	1	D	0.56287	0.975	P	0.55615	0.78	T	0.02837	-1.1104	8	.	.	.	.	9.5331	0.39207	0.0:0.5917:0.0:0.4083	.	227	O14772	FPGT_HUMAN	L	227	ENSP00000359935:F227L	.	F	+	3	2	TNNI3K	74443000	0.970000	0.33590	0.999000	0.59377	0.986000	0.74619	0.198000	0.17217	0.064000	0.16427	-0.189000	0.12847	TTC		0.403	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	47	0	0	0	0	15	47				
IFI44L	10964	broad.mit.edu	37	1	79106756	79106756	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:79106756C>A	ENST00000370751.5	+	7	1278	c.1099C>A	c.(1099-1101)Ctt>Att	p.L367I	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.L109I	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	367					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGTGAGGTTCTTCAAGACAA	0.313																																						uc010oro.1		NA																	0					0						c.(1099-1101)CTT>ATT		interferon-induced protein 44-like							155.0	160.0	158.0					1																	79106756		2203	4299	6502	SO:0001583	missense	10964					cytoplasm		g.chr1:79106756C>A	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1099C>A	1.37:g.79106756C>A	ENSP00000359787:p.Leu367Ile					IFI44L_uc010orp.1_Missense_Mutation_p.L104I|IFI44L_uc010orq.1_Missense_Mutation_p.L104I	p.L367I	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			7	1278	+			367					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.1099C>A	CCDS687.2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.495607	0.26774	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.31510	2.79;1.49	4.25	3.33	0.38152	.	0.169621	0.39083	N	0.001462	T	0.31389	0.0795	L	0.57536	1.79	0.25506	N	0.987503	D	0.76494	0.999	D	0.69479	0.964	T	0.05354	-1.0890	10	0.38643	T	0.18	-10.8976	10.0653	0.42299	0.0:0.8993:0.0:0.1007	.	367	Q53G44	IF44L_HUMAN	I	367;109	ENSP00000359787:L367I;ENSP00000342833:L109I	ENSP00000342833:L109I	L	+	1	0	IFI44L	78879344	0.894000	0.30519	0.836000	0.33094	0.161000	0.22273	0.918000	0.28678	1.099000	0.41499	0.558000	0.71614	CTT		0.313	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		61	34	1	0	1.46e-27	3.05e-27	61	34				
CCBL2	56267	broad.mit.edu	37	1	89430571	89430571	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:89430571C>A	ENST00000260508.4	-	5	731	c.394G>T	c.(394-396)Gta>Tta	p.V132L	CCBL2_ENST00000370491.3_Missense_Mutation_p.V98L|CCBL2_ENST00000370485.2_Missense_Mutation_p.V132L|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	132					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		TATGCTCCTACTGTCACAAGG	0.333																																						uc001dmp.2		NA																	0				ovary(1)	1						c.(394-396)GTA>TTA		kynurenine aminotransferase III isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						96.0	91.0	93.0					1																	89430571		2203	4297	6500	SO:0001583	missense	56267				biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding	g.chr1:89430571C>A	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.394G>T	1.37:g.89430571C>A	ENSP00000260508:p.Val132Leu					CCBL2_uc001dmq.2_Missense_Mutation_p.V98L|CCBL2_uc001dmr.2_5'UTR	p.V132L	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN		all cancers(265;0.0117)|Epithelial(280;0.0341)	5	771	-		Lung NSC(277;0.123)	132					B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	ENST00000260508.4	37	c.394G>T	CCDS30766.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676652	0.67928	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370485;ENST00000370486	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.43	4.51	0.55191	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.056385	0.64402	D	0.000001	D	0.91081	0.7193	M	0.92459	3.31	0.53688	D	0.999978	B	0.28900	0.227	B	0.35688	0.208	D	0.90990	0.4834	10	0.56958	D	0.05	-12.0694	14.2891	0.66265	0.0:0.9278:0.0:0.0722	.	132	Q6YP21	KAT3_HUMAN	L	98;132;132;132	ENSP00000359522:V98L;ENSP00000260508:V132L;ENSP00000359516:V132L;ENSP00000359517:V132L	ENSP00000260508:V132L	V	-	1	0	CCBL2	89203159	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.407000	0.66363	1.285000	0.44548	0.585000	0.79938	GTA		0.333	CCBL2-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000029300.3	NM_001008661		26	24	1	0	7.08e-08	1.2e-07	26	24				
DPYD	1806	broad.mit.edu	37	1	97700482	97700482	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:97700482T>A	ENST00000370192.3	-	19	2468	c.2368A>T	c.(2368-2370)Att>Ttt	p.I790F	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	790					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	GTAGCCAAAATGGGAAATCCA	0.463																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2368-2370)ATT>TTT		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						114.0	93.0	100.0					1																	97700482		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97700482T>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2368A>T	1.37:g.97700482T>A	ENSP00000359211:p.Ile790Phe						p.I790F	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	19	2505	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	790					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2368A>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378585	0.82682	.	.	ENSG00000188641	ENST00000370192	T	0.79247	-1.25	5.75	4.62	0.57501	Aldolase-type TIM barrel (1);	0.206931	0.45606	D	0.000348	D	0.89434	0.6714	H	0.98612	4.28	0.80722	D	1	D	0.53619	0.961	D	0.63957	0.92	D	0.91272	0.5045	10	0.87932	D	0	-17.3562	9.8195	0.40874	0.0:0.139:0.0:0.861	.	790	Q12882	DPYD_HUMAN	F	790	ENSP00000359211:I790F	ENSP00000359211:I790F	I	-	1	0	DPYD	97473070	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.627000	0.46469	0.997000	0.38969	0.460000	0.39030	ATT		0.463	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		39	27	0	0	0	0	39	27				
DPYD	1806	broad.mit.edu	37	1	97771816	97771816	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:97771816C>A	ENST00000370192.3	-	17	2196	c.2096G>T	c.(2095-2097)aGg>aTg	p.R699M	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	699					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AACAGCTTGCCTAACCCAGCG	0.423																																						uc001drv.2		NA																	0				ovary(3)|skin(3)|breast(2)	8						c.(2095-2097)AGG>ATG		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)						153.0	151.0	152.0					1																	97771816		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97771816C>A	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2096G>T	1.37:g.97771816C>A	ENSP00000359211:p.Arg699Met						p.R699M	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	17	2233	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	699					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2096G>T	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257975	0.80246	.	.	ENSG00000188641	ENST00000370192	T	0.77489	-1.1	6.08	6.08	0.98989	Aldolase-type TIM barrel (1);	0.054875	0.64402	D	0.000001	D	0.90607	0.7055	M	0.91717	3.235	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91190	0.4983	10	0.87932	D	0	-19.3295	20.6721	0.99693	0.0:1.0:0.0:0.0	.	699	Q12882	DPYD_HUMAN	M	699	ENSP00000359211:R699M	ENSP00000359211:R699M	R	-	2	0	DPYD	97544404	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	5.759000	0.68785	2.894000	0.99253	0.591000	0.81541	AGG		0.423	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		41	157	1	0	6.46e-13	1.2e-12	41	157				
PLPPR5	163404	broad.mit.edu	37	1	99418732	99418732	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:99418732C>A	ENST00000263177.4	-	3	736	c.515G>T	c.(514-516)aGt>aTt	p.S172I	LPPR5_ENST00000370188.3_Missense_Mutation_p.S172I	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		172						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										CTCTTCCCCACTGATGAATTG	0.478																																						uc001dsb.2		NA																	0					0						c.(514-516)AGT>ATT		phosphatidic acid phosphatase type 2d isoform 1							124.0	111.0	116.0					1																	99418732		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99418732C>A																												ENST00000263177.4:c.515G>T	1.37:g.99418732C>A	ENSP00000263177:p.Ser172Ile					LPPR5_uc001dsc.2_Missense_Mutation_p.S172I	p.S172I	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			3	737	-			172					A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.515G>T	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.756932	0.69648	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.39229	1.09;1.09	4.88	4.88	0.63580	.	0.291981	0.42053	D	0.000763	T	0.25680	0.0625	L	0.46885	1.475	0.44547	D	0.997504	B;B	0.30605	0.243;0.287	B;B	0.39935	0.135;0.314	T	0.06023	-1.0850	10	0.13470	T	0.59	.	13.1706	0.59595	0.0:0.8397:0.1603:0.0	.	172;172	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	I	172	ENSP00000359207:S172I;ENSP00000263177:S172I	ENSP00000263177:S172I	S	-	2	0	AL161744.1	99191320	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	1.817000	0.39002	2.409000	0.81822	0.655000	0.94253	AGT		0.478	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			32	24	1	0	1.89e-17	3.75e-17	32	24				
CELSR2	1952	broad.mit.edu	37	1	109803804	109803804	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:109803804G>A	ENST00000271332.3	+	3	4160	c.4099G>A	c.(4099-4101)Gtg>Atg	p.V1367M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1367	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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)		CTACTGCCAGGTGACCACGCG	0.632																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3		NA																	0				ovary(4)|lung(3)|skin(1)	8						c.(4099-4101)GTG>ATG		cadherin EGF LAG seven-pass G-type receptor 2							96.0	94.0	94.0					1																	109803804		2203	4300	6503	SO:0001583	missense	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.chr1:109803804G>A	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.4099G>A	1.37:g.109803804G>A	ENSP00000271332:p.Val1367Met						p.V1367M	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)	3	4160	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1367			Extracellular (Potential).|Laminin G-like 1.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.4099G>A	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032565	0.35893	.	.	ENSG00000143126	ENST00000271332	T	0.79653	-1.29	4.77	4.77	0.60923	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.45856	0.1363	N	0.16098	0.37	0.39963	D	0.97469	B	0.20550	0.046	B	0.20184	0.028	T	0.49899	-0.8890	9	0.29301	T	0.29	.	4.1513	0.10238	0.2061:0.2023:0.5916:0.0	.	1367	Q9HCU4	CELR2_HUMAN	M	1367	ENSP00000271332:V1367M	ENSP00000271332:V1367M	V	+	1	0	CELSR2	109605327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.178000	0.50879	2.478000	0.83669	0.561000	0.74099	GTG		0.632	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		28	67	0	0	0	0	28	67				
AMPD2	271	broad.mit.edu	37	1	110170415	110170415	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:110170415C>A	ENST00000256578.3	+	9	1492	c.1132C>A	c.(1132-1134)Cgg>Agg	p.R378R	AMPD2_ENST00000528667.1_Silent_p.R378R|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Silent_p.R297R|AMPD2_ENST00000528454.1_Silent_p.R260R|AMPD2_ENST00000393688.3_Silent_p.R259R|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Silent_p.R303R	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	378					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGCTACCGCCGGCTGCAGTA	0.557																																						uc009wfh.1		NA																	0				ovary(2)|breast(1)	3						c.(1132-1134)CGG>AGG		adenosine monophosphate deaminase 2 (isoform L)							61.0	63.0	62.0					1																	110170415		2203	4300	6503	SO:0001819	synonymous_variant	271				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:110170415C>A	S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.1132C>A	1.37:g.110170415C>A						AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Silent_p.R297R|AMPD2_uc001dyc.1_Silent_p.R378R|AMPD2_uc010ovr.1_Silent_p.R303R|AMPD2_uc010ovs.1_Silent_p.R260R|AMPD2_uc001dyd.1_Silent_p.R259R|AMPD2_uc001dye.1_5'Flank	p.R378R	NM_004037	NP_004028	Q01433	AMPD2_HUMAN		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1674	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	378					B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Silent	SNP	ENST00000256578.3	37	c.1132C>A	CCDS805.1	.	.	.	.	.	.	.	.	.	.	c	10.35	1.324752	0.24080	.	.	ENSG00000116337	ENST00000369840	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	T	0.67933	0.2946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65590	-0.6131	4	.	.	.	-38.2426	17.6075	0.88042	0.0:1.0:0.0:0.0	.	.	.	.	Q	348	.	.	P	+	2	0	AMPD2	109971938	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.584000	0.82572	2.705000	0.92388	0.506000	0.49869	CCG		0.557	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			13	41	1	0	1.36e-13	2.58e-13	13	41				
GSTM4	2948	broad.mit.edu	37	1	110203833	110203833	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:110203833C>G	ENST00000369836.4	+	8	923	c.614C>G	c.(613-615)cCa>cGa	p.P205R	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.P144R|GSTM4_ENST00000369833.1_3'UTR|GSTM4_ENST00000326729.5_Intron	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	205	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CGCTTCCTCCCAAAACCTCTG	0.577																																						uc001dyf.2		NA																	0					0						c.(613-615)CCA>CGA		glutathione S-transferase mu 4 isoform 1	Glutathione(DB00143)						133.0	144.0	141.0					1																	110203833		2200	4299	6499	SO:0001583	missense	2948				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110203833C>G	M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.614C>G	1.37:g.110203833C>G	ENSP00000358851:p.Pro205Arg					GSTM4_uc001dyg.2_Missense_Mutation_p.P101R|GSTM4_uc009wfj.2_Missense_Mutation_p.P144R|GSTM4_uc001dyh.2_Intron|GSTM2_uc001dyi.2_Intron	p.P205R	NM_000850	NP_000841	Q03013	GSTM4_HUMAN		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	8	928	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	205			GST C-terminal.		A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Missense_Mutation	SNP	ENST00000369836.4	37	c.614C>G	CCDS807.1	.	.	.	.	.	.	.	.	.	.	C	8.474	0.858166	0.17178	.	.	ENSG00000168765	ENST00000369836;ENST00000336075	T;T	0.03524	3.9;3.9	3.69	-0.97	0.10306	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.230224	0.33792	N	0.004557	T	0.00784	0.0026	L	0.41236	1.265	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.12156	0.005;0.007	T	0.48210	-0.9055	10	0.16896	T	0.51	-15.7755	4.0355	0.09727	0.15:0.2786:0.471:0.1004	.	144;205	Q4JNT8;Q03013	.;GSTM4_HUMAN	R	205;144	ENSP00000358851:P205R;ENSP00000336744:P144R	ENSP00000336744:P144R	P	+	2	0	GSTM4	110005356	0.003000	0.15002	0.000000	0.03702	0.778000	0.44026	0.845000	0.27668	-0.288000	0.09051	0.491000	0.48974	CCA		0.577	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032187.1	NM_000850		16	164	0	0	0	0	16	164				
PTPN22	26191	broad.mit.edu	37	1	114376998	114376998	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:114376998G>T	ENST00000359785.5	-	15	2093	c.1958C>A	c.(1957-1959)tCa>tAa	p.S653*	PTPN22_ENST00000528414.1_Nonsense_Mutation_p.S598*|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Nonsense_Mutation_p.S653*|PTPN22_ENST00000538253.1_Nonsense_Mutation_p.S409*|PTPN22_ENST00000525799.1_Nonsense_Mutation_p.S526*	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	653					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		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)		CCATTCCAGTGATGTTCCAAT	0.363																																						uc001eds.2		NA																	0				kidney(2)|lung(1)|skin(1)	4						c.(1957-1959)TCA>TAA		protein tyrosine phosphatase, non-receptor type							141.0	139.0	140.0					1																	114376998		2203	4300	6503	SO:0001587	stop_gained	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114376998G>T	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1958C>A	1.37:g.114376998G>T	ENSP00000352833:p.Ser653*					PTPN22_uc009wgq.2_Nonsense_Mutation_p.S598*|PTPN22_uc010owo.1_Nonsense_Mutation_p.S409*|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Nonsense_Mutation_p.S653*|PTPN22_uc009wgs.2_Nonsense_Mutation_p.S526*|PTPN22_uc001edu.2_Nonsense_Mutation_p.S653*	p.S653*	NM_015967	NP_057051	Q9Y2R2	PTN22_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)	15	2088	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	653					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Nonsense_Mutation	SNP	ENST00000359785.5	37	c.1958C>A	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	37	6.044538	0.97231	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	.	.	.	6.04	6.04	0.98038	.	0.413113	0.20675	N	0.087759	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.496	0.87717	0.0:0.0:1.0:0.0	.	.	.	.	X	653;598;409;653;526;653	.	ENSP00000346621:S653X	S	-	2	0	PTPN22	114178521	1.000000	0.71417	0.567000	0.28434	0.947000	0.59692	5.294000	0.65687	2.873000	0.98535	0.561000	0.74099	TCA		0.363	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		26	71	1	0	1.18e-14	2.27e-14	26	71				
AP4B1	10717	broad.mit.edu	37	1	114442738	114442738	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:114442738C>T	ENST00000369569.1	-	5	1182	c.902G>A	c.(901-903)cGc>cAc	p.R301H	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.R301H|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.R133H|AP4B1_ENST00000369566.3_Missense_Mutation_p.R208H	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	301					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-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)		CAAGATCTGGCGTACATGACA	0.473																																						uc001eeb.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(901-903)CGC>CAC		adaptor-related protein complex 4, beta 1							84.0	91.0	88.0					1																	114442738		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442738C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.902G>A	1.37:g.114442738C>T	ENSP00000358582:p.Arg301His					uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.R133H|AP4B1_uc001eed.2_Missense_Mutation_p.R301H|AP4B1_uc010owp.1_Missense_Mutation_p.R202H|AP4B1_uc001eea.1_Missense_Mutation_p.R95H|AP4B1_uc001eee.1_5'Flank|AP4B1_uc010owq.1_Missense_Mutation_p.R208H	p.R301H	NM_006594	NP_006585	Q9Y6B7	AP4B1_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)	5	1045	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	301					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.902G>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.489137	0.44249	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415	T;T;T;T;T;T	0.13657	2.57;2.57;2.57;2.57;2.57;2.57	4.96	4.96	0.65561	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.052624	0.85682	D	0.000000	T	0.15003	0.0362	N	0.21324	0.655	0.58432	D	0.999995	B;P;D;P	0.71674	0.122;0.472;0.998;0.472	B;B;D;B	0.65010	0.094;0.094;0.931;0.058	T	0.09422	-1.0675	10	0.35671	T	0.21	.	18.5751	0.91151	0.0:1.0:0.0:0.0	.	208;133;301;202	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	H	133;301;301;208;226;133	ENSP00000358580:R133H;ENSP00000358582:R301H;ENSP00000256658:R301H;ENSP00000358579:R208H;ENSP00000358577:R226H;ENSP00000393622:R133H	ENSP00000256658:R301H	R	-	2	0	AP4B1	114244261	0.989000	0.36119	1.000000	0.80357	0.984000	0.73092	3.950000	0.56676	2.451000	0.82905	0.462000	0.41574	CGC		0.473	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		41	92	0	0	0	0	41	92				
SYCP1	6847	broad.mit.edu	37	1	115527424	115527424	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:115527424A>T	ENST00000369522.3	+	30	2878	c.2638A>T	c.(2638-2640)Aaa>Taa	p.K880*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.K880*|SYCP1_ENST00000477590.1_Intron	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	880					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAAGTAAAAAAAAGAGAAA	0.259																																						uc001efr.2		NA																	0				skin(1)	1						c.(2638-2640)AAA>TAA		synaptonemal complex protein 1							55.0	64.0	61.0					1																	115527424		2201	4279	6480	SO:0001587	stop_gained	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115527424A>T	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.2638A>T	1.37:g.115527424A>T	ENSP00000358535:p.Lys880*					SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Nonsense_Mutation_p.K880*|SYCP1_uc009wgw.2_Nonsense_Mutation_p.K855*	p.K880*	NM_003176	NP_003167	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	30	2847	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	880			Nuclear localization signal (Potential).		O14963|Q5VXJ6	Nonsense_Mutation	SNP	ENST00000369522.3	37	c.2638A>T	CCDS879.1	.	.	.	.	.	.	.	.	.	.	A	40	8.219477	0.98712	.	.	ENSG00000198765	ENST00000369522;ENST00000369518	.	.	.	5.55	5.55	0.83447	.	0.349859	0.32258	N	0.006346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.844	13.372	0.60719	1.0:0.0:0.0:0.0	.	.	.	.	X	880	.	ENSP00000358531:K880X	K	+	1	0	SYCP1	115328947	1.000000	0.71417	0.974000	0.42286	0.673000	0.39480	4.725000	0.61979	2.238000	0.73509	0.533000	0.62120	AAA		0.259	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		31	66	0	0	0	0	31	66				
NGF	4803	broad.mit.edu	37	1	115828838	115828838	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:115828838G>A	ENST00000369512.2	-	3	747	c.579C>T	c.(577-579)gaC>gaT	p.D193D	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	193					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	AGTGCTTTGAGTCAATGCCCC	0.507																																						uc001efu.1		NA																	0				upper_aerodigestive_tract(2)	2						c.(577-579)GAC>GAT		nerve growth factor, beta polypeptide precursor	Clenbuterol(DB01407)						92.0	89.0	90.0					1																	115828838		2203	4300	6503	SO:0001819	synonymous_variant	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115828838G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.579C>T	1.37:g.115828838G>A							p.D193D	NM_002506	NP_002497	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	748	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	193					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Silent	SNP	ENST00000369512.2	37	c.579C>T	CCDS882.1																																																																																				0.507	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		23	50	0	0	0	0	23	50				
IGSF3	3321	broad.mit.edu	37	1	117142746	117142746	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:117142746G>C	ENST00000369486.3	-	7	2611	c.1846C>G	c.(1846-1848)Cga>Gga	p.R616G	IGSF3_ENST00000369483.1_Missense_Mutation_p.R636G|IGSF3_ENST00000318837.6_Missense_Mutation_p.R636G	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	616	Ig-like C2-type 5.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGGCAGTTCGGGTTCGGAAG	0.627																																						uc001egr.1		NA																	0				ovary(2)	2						c.(1846-1848)CGA>GGA		immunoglobulin superfamily, member 3 isoform 2							65.0	52.0	56.0					1																	117142746		2203	4300	6503	SO:0001583	missense	3321					integral to membrane		g.chr1:117142746G>C	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1846C>G	1.37:g.117142746G>C	ENSP00000358498:p.Arg616Gly					IGSF3_uc001egq.1_Missense_Mutation_p.R636G|IGSF3_uc001egs.1_Missense_Mutation_p.R289G	p.R616G	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	7	2551	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	616			Ig-like C2-type 5.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.1846C>G	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.290423	0.80914	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.08458	3.09;3.09;3.09	4.8	4.8	0.61643	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.11452	0.0279	L	0.40543	1.245	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75484	0.976;0.986;0.986	T	0.24728	-1.0152	10	0.21540	T	0.41	-22.534	15.3857	0.74699	0.0:0.0:1.0:0.0	.	636;616;636	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	G	616;636;636	ENSP00000358498:R616G;ENSP00000358495:R636G;ENSP00000321184:R636G	ENSP00000321184:R636G	R	-	1	2	IGSF3	116944269	1.000000	0.71417	0.379000	0.26080	0.990000	0.78478	5.952000	0.70282	2.472000	0.83506	0.455000	0.32223	CGA		0.627	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		10	20	0	0	0	0	10	20				
HSD3B2	3284	broad.mit.edu	37	1	119958051	119958051	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:119958051G>T	ENST00000543831.1	+	2	258	c.9G>T	c.(7-9)tgG>tgT	p.W3C	HSD3B2_ENST00000369416.3_Missense_Mutation_p.W3C|HSD3B2_ENST00000471656.1_3'UTR	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	3					androgen biosynthetic process (GO:0006702)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	Corticotropin(DB01285)|Medroxyprogesterone Acetate(DB00603)|Trilostane(DB01108)	CGATGGGCTGGAGCTGCCTTG	0.552																																						uc001ehs.2		NA																	0				ovary(2)	2						c.(7-9)TGG>TGT		3 beta-hydroxysteroid dehydrogenase 2	NADH(DB00157)|Trilostane(DB01108)						78.0	76.0	77.0					1																	119958051		2203	4300	6503	SO:0001583	missense	3284				androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:119958051G>T	BC038419	CCDS902.1	1p12	2014-06-03			ENSG00000203859	ENSG00000203859	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5218	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 2"""	613890				1363812, 19027726	Standard	NM_000198		Approved	SDR11E2	uc001eht.3	P26439	OTTHUMG00000012526	ENST00000543831.1:c.9G>T	1.37:g.119958051G>T	ENSP00000445122:p.Trp3Cys					HSD3B2_uc001eht.2_Missense_Mutation_p.W3C|HSD3B2_uc001ehu.2_Missense_Mutation_p.W3C	p.W3C	NM_000198	NP_000189	P26439	3BHS2_HUMAN		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	1	782	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	3					A2RRA5|Q16010|Q53GD4|Q6AI10|Q6LDB9|Q99890|Q9UD08	Missense_Mutation	SNP	ENST00000543831.1	37	c.9G>T	CCDS902.1	.	.	.	.	.	.	.	.	.	.	-	13.63	2.293877	0.40594	.	.	ENSG00000203859	ENST00000543831;ENST00000433745;ENST00000369416	D;D;D	0.88046	-2.33;-2.33;-2.33	3.6	3.6	0.41247	.	0.442759	0.23041	U	0.052612	T	0.78597	0.4308	N	0.08118	0	0.46586	D	0.999117	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.94	T	0.78102	-0.2335	9	.	.	.	-17.0223	8.9398	0.35722	0.1115:0.0:0.8885:0.0	.	3;3	P26439-2;P26439	.;3BHS2_HUMAN	C	3	ENSP00000445122:W3C;ENSP00000388292:W3C;ENSP00000358424:W3C	.	W	+	3	0	HSD3B2	119759574	1.000000	0.71417	0.993000	0.49108	0.732000	0.41865	2.570000	0.45981	2.028000	0.59812	0.454000	0.30748	TGG		0.552	HSD3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034994.1	NM_000198		24	71	1	0	7.88e-14	1.49e-13	24	71				
PDE4DIP	9659	broad.mit.edu	37	1	145075769	145075769	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:145075769G>C	ENST00000530740.1	-	1	132	c.94C>G	c.(94-96)Cgg>Ggg	p.R32G	PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R32G|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.R32G|PDE4DIP_ENST00000369345.4_Missense_Mutation_p.R32G			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCCCGGACCGGTAAGGCGTG	0.716			T	PDGFRB	MPD																																	uc001emh.2		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(94-96)CGG>GGG		phosphodiesterase 4D interacting protein isoform							45.0	58.0	54.0					1																	145075769		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:145075769G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000530740.1:c.94C>G	1.37:g.145075769G>C	ENSP00000435654:p.Arg32Gly					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elo.2_Missense_Mutation_p.R32G|PDE4DIP_uc001emk.2_Missense_Mutation_p.R32G	p.R32G	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	1	311	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000530740.1	37	c.94C>G		.	.	.	.	.	.	.	.	.	.	G	6.212	0.407338	0.11754	.	.	ENSG00000178104	ENST00000530740;ENST00000369359;ENST00000369348;ENST00000369345	T;T;T	0.08720	4.86;4.86;3.06	3.16	-0.55	0.11825	.	.	.	.	.	T	0.01222	0.0040	N	0.14661	0.345	0.09310	N	1	B;B	0.29115	0.233;0.026	B;B	0.23852	0.049;0.01	T	0.47086	-0.9144	9	0.33141	T	0.24	.	5.7927	0.18369	0.5294:0.0:0.4706:0.0	.	32;32	Q5TB27;E9PJ64	.;.	G	32	ENSP00000435654:R32G;ENSP00000358366:R32G;ENSP00000358354:R32G	ENSP00000358351:R32G	R	-	1	2	PDE4DIP	143787126	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	-0.831000	0.04405	-0.230000	0.09840	-0.424000	0.05967	CGG		0.716	PDE4DIP-036	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000384663.2	NM_022359		11	70	0	0	0	0	11	70				
LIX1L	128077	broad.mit.edu	37	1	145497393	145497393	+	Splice_Site	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:145497393G>T	ENST00000369308.3	+	4	672	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (chicken) like	200										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACTACCAGGGCAACAGGGA	0.428																																						uc001enr.2		NA																	0				ovary(1)	1						c.(598-600)GGC>TGC		Lix1 homolog (mouse) like							83.0	76.0	78.0					1																	145497393		2203	4300	6503	SO:0001630	splice_region_variant	128077							g.chr1:145497393G>T	AK128733	CCDS72873.1	1q21.1	2014-07-15	2014-07-15		ENSG00000152022	ENSG00000271601			28715	protein-coding gene	gene with protein product			"""Lix1 homolog (mouse) like"", ""Lix1 homolog (chicken)-like"""			12477932	Standard	NM_153713		Approved	MGC46719	uc001enr.3	Q8IVB5	OTTHUMG00000013741	ENST00000369308.3:c.598-1G>T	1.37:g.145497393G>T						NBPF10_uc001emp.3_Intron|LIX1L_uc009wiu.1_5'Flank	p.G200C	NM_153713	NP_714924	Q8IVB5	LIX1L_HUMAN			4	672	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		200					Q6AI36	Missense_Mutation	SNP	ENST00000369308.3	37	c.598G>T	CCDS915.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745244	0.89663	.	.	ENSG00000152022	ENST00000369308;ENST00000449167	.	.	.	4.99	4.99	0.66335	.	0.157741	0.56097	D	0.000028	T	0.68393	0.2996	M	0.71206	2.165	0.80722	D	1	D	0.69078	0.997	P	0.58660	0.843	T	0.69161	-0.5218	8	.	.	.	-11.4147	15.8039	0.78477	0.0:0.0:1.0:0.0	.	200	Q8IVB5	LIX1L_HUMAN	C	200;147	.	.	G	+	1	0	LIX1L	144208750	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.034000	0.93747	2.584000	0.87258	0.563000	0.77884	GGC		0.428	LIX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038513.1	NM_153713	Missense_Mutation	10	41	1	0	0.000978159	0.00145136	10	41				
GJA5	2702	broad.mit.edu	37	1	147231343	147231343	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:147231343C>A	ENST00000271348.2	-	2	165	c.4G>T	c.(4-6)Ggc>Tgc	p.G2C	GJA5_ENST00000369237.1_Missense_Mutation_p.G2C|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	2					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CTCCAATCGCCCATCTTGGCA	0.493																																						uc001eps.1		NA																	0				ovary(1)	1						c.(4-6)GGC>TGC		connexin 40							65.0	72.0	70.0					1																	147231343		2203	4299	6502	SO:0001583	missense	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147231343C>A		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.4G>T	1.37:g.147231343C>A	ENSP00000271348:p.Gly2Cys					GJA5_uc001ept.1_Missense_Mutation_p.G2C	p.G2C	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		2	145	-	all_hematologic(923;0.0276)		2			Cytoplasmic (Potential).		Q5T3B6|Q5U0N6	Missense_Mutation	SNP	ENST00000271348.2	37	c.4G>T	CCDS929.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948736	0.73787	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.98762	-5.12;-5.12;-4.95	4.93	4.02	0.46733	.	0.052859	0.85682	D	0.000000	D	0.98918	0.9633	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.99734	1.1013	10	0.87932	D	0	.	13.1504	0.59486	0.0:0.9234:0.0:0.0766	.	2	P36382	CXA5_HUMAN	C	2	ENSP00000271348:G2C;ENSP00000358240:G2C;ENSP00000407645:G2C	ENSP00000271348:G2C	G	-	1	0	GJA5	145697967	1.000000	0.71417	0.999000	0.59377	0.960000	0.62799	5.930000	0.70104	1.300000	0.44818	0.563000	0.77884	GGC		0.493	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703		16	69	1	0	2e-07	3.35e-07	16	69				
HRNR	388697	broad.mit.edu	37	1	152192079	152192079	+	Missense_Mutation	SNP	C	C	T	rs141565920		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:152192079C>T	ENST00000368801.2	-	3	2101	c.2026G>A	c.(2026-2028)Ggc>Agc	p.G676S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	676					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGGCCGTAGCTGGAA	0.587																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(2026-2028)GGC>AGC		hornerin		C	SER/GLY	0,4406		0,0,2203	126.0	139.0	134.0		2026	0.8	0.0	1	dbSNP_134	134	1,8599		0,1,4299	no	missense	HRNR	NM_001009931.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	676/2851	152192079	1,13005	2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192079C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2026G>A	1.37:g.152192079C>T	ENSP00000357791:p.Gly676Ser						p.G676S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2102	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		676			6		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2026G>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.805	0.933936	0.18206	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.05382	3.45	3.75	0.83	0.18854	.	.	.	.	.	T	0.00875	0.0029	L	0.29908	0.895	0.09310	N	1	D	0.52996	0.957	B	0.34242	0.178	T	0.38112	-0.9676	9	0.06625	T	0.88	.	7.4573	0.27274	0.0:0.7068:0.0:0.2932	.	676	Q86YZ3	HORN_HUMAN	S	676	ENSP00000357791:G676S	ENSP00000357791:G676S	G	-	1	0	HRNR	150458703	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.226000	0.02953	-0.007000	0.14345	-0.199000	0.12753	GGC		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		90	178	0	0	0	0	90	178				
CRNN	49860	broad.mit.edu	37	1	152382869	152382869	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:152382869G>T	ENST00000271835.3	-	3	751	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	230	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGAGTTCCAGATCCAGTCAC	0.577																																						uc001ezx.2		NA																	0				ovary(2)|skin(1)	3						c.(688-690)TCT>TAT		cornulin							273.0	274.0	273.0					1																	152382869		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382869G>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.689C>A	1.37:g.152382869G>T	ENSP00000271835:p.Ser230Tyr						p.S230Y	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	763	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		230			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.689C>A	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202878	0.38905	.	.	ENSG00000143536	ENST00000271835	T	0.04758	3.56	4.77	0.15	0.14883	.	1.003840	0.08023	N	0.992221	T	0.02230	0.0069	L	0.29908	0.895	0.09310	N	1	P	0.51653	0.947	P	0.47744	0.556	T	0.47947	-0.9077	10	0.72032	D	0.01	.	8.6854	0.34234	0.0:0.5131:0.3286:0.1582	.	230	Q9UBG3	CRNN_HUMAN	Y	230	ENSP00000271835:S230Y	ENSP00000271835:S230Y	S	-	2	0	CRNN	150649493	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.827000	0.27421	0.165000	0.19558	-0.515000	0.04445	TCT		0.577	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		98	211	1	0	4.71e-34	9.98e-34	98	211				
SPRR1B	6699	broad.mit.edu	37	1	153004977	153004977	+	Silent	SNP	A	A	G	rs368848590	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:153004977A>G	ENST00000307098.4	+	2	221	c.156A>G	c.(154-156)aaA>aaG	p.K52K	SPRR1B_ENST00000392661.3_Splice_Site_p.K52K	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	52	6 X 8 AA approximate tandem repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.C41_P64delCHPKVPEPCHPKVPEPCQPKVPEP(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCACCCCAAAGTGCCCGAGC	0.627													A|||	6	0.00119808	0.0008	0.0043	5008	,	,		15339	0.0		0.0	False		,,,				2504	0.002					uc001fba.2		NA																	1	Deletion - In frame(1)		ovary(1)	ovary(1)	1						c.(154-156)AAA>AAG		small proline-rich protein 1B		A		3,4403	6.2+/-15.9	0,3,2200	115.0	115.0	115.0		156	2.6	0.7	1		115	0,8598		0,0,4299	no	coding-synonymous	SPRR1B	NM_003125.2		0,3,6499	GG,GA,AA		0.0,0.0681,0.0231		52/90	153004977	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	6699				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:153004977A>G	M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.156A>G	1.37:g.153004977A>G						SPRR1B_uc009wnx.1_RNA	p.K52K	NM_003125	NP_003116	P22528	SPR1B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	220	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		52			6 X 8 AA approximate tandem repeats.|3.		B2R5H7|P22529|P22530|Q5T524	Silent	SNP	ENST00000307098.4	37	c.156A>G	CCDS30863.1																																																																																				0.627	SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125		13	122	0	0	0	0	13	122				
NES	10763	broad.mit.edu	37	1	156642721	156642721	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:156642721C>A	ENST00000368223.3	-	4	1391	c.1259G>T	c.(1258-1260)gGg>gTg	p.G420V		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	420	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGTTTCCTCCCACCCTGTGT	0.657																																						uc001fpq.2		NA																	0				ovary(6)	6						c.(1258-1260)GGG>GTG		nestin							44.0	53.0	50.0					1																	156642721		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156642721C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1259G>T	1.37:g.156642721C>A	ENSP00000357206:p.Gly420Val						p.G420V	NM_006617	NP_006608	P48681	NEST_HUMAN			4	1392	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		420			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.1259G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366534	0.24771	.	.	ENSG00000132688	ENST00000368223;ENST00000255024	D	0.86230	-2.09	4.53	1.61	0.23674	.	0.248357	0.21147	N	0.079389	T	0.75946	0.3919	L	0.47716	1.5	0.19300	N	0.999972	D	0.58620	0.983	P	0.49140	0.601	T	0.69483	-0.5133	10	0.72032	D	0.01	.	6.9992	0.24799	0.0:0.7001:0.0:0.2999	.	420	P48681	NEST_HUMAN	V	420	ENSP00000357206:G420V	ENSP00000255024:G420V	G	-	2	0	NES	154909345	0.001000	0.12720	0.003000	0.11579	0.141000	0.21300	0.362000	0.20284	0.130000	0.18549	0.467000	0.42956	GGG		0.657	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		24	67	1	0	4.48e-21	9.13e-21	24	67				
OR6K6	128371	broad.mit.edu	37	1	158724824	158724824	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:158724824G>T	ENST00000368144.2	+	1	315	c.219G>T	c.(217-219)atG>atT	p.M73I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ACCTAATAATGTTCATTGTCA	0.468																																						uc001fsw.1		NA																	0				skin(1)	1						c.(217-219)ATG>ATT		olfactory receptor, family 6, subfamily K,							182.0	177.0	178.0					1																	158724824		2203	4300	6503	SO:0001583	missense	128371				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158724824G>T	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.219G>T	1.37:g.158724824G>T	ENSP00000357126:p.Met73Ile						p.M73I	NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN			1	219	+	all_hematologic(112;0.0378)		73			Helical; Name=1; (Potential).		B9EIM8|Q5VUU9|Q6IFR4	Missense_Mutation	SNP	ENST00000368144.2	37	c.219G>T	CCDS30904.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.351183	0.00219	.	.	ENSG00000180433	ENST00000368144	T	0.00330	8.08	5.21	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.151148	0.29799	N	0.011166	T	0.00012	0.0000	N	0.00230	-1.795	0.09310	N	0.999994	B	0.02656	0.0	B	0.01281	0.0	T	0.33523	-0.9865	10	0.02654	T	1	-10.4059	1.2067	0.01896	0.3425:0.3169:0.0953:0.2452	.	73	Q8NGW6	OR6K6_HUMAN	I	73	ENSP00000357126:M73I	ENSP00000357126:M73I	M	+	3	0	OR6K6	156991448	0.000000	0.05858	0.982000	0.44146	0.228000	0.25075	-1.645000	0.02000	0.435000	0.26365	-0.302000	0.09304	ATG		0.468	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059065.2	NM_001005184		32	125	1	0	1.46e-13	2.75e-13	32	125				
CFAP45	25790	broad.mit.edu	37	1	159850454	159850454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:159850454G>A	ENST00000368099.4	-	8	998	c.934C>T	c.(934-936)Caa>Taa	p.Q312*	CCDC19_ENST00000426543.2_Nonsense_Mutation_p.Q227*|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATCTCAGCTTGCATCTTCAGT	0.468																																						uc001fui.2		NA																	0				ovary(1)	1						c.(934-936)CAA>TAA		nasopharyngeal epithelium specific protein 1							139.0	117.0	124.0					1																	159850454		2203	4300	6503	SO:0001587	stop_gained	25790					mitochondrion|soluble fraction		g.chr1:159850454G>A																												ENST00000368099.4:c.934C>T	1.37:g.159850454G>A	ENSP00000357079:p.Gln312*					CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Nonsense_Mutation_p.Q227*|CCDC19_uc001ful.2_Nonsense_Mutation_p.Q227*|CCDC19_uc009wtc.1_Nonsense_Mutation_p.Q298*	p.Q312*	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		8	952	-	all_hematologic(112;0.0597)		312			Potential.			Nonsense_Mutation	SNP	ENST00000368099.4	37	c.934C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	42	9.594764	0.99214	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	.	.	.	5.07	4.14	0.48551	.	0.433637	0.25869	N	0.027775	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-19.4272	13.216	0.59861	0.0:0.1614:0.8386:0.0	.	.	.	.	X	312;227	.	.	Q	-	1	0	CCDC19	158117078	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.441000	0.80485	1.096000	0.41439	0.462000	0.41574	CAA		0.468	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			16	65	0	0	0	0	16	65				
DDR2	4921	broad.mit.edu	37	1	162724444	162724444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:162724444G>A	ENST00000367922.3	+	6	654	c.216G>A	c.(214-216)tgG>tgA	p.W72*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W72*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	72	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				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)	ATGGAGCCTGGTGCCCTGAGA	0.557																																					NSCLC(161;314 2006 8283 19651 23192)	uc001gcf.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|kidney(1)	6						c.(214-216)TGG>TGA		discoidin domain receptor family, member 2							95.0	97.0	96.0					1																	162724444		2203	4300	6503	SO:0001587	stop_gained	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162724444G>A	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.216G>A	1.37:g.162724444G>A	ENSP00000356899:p.Trp72*					DDR2_uc001gcg.2_Nonsense_Mutation_p.W72*	p.W72*	NM_001014796	NP_001014796	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		6	681	+	all_hematologic(112;0.115)		72			Extracellular (Potential).|F5/8 type C.		Q7Z730	Nonsense_Mutation	SNP	ENST00000367922.3	37	c.216G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	35	5.466083	0.96257	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	.	.	.	5.37	4.45	0.53987	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1683	0.65493	0.0:0.0:0.8488:0.1512	.	.	.	.	X	72	.	ENSP00000356898:W72X	W	+	3	0	DDR2	160991068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	1.238000	0.43771	0.650000	0.86243	TGG		0.557	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		38	74	0	0	0	0	38	74				
RXRG	6258	broad.mit.edu	37	1	165377463	165377464	+	Splice_Site	DNP	CC	CC	AA			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:165377463_165377464CC>AA	ENST00000359842.5	-	8	1440_1441	c.1138_1139GG>TT	c.(1138-1140)GGt>TTt	p.G380F	RXRG_ENST00000470566.1_5'Flank	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	380	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AGGGCGGTTACCTGGGTTAAAG	0.515																																						uc001gda.2		NA																	0					0						c.e8+1		retinoid X receptor, gamma isoform a	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)																																			SO:0001630	splice_region_variant	6258				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr1:165377463_165377464CC>AA	U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1138_1139delinsAA	1.37:g.165377463_165377464delinsAA							p.D380_splice	NM_006917	NP_008848	P48443	RXRG_HUMAN			8	1438	-	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)							A6NIP1|Q6IBU7	Splice_Site	DNP	ENST00000359842.5	37	c.1138_splice	CCDS1248.1																																																																																				0.515	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917	Missense_Mutation	34	66	0	0	0	0	34	66				
DUSP27	92235	broad.mit.edu	37	1	167097589	167097589	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:167097589C>T	ENST00000361200.2	+	6	3387	c.3221C>T	c.(3220-3222)tCa>tTa	p.S1074L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S1074L|DUSP27_ENST00000443333.1_Missense_Mutation_p.S1074L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1074					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGGAAGAGTCATCCAAGTCA	0.522																																						uc001geb.1		NA																	0				ovary(3)	3						c.(3220-3222)TCA>TTA		dual specificity phosphatase 27							38.0	40.0	39.0					1																	167097589		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167097589C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3221C>T	1.37:g.167097589C>T	ENSP00000354483:p.Ser1074Leu						p.S1074L	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	3221	+			1074					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.3221C>T	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698898	0.68501	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03920	3.76;3.76;3.76	5.29	5.29	0.74685	.	0.000000	0.41938	D	0.000781	T	0.05547	0.0146	M	0.65975	2.015	0.38219	D	0.940682	P	0.47762	0.9	P	0.44811	0.461	T	0.06881	-1.0802	10	0.87932	D	0	-7.4461	14.4272	0.67225	0.0:1.0:0.0:0.0	.	1074	Q5VZP5	DUS27_HUMAN	L	1074	ENSP00000354483:S1074L;ENSP00000271385:S1074L;ENSP00000404874:S1074L	ENSP00000271385:S1074L	S	+	2	0	DUSP27	165364213	0.978000	0.34361	1.000000	0.80357	0.985000	0.73830	2.683000	0.46943	2.461000	0.83175	0.549000	0.68633	TCA		0.522	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		10	14	0	0	0	0	10	14				
SELL	6402	broad.mit.edu	37	1	169673747	169673747	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:169673747G>T	ENST00000236147.4	-	5	927	c.767C>A	c.(766-768)cCa>cAa	p.P256Q	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	243	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					GTTTCCAAATGGTCCACAGGT	0.463																																						uc001ggk.2		NA																	0					0						c.(727-729)CCA>CAA		selectin L precursor							69.0	66.0	67.0					1																	169673747		1871	4104	5975	SO:0001583	missense	6402				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding	g.chr1:169673747G>T	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.767C>A	1.37:g.169673747G>T	ENSP00000236147:p.Pro256Gln					C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.P196Q|SELL_uc001ggl.1_Missense_Mutation_p.P256Q	p.P243Q	NM_000655	NP_000646	P14151	LYAM1_HUMAN			5	926	-	all_hematologic(923;0.208)		243			Extracellular (Potential).|Sushi 1.		B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	c.728C>A	CCDS53427.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.139011	0.56936	.	.	ENSG00000188404	ENST00000236147	T	0.63255	-0.03	5.72	3.79	0.43588	Complement control module (2);Sushi/SCR/CCP (3);	0.539023	0.16966	N	0.192295	T	0.45895	0.1365	L	0.50919	1.6	0.27405	N	0.95474	D;P	0.54397	0.966;0.939	P;P	0.49192	0.602;0.602	T	0.25257	-1.0137	10	0.36615	T	0.2	-4.1136	9.7924	0.40715	0.0776:0.1398:0.7826:0.0	.	256;243	Q8WW79;P14151	.;LYAM1_HUMAN	Q	256	ENSP00000236147:P256Q	ENSP00000236147:P256Q	P	-	2	0	SELL	167940371	0.160000	0.22878	0.773000	0.31616	0.773000	0.43773	2.402000	0.44521	1.418000	0.47098	-0.140000	0.14226	CCA		0.463	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655		3	3	1	0	0.004672	0.00669548	3	3				
KIFAP3	22920	broad.mit.edu	37	1	169941740	169941740	+	Splice_Site	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:169941740C>G	ENST00000361580.2	-	17	2125		c.e17-1		KIFAP3_ENST00000367765.1_Splice_Site|KIFAP3_ENST00000540905.1_Splice_Site|KIFAP3_ENST00000367767.1_Splice_Site|KIFAP3_ENST00000538366.1_Splice_Site	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTGGAGCCTCTGAATAAAAA	0.279																																						uc001ggv.2		NA																	0				skin(1)	1						c.e17-1		kinesin-associated protein 3							44.0	44.0	44.0					1																	169941740		2197	4282	6479	SO:0001630	splice_region_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169941740C>G	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1898-1G>C	1.37:g.169941740C>G						KIFAP3_uc010plx.1_Splice_Site_p.Q335_splice	p.Q633_splice	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			17	2169	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)							B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Splice_Site	SNP	ENST00000361580.2	37	c.1898_splice	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491159	0.84962	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000540905;ENST00000538366	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0444	0.93013	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIFAP3	168208364	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.412000	0.80091	2.645000	0.89757	0.650000	0.86243	.		0.279	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970	Intron	7	18	0	0	0	0	7	18				
MROH9	80133	broad.mit.edu	37	1	170961417	170961417	+	Missense_Mutation	SNP	G	G	A	rs371741888		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:170961417G>A	ENST00000367758.3	+	12	1240	c.1141G>A	c.(1141-1143)Gta>Ata	p.V381I	MROH9_ENST00000367759.4_Missense_Mutation_p.V381I	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	381								p.V381I(1)									GGAGGACACCGTAACGGAAGG	0.473																																						uc001ghg.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(1)	1						c.(1141-1143)GTA>ATA		hypothetical protein LOC80133 isoform 2							156.0	160.0	159.0					1																	170961417		1990	4155	6145	SO:0001583	missense	80133						binding	g.chr1:170961417G>A	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1141G>A	1.37:g.170961417G>A	ENSP00000356732:p.Val381Ile					C1orf129_uc009wvy.2_Missense_Mutation_p.V188I|C1orf129_uc010plz.1_Missense_Mutation_p.V381I	p.V381I	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			12	1271	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		381					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1141G>A	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	g	5.115	0.206809	0.09704	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.15017	4.07;2.46	5.61	-11.2	0.00127	.	2.101470	0.02171	N	0.059686	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.31364	-0.9946	10	0.13853	T	0.58	6.9975	2.6339	0.04952	0.5008:0.1762:0.1361:0.1869	.	381;381	F5GWX6;Q5TGP6	.;CA129_HUMAN	I	381	ENSP00000356733:V381I;ENSP00000356732:V381I	ENSP00000356732:V381I	V	+	1	0	C1orf129	169228041	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.692000	0.00198	-3.327000	0.00186	-2.062000	0.00397	GTA		0.473	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		17	75	0	0	0	0	17	75				
TNFSF18	8995	broad.mit.edu	37	1	173010716	173010716	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:173010716C>T	ENST00000404377.3	-	3	391	c.391G>A	c.(391-393)Gat>Aat	p.D131N	RP1-15D23.2_ENST00000432694.2_lincRNA|TNFSF18_ENST00000239468.2_Missense_Mutation_p.D109N	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	131					cell-cell signaling (GO:0007267)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of T cell proliferation (GO:0042129)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GGAGCTACATCATTGTAGTTT	0.383																																						uc001giu.2		NA																	0				central_nervous_system(1)	1						c.(391-393)GAT>AAT		tumor necrosis factor (ligand) superfamily,							128.0	127.0	127.0					1																	173010716		2203	4300	6503	SO:0001583	missense	8995				anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr1:173010716C>T	AF117713	CCDS1305.2	1q23	2008-02-05			ENSG00000120337	ENSG00000120337		"""Tumor necrosis factor (ligand) superfamily"""	11932	protein-coding gene	gene with protein product		603898				10037686, 10074428	Standard	NM_005092		Approved	AITRL, TL6, hGITRL	uc001giu.2	Q9UNG2	OTTHUMG00000034835	ENST00000404377.3:c.391G>A	1.37:g.173010716C>T	ENSP00000385470:p.Asp131Asn						p.D131N	NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN			3	392	-			131			Extracellular (Potential).		A9IQG8|O95852|Q6ISV1	Missense_Mutation	SNP	ENST00000404377.3	37	c.391G>A	CCDS1305.2	.	.	.	.	.	.	.	.	.	.	C	8.856	0.945741	0.18356	.	.	ENSG00000120337	ENST00000404377;ENST00000239468	D;D	0.94687	-3.49;-3.49	5.37	3.08	0.35506	Tumour necrosis factor (1);Tumour necrosis factor-like (2);	1.049680	0.07450	N	0.898952	T	0.81009	0.4734	N	0.19112	0.55	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.74006	-0.3803	10	0.52906	T	0.07	-1.0E-4	5.3952	0.16265	0.0:0.7102:0.0:0.2898	.	131	Q9UNG2	TNF18_HUMAN	N	131;109	ENSP00000385470:D131N;ENSP00000239468:D109N	ENSP00000239468:D109N	D	-	1	0	TNFSF18	171277339	0.001000	0.12720	0.027000	0.17364	0.417000	0.31264	1.047000	0.30367	1.379000	0.46325	0.655000	0.94253	GAT		0.383	TNFSF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084268.2	NM_005092		40	92	0	0	0	0	40	92				
TNN	63923	broad.mit.edu	37	1	175049390	175049390	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:175049390C>A	ENST00000239462.4	+	4	989	c.876C>A	c.(874-876)ctC>ctA	p.L292L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	292	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ATCACTACCTCCTCAGCTACT	0.592																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(874-876)CTC>CTA		tenascin N precursor							73.0	72.0	72.0					1																	175049390		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049390C>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.876C>A	1.37:g.175049390C>A						TNN_uc010pmx.1_Silent_p.L292L	p.L292L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	989	+		Breast(1374;0.000962)	292			Fibronectin type-III 1.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.876C>A	CCDS30943.1																																																																																				0.592	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		18	37	1	0	5.39e-06	8.68e-06	18	37				
TNN	63923	broad.mit.edu	37	1	175054604	175054604	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:175054604A>G	ENST00000239462.4	+	6	1411	c.1298A>G	c.(1297-1299)aAg>aGg	p.K433R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	433	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGGAGGGCAAGCCGATCCTC	0.532																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1297-1299)AAG>AGG		tenascin N precursor							65.0	56.0	59.0					1																	175054604		2203	4299	6502	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175054604A>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1298A>G	1.37:g.175054604A>G	ENSP00000239462:p.Lys433Arg					TNN_uc010pmx.1_Missense_Mutation_p.K433R	p.K433R	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	6	1411	+		Breast(1374;0.000962)	433			Fibronectin type-III 2.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1298A>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	A	5.246	0.230908	0.09969	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.26518	1.73	5.76	3.4	0.38934	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.046397	0.85682	N	0.000000	T	0.36580	0.0972	M	0.74258	2.255	0.31406	N	0.676085	B;B	0.33857	0.288;0.429	B;P	0.45946	0.158;0.498	T	0.38178	-0.9673	10	0.31617	T	0.26	.	8.295	0.31980	0.797:0.1337:0.0693:0.0	.	433;433	B3KXB6;Q9UQP3	.;TENN_HUMAN	R	433	ENSP00000239462:K433R	ENSP00000239462:K433R	K	+	2	0	TNN	173321227	0.822000	0.29219	0.988000	0.46212	0.065000	0.16274	2.046000	0.41260	0.424000	0.26061	-0.256000	0.11100	AAG		0.532	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	16	0	0	0	0	6	16				
TNN	63923	broad.mit.edu	37	1	175067479	175067479	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:175067479C>G	ENST00000239462.4	+	9	1980	c.1867C>G	c.(1867-1869)Ccc>Gcc	p.P623A		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	623	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TATTGACAGCCCCAAAAACCT	0.507																																						uc001gkl.1		NA																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1867-1869)CCC>GCC		tenascin N precursor							105.0	117.0	113.0					1																	175067479		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175067479C>G	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1867C>G	1.37:g.175067479C>G	ENSP00000239462:p.Pro623Ala					TNN_uc010pmx.1_Missense_Mutation_p.P534A	p.P623A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	9	1980	+		Breast(1374;0.000962)	623			Fibronectin type-III 5.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1867C>G	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.356923	0.82243	.	.	ENSG00000120332	ENST00000239462	T	0.16457	2.34	5.23	5.23	0.72850	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54870	0.1885	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68277	-0.5451	10	0.87932	D	0	.	16.955	0.86257	0.0:1.0:0.0:0.0	.	623;623	B3KXB6;Q9UQP3	.;TENN_HUMAN	A	623	ENSP00000239462:P623A	ENSP00000239462:P623A	P	+	1	0	TNN	173334102	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	5.219000	0.65262	2.598000	0.87819	0.460000	0.39030	CCC		0.507	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		40	122	0	0	0	0	40	122				
ABL2	27	broad.mit.edu	37	1	179077050	179077050	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:179077050C>A	ENST00000502732.1	-	12	3555	c.3352G>T	c.(3352-3354)Gac>Tac	p.D1118Y	ABL2_ENST00000507173.1_Missense_Mutation_p.D994Y|ABL2_ENST00000504405.1_Missense_Mutation_p.D979Y|ABL2_ENST00000512653.1_Missense_Mutation_p.D1103Y|ABL2_ENST00000367623.4_Missense_Mutation_p.D1097Y|ABL2_ENST00000344730.3_Missense_Mutation_p.D1000Y|ABL2_ENST00000408940.3_Missense_Mutation_p.D1082Y|ABL2_ENST00000511413.1_Missense_Mutation_p.D1015Y	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1118	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GAGCAGTAGTCAAGCAGCTGG	0.552			T	ETV6	AML																																	uc001gmj.3		NA		Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(3352-3354)GAC>TAC		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						80.0	70.0	74.0					1																	179077050		2203	4300	6503	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077050C>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3352G>T	1.37:g.179077050C>A	ENSP00000427562:p.Asp1118Tyr					ABL2_uc010pnf.1_Missense_Mutation_p.D1015Y|ABL2_uc010png.1_Missense_Mutation_p.D994Y|ABL2_uc010pnh.1_Missense_Mutation_p.D1097Y|ABL2_uc001gmg.3_Missense_Mutation_p.D1000Y|ABL2_uc001gmi.3_Missense_Mutation_p.D1103Y|ABL2_uc001gmh.3_Missense_Mutation_p.D1082Y|ABL2_uc010pne.1_Missense_Mutation_p.D979Y	p.D1118Y	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	3639	-			1118			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.3352G>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.860009	0.51482	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.65	4.73	0.59995	F-actin binding (2);	0.000000	0.53938	D	0.000043	T	0.51568	0.1682	L	0.56769	1.78	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.997;0.993;0.993;0.996;0.997;0.997;0.997;0.996	D;D;D;D;D;D;D;D	0.72625	0.962;0.924;0.924;0.918;0.978;0.962;0.978;0.924	T	0.52283	-0.8596	10	0.49607	T	0.09	.	15.9259	0.79615	0.0:0.8651:0.1349:0.0	.	1097;994;1015;979;1118;1103;1082;1000	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	Y	1118;1082;1000;1103;979;1097;994;1015	ENSP00000427562:D1118Y;ENSP00000386152:D1082Y;ENSP00000339209:D1000Y;ENSP00000423578:D1103Y;ENSP00000426831:D979Y;ENSP00000356595:D1097Y;ENSP00000423413:D994Y;ENSP00000424697:D1015Y	ENSP00000339209:D1000Y	D	-	1	0	ABL2	177343673	0.995000	0.38212	0.997000	0.53966	0.995000	0.86356	3.275000	0.51639	1.357000	0.45904	0.655000	0.94253	GAC		0.552	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		15	45	1	0	7.93e-07	1.31e-06	15	45				
TDRD5	163589	broad.mit.edu	37	1	179632540	179632540	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:179632540C>T	ENST00000367614.1	+	15	2760	c.2401C>T	c.(2401-2403)Ctt>Ttt	p.L801F	TDRD5_ENST00000444136.1_Missense_Mutation_p.L855F|TDRD5_ENST00000294848.8_Missense_Mutation_p.L801F	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	801					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCCTTCAGGCCTTGTAAATGG	0.398																																						uc001gnf.1		NA																	0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(2401-2403)CTT>TTT		tudor domain containing 5							111.0	104.0	106.0					1																	179632540		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179632540C>T	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2401C>T	1.37:g.179632540C>T	ENSP00000356586:p.Leu801Phe					TDRD5_uc010pnp.1_Missense_Mutation_p.L855F|TDRD5_uc001gnh.1_Missense_Mutation_p.L356F	p.L801F	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN			15	2651	+			801					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.2401C>T	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	C	5.480	0.273631	0.10403	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.37915	2.41;2.41;2.49;1.17	5.18	0.553	0.17235	.	0.999707	0.08090	N	0.999388	T	0.30634	0.0771	L	0.49350	1.555	0.09310	N	1	B;B	0.23249	0.082;0.012	B;B	0.25140	0.058;0.009	T	0.33007	-0.9885	10	0.38643	T	0.18	-37.7485	5.3782	0.16176	0.0:0.5612:0.1526:0.2862	.	855;801	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	F	801;801;855;311	ENSP00000356586:L801F;ENSP00000294848:L801F;ENSP00000406052:L855F;ENSP00000410744:L311F	ENSP00000294848:L801F	L	+	1	0	TDRD5	177899163	0.996000	0.38824	0.993000	0.49108	0.116000	0.19942	1.503000	0.35715	0.200000	0.20447	-0.837000	0.03062	CTT		0.398	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		16	45	0	0	0	0	16	45				
CEP350	9857	broad.mit.edu	37	1	180061771	180061771	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:180061771G>C	ENST00000367607.3	+	34	6949	c.6531G>C	c.(6529-6531)gaG>gaC	p.E2177D	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2177					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						CTGGTTCTGAGAGATCAGTAT	0.348																																						uc001gnt.2		NA																	0				ovary(4)	4						c.(6529-6531)GAG>GAC		centrosome-associated protein 350							64.0	61.0	62.0					1																	180061771		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180061771G>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.6531G>C	1.37:g.180061771G>C	ENSP00000356579:p.Glu2177Asp					CEP350_uc009wxl.2_Missense_Mutation_p.E2176D|CEP350_uc001gnv.2_Missense_Mutation_p.E312D|CEP350_uc001gnw.1_5'UTR|CEP350_uc001gnx.1_5'UTR	p.E2177D	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			34	6914	+			2177					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.6531G>C	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.60|12.60	1.985819|1.985819	0.35036|0.35036	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000429851	T|T	0.59364|0.76578	0.27|-1.03	5.67|5.67	0.364|0.364	0.16124|0.16124	.|.	0.263979|0.263979	0.26338|0.26338	N|N	0.024943|0.024943	T|T	0.70780|0.70780	0.3263|0.3263	L|L	0.57536|0.57536	1.79|1.79	0.28211|0.28211	N|N	0.926917|0.926917	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.06405|.	0.002;0.001|.	T|T	0.61023|0.61023	-0.7146|-0.7146	9|7	.|.	.|.	.|.	.|.	2.8657|2.8657	0.05601|0.05601	0.2044:0.1211:0.5494:0.1251|0.2044:0.1211:0.5494:0.1251	.|.	2177;2177|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	D|Q	2177|352	ENSP00000356579:E2177D|ENSP00000412460:E352Q	.|.	E|E	+|+	3|1	2|0	CEP350|CEP350	178328394|178328394	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.492000|0.492000	0.33523|0.33523	0.770000|0.770000	0.26618|0.26618	0.048000|0.048000	0.15891|0.15891	0.655000|0.655000	0.94253|0.94253	GAG|GAG		0.348	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		8	16	0	0	0	0	8	16				
CACNA1E	777	broad.mit.edu	37	1	181705563	181705563	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:181705563A>T	ENST00000367573.2	+	22	3415	c.3415A>T	c.(3415-3417)Acc>Tcc	p.T1139S	CACNA1E_ENST00000360108.3_Missense_Mutation_p.T1120S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.T1120S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T1071S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T746S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T1090S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T1139S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1139					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						CTTCAGCACCACCAACCCGTA	0.577																																						uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3415-3417)ACC>TCC		calcium channel, voltage-dependent, R type,							81.0	98.0	93.0					1																	181705563		2145	4243	6388	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181705563A>T	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.3415A>T	1.37:g.181705563A>T	ENSP00000356545:p.Thr1139Ser					CACNA1E_uc009wxs.2_Missense_Mutation_p.T1027S|CACNA1E_uc001gox.1_Missense_Mutation_p.T365S|CACNA1E_uc009wxt.2_Missense_Mutation_p.T365S	p.T1139S	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			22	3580	+			1139			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.3415A>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	15.95	2.984526	0.53934	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04;1.04	5.28	5.28	0.74379	.	0.369961	0.33199	N	0.005179	T	0.44726	0.1307	M	0.65498	2.005	0.47905	D	0.999541	B;B;B	0.10296	0.001;0.003;0.0	B;B;B	0.12837	0.002;0.008;0.002	T	0.42649	-0.9439	10	0.66056	D	0.02	.	14.8629	0.70394	1.0:0.0:0.0:0.0	.	1120;1139;1139	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	S	1139;1120;1090;1071;746;1120;1139	ENSP00000356542:T1139S;ENSP00000434814:T1120S;ENSP00000350183:T1090S;ENSP00000351101:T1071S;ENSP00000356539:T746S;ENSP00000353222:T1120S;ENSP00000356545:T1139S	ENSP00000350183:T1090S	T	+	1	0	CACNA1E	179972186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.737000	0.47393	1.990000	0.58119	0.454000	0.30748	ACC		0.577	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		5	13	0	0	0	0	5	13				
CACNA1E	777	broad.mit.edu	37	1	181754552	181754552	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:181754552C>G	ENST00000367573.2	+	42	5677	c.5677C>G	c.(5677-5679)Cag>Gag	p.Q1893E	CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1874E|CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q1874E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1825E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1500E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1844E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1893E	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1893					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)	p.Q1893E(1)		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						GCTGGAGGAACAGGTGAAAGT	0.537																																						uc001gow.2		NA																	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5677-5679)CAG>GAG		calcium channel, voltage-dependent, R type,							59.0	61.0	60.0					1																	181754552		2131	4248	6379	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181754552C>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.5677C>G	1.37:g.181754552C>G	ENSP00000356545:p.Gln1893Glu					CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1781E|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1119E	p.Q1893E	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			42	5842	+			1893			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5677C>G	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538974	0.85917	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	L	0.47716	1.5	0.80722	D	1	P;D	0.58268	0.831;0.982	B;D	0.70227	0.319;0.968	T	0.71978	-0.4429	10	0.41790	T	0.15	.	19.3614	0.94440	0.0:1.0:0.0:0.0	.	1874;1893	Q15878-2;Q15878-3	.;.	E	1893;1874;1844;1825;1500;1874;1893	ENSP00000356542:Q1893E;ENSP00000434814:Q1874E;ENSP00000350183:Q1844E;ENSP00000351101:Q1825E;ENSP00000356539:Q1500E;ENSP00000353222:Q1874E;ENSP00000356545:Q1893E	ENSP00000350183:Q1844E	Q	+	1	0	CACNA1E	180021175	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	2.735000	0.93741	0.655000	0.94253	CAG		0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		6	19	0	0	0	0	6	19				
CACNA1E	777	broad.mit.edu	37	1	181759621	181759621	+	Missense_Mutation	SNP	C	C	T	rs549170593		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:181759621C>T	ENST00000367573.2	+	44	5827	c.5827C>T	c.(5827-5829)Ccc>Tcc	p.P1943S	CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1924S|CACNA1E_ENST00000526775.1_Missense_Mutation_p.P1924S|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1875S|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1550S|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1894S|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1943S	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1943					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						TCCACTCTCTCCCCAGGATAT	0.498													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16179	0.0		0.0	False		,,,				2504	0.0					uc001gow.2		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(5827-5829)CCC>TCC		calcium channel, voltage-dependent, R type,							92.0	101.0	98.0					1																	181759621		1928	4112	6040	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181759621C>T	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.5827C>T	1.37:g.181759621C>T	ENSP00000356545:p.Pro1943Ser					CACNA1E_uc009wxs.2_Missense_Mutation_p.P1831S|CACNA1E_uc009wxt.2_Missense_Mutation_p.P1169S	p.P1943S	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			44	5992	+			1943			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5827C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137642	0.77775	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96168	-3.85;-3.86;-3.77;-3.86;-3.93;-3.77;-3.77	5.54	5.54	0.83059	.	0.370917	0.30732	N	0.009000	D	0.94551	0.8245	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.80764	0.994;0.991	D	0.94424	0.7643	10	0.30854	T	0.27	.	19.077	0.93167	0.0:1.0:0.0:0.0	.	1924;1943	Q15878-2;Q15878-3	.;.	S	1943;1924;1894;1875;1550;1924;1943	ENSP00000356542:P1943S;ENSP00000434814:P1924S;ENSP00000350183:P1894S;ENSP00000351101:P1875S;ENSP00000356539:P1550S;ENSP00000353222:P1924S;ENSP00000356545:P1943S	ENSP00000350183:P1894S	P	+	1	0	CACNA1E	180026244	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	5.177000	0.65032	2.595000	0.87683	0.655000	0.94253	CCC		0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		9	35	0	0	0	0	9	35				
GLUL	2752	broad.mit.edu	37	1	182354693	182354693	+	Splice_Site	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:182354693T>C	ENST00000331872.6	-	6	1144		c.e6-2		GLUL_ENST00000417584.2_Splice_Site|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Splice_Site|GLUL_ENST00000339526.4_Splice_Site	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	AAATTCCCACTAGAAACGAGA	0.463																																						uc001gpa.1		NA																	0					0						c.e6-1		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						79.0	78.0	78.0					1																	182354693		2203	4300	6503	SO:0001630	splice_region_variant	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182354693T>C	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.604-2A>G	1.37:g.182354693T>C						GLUL_uc010pnt.1_5'UTR|GLUL_uc001gpb.1_Splice_Site_p.W202_splice|GLUL_uc001gpc.1_Splice_Site_p.W202_splice|GLUL_uc001gpd.1_Splice_Site_p.W202_splice	p.W202_splice	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			6	816	-								Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Splice_Site	SNP	ENST00000331872.6	37	c.604_splice	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	T	17.34	3.365368	0.61513	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526;ENST00000435013	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1765	0.59630	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GLUL	180621316	1.000000	0.71417	0.985000	0.45067	0.709000	0.40893	5.031000	0.64134	2.055000	0.61198	0.533000	0.62120	.		0.463	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065	Intron	19	51	0	0	0	0	19	51				
TRMT1L	81627	broad.mit.edu	37	1	185114616	185114616	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:185114616T>A	ENST00000367506.5	-	5	878	c.610A>T	c.(610-612)Agg>Tgg	p.R204W	TRMT1L_ENST00000367504.3_Missense_Mutation_p.R48W	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	204					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ATGTGGCGCCTAACATGTCCT	0.343																																						uc001grf.3		NA																	0					0						c.(610-612)AGG>TGG		N2,N2-dimethylguanosine tRNA							191.0	179.0	183.0					1																	185114616		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185114616T>A	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.610A>T	1.37:g.185114616T>A	ENSP00000356476:p.Arg204Trp					C1orf25_uc010pon.1_Missense_Mutation_p.R48W	p.R204W	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			5	882	-			204			C2H2-type.		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.610A>T	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	T	34	5.356179	0.95854	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.66	5.66	0.87406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.212046	0.56097	D	0.000028	T	0.36635	0.0974	N	0.08118	0	0.35675	D	0.813641	P	0.49358	0.923	P	0.46172	0.506	T	0.55755	-0.8091	9	0.87932	D	0	-11.8141	16.188	0.81967	0.0:0.0:0.0:1.0	.	204	Q7Z2T5	TRM1L_HUMAN	W	48;204	.	ENSP00000356474:R48W	R	-	1	2	TRMT1L	183381239	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.236000	0.78154	2.270000	0.75569	0.533000	0.62120	AGG		0.343	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934		20	61	0	0	0	0	20	61				
BRINP3	339479	broad.mit.edu	37	1	190067933	190067933	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:190067933T>A	ENST00000367462.3	-	8	1747	c.1516A>T	c.(1516-1518)Aga>Tga	p.R506*	BRINP3_ENST00000534846.1_Nonsense_Mutation_p.R404*	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	506					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											TCTATTCGTCTGTCCGTTTTC	0.488																																						uc001gse.1		NA																	0				lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1516-1518)AGA>TGA		family with sequence similarity 5, member C							160.0	153.0	155.0					1																	190067933		2203	4300	6503	SO:0001587	stop_gained	339479					extracellular region		g.chr1:190067933T>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1516A>T	1.37:g.190067933T>A	ENSP00000356432:p.Arg506*					FAM5C_uc010pot.1_Nonsense_Mutation_p.R404*	p.R506*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1748	-	Prostate(682;0.198)		506					B3KVP1|B7Z260|O95726|Q2M330	Nonsense_Mutation	SNP	ENST00000367462.3	37	c.1516A>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609146	0.87258	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	.	.	.	5.75	-3.81	0.04294	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	18.4403	0.90664	0.0:0.0:0.7423:0.2577	.	.	.	.	X	506;404	.	ENSP00000356432:R506X	R	-	1	2	FAM5C	188334556	0.277000	0.24220	0.066000	0.19879	0.934000	0.57294	-0.583000	0.05807	-0.174000	0.10743	-0.435000	0.05868	AGA		0.488	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		53	127	0	0	0	0	53	127				
PTPRC	5788	broad.mit.edu	37	1	198721748	198721748	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:198721748A>T	ENST00000367376.2	+	31	3521	c.3350A>T	c.(3349-3351)cAg>cTg	p.Q1117L	PTPRC_ENST00000348564.6_Missense_Mutation_p.Q958L|PTPRC_ENST00000442510.2_Missense_Mutation_p.Q1119L|PTPRC_ENST00000352140.3_Missense_Mutation_p.Q1069L|PTPRC_ENST00000594404.1_Missense_Mutation_p.Q956L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1117	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACTGTGTACCAGTACCAATAT	0.378																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(3349-3351)CAG>CTG		protein tyrosine phosphatase, receptor type, C							72.0	75.0	74.0					1																	198721748		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198721748A>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3350A>T	1.37:g.198721748A>T	ENSP00000356346:p.Gln1117Leu					PTPRC_uc001gus.1_Missense_Mutation_p.Q1069L|PTPRC_uc001gut.1_Missense_Mutation_p.Q956L	p.Q1117L	NM_002838	NP_002829	P08575	PTPRC_HUMAN			31	3530	+			1117			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.3350A>T		.	.	.	.	.	.	.	.	.	.	A	24.3	4.512030	0.85389	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T;T	0.15487	2.42;2.48	6.16	6.16	0.99307	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.47455	D	0.000221	T	0.49729	0.1574	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.57802	-0.7748	10	0.87932	D	0	.	15.3771	0.74615	1.0:0.0:0.0:0.0	.	958;1069;1117	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	L	1119;1069;1117;956	ENSP00000356346:Q1119L;ENSP00000193532:Q1069L	ENSP00000306782:Q956L	Q	+	2	0	PTPRC	196988371	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	5.578000	0.67450	2.367000	0.80283	0.528000	0.53228	CAG		0.378	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	39	0	0	0	0	10	39				
CAMSAP2	23271	broad.mit.edu	37	1	200826433	200826433	+	Splice_Site	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:200826433G>C	ENST00000236925.4	+	17	4094		c.e17-1		CAMSAP2_ENST00000358823.2_Splice_Site|CAMSAP2_ENST00000413307.2_Splice_Site			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2						microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)										CCCTACCATAGGACCAAAGCT	0.323																																						uc001gvl.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.e17-1		calmodulin regulated spectrin-associated protein							65.0	65.0	65.0					1																	200826433		2203	4300	6503	SO:0001630	splice_region_variant	23271					cytoplasm|microtubule	protein binding	g.chr1:200826433G>C	AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.4046-1G>C	1.37:g.200826433G>C						CAMSAP1L1_uc001gvk.2_Splice_Site_p.G1338_splice|CAMSAP1L1_uc001gvm.2_Splice_Site_p.G1322_splice	p.G1349_splice	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN			17	4316	+								B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Splice_Site	SNP	ENST00000236925.4	37	c.4046_splice		.	.	.	.	.	.	.	.	.	.	G	18.76	3.692710	0.68271	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925;ENST00000475326	.	.	.	5.66	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.4664	0.67488	0.0708:0.0:0.9292:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAMSAP1L1	199093056	1.000000	0.71417	0.999000	0.59377	0.919000	0.55068	9.864000	0.99589	1.374000	0.46228	0.467000	0.42956	.		0.323	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	Intron	10	25	0	0	0	0	10	25				
KIF21B	23046	broad.mit.edu	37	1	200948800	200948800	+	Silent	SNP	G	G	T	rs144601295		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:200948800G>T	ENST00000422435.2	-	30	4339	c.4023C>A	c.(4021-4023)atC>atA	p.I1341I	KIF21B_ENST00000461742.2_Silent_p.I1341I|KIF21B_ENST00000332129.2_Silent_p.I1328I|KIF21B_ENST00000360529.5_Silent_p.I1328I	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1341					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTAGAGCTGCGATCTCCTGTC	0.587											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gvs.1		NA																	0				ovary(3)|skin(3)	6						c.(4021-4023)ATC>ATA		kinesin family member 21B							258.0	248.0	252.0					1																	200948800		2203	4300	6503	SO:0001819	synonymous_variant	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200948800G>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4023C>A	1.37:g.200948800G>T			OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2118	KIF21B_uc001gvr.1_Silent_p.I1328I|KIF21B_uc009wzl.1_Silent_p.I1341I|KIF21B_uc010ppn.1_Silent_p.I1328I	p.I1341I	NM_017596	NP_060066	O75037	KI21B_HUMAN			30	4340	-			1341			WD 1.		B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	c.4023C>A	CCDS58056.1																																																																																				0.587	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		73	166	1	0	4.5e-31	9.47e-31	73	166				
CHIT1	1118	broad.mit.edu	37	1	203192687	203192687	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:203192687C>A	ENST00000367229.1	-	5	450	c.416G>T	c.(415-417)tGg>tTg	p.W139L	CHIT1_ENST00000255427.3_Missense_Mutation_p.W120L|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.W130L	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	139					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TGGGTACTCCCAGTCAAGGTC	0.582																																						uc001gzn.2		NA																	0					0						c.(415-417)TGG>TTG		chitotriosidase precursor							105.0	101.0	103.0					1																	203192687		2203	4300	6503	SO:0001583	missense	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203192687C>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.416G>T	1.37:g.203192687C>A	ENSP00000356198:p.Trp139Leu					FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Missense_Mutation_p.W130L	p.W139L	NM_003465	NP_003456	Q13231	CHIT1_HUMAN			5	512	-			139					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	c.416G>T	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.041966	0.75732	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.51071	0.72;0.72;0.72	5.0	3.1	0.35709	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.45867	D	0.000326	T	0.73651	0.3614	H	0.96398	3.815	0.44728	D	0.997728	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.73154	-0.4072	10	0.87932	D	0	-0.8542	5.9642	0.19316	0.3361:0.5742:0.0:0.0897	.	130;139	G5EA51;Q13231	.;CHIT1_HUMAN	L	139;120;130	ENSP00000356198:W139L;ENSP00000255427:W120L;ENSP00000438078:W130L	ENSP00000255427:W120L	W	-	2	0	CHIT1	201459310	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	3.092000	0.50207	0.481000	0.27557	0.643000	0.83706	TGG		0.582	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		42	83	1	0	9.86e-13	1.83e-12	42	83				
FCAMR	83953	broad.mit.edu	37	1	207131928	207131928	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:207131928A>T	ENST00000324852.4	-	8	2141	c.1667T>A	c.(1666-1668)aTg>aAg	p.M556K	FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	511					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						ATCCTGGAGCATCTTTCTTTC	0.537																																					Ovarian(199;1883 2142 16966 44409 45154)	uc001hfa.3		NA																	0				ovary(1)	1						c.(1666-1668)ATG>AAG		Fc receptor, IgA, IgM, high affinity isoform 2							109.0	100.0	103.0					1																	207131928		692	1591	2283	SO:0001583	missense	83953					integral to membrane|plasma membrane	receptor activity	g.chr1:207131928A>T	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1667T>A	1.37:g.207131928A>T	ENSP00000316491:p.Met556Lys					FCAMR_uc001hfb.2_3'UTR|FCAMR_uc009xca.1_3'UTR|FCAMR_uc001hfc.2_Missense_Mutation_p.M531K	p.M556K	NM_001122980	NP_001116452	Q8WWV6	FCAMR_HUMAN			8	2167	-			511			Cytoplasmic (Potential).		Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	37	c.1667T>A	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960491	0.53400	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.05139	3.49	4.73	-0.538	0.11868	.	0.830835	0.10440	N	0.674376	T	0.04679	0.0127	L	0.48642	1.525	0.09310	N	1	P;P	0.39551	0.483;0.678	B;B	0.33690	0.118;0.168	T	0.38001	-0.9681	10	0.87932	D	0	0.0976	0.44	0.00484	0.4307:0.186:0.2041:0.1791	.	531;511	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	K	556;514	ENSP00000316491:M556K	ENSP00000316491:M556K	M	-	2	0	FCAMR	205198551	0.000000	0.05858	0.001000	0.08648	0.564000	0.35744	-0.017000	0.12590	0.266000	0.21894	0.459000	0.35465	ATG		0.537	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029		28	62	0	0	0	0	28	62				
CR1	1378	broad.mit.edu	37	1	207790123	207790123	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:207790123C>G	ENST00000367049.4	+	41	6865	c.6865C>G	c.(6865-6867)Cgc>Ggc	p.R2289G	CR1_ENST00000367051.1_Missense_Mutation_p.R1839G|CR1_ENST00000400960.2_Missense_Mutation_p.R1839G|CR1_ENST00000367053.1_Missense_Mutation_p.R1839G|CR1_ENST00000367052.1_Missense_Mutation_p.R1839G	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1839					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCCTGCCCCTCGCTGTGAACT	0.507																																						uc001hfy.2		NA																	0				ovary(3)	3						c.(5515-5517)CGC>GGC		complement receptor 1 isoform F precursor							136.0	136.0	136.0					1																	207790123		1942	4137	6079	SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207790123C>G	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6865C>G	1.37:g.207790123C>G	ENSP00000356016:p.Arg2289Gly					CR1_uc001hfx.2_Missense_Mutation_p.R2289G	p.R1839G	NM_000573	NP_000564	P17927	CR1_HUMAN			33	5655	+			1839			Sushi 28.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	c.5515C>G	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	0.696	-0.792659	0.02884	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	4.15	-1.21	0.09524	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.69663	0.3136	M	0.87827	2.91	0.09310	N	1	P;D	0.58620	0.497;0.983	B;P	0.55999	0.224;0.789	T	0.58607	-0.7607	9	0.25751	T	0.34	.	3.9015	0.09164	0.1584:0.4697:0.0:0.3719	.	1839;2289	P17927;E9PDY4	CR1_HUMAN;.	G	1839;1839;1839;1839;2289	ENSP00000356019:R1839G;ENSP00000356018:R1839G;ENSP00000356020:R1839G;ENSP00000383744:R1839G;ENSP00000356016:R2289G	ENSP00000356016:R2289G	R	+	1	0	CR1	205856746	0.115000	0.22152	0.087000	0.20705	0.033000	0.12548	0.141000	0.16076	-0.194000	0.10399	-0.908000	0.02827	CGC		0.507	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		37	114	0	0	0	0	37	114				
USH2A	7399	broad.mit.edu	37	1	215847664	215847664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:215847664G>T	ENST00000307340.3	-	63	13975	c.13589C>A	c.(13588-13590)tCa>tAa	p.S4530*	USH2A_ENST00000366943.2_Nonsense_Mutation_p.S4530*	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4530	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGAGGGTGCTGAGGGGCTGGT	0.512										HNSCC(13;0.011)																												uc001hku.1		NA																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13588-13590)TCA>TAA		usherin isoform B							94.0	93.0	93.0					1																	215847664		2203	4300	6503	SO:0001587	stop_gained	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847664G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13589C>A	1.37:g.215847664G>T	ENSP00000305941:p.Ser4530*	HNSCC(13;0.011)					p.S4530*	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13976	-			4530			Fibronectin type-III 31.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Nonsense_Mutation	SNP	ENST00000307340.3	37	c.13589C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	56	25.985190	0.99967	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	.	.	.	4.29	4.29	0.51040	.	0.000000	0.35495	U	0.003168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1095	0.86672	0.0:0.0:1.0:0.0	.	.	.	.	X	4530	.	ENSP00000305941:S4530X	S	-	2	0	USH2A	213914287	1.000000	0.71417	0.969000	0.41365	0.861000	0.49209	7.559000	0.82265	2.091000	0.63221	0.467000	0.42956	TCA		0.512	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		43	81	1	0	7.05e-23	1.46e-22	43	81				
WDR26	80232	broad.mit.edu	37	1	224585902	224585902	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:224585902G>C	ENST00000414423.2	-	12	1864	c.1671C>G	c.(1669-1671)gaC>gaG	p.D557E	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.D410E|MIR4742_ENST00000581069.1_RNA	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	557						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CTAAAACTCTGTCTTGCAAGT	0.358																																						uc001hop.3		NA																	0					0						c.(1228-1230)GAC>GAG		WD repeat domain 26 isoform a							99.0	97.0	98.0					1																	224585902		2203	4300	6503	SO:0001583	missense	80232					cytoplasm|nucleus		g.chr1:224585902G>C	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1671C>G	1.37:g.224585902G>C	ENSP00000408108:p.Asp557Glu					WDR26_uc001hoq.3_Missense_Mutation_p.D394E|WDR26_uc010pvh.1_Missense_Mutation_p.D117E	p.D410E	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	12	1596	-			557			WD 4.		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	c.1230C>G	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.988477|3.988477	0.74589|0.74589	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.81415|.	-1.49;-1.49|.	5.11|5.11	4.2|4.2	0.49525|0.49525	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74068|0.74068	0.3668|0.3668	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	P|.	0.44659|.	0.84|.	B|.	0.41988|.	0.372|.	T|T	0.75465|0.75465	-0.3308|-0.3308	10|5	0.22109|.	T|.	0.4|.	.|.	13.7253|13.7253	0.62754|0.62754	0.0749:0.0:0.9251:0.0|0.0749:0.0:0.9251:0.0	.|.	541|.	Q9H7D7-2|.	.|.	E|E	557;410|191	ENSP00000408108:D557E;ENSP00000295024:D410E|.	ENSP00000295024:D410E|.	D|Q	-|-	3|1	2|0	WDR26|WDR26	222652525|222652525	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.020000|4.020000	0.57189|0.57189	1.290000|1.290000	0.44636|0.44636	0.591000|0.591000	0.81541|0.81541	GAC|CAG		0.358	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		10	18	0	0	0	0	10	18				
OBSCN	84033	broad.mit.edu	37	1	228481186	228481186	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:228481186G>T	ENST00000422127.1	+	41	11044	c.11000G>T	c.(10999-11001)gGa>gTa	p.G3667V	OBSCN_ENST00000366709.4_Missense_Mutation_p.G786V|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000570156.2_Missense_Mutation_p.G4096V|OBSCN_ENST00000359599.6_Missense_Mutation_p.G2514V|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3667V|OBSCN_ENST00000366707.4_Missense_Mutation_p.G786V	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3667	Ig-like 37.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCAGAGATGGAGACAGACAC	0.642																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(10999-11001)GGA>GTA		obscurin, cytoskeletal calmodulin and							96.0	102.0	100.0					1																	228481186		2151	4245	6396	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228481186G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11000G>T	1.37:g.228481186G>T	ENSP00000409493:p.Gly3667Val					OBSCN_uc001hsn.2_Missense_Mutation_p.G3667V|OBSCN_uc001hsq.1_Missense_Mutation_p.G923V	p.G3667V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			41	11044	+		Prostate(94;0.0405)	3667			Ig-like 37.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.11000G>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	14.39	2.522624	0.44866	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38	3.92	3.0	0.34707	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.206931	0.40818	N	0.001018	T	0.27663	0.0680	M	0.91249	3.19	0.45261	D	0.998265	D;D	0.71674	0.98;0.998	P;D	0.71414	0.865;0.973	T	0.13818	-1.0495	10	0.33940	T	0.23	.	11.7762	0.51987	0.0873:0.0:0.9127:0.0	.	3667;3667	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	V	3667;3667;786;786;2514	ENSP00000284548:G3667V;ENSP00000409493:G3667V;ENSP00000355668:G786V;ENSP00000355670:G786V;ENSP00000352613:G2514V	ENSP00000284548:G3667V	G	+	2	0	OBSCN	226547809	0.502000	0.26107	0.057000	0.19452	0.015000	0.08874	2.127000	0.42035	1.003000	0.39130	0.467000	0.42956	GGA		0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		25	50	1	0	4.88e-14	9.26e-14	25	50				
TAF5L	27097	broad.mit.edu	37	1	229730582	229730582	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:229730582C>A	ENST00000366676.1	-	4	1231	c.1232G>T	c.(1231-1233)tGg>tTg	p.W411L	TAF5L_ENST00000258281.2_Missense_Mutation_p.W411L			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	411					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				ATCAAATGACCACAGCCTGGC	0.547																																						uc001htq.2		NA																	0				ovary(1)	1						c.(1231-1233)TGG>TTG		PCAF associated factor 65 beta isoform a							98.0	96.0	97.0					1																	229730582		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730582C>A	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1232G>T	1.37:g.229730582C>A	ENSP00000355636:p.Trp411Leu						p.W411L	NM_014409	NP_055224	O75529	TAF5L_HUMAN			5	1398	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	411			WD 3.		Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.1232G>T	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.320473	0.81469	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	D;D	0.83506	-1.73;-1.73	5.79	5.79	0.91817	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	D	0.94538	0.8241	H	0.96460	3.825	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95584	0.8649	10	0.87932	D	0	-17.0408	20.0222	0.97508	0.0:1.0:0.0:0.0	.	411	O75529	TAF5L_HUMAN	L	411	ENSP00000355636:W411L;ENSP00000258281:W411L	ENSP00000258281:W411L	W	-	2	0	TAF5L	227797205	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	7.811000	0.86092	2.726000	0.93360	0.655000	0.94253	TGG		0.547	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	NM_014409		21	92	1	0	7.42e-09	1.28e-08	21	92				
URB2	9816	broad.mit.edu	37	1	229794961	229794961	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:229794961A>G	ENST00000258243.2	+	10	4628	c.4492A>G	c.(4492-4494)Aga>Gga	p.R1498G		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1498						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCGGGAATGAGAGACATCTT	0.507																																						uc001hts.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(4492-4494)AGA>GGA		URB2 ribosome biogenesis 2 homolog							133.0	141.0	138.0					1																	229794961		2203	4300	6503	SO:0001583	missense	9816					nucleolus		g.chr1:229794961A>G	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.4492A>G	1.37:g.229794961A>G	ENSP00000258243:p.Arg1498Gly					URB2_uc009xfd.1_Missense_Mutation_p.R1498G	p.R1498G	NM_014777	NP_055592	Q14146	URB2_HUMAN			10	4628	+			1498					Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	c.4492A>G	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296144	0.40594	.	.	ENSG00000135763	ENST00000258243	T	0.63096	-0.02	5.57	-4.46	0.03536	Nucleolar 27S pre-rRNA processing, Urb2/Npa2, C-terminal (1);	0.092493	0.64402	D	0.000001	T	0.74596	0.3737	M	0.72894	2.215	0.24876	N	0.992256	D	0.76494	0.999	D	0.72982	0.979	T	0.73300	-0.4026	9	.	.	.	-9.38	19.9449	0.97179	0.2635:0.7364:0.0:0.0	.	1498	Q14146	URB2_HUMAN	G	1498	ENSP00000258243:R1498G	.	R	+	1	2	URB2	227861584	0.208000	0.23494	0.000000	0.03702	0.002000	0.02628	0.943000	0.29030	-0.642000	0.05480	0.528000	0.53228	AGA		0.507	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		43	140	0	0	0	0	43	140				
ACTN2	88	broad.mit.edu	37	1	236912520	236912520	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:236912520G>C	ENST00000366578.4	+	14	1778	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	ACTN2_ENST00000542672.1_Missense_Mutation_p.D538H|ACTN2_ENST00000546208.1_Missense_Mutation_p.D32H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	538					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGCTATGGAGGATCTGCAAGA	0.443																																						uc001hyf.2		NA																	0				ovary(4)|skin(1)	5						c.(1612-1614)GAT>CAT		actinin, alpha 2							118.0	107.0	111.0					1																	236912520		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236912520G>C	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1612G>C	1.37:g.236912520G>C	ENSP00000355537:p.Asp538His					ACTN2_uc001hyg.2_Missense_Mutation_p.D330H|ACTN2_uc009xgi.1_Missense_Mutation_p.D538H|ACTN2_uc010pxu.1_Missense_Mutation_p.D227H|ACTN2_uc001hyh.2_Missense_Mutation_p.D226H	p.D538H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		14	1816	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	538			Spectrin 3.		B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.1612G>C	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637471	0.87760	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.50813	0.73;0.73;0.73	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	M	0.91196	3.185	0.80722	D	1	D;P;D;D	0.89917	0.998;0.659;1.0;0.999	D;P;D;D	0.97110	0.991;0.678;1.0;0.998	T	0.80772	-0.1233	10	0.54805	T	0.06	.	19.5083	0.95130	0.0:0.0:1.0:0.0	.	323;538;308;538	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	H	538;538;32;307	ENSP00000443495:D538H;ENSP00000355537:D538H;ENSP00000438384:D32H	ENSP00000355537:D538H	D	+	1	0	ACTN2	234979143	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	9.835000	0.99442	2.600000	0.87896	0.655000	0.94253	GAT		0.443	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		17	65	0	0	0	0	17	65				
RYR2	6262	broad.mit.edu	37	1	237608772	237608772	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:237608772C>A	ENST00000366574.2	+	14	1559	c.1242C>A	c.(1240-1242)cgC>cgA	p.R414R	RYR2_ENST00000542537.1_Silent_p.R398R|RYR2_ENST00000360064.6_Silent_p.R412R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	414			R -> L (in CPVT1). {ECO:0000269|PubMed:15466642}.		BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGAATCACGCACAGCCCGAG	0.393																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1240-1242)CGC>CGA		cardiac muscle ryanodine receptor							152.0	147.0	149.0					1																	237608772		1924	4139	6063	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237608772C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1242C>A	1.37:g.237608772C>A							p.R414R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		14	1362	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	414		R -> L (in CPVT1).	Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.1242C>A	CCDS55691.1																																																																																				0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		25	109	1	0	2.22e-12	4.09e-12	25	109				
RYR2	6262	broad.mit.edu	37	1	237947191	237947191	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:237947191A>C	ENST00000366574.2	+	90	12496	c.12179A>C	c.(12178-12180)cAg>cCg	p.Q4060P	RYR2_ENST00000542537.1_Missense_Mutation_p.Q4044P|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4066P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4060					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTACACGCAGTCAGAAACG	0.483																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12178-12180)CAG>CCG		cardiac muscle ryanodine receptor							39.0	39.0	39.0					1																	237947191		1988	4160	6148	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947191A>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12179A>C	1.37:g.237947191A>C	ENSP00000355533:p.Gln4060Pro					RYR2_uc010pya.1_Missense_Mutation_p.Q475P	p.Q4060P	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12299	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4060					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12179A>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	5.953	0.359759	0.11239	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.81996	-1.56;-1.56;-1.56	5.85	3.46	0.39613	EF-hand-like domain (1);	0.000000	0.64402	D	0.000009	T	0.65523	0.2699	N	0.04959	-0.14	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.006;0.0	T	0.53408	-0.8443	10	0.23302	T	0.38	.	12.7128	0.57100	0.6005:0.3995:0.0:0.0	.	1034;4060	B4DGV4;Q92736	.;RYR2_HUMAN	P	4060;4066;4044;1034	ENSP00000355533:Q4060P;ENSP00000353174:Q4066P;ENSP00000443798:Q4044P	ENSP00000353174:Q4066P	Q	+	2	0	RYR2	236013814	1.000000	0.71417	0.086000	0.20670	0.697000	0.40408	2.811000	0.47986	0.430000	0.26230	0.533000	0.62120	CAG		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		12	14	0	0	0	0	12	14				
HNRNPU	3192	broad.mit.edu	37	1	245018845	245018845	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:245018845C>G	ENST00000283179.9	-	12	2396	c.2233G>C	c.(2233-2235)Gga>Cga	p.G745R	HNRNPU_ENST00000444376.2_Missense_Mutation_p.G726R|HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	745	Gly-rich.|Poly-Gly.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CCACCACTTCCTCCACCGCCA	0.507																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1		NA																	0					0						c.(2233-2235)GGA>CGA		heterogeneous nuclear ribonucleoprotein U							89.0	89.0	89.0					1																	245018845		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245018845C>G	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2233G>C	1.37:g.245018845C>G	ENSP00000283179:p.Gly745Arg					HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.G469R|HNRNPU_uc001iba.1_Missense_Mutation_p.G726R	p.G745R	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		12	2451	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		745			Gly-rich.|Poly-Gly.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.2233G>C	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.034372	0.54896	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.47177	0.85;0.85	5.14	5.14	0.70334	.	0.344896	0.31051	N	0.008351	T	0.63189	0.2490	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.996	T	0.60546	-0.7242	9	.	.	.	-12.0692	18.2141	0.89880	0.0:1.0:0.0:0.0	.	726;745;469	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	R	726;745;670	ENSP00000393151:G726R;ENSP00000283179:G745R	.	G	-	1	0	HNRNPU	243085468	0.984000	0.35163	0.963000	0.40424	0.396000	0.30629	2.640000	0.46579	2.386000	0.81285	0.591000	0.81541	GGA		0.507	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		30	110	0	0	0	0	30	110				
AHCTF1	25909	broad.mit.edu	37	1	247013403	247013403	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247013403C>A	ENST00000391829.2	-	33	6028	c.5905G>T	c.(5905-5907)Gcc>Tcc	p.A1969S	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.A1978S|AHCTF1_ENST00000366508.1_Missense_Mutation_p.A2004S			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1969	Disordered. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTAGGTATGGCAGACATATCA	0.428																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NA																	0				ovary(5)|skin(2)	7						c.(5905-5907)GCC>TCC		transcription factor ELYS							111.0	107.0	108.0					1																	247013403		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247013403C>A		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.5905G>T	1.37:g.247013403C>A	ENSP00000375705:p.Ala1969Ser					AHCTF1_uc001ibv.1_Missense_Mutation_p.A1978S|AHCTF1_uc009xgs.1_Missense_Mutation_p.A830S|AHCTF1_uc001ibw.1_RNA	p.A1969S	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		32	5912	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1969			Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.5905G>T		.	.	.	.	.	.	.	.	.	.	C	6.534	0.466783	0.12402	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.36157	1.27;1.28;1.28	5.59	2.65	0.31530	.	0.794415	0.11646	N	0.543297	T	0.28200	0.0696	L	0.42245	1.32	0.09310	N	1	P;P;B	0.42296	0.775;0.465;0.335	B;B;B	0.42282	0.382;0.085;0.039	T	0.10109	-1.0644	10	0.12103	T	0.63	0.1323	6.3876	0.21569	0.0:0.6444:0.1318:0.2239	.	830;2004;1969	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	S	2004;1978;1969	ENSP00000355464:A2004S;ENSP00000355465:A1978S;ENSP00000375705:A1969S	ENSP00000355465:A1978S	A	-	1	0	AHCTF1	245080026	0.995000	0.38212	0.184000	0.23157	0.003000	0.03518	2.231000	0.43009	0.289000	0.22422	-0.150000	0.13652	GCC		0.428	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		32	126	1	0	8.17e-17	1.61e-16	32	126				
OR2C3	81472	broad.mit.edu	37	1	247695520	247695520	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247695520A>T	ENST00000366487.3	-	2	655	c.294T>A	c.(292-294)tgT>tgA	p.C98*	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	98						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)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ACTGGACCACACACCCTCCAT	0.577																																						uc009xgy.2		NA																	0				ovary(1)|skin(1)	2						c.(292-294)TGT>TGA		olfactory receptor, family 2, subfamily C,							91.0	91.0	91.0					1																	247695520		2203	4300	6503	SO:0001587	stop_gained	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695520A>T	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.294T>A	1.37:g.247695520A>T	ENSP00000355443:p.Cys98*					C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.C98*	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	656	-	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;0.0242)	98			Extracellular (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Nonsense_Mutation	SNP	ENST00000366487.3	37	c.294T>A	CCDS1634.2	.	.	.	.	.	.	.	.	.	.	A	38	7.026796	0.98013	.	.	ENSG00000196242	ENST00000366487	.	.	.	3.89	-1.1	0.09872	.	0.000000	0.41097	U	0.000943	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.9408	0.29957	0.6352:0.0:0.3648:0.0	.	.	.	.	X	98	.	ENSP00000355443:C98X	C	-	3	2	OR2C3	245762143	0.002000	0.14202	0.649000	0.29536	0.968000	0.65278	-0.133000	0.10451	-0.332000	0.08489	0.528000	0.53228	TGT		0.577	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074		18	51	0	0	0	0	18	51				
OR2G3	81469	broad.mit.edu	37	1	247769112	247769112	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247769112T>C	ENST00000320002.2	+	1	257	c.225T>C	c.(223-225)acT>acC	p.T75T	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	75						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(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	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)			GCTTCACTACTAGCCTTGCTC	0.448																																						uc010pyz.1		NA																	0				central_nervous_system(1)	1						c.(223-225)ACT>ACC		olfactory receptor, family 2, subfamily G,							284.0	265.0	271.0					1																	247769112		2203	4300	6503	SO:0001819	synonymous_variant	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769112T>C	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.225T>C	1.37:g.247769112T>C							p.T75T	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	225	+	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)		75			Helical; Name=2; (Potential).		B2RN64|Q5JQT1|Q6IF45	Silent	SNP	ENST00000320002.2	37	c.225T>C	CCDS31093.1																																																																																				0.448	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			178	207	0	0	0	0	178	207				
OR13G1	441933	broad.mit.edu	37	1	247835616	247835616	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247835616G>T	ENST00000359688.2	-	1	749	c.728C>A	c.(727-729)aCa>aAa	p.T243K	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	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)			GGTCACCACTGTGAGATGAGA	0.448																																						uc001idi.1		NA																	0				skin(1)	1						c.(727-729)ACA>AAA		olfactory receptor, family 13, subfamily G,							164.0	140.0	148.0					1																	247835616		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835616G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.728C>A	1.37:g.247835616G>T	ENSP00000352717:p.Thr243Lys						p.T243K	NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	728	-	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)		243			Helical; Name=6; (Potential).		B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.728C>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	9.008	0.981820	0.18812	.	.	ENSG00000197437	ENST00000359688	T	0.39229	1.09	4.2	-2.68	0.06041	GPCR, rhodopsin-like superfamily (1);	1.625600	0.03586	N	0.230978	T	0.56046	0.1959	M	0.90198	3.095	0.09310	N	1	B	0.23540	0.087	B	0.33620	0.167	T	0.59289	-0.7482	10	0.87932	D	0	-3.9771	9.9921	0.41877	0.5524:0.0:0.4476:0.0	.	243	Q8NGZ3	O13G1_HUMAN	K	243	ENSP00000352717:T243K	ENSP00000352717:T243K	T	-	2	0	OR13G1	245902239	0.000000	0.05858	0.002000	0.10522	0.074000	0.17049	-0.368000	0.07543	-0.597000	0.05813	-1.423000	0.01107	ACA		0.448	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		44	42	1	0	1.42e-22	2.92e-22	44	42				
OR14A16	284532	broad.mit.edu	37	1	247978277	247978277	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:247978277C>T	ENST00000357627.1	-	1	754	c.755G>A	c.(754-756)gGa>gAa	p.G252E		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	252						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(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						AGCAATGAATCCAGTGGAAAG	0.433																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	0					0						c.(754-756)GGA>GAA		olfactory receptor, family 14, subfamily A,							84.0	85.0	85.0					1																	247978277		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978277C>T	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.755G>A	1.37:g.247978277C>T	ENSP00000350248:p.Gly252Glu						p.G252E	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	755	-			252			Helical; Name=6; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.755G>A	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575241	0.45902	.	.	ENSG00000196772	ENST00000357627	T	0.00169	8.63	3.84	-5.0	0.03001	GPCR, rhodopsin-like superfamily (1);	0.339034	0.20205	U	0.097003	T	0.00552	0.0018	H	0.94183	3.505	0.09310	N	1	D	0.59357	0.985	D	0.70716	0.97	T	0.19910	-1.0291	10	0.59425	D	0.04	.	8.512	0.33224	0.1703:0.1356:0.6134:0.0807	.	252	Q8NHC5	O14AG_HUMAN	E	252	ENSP00000350248:G252E	ENSP00000350248:G252E	G	-	2	0	OR14A16	246044900	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-3.282000	0.00528	-0.381000	0.07882	-0.255000	0.11280	GGA		0.433	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		18	22	0	0	0	0	18	22				
OR2T8	343172	broad.mit.edu	37	1	248084536	248084536	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248084536T>C	ENST00000319968.4	+	1	217	c.217T>C	c.(217-219)Tcc>Ccc	p.S73P		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	73						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(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATGCTGGTTTCCACCACTGT	0.572																																						uc010pzc.1		NA																	0					0						c.(217-219)TCC>CCC		olfactory receptor, family 2, subfamily T,							70.0	65.0	67.0					1																	248084536		2200	4296	6496	SO:0001583	missense	343172				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248084536T>C		CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.217T>C	1.37:g.248084536T>C	ENSP00000326225:p.Ser73Pro						p.S73P	NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	217	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	73			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000319968.4	37	c.217T>C	CCDS31100.1	.	.	.	.	.	.	.	.	.	.	t	8.550	0.875205	0.17395	.	.	ENSG00000177462	ENST00000319968	T	0.00408	7.54	3.81	0.0504	0.14293	GPCR, rhodopsin-like superfamily (1);	0.505033	0.14867	U	0.293770	T	0.00724	0.0024	M	0.92555	3.32	0.09310	N	1	P	0.52692	0.955	P	0.49597	0.616	T	0.42616	-0.9441	10	0.66056	D	0.02	.	3.7639	0.08615	0.1568:0.2902:0.0:0.553	.	73	A6NH00	OR2T8_HUMAN	P	73	ENSP00000326225:S73P	ENSP00000326225:S73P	S	+	1	0	OR2T8	246151159	0.000000	0.05858	0.009000	0.14445	0.126000	0.20510	0.052000	0.14163	0.101000	0.17610	-0.372000	0.07161	TCC		0.572	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096862.1	NM_001005522		6	129	0	0	0	0	6	129				
OR2AK2	391191	broad.mit.edu	37	1	248129117	248129117	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248129117T>A	ENST00000366480.3	+	1	583	c.484T>A	c.(484-486)Tgt>Agt	p.C162S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	162						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(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATGGTTGCATGTGCATGGGC	0.413																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	0				ovary(1)|breast(1)	2						c.(484-486)TGT>AGT		olfactory receptor, family 2, subfamily AK,							232.0	205.0	215.0					1																	248129117		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129117T>A	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.484T>A	1.37:g.248129117T>A	ENSP00000355436:p.Cys162Ser					OR2L13_uc001ids.2_Intron	p.C162S	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	484	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		162			Helical; Name=4; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.484T>A	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	2.494	-0.316689	0.05386	.	.	ENSG00000187080	ENST00000366480	T	0.36340	1.26	3.03	-6.07	0.02158	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.10208	0.0250	N	0.02296	-0.605	0.09310	N	1	B	0.16166	0.016	B	0.22152	0.038	T	0.20974	-1.0259	9	0.18710	T	0.47	.	1.164	0.01811	0.1791:0.1979:0.1548:0.4682	.	162	Q8NG84	O2AK2_HUMAN	S	162	ENSP00000355436:C162S	ENSP00000355436:C162S	C	+	1	0	OR2AK2	246195740	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.755000	0.04782	-2.056000	0.00898	-0.624000	0.04008	TGT		0.413	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		111	148	0	0	0	0	111	148				
OR2M5	127059	broad.mit.edu	37	1	248309365	248309365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248309365G>T	ENST00000366476.1	+	1	916	c.916G>T	c.(916-918)Gga>Tga	p.G306*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GAAAGTGTTAGGAAAGGGCAA	0.443																																						uc010pze.1		NA																	0				ovary(2)|kidney(1)	3						c.(916-918)GGA>TGA		olfactory receptor, family 2, subfamily M,							56.0	52.0	53.0					1																	248309365		2203	4300	6503	SO:0001587	stop_gained	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309365G>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.916G>T	1.37:g.248309365G>T	ENSP00000355432:p.Gly306*						p.G306*	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	916	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		306			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000366476.1	37	c.916G>T	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	9.120	1.008691	0.19199	.	.	ENSG00000162727	ENST00000366476	.	.	.	2.85	-4.8	0.03190	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.141	0.10193	0.482:0.0:0.3559:0.1621	.	.	.	.	X	306	.	ENSP00000355432:G306X	G	+	1	0	OR2M5	246375988	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.585000	0.05794	-1.187000	0.02709	-0.532000	0.04303	GGA		0.443	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		38	52	1	0	1.57e-24	3.27e-24	38	52				
OR2M3	127062	broad.mit.edu	37	1	248366631	248366631	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248366631G>T	ENST00000456743.1	+	1	300	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTACCTGTCTGGCAGCAAGTC	0.502																																						uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(262-264)GGC>TGC		olfactory receptor, family 2, subfamily M,							267.0	264.0	265.0					1																	248366631		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366631G>T		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.262G>T	1.37:g.248366631G>T	ENSP00000389625:p.Gly88Cys						p.G88C	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	262	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		88			Extracellular (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.262G>T	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606848	0.28623	.	.	ENSG00000228198	ENST00000456743	T	0.02682	4.2	2.44	1.5	0.22942	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32640	U	0.005825	T	0.17534	0.0421	H	0.95884	3.735	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.08411	-1.0723	10	0.87932	D	0	.	4.3549	0.11174	0.2466:0.1915:0.5619:0.0	.	88	Q8NG83	OR2M3_HUMAN	C	88	ENSP00000389625:G88C	ENSP00000389625:G88C	G	+	1	0	OR2M3	246433254	0.000000	0.05858	0.009000	0.14445	0.051000	0.14879	0.413000	0.21148	0.351000	0.24027	0.405000	0.27470	GGC		0.502	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		135	417	1	0	1.41e-78	3.03e-78	135	417				
OR2M3	127062	broad.mit.edu	37	1	248366998	248366998	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248366998C>A	ENST00000456743.1	+	1	667	c.629C>A	c.(628-630)cCt>cAt	p.P210H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418																																						uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(628-630)CCT>CAT		olfactory receptor, family 2, subfamily M,							284.0	278.0	280.0					1																	248366998		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366998C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.629C>A	1.37:g.248366998C>A	ENSP00000389625:p.Pro210His						p.P210H	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	629	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		210			Helical; Name=5; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.629C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	c	12.66	2.004110	0.35320	.	.	ENSG00000228198	ENST00000456743	T	0.57273	0.41	2.43	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31949	U	0.006810	T	0.75693	0.3884	H	0.94771	3.58	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65195	-0.6227	10	0.87932	D	0	.	7.93	0.29897	0.0:0.6411:0.3589:0.0	.	210	Q8NG83	OR2M3_HUMAN	H	210	ENSP00000389625:P210H	ENSP00000389625:P210H	P	+	2	0	OR2M3	246433621	0.000000	0.05858	0.008000	0.14137	0.031000	0.12232	0.863000	0.27913	1.356000	0.45884	0.398000	0.26397	CCT		0.418	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		168	236	1	0	5.6e-70	1.2e-69	168	236				
OR2T12	127064	broad.mit.edu	37	1	248458876	248458876	+	Missense_Mutation	SNP	T	T	A	rs11339452	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248458876T>A	ENST00000317996.1	-	1	4	c.5A>T	c.(4-6)gAg>gTg	p.E2V		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E2fs*2(1)|p.E2G(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ATTTCTCATCTCCATAATTTC	0.428																																						uc010pzj.1		NA																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		lung(1)|pancreas(1)	skin(2)|ovary(1)	3						c.(4-6)GAG>GTG		olfactory receptor, family 2, subfamily T,							66.0	61.0	62.0					1																	248458876		2200	4211	6411	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458876T>A	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.5A>T	1.37:g.248458876T>A	ENSP00000324583:p.Glu2Val						p.E2V	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	5	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		2			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.5A>T	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	T	11.22	1.574331	0.28092	.	.	ENSG00000177201	ENST00000317996	T	0.38722	1.12	1.35	1.35	0.21983	.	0.714851	0.11411	U	0.566760	T	0.40272	0.1110	L	0.41573	1.285	0.09310	N	1	D	0.56968	0.978	P	0.50754	0.649	T	0.21415	-1.0246	10	0.66056	D	0.02	.	6.5696	0.22531	0.0:0.0:0.0:1.0	.	2	Q8NG77	O2T12_HUMAN	V	2	ENSP00000324583:E2V	ENSP00000324583:E2V	E	-	2	0	OR2T12	246525499	0.000000	0.05858	0.050000	0.19076	0.153000	0.21895	-0.229000	0.09098	0.418000	0.25898	0.155000	0.16302	GAG		0.428	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		45	60	0	0	0	0	45	60				
OR2T34	127068	broad.mit.edu	37	1	248737333	248737333	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248737333G>A	ENST00000328782.2	-	1	747	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	242						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(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGTGGCCAAGGCCTTCCTGC	0.567																																						uc001iep.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(724-726)GCC>GCT		olfactory receptor, family 2, subfamily T,							107.0	120.0	115.0					1																	248737333		2176	4300	6476	SO:0001819	synonymous_variant	127068				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248737333G>A	BK004477	CCDS31120.1	1q44	2012-08-09			ENSG00000183310	ENSG00000183310		"""GPCR / Class A : Olfactory receptors"""	31256	protein-coding gene	gene with protein product							Standard	NM_001001821		Approved		uc001iep.1	Q8NGX1	OTTHUMG00000040387	ENST00000328782.2:c.726C>T	1.37:g.248737333G>A							p.A242A	NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	726	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		242			Helical; Name=6; (Potential).		B2RNJ8|Q6IEY5|Q96R31	Silent	SNP	ENST00000328782.2	37	c.726C>T	CCDS31120.1																																																																																				0.567	OR2T34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097138.1	NM_001001821		112	127	0	0	0	0	112	127				
OR2T11	127077	broad.mit.edu	37	1	248790227	248790227	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:248790227G>C	ENST00000330803.2	-	1	264	c.203C>G	c.(202-204)aCc>aGc	p.T68S		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGAAAAGGGTGTCCATGAT	0.483																																						uc001ier.1		NA																	0				lung(1)	1						c.(202-204)ACC>AGC		olfactory receptor, family 2, subfamily T,							69.0	72.0	71.0					1																	248790227		2052	4236	6288	SO:0001583	missense	127077				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248790227G>C	BK004476	CCDS31122.1	1q44	2013-10-10	2013-10-10		ENSG00000183130	ENSG00000183130		"""GPCR / Class A : Olfactory receptors"""	19574	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 11"""				Standard	NM_001001964		Approved	OR2T11Q	uc001ier.1	Q8NH01	OTTHUMG00000040384	ENST00000330803.2:c.203C>G	1.37:g.248790227G>C	ENSP00000328934:p.Thr68Ser						p.T68S	NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	203	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		68			Helical; Name=2; (Potential).		Q6IEY6	Missense_Mutation	SNP	ENST00000330803.2	37	c.203C>G	CCDS31122.1	.	.	.	.	.	.	.	.	.	.	.	9.084	1.000046	0.19121	.	.	ENSG00000183130	ENST00000330803	T	0.03004	4.08	4.62	2.7	0.31948	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000380	T	0.03477	0.0100	L	0.28274	0.84	0.09310	N	1	P	0.45428	0.858	B	0.43867	0.434	T	0.37979	-0.9682	10	0.87932	D	0	.	6.6315	0.22859	0.3543:0.0:0.6457:0.0	.	68	Q8NH01	O2T11_HUMAN	S	68	ENSP00000328934:T68S	ENSP00000328934:T68S	T	-	2	0	OR2T11	246856850	0.000000	0.05858	0.939000	0.37840	0.158000	0.22134	1.212000	0.32394	1.138000	0.42230	0.655000	0.94253	ACC		0.483	OR2T11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097134.1	NM_001001964		41	57	0	0	0	0	41	57				
CUBN	8029	broad.mit.edu	37	10	16946023	16946023	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:16946023G>T	ENST00000377833.4	-	51	8069	c.8004C>A	c.(8002-8004)caC>caA	p.H2668Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2668	CUB 19. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGTGACAAAGTGAATCCATA	0.378																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(8002-8004)CAC>CAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						78.0	71.0	74.0					10																	16946023		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16946023G>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.8004C>A	10.37:g.16946023G>T	ENSP00000367064:p.His2668Gln					CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.H24Q	p.H2668Q	NM_001081	NP_001072	O60494	CUBN_HUMAN			51	8056	-			2668			CUB 19.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.8004C>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246659	0.39697	.	.	ENSG00000107611	ENST00000377833	T	0.27890	1.64	5.39	0.278	0.15673	CUB (5);	0.154568	0.30210	N	0.010158	T	0.22859	0.0552	L	0.37800	1.135	0.80722	D	1	P	0.48407	0.91	P	0.51055	0.657	T	0.33752	-0.9856	10	0.13108	T	0.6	.	1.6194	0.02710	0.2535:0.1041:0.429:0.2134	.	2668	O60494	CUBN_HUMAN	Q	2668	ENSP00000367064:H2668Q	ENSP00000367064:H2668Q	H	-	3	2	CUBN	16986029	0.972000	0.33761	0.992000	0.48379	0.950000	0.60333	0.044000	0.13992	-0.133000	0.11537	0.591000	0.81541	CAC		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		11	25	1	0	2.81e-09	4.9e-09	11	25				
CUBN	8029	broad.mit.edu	37	10	17126346	17126346	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:17126346T>A	ENST00000377833.4	-	17	2290	c.2225A>T	c.(2224-2226)cAg>cTg	p.Q742L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	742	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGTTCTCCCTGGGGCTGCTT	0.498																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(2224-2226)CAG>CTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						155.0	136.0	143.0					10																	17126346		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17126346T>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2225A>T	10.37:g.17126346T>A	ENSP00000367064:p.Gln742Leu						p.Q742L	NM_001081	NP_001072	O60494	CUBN_HUMAN			17	2277	-			742			CUB 3.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2225A>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	6.544	0.468681	0.12461	.	.	ENSG00000107611	ENST00000377833	T	0.18338	2.22	5.69	-10.5	0.00291	CUB (5);	1.066810	0.07478	N	0.903394	T	0.06325	0.0163	N	0.03194	-0.395	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44726	-0.9309	10	0.30078	T	0.28	.	13.8255	0.63348	0.1304:0.0:0.6229:0.2467	.	742	O60494	CUBN_HUMAN	L	742	ENSP00000367064:Q742L	ENSP00000367064:Q742L	Q	-	2	0	CUBN	17166352	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.370000	0.07523	-1.905000	0.01090	-0.316000	0.08728	CAG		0.498	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		21	41	0	0	0	0	21	41				
CUBN	8029	broad.mit.edu	37	10	17168764	17168764	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:17168764T>A	ENST00000377833.4	-	4	448	c.383A>T	c.(382-384)cAg>cTg	p.Q128L	CUBN_ENST00000377823.1_Missense_Mutation_p.Q128L	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	128					cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTACCTGCTGCAAGCCTTG	0.393																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(382-384)CAG>CTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						148.0	134.0	139.0					10																	17168764		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17168764T>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.383A>T	10.37:g.17168764T>A	ENSP00000367064:p.Gln128Leu						p.Q128L	NM_001081	NP_001072	O60494	CUBN_HUMAN			4	435	-			128					B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.383A>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.929313	0.34096	.	.	ENSG00000107611	ENST00000377833;ENST00000433666;ENST00000377823	T;D;D	0.89617	-1.06;-2.34;-2.54	4.62	3.48	0.39840	.	0.893166	0.09115	N	0.846530	T	0.81767	0.4892	L	0.29908	0.895	0.32415	N	0.550187	B	0.27823	0.19	B	0.18871	0.023	T	0.76602	-0.2899	10	0.37606	T	0.19	.	9.2791	0.37718	0.0:0.0875:0.0:0.9125	.	128	O60494	CUBN_HUMAN	L	128;15;128	ENSP00000367064:Q128L;ENSP00000415970:Q15L;ENSP00000367054:Q128L	ENSP00000367054:Q128L	Q	-	2	0	CUBN	17208770	1.000000	0.71417	0.880000	0.34516	0.025000	0.11179	3.201000	0.51059	0.812000	0.34326	0.455000	0.32223	CAG		0.393	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		20	30	0	0	0	0	20	30				
CACNB2	783	broad.mit.edu	37	10	18690910	18690910	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:18690910G>T	ENST00000324631.7	+	3	331	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	CACNB2_ENST00000377331.2_Missense_Mutation_p.D63Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.D63Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.D37Y|CACNB2_ENST00000352115.6_Missense_Mutation_p.D91Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.D43Y|CACNB2_ENST00000377328.1_Missense_Mutation_p.D91Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.D36Y|CACNB2_ENST00000396576.2_Missense_Mutation_p.D36Y	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	91					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCTGGAGGAGGACCGGGAGGC	0.507																																						uc001ipr.2		NA																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(271-273)GAC>TAC		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						73.0	64.0	67.0					10																	18690910		2203	4300	6503	SO:0001583	missense	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18690910G>T	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.271G>T	10.37:g.18690910G>T	ENSP00000320025:p.Asp91Tyr					CACNB2_uc009xjz.1_Missense_Mutation_p.D91Y|CACNB2_uc001ips.2_Missense_Mutation_p.D91Y|CACNB2_uc001ipt.2_Missense_Mutation_p.D91Y|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.D63Y|CACNB2_uc001ipv.2_Missense_Mutation_p.D63Y|CACNB2_uc009xka.1_Missense_Mutation_p.D63Y|CACNB2_uc001ipw.2_Missense_Mutation_p.D36Y|CACNB2_uc001ipx.2_Missense_Mutation_p.D36Y|CACNB2_uc009xkb.1_Missense_Mutation_p.D37Y|CACNB2_uc010qcm.1_Missense_Mutation_p.D37Y|CACNB2_uc001ipz.2_Missense_Mutation_p.D37Y|CACNB2_uc001ipy.2_Missense_Mutation_p.D37Y|CACNB2_uc010qcn.1_Missense_Mutation_p.D43Y|CACNB2_uc010qco.1_Missense_Mutation_p.D43Y|CACNB2_uc001iqa.2_Missense_Mutation_p.D43Y	p.D91Y	NM_201596	NP_963890	Q08289	CACB2_HUMAN			3	331	+			91					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	c.271G>T	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267745	0.80469	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;D;D;D;D;D	0.85088	-1.9;1.93;-1.94;-1.88;-1.84;-1.91;-1.87;-1.89;-1.91	5.87	5.87	0.94306	.	0.041772	0.85682	D	0.000000	D	0.92951	0.7757	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.999;0.999;0.997;0.999;0.993;0.999;0.999;0.999;0.989;0.999;1.0;0.999;0.999;1.0;1.0	D	0.92698	0.6172	10	0.87932	D	0	-27.1909	20.5827	0.99408	0.0:0.0:1.0:0.0	.	43;43;37;37;63;91;43;37;37;47;36;63;63;91;91;91	B7Z1U5;B7Z2U3;Q5QJ99;Q6TME0;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	Y	91;91;91;63;63;36;36;37;43	ENSP00000320025:D91Y;ENSP00000344474:D91Y;ENSP00000366545:D91Y;ENSP00000282343:D63Y;ENSP00000366548:D63Y;ENSP00000379821:D36Y;ENSP00000366536:D36Y;ENSP00000366546:D37Y;ENSP00000366532:D43Y	ENSP00000282343:D63Y	D	+	1	0	CACNB2	18730916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.941000	0.99782	0.655000	0.94253	GAC		0.507	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		11	56	1	0	2.81e-09	4.9e-09	11	56				
NEBL	10529	broad.mit.edu	37	10	21108419	21108419	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:21108419C>T	ENST00000377122.4	-	20	2385	c.1989G>A	c.(1987-1989)aaG>aaA	p.K663K	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	663					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCGGAGTGGCCTTGTAGTTTT	0.438																																						uc001iqi.2		NA																	0				ovary(2)	2						c.(1987-1989)AAG>AAA		nebulette sarcomeric isoform							154.0	136.0	142.0					10																	21108419		2203	4300	6503	SO:0001819	synonymous_variant	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21108419C>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1989G>A	10.37:g.21108419C>T						NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.K663K	NM_006393	NP_006384	O76041	NEBL_HUMAN			20	2386	-			663			Nebulin 18.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	ENST00000377122.4	37	c.1989G>A	CCDS7134.1																																																																																				0.438	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		32	104	0	0	0	0	32	104				
ENKUR	219670	broad.mit.edu	37	10	25279433	25279433	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:25279433T>C	ENST00000331161.4	-	4	772	c.553A>G	c.(553-555)Atg>Gtg	p.M185V	ENKUR_ENST00000376363.1_Missense_Mutation_p.M185V	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	185	Enkurin. {ECO:0000255|PROSITE- ProRule:PRU01000}.|IQ.					motile cilium (GO:0031514)				endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AGCCTTTTCATAGCTGCTTTC	0.408																																						uc001isg.1		NA																	0					0						c.(553-555)ATG>GTG		enkurin							178.0	154.0	162.0					10																	25279433		2203	4300	6503	SO:0001583	missense	219670					cilium|flagellum	calmodulin binding|SH3 domain binding	g.chr10:25279433T>C	AK095021	CCDS7146.1, CCDS73075.1	10p12.31	2014-08-13	2009-04-28	2009-04-28	ENSG00000151023	ENSG00000151023			28388	protein-coding gene	gene with protein product		611025	"""chromosome 10 open reading frame 63"""	C10orf63		17217053, 15385169	Standard	NM_145010		Approved	MGC26778, enkurin, CFAP106	uc001isg.2	Q8TC29	OTTHUMG00000017827	ENST00000331161.4:c.553A>G	10.37:g.25279433T>C	ENSP00000331044:p.Met185Val					ENKUR_uc001ish.1_Missense_Mutation_p.M123V	p.M185V	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN			4	718	-			185			IQ.		A8K8Y0|D3DRV2	Missense_Mutation	SNP	ENST00000331161.4	37	c.553A>G	CCDS7146.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.841058	0.32513	.	.	ENSG00000151023	ENST00000331161;ENST00000376363	.	.	.	5.91	5.91	0.95273	.	0.069095	0.85682	D	0.000000	T	0.54743	0.1877	M	0.62723	1.935	0.58432	D	0.999997	P;P	0.39696	0.683;0.503	B;B	0.38755	0.281;0.159	T	0.53279	-0.8461	9	0.12103	T	0.63	-45.3277	16.0521	0.80772	0.0:0.0:0.0:1.0	.	185;185	Q5VV23;Q8TC29	.;ENKUR_HUMAN	V	185	.	ENSP00000331044:M185V	M	-	1	0	ENKUR	25319439	1.000000	0.71417	0.943000	0.38184	0.351000	0.29236	6.347000	0.73004	2.269000	0.75478	0.456000	0.33151	ATG		0.408	ENKUR-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047239.2	NM_145010		22	43	0	0	0	0	22	43				
YME1L1	10730	broad.mit.edu	37	10	27403474	27403474	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:27403474T>C	ENST00000326799.3	-	19	2302	c.2154A>G	c.(2152-2154)gaA>gaG	p.E718E	YME1L1_ENST00000376016.3_Silent_p.E661E|YME1L1_ENST00000375972.3_Silent_p.E628E	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	718					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTATTTCTTGTTCGATGGCAG	0.328																																						uc001iti.2		NA																	0				ovary(1)	1						c.(2152-2154)GAA>GAG		YME1-like 1 isoform 1							105.0	101.0	102.0					10																	27403474		2203	4300	6503	SO:0001819	synonymous_variant	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27403474T>C	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.2154A>G	10.37:g.27403474T>C						YME1L1_uc001itj.2_Silent_p.E661E|YME1L1_uc010qdl.1_Silent_p.E628E|YME1L1_uc009xkv.2_RNA	p.E718E	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			19	2336	-			718					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Silent	SNP	ENST00000326799.3	37	c.2154A>G	CCDS7152.1																																																																																				0.328	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1	NM_139312		12	43	0	0	0	0	12	43				
LYZL2	119180	broad.mit.edu	37	10	30915774	30915774	+	Missense_Mutation	SNP	C	C	G	rs375255325		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:30915774C>G	ENST00000375318.2	-	2	265	c.209G>C	c.(208-210)cGt>cCt	p.R70P		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	24					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CAGTTTGCAACGAGTGTAGAT	0.522																																						uc001ivk.2		NA																	0					0						c.(208-210)CGT>CCT		lysozyme-like 2							87.0	102.0	97.0					10																	30915774		2203	4296	6499	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915774C>G	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.209G>C	10.37:g.30915774C>G	ENSP00000364467:p.Arg70Pro						p.R70P	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			2	222	-		Prostate(175;0.151)	24					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.209G>C	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091737	0.36952	.	.	ENSG00000151033	ENST00000375318	T	0.73789	-0.78	2.01	2.01	0.26516	.	0.000000	0.64402	D	0.000001	D	0.84579	0.5503	M	0.86343	2.81	0.38290	D	0.942677	D	0.89917	1.0	D	0.79784	0.993	D	0.85951	0.1464	10	0.87932	D	0	-23.591	7.6086	0.28115	0.0:1.0:0.0:0.0	.	70	Q7Z4W2-2	.	P	70	ENSP00000364467:R70P	ENSP00000364467:R70P	R	-	2	0	LYZL2	30955780	1.000000	0.71417	0.999000	0.59377	0.411000	0.31082	2.085000	0.41634	1.432000	0.47375	0.306000	0.20318	CGT		0.522	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		27	49	0	0	0	0	27	49				
ZEB1	6935	broad.mit.edu	37	10	31815599	31815599	+	Splice_Site	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:31815599G>T	ENST00000320985.10	+	9	2892		c.e9-1		ZEB1_ENST00000560721.2_Splice_Site|ZEB1_ENST00000361642.5_Splice_Site|ZEB1_ENST00000446923.2_Splice_Site|ZEB1_ENST00000542815.3_Splice_Site			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1						cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTATTTTGCAGGTAAAAGACC	0.348																																					Ovarian(40;423 959 14296 36701 49589)	uc001ivs.3		NA																	0				ovary(3)|central_nervous_system(2)	5						c.e9-1		zinc finger E-box binding homeobox 1 isoform b							44.0	45.0	45.0					10																	31815599		2203	4300	6503	SO:0001630	splice_region_variant	6935				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr10:31815599G>T	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2783-1G>T	10.37:g.31815599G>T						ZEB1_uc001ivr.3_Splice_Site_p.G710_splice|ZEB1_uc010qee.1_Splice_Site_p.G710_splice|ZEB1_uc010qef.1_Splice_Site_p.G710_splice|ZEB1_uc001ivt.3_Splice_Site_p.G710_splice|ZEB1_uc001ivu.3_Splice_Site_p.G929_splice|ZEB1_uc001ivv.3_Splice_Site_p.G908_splice|ZEB1_uc010qeh.1_Splice_Site_p.G861_splice|ZEB1_uc009xlp.2_Splice_Site_p.G912_splice	p.G928_splice	NM_030751	NP_110378	P37275	ZEB1_HUMAN			9	2846	+		Prostate(175;0.0156)						B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Splice_Site	SNP	ENST00000320985.10	37	c.2783_splice	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358700	0.82243	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4066	0.90538	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZEB1	31855605	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.808000	0.99193	2.368000	0.80403	0.585000	0.79938	.		0.348	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	Intron	6	19	1	0	0.00198382	0.0028924	6	19				
PARD3	56288	broad.mit.edu	37	10	34666965	34666965	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:34666965A>T	ENST00000374789.3	-	10	1794	c.1469T>A	c.(1468-1470)gTg>gAg	p.V490E	PARD3_ENST00000374790.3_Missense_Mutation_p.V446E|PARD3_ENST00000545260.1_Missense_Mutation_p.V446E|PARD3_ENST00000374794.3_Missense_Mutation_p.V446E|PARD3_ENST00000374788.3_Missense_Mutation_p.V490E|PARD3_ENST00000374773.1_Missense_Mutation_p.V490E|PARD3_ENST00000374776.1_Missense_Mutation_p.V490E|PARD3_ENST00000350537.4_Missense_Mutation_p.V490E|PARD3_ENST00000544292.1_Missense_Mutation_p.V220E|PARD3_ENST00000545693.1_Missense_Mutation_p.V490E|PARD3_ENST00000340077.5_Missense_Mutation_p.V490E|PARD3_ENST00000346874.4_Missense_Mutation_p.V490E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	490	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				AATGTTTTTCACATAGATTGG	0.478																																						uc010qej.1		NA																	0				ovary(1)	1						c.(1468-1470)GTG>GAG		partitioning-defective protein 3 homolog							107.0	113.0	111.0					10																	34666965		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34666965A>T	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1469T>A	10.37:g.34666965A>T	ENSP00000363921:p.Val490Glu					PARD3_uc010qek.1_Missense_Mutation_p.V490E|PARD3_uc010qel.1_Missense_Mutation_p.V490E|PARD3_uc010qem.1_Missense_Mutation_p.V490E|PARD3_uc010qen.1_Missense_Mutation_p.V490E|PARD3_uc010qeo.1_Missense_Mutation_p.V490E|PARD3_uc010qep.1_Missense_Mutation_p.V446E|PARD3_uc010qeq.1_Missense_Mutation_p.V446E|PARD3_uc001ixo.1_Missense_Mutation_p.V220E|PARD3_uc001ixp.1_Missense_Mutation_p.V355E|PARD3_uc001ixq.1_Missense_Mutation_p.V490E|PARD3_uc001ixr.1_Missense_Mutation_p.V490E|PARD3_uc001ixt.1_Missense_Mutation_p.V311E|PARD3_uc001ixu.1_Missense_Mutation_p.V446E|PARD3_uc001ixs.1_Missense_Mutation_p.V143E	p.V490E	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			10	1469	-		Breast(68;0.0707)	490			PDZ 2.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1469T>A	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009527	0.75046	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45;1.45	5.52	5.52	0.82312	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.81311	-0.0990	10	0.87932	D	0	.	15.6288	0.76885	1.0:0.0:0.0:0.0	.	446;446;490;490;490;490;490;490;446;490;490;490;490;490;220	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	E	490;446;490;490;490;446;490;446;490;490;490;220	ENSP00000443147:V490E;ENSP00000440857:V446E;ENSP00000363921:V490E;ENSP00000363920:V490E;ENSP00000340591:V490E;ENSP00000363926:V446E;ENSP00000311986:V490E;ENSP00000363922:V446E;ENSP00000363908:V490E;ENSP00000341844:V490E;ENSP00000363905:V490E;ENSP00000444429:V220E	ENSP00000341844:V490E	V	-	2	0	PARD3	34706971	1.000000	0.71417	1.000000	0.80357	0.441000	0.31987	8.962000	0.93254	2.078000	0.62432	0.460000	0.39030	GTG		0.478	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1	NM_019619		30	86	0	0	0	0	30	86				
ZNF248	57209	broad.mit.edu	37	10	38121829	38121829	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:38121829C>A	ENST00000395867.3	-	6	1004	c.454G>T	c.(454-456)Ggc>Tgc	p.G152C	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G152C|AL135791.1_ENST00000583461.1_RNA	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	152					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						ATAATTAAGCCCGAAATATTT	0.323																																						uc001izd.1		NA																	0				ovary(1)	1						c.(454-456)GGC>TGC		zinc finger protein 248							46.0	49.0	48.0					10																	38121829		2200	4295	6495	SO:0001583	missense	57209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38121829C>A	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.454G>T	10.37:g.38121829C>A	ENSP00000379208:p.Gly152Cys					ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.G152C	p.G152C	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN			6	953	-			152					Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	37	c.454G>T	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492102	0.44352	.	.	ENSG00000198105	ENST00000395867;ENST00000357328	T;T	0.04917	3.53;3.53	4.86	4.86	0.63082	.	0.289868	0.25089	N	0.033228	T	0.04770	0.0129	N	0.08118	0	0.28233	N	0.926041	D	0.63880	0.993	B	0.43916	0.436	T	0.25328	-1.0135	10	0.62326	D	0.03	.	13.682	0.62491	0.0:1.0:0.0:0.0	.	152	Q8NDW4	ZN248_HUMAN	C	152	ENSP00000379208:G152C;ENSP00000349882:G152C	ENSP00000349882:G152C	G	-	1	0	ZNF248	38161835	0.001000	0.12720	0.999000	0.59377	0.961000	0.63080	0.173000	0.16724	2.698000	0.92095	0.563000	0.77884	GGC		0.323	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045		21	39	1	0	2.46e-09	4.32e-09	21	39				
ZNF25	219749	broad.mit.edu	37	10	38242024	38242024	+	Silent	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:38242024T>A	ENST00000302609.7	-	6	614	c.402A>T	c.(400-402)atA>atT	p.I134I	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	134					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(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GCTGATGTACTATGAGGGCAG	0.398																																						uc001ize.1		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(400-402)ATA>ATT		zinc finger protein 25							147.0	147.0	147.0					10																	38242024		2203	4300	6503	SO:0001819	synonymous_variant	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38242024T>A	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.402A>T	10.37:g.38242024T>A						ZNF25_uc001izf.1_Silent_p.I98I	p.I134I	NM_145011	NP_659448	P17030	ZNF25_HUMAN			6	507	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	134			C2H2-type 1.		A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Silent	SNP	ENST00000302609.7	37	c.402A>T	CCDS7195.1																																																																																				0.398	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		43	107	0	0	0	0	43	107				
RET	5979	broad.mit.edu	37	10	43595965	43595965	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:43595965G>T	ENST00000355710.3	+	2	364	c.132G>T	c.(130-132)caG>caT	p.Q44H	RET_ENST00000340058.5_Missense_Mutation_p.Q44H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	44					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)	ATGTGGACCAGGCAGCCGGCA	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.(130-132)CAG>CAT		ret proto-oncogene isoform a	Sunitinib(DB01268)						78.0	69.0	72.0					10																	43595965		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.chr10:43595965G>T	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.132G>T	10.37:g.43595965G>T	ENSP00000347942:p.Gln44His					RET_uc001jak.1_Missense_Mutation_p.Q44H	p.Q44H	NM_020975	NP_066124	P07949	RET_HUMAN			2	322	+		Ovarian(717;0.0423)	44			Extracellular (Potential).		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.132G>T	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078193	0.55753	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;D	0.81821	-1.42;-1.54	5.51	3.32	0.38043	.	0.051824	0.85682	D	0.000000	D	0.86301	0.5900	M	0.65498	2.005	0.50632	D	0.999883	D;D	0.76494	0.997;0.999	P;D	0.68353	0.906;0.957	D	0.86941	0.2079	10	0.87932	D	0	.	10.4617	0.44583	0.2368:0.0:0.7632:0.0	.	44;44	P07949;P07949-2	RET_HUMAN;.	H	44	ENSP00000347942:Q44H;ENSP00000344798:Q44H	ENSP00000344798:Q44H	Q	+	3	2	RET	42915971	1.000000	0.71417	0.998000	0.56505	0.523000	0.34469	1.576000	0.36504	1.340000	0.45581	0.655000	0.94253	CAG		0.612	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		19	41	1	0	7.21e-19	1.45e-18	19	41				
GDF10	2662	broad.mit.edu	37	10	48438504	48438504	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:48438504G>A	ENST00000224605.2	-	1	472	c.207C>T	c.(205-207)ccC>ccT	p.P69P		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	69					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CCTGGGCGCTGGGGCCCAACG	0.741																																						uc001jfb.2		NA																	0				lung(1)|central_nervous_system(1)	2						c.(205-207)CCC>CCT		growth differentiation factor 10 precursor							10.0	10.0	10.0					10																	48438504		2174	4263	6437	SO:0001819	synonymous_variant	2662				growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr10:48438504G>A	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.207C>T	10.37:g.48438504G>A						GDF10_uc009xnp.2_Silent_p.P69P|GDF10_uc009xnq.1_Silent_p.P69P	p.P69P	NM_004962	NP_004953	P55107	BMP3B_HUMAN			1	663	-			69					Q5VSQ8|Q9UCX6	Silent	SNP	ENST00000224605.2	37	c.207C>T	CCDS7220.1																																																																																				0.741	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047884.1	NM_004962		8	14	0	0	0	0	8	14				
FRMPD2	143162	broad.mit.edu	37	10	49431169	49431169	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:49431169A>T	ENST00000374201.3	-	11	1615	c.1313T>A	c.(1312-1314)cTc>cAc	p.L438H	FRMPD2_ENST00000407470.4_Missense_Mutation_p.L407H|FRMPD2_ENST00000305531.3_Missense_Mutation_p.L414H	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	438	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CACTCACTGGAGCAGCCCATA	0.473																																						uc001jgi.2		NA																	0				large_intestine(1)	1						c.(1312-1314)CTC>CAC		FERM and PDZ domain containing 2 isoform 3							85.0	81.0	83.0					10																	49431169		2203	4300	6503	SO:0001583	missense	143162				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	g.chr10:49431169A>T	AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1313T>A	10.37:g.49431169A>T	ENSP00000363317:p.Leu438His					FRMPD2_uc001jgh.2_Missense_Mutation_p.L407H|FRMPD2_uc001jgj.2_Missense_Mutation_p.L416H	p.L438H	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN		Kidney(211;0.201)	11	1420	-			438			FERM.		B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	c.1313T>A	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.255194	0.59321	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.80033	-1.33;-1.33;-1.33	5.41	5.41	0.78517	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	.	.	.	.	D	0.91835	0.7416	M	0.93462	3.42	0.38916	D	0.957636	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.98;0.998;0.98	D	0.94325	0.7557	9	0.87932	D	0	.	13.3848	0.60789	1.0:0.0:0.0:0.0	.	414;438;407	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	H	438;414;407	ENSP00000363317:L438H;ENSP00000307079:L414H;ENSP00000384339:L407H	ENSP00000307079:L414H	L	-	2	0	FRMPD2	49101175	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	7.226000	0.78060	2.059000	0.61396	0.459000	0.35465	CTC		0.473	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428		30	59	0	0	0	0	30	59				
ERCC6	2074	broad.mit.edu	37	10	50667067	50667067	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:50667067C>G	ENST00000355832.5	-	21	4354	c.4276G>C	c.(4276-4278)Gac>Cac	p.D1426H	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.D796H|ERCC6_ENST00000465653.1_5'Flank	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1426	Ubiquitin-binding domain (UBD).				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACCAGAAGGTCATCGTGTTCT	0.527								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NA																	0				lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(4276-4278)GAC>CAC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							110.0	101.0	104.0					10																	50667067		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50667067C>G	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.4276G>C	10.37:g.50667067C>G	ENSP00000348089:p.Asp1426His					ERCC6_uc009xod.2_Missense_Mutation_p.D586H|ERCC6_uc010qgr.1_Missense_Mutation_p.D796H|ERCC6_uc001jhr.3_Missense_Mutation_p.D794H	p.D1426H	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			21	4430	-			1426			Ubiquitin-binding domain (UBD).		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.4276G>C	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754164	0.89843	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83075	-1.68;-1.4	5.73	5.73	0.89815	.	.	.	.	.	D	0.86548	0.5959	M	0.64997	1.995	0.51482	D	0.999926	D;D	0.55172	0.97;0.97	P;P	0.49708	0.62;0.62	D	0.86737	0.1952	9	0.56958	D	0.05	-15.0262	20.2602	0.98440	0.0:1.0:0.0:0.0	.	1426;803	Q03468;Q59FF6	ERCC6_HUMAN;.	H	1426;803;796	ENSP00000348089:D1426H;ENSP00000445134:D796H	ENSP00000348089:D1426H	D	-	1	0	ERCC6	50337073	1.000000	0.71417	0.573000	0.28510	0.866000	0.49608	7.252000	0.78309	2.861000	0.98227	0.655000	0.94253	GAC		0.527	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		25	70	0	0	0	0	25	70				
OGDHL	55753	broad.mit.edu	37	10	50966454	50966454	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:50966454T>A	ENST00000374103.4	-	2	270	c.185A>T	c.(184-186)aAc>aTc	p.N62I	OGDHL_ENST00000419399.1_Missense_Mutation_p.N62I|OGDHL_ENST00000432695.1_Intron	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	62					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACTCTGGGGGTTTTCCAACCA	0.662																																						uc001jie.2		NA																	0				pancreas(1)	1						c.(184-186)AAC>ATC		oxoglutarate dehydrogenase-like isoform a							70.0	73.0	72.0					10																	50966454		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50966454T>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.185A>T	10.37:g.50966454T>A	ENSP00000363216:p.Asn62Ile					OGDHL_uc009xog.2_Missense_Mutation_p.N89I|OGDHL_uc010qgt.1_Missense_Mutation_p.N62I|OGDHL_uc010qgu.1_Intron|OGDHL_uc009xoh.2_Intron	p.N62I	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			2	327	-			62					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.185A>T	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237387	0.58886	.	.	ENSG00000197444	ENST00000374103;ENST00000419399	T;T	0.39406	1.08;3.27	5.91	5.91	0.95273	.	0.048089	0.85682	D	0.000000	T	0.49474	0.1559	L	0.53671	1.685	0.80722	D	1	P;B	0.44195	0.828;0.141	P;B	0.48400	0.576;0.238	T	0.52260	-0.8599	10	0.87932	D	0	.	14.3004	0.66346	0.0:0.0:0.0:1.0	.	62;62	Q9ULD0-2;Q9ULD0	.;OGDHL_HUMAN	I	62	ENSP00000363216:N62I;ENSP00000401356:N62I	ENSP00000363216:N62I	N	-	2	0	OGDHL	50636460	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	7.003000	0.76310	2.254000	0.74563	0.533000	0.62120	AAC		0.662	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		31	92	0	0	0	0	31	92				
A1CF	29974	broad.mit.edu	37	10	52575947	52575947	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:52575947G>A	ENST00000373993.1	-	7	1004	c.960C>T	c.(958-960)ggC>ggT	p.G320G	ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Silent_p.G320G|A1CF_ENST00000373995.3_Silent_p.G328G|A1CF_ENST00000395489.2_Silent_p.G313G|A1CF_ENST00000282641.2_Silent_p.G320G|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000374001.2_Silent_p.G320G|A1CF_ENST00000395495.1_Silent_p.G265G			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	320					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GCAGCATGGTGCCCCTTCCAC	0.517																																						uc001jjj.2		NA																	0				central_nervous_system(1)	1						c.(958-960)GGC>GGT		apobec-1 complementation factor isoform 2							172.0	165.0	167.0					10																	52575947		2203	4300	6503	SO:0001819	synonymous_variant	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52575947G>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.960C>T	10.37:g.52575947G>A						A1CF_uc010qhn.1_Silent_p.G328G|A1CF_uc001jji.2_Silent_p.G320G|A1CF_uc001jjh.2_Silent_p.G328G|A1CF_uc010qho.1_Silent_p.G328G|A1CF_uc009xov.2_Silent_p.G320G	p.G320G	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			9	1148	-			320					A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Silent	SNP	ENST00000373993.1	37	c.960C>T	CCDS7242.1																																																																																				0.517	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576		12	53	0	0	0	0	12	53				
PCDH15	65217	broad.mit.edu	37	10	55569197	55569197	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:55569197G>T	ENST00000395445.1	-	36	5007	c.4613C>A	c.(4612-4614)aCa>aAa	p.T1538K	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.T472K|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.T734K|PCDH15_ENST00000395442.1_Missense_Mutation_p.T403K|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCCATGTTGTGTATGTAGG	0.398										HNSCC(58;0.16)																												uc010qhs.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4627-4629)ACA>AAA		protocadherin 15 isoform CD2-1 precursor							184.0	174.0	177.0					10																	55569197		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55569197G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000395445.1:c.4613C>A	10.37:g.55569197G>T	ENSP00000378832:p.Thr1538Lys	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.T1536K|PCDH15_uc010qhu.1_3'UTR	p.T1543K	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN			37	5023	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000395445.1	37	c.4628C>A		.	.	.	.	.	.	.	.	.	.	G	12.54	1.969867	0.34754	.	.	ENSG00000150275	ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440	T;T;T;T	0.61859	0.32;0.07;0.42;0.31	5.88	4.88	0.63580	.	.	.	.	.	T	0.36853	0.0982	N	0.08118	0	0.19775	N	0.999953	B;B	0.23735	0.09;0.09	B;B	0.14023	0.01;0.01	T	0.12016	-1.0564	9	0.36615	T	0.2	.	11.9074	0.52719	0.1134:0.0:0.8866:0.0	.	1536;1538	C6ZEF5;A2A3E2	.;.	K	1538;734;403;472	ENSP00000378832:T1538K;ENSP00000378833:T734K;ENSP00000378829:T403K;ENSP00000378827:T472K	ENSP00000378827:T472K	T	-	2	0	PCDH15	55239203	0.000000	0.05858	0.039000	0.18376	0.909000	0.53808	0.404000	0.20999	2.778000	0.95560	0.655000	0.94253	ACA		0.398	PCDH15-007	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291335.1	NM_033056		52	151	1	0	1.36e-18	2.74e-18	52	151				
PCDH15	65217	broad.mit.edu	37	10	56106245	56106245	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:56106245C>A	ENST00000320301.6	-	6	869		c.e6-1		PCDH15_ENST00000395438.1_Splice_Site|PCDH15_ENST00000395440.1_Splice_Site|PCDH15_ENST00000373965.2_Splice_Site|PCDH15_ENST00000414778.1_Splice_Site|PCDH15_ENST00000373957.3_Splice_Site|PCDH15_ENST00000395430.1_Splice_Site|PCDH15_ENST00000437009.1_Splice_Site|PCDH15_ENST00000373955.1_Splice_Site|PCDH15_ENST00000395445.1_Splice_Site|PCDH15_ENST00000395433.1_Splice_Site|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000361849.3_Splice_Site|PCDH15_ENST00000395446.1_Splice_Site|PCDH15_ENST00000395432.2_Splice_Site|PCDH15_ENST00000395442.1_Splice_Site|PCDH15_ENST00000409834.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15						equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGGAGTGAGCTGAAAGGAAA	0.338										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.e6-1		protocadherin 15 isoform CD1-4 precursor							133.0	138.0	136.0					10																	56106245		2203	4300	6503	SO:0001630	splice_region_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:56106245C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.475-1G>T	10.37:g.56106245C>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Splice_Site_p.L164_splice|PCDH15_uc010qhr.1_Splice_Site_p.L159_splice|PCDH15_uc010qhs.1_Splice_Site_p.L164_splice|PCDH15_uc010qht.1_Splice_Site_p.L159_splice|PCDH15_uc010qhu.1_Splice_Site_p.L159_splice|PCDH15_uc001jjv.1_Splice_Site_p.L137_splice|PCDH15_uc010qhv.1_Splice_Site_p.L159_splice|PCDH15_uc010qhw.1_Splice_Site_p.L159_splice|PCDH15_uc010qhx.1_Splice_Site_p.L159_splice|PCDH15_uc010qhy.1_Splice_Site_p.L164_splice|PCDH15_uc010qhz.1_Splice_Site_p.L159_splice|PCDH15_uc010qia.1_Splice_Site_p.L137_splice|PCDH15_uc010qib.1_Splice_Site_p.L137_splice|PCDH15_uc001jjw.2_Splice_Site_p.L159_splice	p.L159_splice	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			6	870	-		Melanoma(3;0.117)|Lung SC(717;0.238)						A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Splice_Site	SNP	ENST00000320301.6	37	c.475_splice	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362472	0.82353	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8392	0.88710	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCDH15	55776251	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.137000	0.77295	2.514000	0.84764	0.650000	0.86243	.		0.338	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	Intron	34	89	1	0	2.27e-22	4.66e-22	34	89				
ANK3	288	broad.mit.edu	37	10	62039399	62039399	+	Splice_Site	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:62039399T>G	ENST00000280772.2	-	2	306		c.e2-2		ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000503366.1_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGCATCAGACTAAAATAAAAA	0.333																																						uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.e2-1		ankyrin 3 isoform 1							73.0	79.0	77.0					10																	62039399		2202	4300	6502	SO:0001630	splice_region_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62039399T>G	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.115-2A>C	10.37:g.62039399T>G						ANK3_uc010qih.1_Splice_Site_p.S22_splice|ANK3_uc001jkz.3_Splice_Site_p.S33_splice|ANK3_uc001jlb.1_Splice_Site	p.S39_splice	NM_020987	NP_066267	Q12955	ANK3_HUMAN			2	307	-								B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Splice_Site	SNP	ENST00000280772.2	37	c.115_splice	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	T	17.46	3.395989	0.62177	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000373817;ENST00000503925	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0902	0.72188	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK3	61709405	1.000000	0.71417	0.936000	0.37596	0.643000	0.38383	7.782000	0.85680	2.149000	0.67028	0.533000	0.62120	.		0.333	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	Intron	25	64	0	0	0	0	25	64				
MYPN	84665	broad.mit.edu	37	10	69961674	69961674	+	Silent	SNP	C	C	A	rs139820597	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:69961674C>A	ENST00000358913.5	+	18	4070	c.3582C>A	c.(3580-3582)cgC>cgA	p.R1194R	MYPN_ENST00000354393.2_Silent_p.R919R|MYPN_ENST00000540630.1_Silent_p.R1194R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1194	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.R1194R(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGGAGTGCCGCGTGATAGGCA	0.547																																						uc001jnm.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(3580-3582)CGC>CGA		myopalladin							138.0	123.0	128.0					10																	69961674		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69961674C>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3582C>A	10.37:g.69961674C>A						MYPN_uc001jnn.3_Silent_p.R919R|MYPN_uc001jno.3_Silent_p.R1194R|MYPN_uc009xpt.2_Silent_p.R1194R|MYPN_uc010qit.1_Silent_p.R900R|MYPN_uc010qiu.1_RNA	p.R1194R	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			19	3767	+			1194			Interaction with ACTN.|Ig-like 5.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3582C>A	CCDS7275.1																																																																																				0.547	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		34	84	1	0	1.57e-10	2.83e-10	34	84				
CDH23	64072	broad.mit.edu	37	10	73550138	73550138	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:73550138A>G	ENST00000224721.6	+	45	6037	c.6032A>G	c.(6031-6033)cAg>cGg	p.Q2011R		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2006	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGGGTGCCCAGAGTGGCCTC	0.632																																						uc001jrx.3		NA																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(6016-6018)CAG>CGG		cadherin-like 23 isoform 1 precursor							44.0	49.0	47.0					10																	73550138		2072	4199	6271	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73550138A>G	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6032A>G	10.37:g.73550138A>G	ENSP00000224721:p.Gln2011Arg						p.Q2006R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			44	6394	+			2006			Cadherin 19.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.6017A>G		.	.	.	.	.	.	.	.	.	.	a	8.672	0.902999	0.17760	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.06	5.06	0.68205	Cadherin (3);Cadherin-like (1);	0.531595	0.19165	N	0.121092	T	0.35307	0.0927	N	0.10945	0.07	0.51767	D	0.999937	B	0.02656	0.0	B	0.01281	0.0	T	0.17776	-1.0358	9	0.13853	T	0.58	.	11.3082	0.49347	0.8015:0.1985:0.0:0.0	.	2006	Q9H251	CAD23_HUMAN	R	2011;2006;2009	.	ENSP00000224721:Q2011R	Q	+	2	0	CDH23	73220144	0.981000	0.34729	0.991000	0.47740	0.994000	0.84299	5.456000	0.66665	1.904000	0.55121	0.454000	0.30748	CAG		0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		11	36	0	0	0	0	11	36				
ZSWIM8	23053	broad.mit.edu	37	10	75558105	75558105	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:75558105C>A	ENST00000605216.1	+	20	4272	c.4055C>A	c.(4054-4056)tCc>tAc	p.S1352Y	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S1319Y|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1352Y|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.S1357Y|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1357Y	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1352							zinc ion binding (GO:0008270)										GCAAGAGACTCCAATATGGTG	0.617																																						uc009xrl.2		NA																	0				breast(1)	1						c.(4054-4056)TCC>TAC		hypothetical protein LOC23053							56.0	58.0	58.0					10																	75558105		2034	4198	6232	SO:0001583	missense	23053						zinc ion binding	g.chr10:75558105C>A	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4055C>A	10.37:g.75558105C>A	ENSP00000474748:p.Ser1352Tyr					KIAA0913_uc001jve.2_Missense_Mutation_p.S1357Y|KIAA0913_uc001jvf.2_Missense_Mutation_p.S1352Y|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.S787Y|KIAA0913_uc010qkr.1_Missense_Mutation_p.S775Y|KIAA0913_uc001jvj.2_Missense_Mutation_p.S775Y|KIAA0913_uc009xrn.1_5'Flank	p.S1352Y	NM_015037	NP_055852	A7E2V4	K0913_HUMAN			20	4087	+	Prostate(51;0.0112)		1352					B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37	c.4055C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.831512|2.831512	0.50845|0.50845	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000412198|ENST00000398706	.|T	.|0.48522	.|0.81	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.079282	.|0.52532	.|U	.|0.000074	T|T	0.58481|0.58481	0.2125|0.2125	L|L	0.57536|0.57536	1.79|1.79	0.45822|0.45822	D|D	0.998698|0.998698	.|P;D;P;P	.|0.54207	.|0.799;0.965;0.799;0.799	.|P;P;P;P	.|0.51135	.|0.466;0.66;0.466;0.466	T|T	0.62576|0.62576	-0.6825|-0.6825	5|10	.|0.87932	.|D	.|0	-7.4185|-7.4185	19.266|19.266	0.93985|0.93985	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1352;1364;1352;1357	.|A7E2V4;A7E2V4-3;A7E2V4-5;A7E2V4-4	.|K0913_HUMAN;.;.;.	T|Y	627|1357	.|ENSP00000381693:S1357Y	.|ENSP00000381693:S1357Y	P|S	+|+	1|2	0|0	KIAA0913|KIAA0913	75228111|75228111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.577000|5.577000	0.67444|0.67444	2.572000|2.572000	0.86782|0.86782	0.563000|0.563000	0.77884|0.77884	CCA|TCC		0.617	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487		20	57	1	0	8.01e-06	1.28e-05	20	57				
KAT6B	23522	broad.mit.edu	37	10	76788996	76788996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:76788996G>T	ENST00000287239.4	+	18	4903	c.4414G>T	c.(4414-4416)Gag>Tag	p.E1472*	KAT6B_ENST00000372725.1_Nonsense_Mutation_p.E1180*|KAT6B_ENST00000372724.1_Nonsense_Mutation_p.E1180*|KAT6B_ENST00000372711.1_Nonsense_Mutation_p.E1289*|KAT6B_ENST00000372714.1_Nonsense_Mutation_p.E1180*	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1472					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTCGAACCCAGAGGTCTTAAT	0.512																																						uc001jwn.1		NA								T					CREBBP		AML		0				central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16						c.(4414-4416)GAG>TAG		MYST histone acetyltransferase (monocytic							68.0	72.0	71.0					10																	76788996		2203	4300	6503	SO:0001587	stop_gained	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788996G>T	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4414G>T	10.37:g.76788996G>T	ENSP00000287239:p.Glu1472*					MYST4_uc001jwo.1_Nonsense_Mutation_p.E1180*|MYST4_uc001jwp.1_Nonsense_Mutation_p.E1289*	p.E1472*	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN			18	4907	+	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)		1472					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Nonsense_Mutation	SNP	ENST00000287239.4	37	c.4414G>T	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	38	6.701109	0.97772	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	.	.	.	4.7	3.79	0.43588	.	0.000000	0.50627	D	0.000119	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-9.4979	12.742	0.57257	0.0806:0.0:0.9194:0.0	.	.	.	.	X	1180;1180;1472;1180;1289	.	ENSP00000287239:E1472X	E	+	1	0	KAT6B	76459002	1.000000	0.71417	0.855000	0.33649	0.015000	0.08874	4.865000	0.62998	0.981000	0.38548	-0.136000	0.14681	GAG		0.512	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330		21	66	1	0	1.11e-12	2.05e-12	21	66				
KCNMA1	3778	broad.mit.edu	37	10	78729807	78729807	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:78729807G>C	ENST00000286628.8	-	20	2284	c.2285C>G	c.(2284-2286)tCa>tGa	p.S762*	KCNMA1_ENST00000372440.1_Nonsense_Mutation_p.S704*|KCNMA1_ENST00000404857.1_Nonsense_Mutation_p.S704*|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000372443.1_Nonsense_Mutation_p.S704*|KCNMA1_ENST00000406533.3_Nonsense_Mutation_p.S766*|KCNMA1_ENST00000354353.5_Nonsense_Mutation_p.S765*|RP11-443A13.5_ENST00000458661.2_RNA|RP11-443A13.5_ENST00000598613.1_RNA|KCNMA1_ENST00000286627.5_Nonsense_Mutation_p.S704*|KCNMA1_ENST00000404771.3_Nonsense_Mutation_p.S762*	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	762					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	TGATAGTGTTGACGGCTGCTC	0.483																																						uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(2284-2286)TCA>TGA		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						217.0	189.0	199.0					10																	78729807		2203	4300	6503	SO:0001587	stop_gained	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78729807G>C	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.2285C>G	10.37:g.78729807G>C	ENSP00000286628:p.Ser762*					KCNMA1_uc001jxj.2_Nonsense_Mutation_p.S708*|KCNMA1_uc001jxk.1_Nonsense_Mutation_p.S380*|KCNMA1_uc009xrt.1_Nonsense_Mutation_p.S553*|KCNMA1_uc001jxl.1_Nonsense_Mutation_p.S387*|KCNMA1_uc001jxo.2_Nonsense_Mutation_p.S704*|KCNMA1_uc001jxm.2_Nonsense_Mutation_p.S704*|KCNMA1_uc001jxq.2_Nonsense_Mutation_p.S707*	p.S762*	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		20	2462	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		762			Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Nonsense_Mutation	SNP	ENST00000286628.8	37	c.2285C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.205000|8.205000	0.98704|0.98704	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372403|ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|0.065229	.|0.64402	.|D	.|0.000004	T|.	0.80014|.	0.4546|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.78949|.	-0.2002|.	3|.	.|0.46703	.|T	.|0.11	-2.2717|-2.2717	19.7589|19.7589	0.96306|0.96306	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	E|X	655|704;641;697;736;699;704;704;736;766;765;704;515	.|.	.|ENSP00000286627:S704X	Q|S	-|-	1|2	0|0	KCNMA1|KCNMA1	78399813|78399813	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.955000|0.955000	0.61496|0.61496	9.218000|9.218000	0.95166|0.95166	2.662000|2.662000	0.90505|0.90505	0.557000|0.557000	0.71058|0.71058	CAA|TCA		0.483	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		22	84	0	0	0	0	22	84				
KCNMA1	3778	broad.mit.edu	37	10	78846339	78846339	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:78846339G>T	ENST00000286628.8	-	11	1346	c.1347C>A	c.(1345-1347)aaC>aaA	p.N449K	KCNMA1_ENST00000372440.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000484507.1_5'Flank|KCNMA1_ENST00000404857.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000372443.1_Missense_Mutation_p.N449K|KCNMA1_ENST00000406533.3_Missense_Mutation_p.N449K|KCNMA1_ENST00000354353.5_Missense_Mutation_p.N449K|KCNMA1_ENST00000286627.5_Missense_Mutation_p.N449K|KCNMA1_ENST00000404771.3_Missense_Mutation_p.N449K	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	449	RCK N-terminal.			N -> D (in Ref. 12; AAD31173). {ECO:0000305}.	blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CAAGCTCCAGGTTGGGGGAGA	0.468																																						uc001jxn.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1345-1347)AAC>AAA		large conductance calcium-activated potassium	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)						70.0	69.0	69.0					10																	78846339		2203	4300	6503	SO:0001583	missense	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78846339G>T	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.1347C>A	10.37:g.78846339G>T	ENSP00000286628:p.Asn449Lys					KCNMA1_uc001jxj.2_Missense_Mutation_p.N449K|KCNMA1_uc001jxk.1_Missense_Mutation_p.N64K|KCNMA1_uc009xrt.1_Missense_Mutation_p.N269K|KCNMA1_uc001jxl.1_Missense_Mutation_p.N103K|KCNMA1_uc001jxo.2_Missense_Mutation_p.N449K|KCNMA1_uc001jxm.2_Missense_Mutation_p.N449K|KCNMA1_uc001jxq.2_Missense_Mutation_p.N449K	p.N449K	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		11	1524	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		449	N -> D (in Ref. 12; AAD31173).		RCK N-terminal.|Cytoplasmic (Potential).		F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37	c.1347C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.42|16.42|16.42	3.118131|3.118131|3.118131	0.56505|0.56505|0.56505	.|.|.	.|.|.	ENSG00000156113|ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857;ENST00000412708|ENST00000372421;ENST00000434208|ENST00000372403	T;T;T;T;T;T;T;T;T;T|.|.	0.71817|.|.	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6;-0.36;-0.6;-0.6;-0.6|.|.	6.17|6.17|6.17	6.17|6.17|6.17	0.99709|0.99709|0.99709	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.62171|0.62171|0.62171	0.2406|0.2406|0.2406	L|L|L	0.46157|0.46157|0.46157	1.445|1.445|1.445	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;B;B;P;B;B;B;B|.|.	0.49862|.|.	0.929;0.117;0.096;0.674;0.096;0.019;0.383;0.184|.|.	B;B;B;B;B;B;B;B|.|.	0.42343|.|.	0.384;0.039;0.023;0.31;0.023;0.011;0.065;0.039|.|.	T|T|T	0.56390|0.56390|0.56390	-0.7987|-0.7987|-0.7987	10|5|5	0.72032|.|.	D|.|.	0.01|.|.	-20.3214|-20.3214|-20.3214	13.9957|13.9957|13.9957	0.64397|0.64397|0.64397	0.0685:0.0:0.9315:0.0|0.0685:0.0:0.9315:0.0|0.0685:0.0:0.9315:0.0	.|.|.	449;449;449;449;449;231;449;449|.|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;C9JFZ9;F8WA96;Q5SVJ7|.|.	.;.;.;KCMA1_HUMAN;.;.;.;.|.|.	K|T|N	449;386;384;423;386;449;449;423;449;449;449;231|438;128|400	ENSP00000361517:N449K;ENSP00000361485:N386K;ENSP00000361514:N384K;ENSP00000396608:N423K;ENSP00000361520:N449K;ENSP00000286627:N449K;ENSP00000286628:N423K;ENSP00000385552:N449K;ENSP00000346321:N449K;ENSP00000385806:N449K|.|.	ENSP00000286627:N449K|.|.	N|P|T	-|-|-	3|1|2	2|0|0	KCNMA1|KCNMA1|KCNMA1	78516345|78516345|78516345	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.928000|0.928000|0.928000	0.56348|0.56348|0.56348	5.187000|5.187000|5.187000	0.65087|0.65087|0.65087	2.941000|2.941000|2.941000	0.99782|0.99782|0.99782	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAC|CCT|ACC		0.468	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247		16	26	1	0	8.6e-14	1.63e-13	16	26				
NRG3	10718	broad.mit.edu	37	10	84745231	84745231	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:84745231G>C	ENST00000404547.1	+	10	2033	c.2033G>C	c.(2032-2034)aGc>aCc	p.S678T	NRG3_ENST00000372141.2_Missense_Mutation_p.S654T|NRG3_ENST00000404576.2_Missense_Mutation_p.S458T|NRG3_ENST00000545131.1_Missense_Mutation_p.S304T|NRG3_ENST00000537893.1_Missense_Mutation_p.S304T|NRG3_ENST00000372142.2_Missense_Mutation_p.S457T|NRG3_ENST00000556918.1_Missense_Mutation_p.S484T			P56975	NRG3_HUMAN	neuregulin 3	678					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GAACTGGCCAGCGTAGAAACC	0.473																																						uc001kco.2		NA																	0				lung(5)|breast(1)	6						c.(1960-1962)AGC>ACC		neuregulin 3 isoform 1							75.0	70.0	71.0					10																	84745231		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745231G>C	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2033G>C	10.37:g.84745231G>C	ENSP00000384796:p.Ser678Thr					NRG3_uc010qlz.1_Missense_Mutation_p.S653T|NRG3_uc001kcp.2_Missense_Mutation_p.S457T|NRG3_uc001kcq.2_Missense_Mutation_p.S304T|NRG3_uc001kcr.2_Missense_Mutation_p.S328T	p.S654T	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	1988	+			678			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1961G>C	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846969	0.32606	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54866	1.19;1.15;1.17;0.55;1.12;0.67;0.67	5.54	5.54	0.83059	.	0.215941	0.45606	D	0.000351	T	0.46171	0.1379	L	0.43152	1.355	0.46061	D	0.998848	B;P;B;P	0.42871	0.136;0.792;0.417;0.792	B;B;B;B	0.40066	0.074;0.318;0.215;0.254	T	0.51108	-0.8747	10	0.72032	D	0.01	-31.0248	12.0007	0.53228	0.0:0.0:0.8273:0.1727	.	653;678;457;654	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	T	654;678;653;457;458;484;304;304	ENSP00000361214:S654T;ENSP00000384796:S678T;ENSP00000361215:S457T;ENSP00000385804:S458T;ENSP00000451376:S484T;ENSP00000441201:S304T;ENSP00000440377:S304T	ENSP00000361214:S654T	S	+	2	0	NRG3	84735211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.438000	0.52871	2.615000	0.88500	0.655000	0.94253	AGC		0.473	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		17	26	0	0	0	0	17	26				
C10orf99	387695	broad.mit.edu	37	10	85944465	85944465	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:85944465C>A	ENST00000372126.3	+	3	303	c.189C>A	c.(187-189)tgC>tgA	p.C63*	C10orf99_ENST00000472542.1_Intron	NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	63						extracellular region (GO:0005576)				endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GTAAACCATGCAAGCTTGAGC	0.577																																						uc001kcu.2		NA																	0				pancreas(1)	1						c.(187-189)TGC>TGA		hypothetical protein LOC387695 precursor							103.0	91.0	95.0					10																	85944465		2203	4300	6503	SO:0001587	stop_gained	387695					extracellular region		g.chr10:85944465C>A	AY358751	CCDS7371.1	10q23.2	2014-04-16			ENSG00000188373	ENSG00000188373			31428	protein-coding gene	gene with protein product						12975309	Standard	NM_207373		Approved	UNQ1833, RLLV1833, FLJ21763	uc001kcu.3	Q6UWK7	OTTHUMG00000018635	ENST00000372126.3:c.189C>A	10.37:g.85944465C>A	ENSP00000361199:p.Cys63*						p.C63*	NM_207373	NP_997256	Q6UWK7	CJ099_HUMAN			3	243	+			63						Nonsense_Mutation	SNP	ENST00000372126.3	37	c.189C>A	CCDS7371.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756956	0.49362	.	.	ENSG00000188373	ENST00000372126	.	.	.	3.83	2.93	0.34026	.	0.000000	0.36854	U	0.002362	.	.	.	.	.	.	0.45205	D	0.998213	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3916	0.26913	0.0:0.8816:0.0:0.1184	.	.	.	.	X	63	.	ENSP00000361199:C63X	C	+	3	2	C10orf99	85934445	0.998000	0.40836	0.943000	0.38184	0.023000	0.10783	1.484000	0.35508	1.201000	0.43203	0.585000	0.79938	TGC		0.577	C10orf99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049114.1	NM_207373		24	58	1	0	1.77e-15	3.45e-15	24	58				
FAS	355	broad.mit.edu	37	10	90762893	90762893	+	Silent	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:90762893T>A	ENST00000355279.2	+	2	138	c.138T>A	c.(136-138)acT>acA	p.T46T	FAS_ENST00000355740.2_Silent_p.T46T|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Silent_p.T46T|FAS_ENST00000357339.2_Silent_p.T46T			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	CAGTTGAGACTCAGAACTTGG	0.443																																						uc001kfr.2		NA																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(136-138)ACT>ACA		tumor necrosis factor receptor superfamily,							132.0	119.0	123.0					10																	90762893		2203	4300	6503	SO:0001819	synonymous_variant	355	Autoimmune_Lymphoproliferative_syndrome_type_I			activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90762893T>A	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.138T>A	10.37:g.90762893T>A						FAS_uc010qna.1_RNA|FAS_uc001kfs.2_Silent_p.T46T|FAS_uc001kft.2_Silent_p.T46T|FAS_uc010qnb.1_RNA|FAS_uc010qnc.1_RNA|FAS_uc001kfw.2_Silent_p.T46T|FAS_uc010qnd.1_RNA|FAS_uc010qne.1_RNA|FAS_uc009xtp.2_RNA	p.T46T	NM_000043	NP_000034	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	2	484	+		Colorectal(252;0.0161)	46			Extracellular (Potential).		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000355279.2	37	c.138T>A	CCDS7395.1																																																																																				0.443	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			27	64	0	0	0	0	27	64				
TNKS2	80351	broad.mit.edu	37	10	93601155	93601155	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:93601155C>A	ENST00000371627.4	+	15	2168	c.1789C>A	c.(1789-1791)Cat>Aat	p.H597N		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	597					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TACACCTTTACATGAAGCAGC	0.323																																						uc001khp.2		NA																	0				kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(1789-1791)CAT>AAT		tankyrase, TRF1-interacting ankyrin-related							97.0	93.0	94.0					10																	93601155		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93601155C>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1789C>A	10.37:g.93601155C>A	ENSP00000360689:p.His597Asn						p.H597N	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			15	2086	+		Colorectal(252;0.162)	597			ANK 12.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.1789C>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891938	0.91889	.	.	ENSG00000107854	ENST00000371627	T	0.71698	-0.59	5.56	5.56	0.83823	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000006	D	0.87087	0.6090	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88455	0.3051	10	0.87932	D	0	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	597	Q9H2K2	TNKS2_HUMAN	N	597	ENSP00000360689:H597N	ENSP00000360689:H597N	H	+	1	0	TNKS2	93591135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.776000	0.95493	0.655000	0.94253	CAT		0.323	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		17	57	1	0	2.94e-08	5.05e-08	17	57				
CYP2C19	1557	broad.mit.edu	37	10	96535277	96535277	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:96535277G>C	ENST00000371321.3	+	3	544	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	154					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GCCTTGTGGAGGAGTTGAGAA	0.517																																						uc010qnz.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(460-462)GAG>GAC		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						162.0	158.0	159.0					10																	96535277		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96535277G>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.462G>C	10.37:g.96535277G>C	ENSP00000360372:p.Glu154Asp					CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.E132D	p.E154D	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	3	462	+		Colorectal(252;0.09)	154					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.462G>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	9.221	1.033359	0.19590	.	.	ENSG00000165841	ENST00000371321	T	0.69561	-0.41	3.9	1.95	0.26073	.	0.410887	0.20796	U	0.085529	T	0.49064	0.1535	L	0.35288	1.05	0.20074	N	0.999937	B	0.15930	0.015	B	0.16289	0.015	T	0.39440	-0.9614	10	0.51188	T	0.08	.	4.072	0.09887	0.2125:0.0:0.6052:0.1822	.	154	P33261	CP2CJ_HUMAN	D	154	ENSP00000360372:E154D	ENSP00000360372:E154D	E	+	3	2	CYP2C19	96525267	0.292000	0.24362	0.938000	0.37757	0.574000	0.36063	0.277000	0.18734	0.226000	0.20979	0.405000	0.27470	GAG		0.517	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		39	121	0	0	0	0	39	121				
ABCC2	1244	broad.mit.edu	37	10	101544522	101544522	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:101544522T>A	ENST00000370449.4	+	2	304	c.191T>A	c.(190-192)cTc>cAc	p.L64H	ABCC2_ENST00000370434.1_Missense_Mutation_p.L64H	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	64					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACCACCAAACTCTATCTTGCT	0.473																																						uc001kqf.2		NA																	0				ovary(1)	1						c.(190-192)CTC>CAC		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						97.0	95.0	96.0					10																	101544522		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101544522T>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.191T>A	10.37:g.101544522T>A	ENSP00000359478:p.Leu64His						p.L64H	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	2	330	+		Colorectal(252;0.234)	64			Cytoplasmic (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.191T>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926477	0.34002	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	T;T	0.58652	0.32;0.32	5.7	3.28	0.37604	.	0.456770	0.25324	N	0.031481	T	0.62841	0.2461	M	0.90082	3.085	0.36536	D	0.871023	B	0.20261	0.043	B	0.24006	0.05	T	0.64841	-0.6312	10	0.87932	D	0	-13.643	8.2752	0.31868	0.1322:0.0:0.1385:0.7293	.	64	Q92887	MRP2_HUMAN	H	64	ENSP00000359478:L64H;ENSP00000359463:L64H	ENSP00000359463:L64H	L	+	2	0	ABCC2	101534512	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	4.907000	0.63300	0.390000	0.25115	0.459000	0.35465	CTC		0.473	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		28	55	0	0	0	0	28	55				
ELOVL3	83401	broad.mit.edu	37	10	103988898	103988898	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:103988898A>G	ENST00000370005.3	+	4	923	c.702A>G	c.(700-702)gaA>gaG	p.E234E		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	234					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, monounsaturated fatty acid (GO:0034625)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|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 membrane (GO:0016021)	transferase activity (GO:0016740)			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCACGATGGAACACTTATTCT	0.498																																						uc001kut.2		NA																	0				ovary(2)	2						c.(700-702)GAA>GAG		elongation of very long chain fatty acids like							201.0	172.0	182.0					10																	103988898		2203	4300	6503	SO:0001819	synonymous_variant	83401				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr10:103988898A>G	AF292387	CCDS7531.1	10q24	2011-05-25	2011-05-25		ENSG00000119915	ENSG00000119915			18047	protein-coding gene	gene with protein product		611815	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 3"""				Standard	NM_152310		Approved	CIG-30	uc001kut.3	Q9HB03	OTTHUMG00000018951	ENST00000370005.3:c.702A>G	10.37:g.103988898A>G							p.E234E	NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)	4	865	+		Colorectal(252;0.207)	234					Q5VZL3|Q8N180	Silent	SNP	ENST00000370005.3	37	c.702A>G	CCDS7531.1																																																																																				0.498	ELOVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050030.1	NM_152310		15	37	0	0	0	0	15	37				
PDCD4	27250	broad.mit.edu	37	10	112647635	112647635	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:112647635A>T	ENST00000280154.7	+	6	1042	c.768A>T	c.(766-768)agA>agT	p.R256S	PDCD4_ENST00000393104.2_Missense_Mutation_p.R245S|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	256	MI 1. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		ATACTCCTAGAGCACCACAGG	0.353																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(766-768)AGA>AGT		programmed cell death 4 isoform 1							108.0	103.0	105.0					10																	112647635		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112647635A>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.768A>T	10.37:g.112647635A>T	ENSP00000280154:p.Arg256Ser					PDCD4_uc001kzg.2_Missense_Mutation_p.R245S|PDCD4_uc010qre.1_Missense_Mutation_p.R242S	p.R256S	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	1011	+		Breast(234;0.0848)|Lung NSC(174;0.238)	256			MI 1.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.768A>T	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931366	0.52866	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.28895	1.59;1.59	5.72	3.31	0.37934	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.089089	0.85682	D	0.000000	T	0.17408	0.0418	N	0.14661	0.345	0.52501	D	0.999955	B;B;B	0.19073	0.033;0.033;0.033	B;B;B	0.18871	0.023;0.023;0.023	T	0.04840	-1.0923	10	0.36615	T	0.2	-23.0963	9.4578	0.38764	0.7787:0.0:0.2213:0.0	.	242;256;245	B4DKX4;Q53EL6;B5ME91	.;PDCD4_HUMAN;.	S	256;245	ENSP00000280154:R256S;ENSP00000376816:R245S	ENSP00000280154:R256S	R	+	3	2	PDCD4	112637625	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.421000	0.44688	0.483000	0.27608	0.528000	0.53228	AGA		0.353	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		14	28	0	0	0	0	14	28				
DCLRE1A	9937	broad.mit.edu	37	10	115608754	115608754	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:115608754A>G	ENST00000361384.2	-	2	3027	c.2110T>C	c.(2110-2112)Tat>Cat	p.Y704H	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.Y704H	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	704					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		ATTTTCTTATAGAATGGACAT	0.378								Other identified genes with known or suspected DNA repair function																														uc001law.2		NA																	0				skin(2)	2						c.(2110-2112)TAT>CAT	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							169.0	181.0	177.0					10																	115608754		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115608754A>G		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2110T>C	10.37:g.115608754A>G	ENSP00000355185:p.Tyr704His						p.Y704H	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	3028	-			704					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2110T>C	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.559135	0.65538	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.68903	-0.36;-0.36	5.61	5.61	0.85477	Beta-lactamase-like (1);	0.000000	0.85682	D	0.000000	T	0.75657	0.3879	M	0.77103	2.36	0.54753	D	0.999981	P	0.42483	0.781	P	0.49799	0.622	T	0.78836	-0.2047	10	0.66056	D	0.02	-24.7187	13.4731	0.61292	1.0:0.0:0.0:0.0	.	704	Q6PJP8	DCR1A_HUMAN	H	704	ENSP00000355185:Y704H;ENSP00000358311:Y704H	ENSP00000355185:Y704H	Y	-	1	0	DCLRE1A	115598744	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	6.698000	0.74608	2.254000	0.74563	0.533000	0.62120	TAT		0.378	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		67	136	0	0	0	0	67	136				
ATRNL1	26033	broad.mit.edu	37	10	117075142	117075142	+	Missense_Mutation	SNP	G	G	A	rs140980345		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:117075142G>A	ENST00000355044.3	+	18	3059	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R75Q|ATRNL1_ENST00000303745.7_5'UTR	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	978	PSI 5.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GGTTCTTCACGGGGACCAATG	0.458																																						uc001lcg.2		NA																	0				ovary(5)|lung(1)|central_nervous_system(1)	7						c.(2932-2934)CGG>CAG		attractin-like 1 precursor		G	GLN/ARG	0,4406		0,0,2203	148.0	132.0	137.0		2933	5.3	0.6	10	dbSNP_134	137	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATRNL1	NM_207303.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	978/1380	117075142	1,13005	2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117075142G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.2933G>A	10.37:g.117075142G>A	ENSP00000347152:p.Arg978Gln					ATRNL1_uc010qsm.1_Missense_Mutation_p.R153Q|ATRNL1_uc010qsn.1_RNA	p.R978Q	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	18	3319	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	978			PSI 5.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.2933G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039398	0.75617	0.0	1.16E-4	ENSG00000107518	ENST00000355044;ENST00000423111	T;T	0.22743	2.56;1.94	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.48150	0.1484	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.35101	-0.9802	10	0.22109	T	0.4	-14.3663	19.0432	0.93010	0.0:0.0:1.0:0.0	.	75;978	B4DH41;Q5VV63	.;ATRN1_HUMAN	Q	978;75	ENSP00000347152:R978Q;ENSP00000409624:R75Q	ENSP00000347152:R978Q	R	+	2	0	ATRNL1	117065132	1.000000	0.71417	0.577000	0.28562	0.987000	0.75469	7.744000	0.85034	2.510000	0.84645	0.455000	0.32223	CGG		0.458	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		27	67	0	0	0	0	27	67				
KCNK18	338567	broad.mit.edu	37	10	118957144	118957144	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:118957144G>T	ENST00000334549.1	+	1	145	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	49					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GGACGGCCAGGTCCTGGTGGC	0.572																																						uc010qsr.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(145-147)GTC>TTC		potassium channel, subfamily K, member 18							101.0	84.0	90.0					10																	118957144		2203	4300	6503	SO:0001583	missense	338567					integral to membrane|plasma membrane		g.chr10:118957144G>T	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.145G>T	10.37:g.118957144G>T	ENSP00000334650:p.Val49Phe						p.V49F	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	1	145	+		Colorectal(252;0.19)	49					Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	37	c.145G>T	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478872	0.26511	.	.	ENSG00000186795	ENST00000334549	T	0.24538	1.85	4.17	1.34	0.21922	.	1.149620	0.06287	N	0.698401	T	0.14056	0.0340	N	0.08118	0	0.09310	N	1	B	0.27679	0.185	B	0.26202	0.067	T	0.32079	-0.9920	10	0.87932	D	0	.	6.1634	0.20376	0.4168:0.0:0.5832:0.0	.	49	Q7Z418	KCNKI_HUMAN	F	49	ENSP00000334650:V49F	ENSP00000334650:V49F	V	+	1	0	KCNK18	118947134	0.027000	0.19231	0.002000	0.10522	0.222000	0.24845	0.801000	0.27055	0.315000	0.23110	0.561000	0.74099	GTC		0.572	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		16	49	1	0	3.46e-05	5.44e-05	16	49				
HTRA1	5654	broad.mit.edu	37	10	124266322	124266322	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:124266322G>T	ENST00000368984.3	+	4	1021	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	298	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				GGGATCGTGAGCACCACCCAG	0.622																																						uc001lgj.2		NA																	0					0						c.(892-894)AGC>ATC		HtrA serine peptidase 1 precursor							84.0	71.0	75.0					10																	124266322		2203	4300	6503	SO:0001583	missense	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124266322G>T	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.893G>T	10.37:g.124266322G>T	ENSP00000357980:p.Ser298Ile						p.S298I	NM_002775	NP_002766	Q92743	HTRA1_HUMAN			4	1021	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	298			Serine protease.		D3DRE4|Q9UNS5	Missense_Mutation	SNP	ENST00000368984.3	37	c.893G>T	CCDS7630.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177916	0.94846	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	D;D	0.90324	-2.65;-2.52	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.85682	D	0.000000	D	0.96858	0.8974	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97891	1.0297	10	0.87932	D	0	-10.4956	18.8615	0.92273	0.0:0.0:1.0:0.0	.	298	Q92743	HTRA1_HUMAN	I	298;265;39	ENSP00000357980:S298I;ENSP00000412676:S39I	ENSP00000357980:S298I	S	+	2	0	HTRA1	124256312	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.613000	0.98350	2.456000	0.83038	0.655000	0.94253	AGC		0.622	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	NM_002775		25	75	1	0	8.25e-16	1.62e-15	25	75				
DMBT1	1755	broad.mit.edu	37	10	124339216	124339216	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:124339216G>A	ENST00000338354.3	+	10	908	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	DMBT1_ENST00000344338.3_Missense_Mutation_p.A268T|DMBT1_ENST00000368956.2_Missense_Mutation_p.A268T|DMBT1_ENST00000368909.3_Missense_Mutation_p.A268T|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.A268T|DMBT1_ENST00000368955.3_Missense_Mutation_p.A268T			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	268	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCAATGATGCCAATGTGGT	0.607																																					Ovarian(182;93 2026 18125 22222 38972)	uc001lgk.1		NA																	0				central_nervous_system(7)	7						c.(802-804)GCC>ACC		deleted in malignant brain tumors 1 isoform b							215.0	214.0	214.0					10																	124339216		2004	4169	6173	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124339216G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.802G>A	10.37:g.124339216G>A	ENSP00000342210:p.Ala268Thr					DMBT1_uc001lgl.1_Missense_Mutation_p.A268T|DMBT1_uc001lgm.1_Missense_Mutation_p.A268T|DMBT1_uc009xzz.1_Missense_Mutation_p.A268T|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.A120T	p.A268T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN			10	908	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	268			SRCR 2.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.802G>A		.	.	.	.	.	.	.	.	.	.	G	24.3	4.512140	0.85389	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956	T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82	4.07	4.07	0.47477	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.80909	0.4714	H	0.98314	4.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.993;0.998;0.991;0.958;1.0	D	0.89374	0.3677	9	0.72032	D	0.01	.	16.7077	0.85376	0.0:0.0:1.0:0.0	.	268;268;268;268;268	Q9UGM3-4;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	T	268	ENSP00000342210:A268T;ENSP00000343175:A268T;ENSP00000327747:A268T;ENSP00000357905:A268T;ENSP00000357951:A268T;ENSP00000357952:A268T	ENSP00000331522:A268T	A	+	1	0	DMBT1	124329206	1.000000	0.71417	0.489000	0.27452	0.676000	0.39594	6.350000	0.73017	2.017000	0.59298	0.537000	0.68136	GCC		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		139	346	0	0	0	0	139	346				
C10orf120	399814	broad.mit.edu	37	10	124457725	124457725	+	Missense_Mutation	SNP	C	C	T	rs148798284		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:124457725C>T	ENST00000329446.4	-	3	563	c.532G>A	c.(532-534)Gga>Aga	p.G178R		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	178										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TGATGATTTCCCAGAGCCCGA	0.502																																						uc001lgn.2		NA																	0				kidney(1)	1						c.(532-534)GGA>AGA		hypothetical protein LOC399814							147.0	133.0	138.0					10																	124457725		2203	4300	6503	SO:0001583	missense	399814							g.chr10:124457725C>T		CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.532G>A	10.37:g.124457725C>T	ENSP00000331012:p.Gly178Arg						p.G178R	NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN			3	564	-		all_neural(114;0.169)|Glioma(114;0.222)	178					B2RU17	Missense_Mutation	SNP	ENST00000329446.4	37	c.532G>A	CCDS31302.1	.	.	.	.	.	.	.	.	.	.	C	0.170	-1.071996	0.01918	.	.	ENSG00000183559	ENST00000329446	T	0.27557	1.66	4.71	-8.46	0.00942	.	1.278170	0.05264	N	0.516357	T	0.07098	0.0180	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28299	-1.0048	10	0.08179	T	0.78	-0.6581	7.5575	0.27833	0.0:0.3933:0.3629:0.2438	.	178	Q5SQS8	CJ120_HUMAN	R	178	ENSP00000331012:G178R	ENSP00000331012:G178R	G	-	1	0	C10orf120	124447715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.076000	0.03420	-1.867000	0.01144	-0.924000	0.02725	GGA		0.502	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050803.1	NM_001010912		35	85	0	0	0	0	35	85				
C10orf88	80007	broad.mit.edu	37	10	124708266	124708266	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:124708266T>A	ENST00000481909.1	-	4	771	c.547A>T	c.(547-549)Agg>Tgg	p.R183W	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	183										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		AGGTCTATCCTTGATCCTAGA	0.458																																						uc001lgw.2		NA																	0					0						c.(547-549)AGG>TGG		hypothetical protein LOC80007							122.0	112.0	115.0					10																	124708266		2203	4300	6503	SO:0001583	missense	80007							g.chr10:124708266T>A	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.547A>T	10.37:g.124708266T>A	ENSP00000419126:p.Arg183Trp					C10orf88_uc001lgx.2_Missense_Mutation_p.R85W	p.R183W	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	4	772	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	183					Q0P6C6|Q8N597	Missense_Mutation	SNP	ENST00000481909.1	37	c.547A>T	CCDS7632.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581866	0.65992	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.33	3.16	0.36331	.	0.215793	0.40064	U	0.001187	T	0.62877	0.2464	M	0.77616	2.38	0.29953	N	0.820108	D	0.89917	1.0	D	0.91635	0.999	T	0.60944	-0.7162	9	0.72032	D	0.01	.	4.5466	0.12083	0.0:0.1739:0.1773:0.6488	.	183	Q9H8K7	CJ088_HUMAN	W	183	.	ENSP00000419126:R183W	R	-	1	2	C10orf88	124698256	0.987000	0.35691	0.991000	0.47740	0.969000	0.65631	0.884000	0.28214	0.602000	0.29896	0.362000	0.22060	AGG		0.458	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942		28	33	0	0	0	0	28	33				
DOCK1	1793	broad.mit.edu	37	10	129224216	129224216	+	Missense_Mutation	SNP	G	G	A	rs192122020	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:129224216G>A	ENST00000280333.6	+	47	4901	c.4792G>A	c.(4792-4794)Gag>Aag	p.E1598K		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1598	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CGAGAGGATGGAGGCCTGTTT	0.507													g|||	3	0.000599042	0.0015	0.0014	5008	,	,		21764	0.0		0.0	False		,,,				2504	0.0					uc001ljt.2		NA																	0				central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1)	9						c.(4792-4794)GAG>AAG		dedicator of cytokinesis 1			LYS/GLU	14,3950		1,12,1969	195.0	195.0	195.0		4747	5.0	1.0	10		195	0,8320		0,0,4160	yes	missense	DOCK1	NM_001380.3	56	1,12,6129	AA,AG,GG		0.0,0.3532,0.114	possibly-damaging	1583/1851	129224216	14,12270	1982	4160	6142	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:129224216G>A	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4792G>A	10.37:g.129224216G>A	ENSP00000280333:p.Glu1598Lys					DOCK1_uc010qun.1_Missense_Mutation_p.E1619K|DOCK1_uc009yaq.2_Missense_Mutation_p.E593K	p.E1598K	NM_001380	NP_001371	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	47	4856	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	1598			DHR-2.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.4792G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	21.6	4.178035	0.78564	0.003532	0.0	ENSG00000150760	ENST00000280333	T	0.19806	2.12	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.43700	0.1259	M	0.83603	2.65	0.80722	D	1	B;D;B	0.56968	0.169;0.978;0.08	B;P;B	0.53490	0.184;0.727;0.042	T	0.46707	-0.9172	10	0.48119	T	0.1	.	18.4785	0.90802	0.0:0.0:1.0:0.0	.	1598;1664;1598	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	K	1598	ENSP00000280333:E1598K	ENSP00000280333:E1598K	E	+	1	0	DOCK1	129114206	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.543000	0.60684	2.589000	0.87451	0.450000	0.29827	GAG		0.507	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		71	152	0	0	0	0	71	152				
PHRF1	57661	broad.mit.edu	37	11	608998	608998	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:608998G>T	ENST00000264555.5	+	14	3670	c.3542G>T	c.(3541-3543)cGt>cTt	p.R1181L	PHRF1_ENST00000416188.2_Missense_Mutation_p.R1180L|PHRF1_ENST00000533464.1_Missense_Mutation_p.R1177L|PHRF1_ENST00000413872.2_Missense_Mutation_p.R1179L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1181	Arg-rich.				mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCTCGGTCCCGTGAGAAGTGG	0.706																																						uc001lqe.2		NA																	0					0						c.(3541-3543)CGT>CTT		PHD and ring finger domains 1							7.0	9.0	9.0					11																	608998		2077	4169	6246	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:608998G>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3542G>T	11.37:g.608998G>T	ENSP00000264555:p.Arg1181Leu					PHRF1_uc010qwc.1_Missense_Mutation_p.R1180L|PHRF1_uc010qwd.1_Missense_Mutation_p.R1179L|PHRF1_uc010qwe.1_Missense_Mutation_p.R1177L|PHRF1_uc009ybz.1_Missense_Mutation_p.R971L|PHRF1_uc009yca.1_RNA	p.R1181L	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	3673	+			1181			Arg-rich.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3542G>T		.	.	.	.	.	.	.	.	.	.	G	10.66	1.413680	0.25465	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.19	0.0918	0.14469	.	2.028990	0.02544	N	0.094885	T	0.22437	0.0541	L	0.27053	0.805	0.09310	N	1	P;P;P;P	0.47191	0.826;0.891;0.891;0.826	B;P;P;B	0.46339	0.315;0.513;0.513;0.315	T	0.36648	-0.9739	10	0.62326	D	0.03	-1.9303	10.0174	0.42022	0.439:0.0:0.561:0.0	.	1177;1179;1180;1181	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	L	1181;1179;1180;1177	ENSP00000264555:R1181L;ENSP00000388589:R1179L;ENSP00000410626:R1180L;ENSP00000431870:R1177L	ENSP00000264555:R1181L	R	+	2	0	PHRF1	598998	0.090000	0.21635	0.031000	0.17742	0.036000	0.12997	0.993000	0.29680	-0.285000	0.09089	0.462000	0.41574	CGT		0.706	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	13	1	0	0.00024832	0.000374451	4	13				
MUC6	4588	broad.mit.edu	37	11	1017714	1017714	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:1017714G>T	ENST00000421673.2	-	31	5137	c.5087C>A	c.(5086-5088)tCa>tAa	p.S1696*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1696	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAAGTGTGTGAATGTAGGGA	0.557																																						uc001lsw.2		NA																	0				ovary(1)	1						c.(5086-5088)TCA>TAA		mucin 6, gastric							848.0	826.0	833.0					11																	1017714		2201	4294	6495	SO:0001587	stop_gained	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1017714G>T	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5087C>A	11.37:g.1017714G>T	ENSP00000406861:p.Ser1696*						p.S1696*	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5138	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1696			Thr-rich.|1; truncated.|Approximate repeats.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Nonsense_Mutation	SNP	ENST00000421673.2	37	c.5087C>A	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	41	8.593609	0.98877	.	.	ENSG00000184956	ENST00000421673	.	.	.	1.68	1.68	0.24146	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	6.8596	0.24060	0.0:0.0:1.0:0.0	.	.	.	.	X	1696	.	ENSP00000406861:S1696X	S	-	2	0	MUC6	1007714	0.184000	0.23200	0.001000	0.08648	0.008000	0.06430	2.277000	0.43417	1.264000	0.44198	0.281000	0.19383	TCA		0.557	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		61	736	1	0	1.44e-28	3.02e-28	61	736				
TSPAN32	10077	broad.mit.edu	37	11	2335755	2335755	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:2335755G>C	ENST00000182290.4	+	6	634	c.497G>C	c.(496-498)gGg>gCg	p.G166A	TSPAN32_ENST00000381121.3_Missense_Mutation_p.G166A|TSPAN32_ENST00000451520.2_Missense_Mutation_p.G155A|TSPAN32_ENST00000483227.1_3'UTR	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	166					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGCCGTCTGGGGAGCACAGAG	0.647																																						uc001lvy.1		NA																	0				central_nervous_system(1)	1						c.(496-498)GGG>GCG		tumor-suppressing subtransferable candidate 6							82.0	58.0	66.0					11																	2335755		2202	4299	6501	SO:0001583	missense	10077				cell-cell signaling	integral to membrane		g.chr11:2335755G>C	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.497G>C	11.37:g.2335755G>C	ENSP00000182290:p.Gly166Ala					TSPAN32_uc001lvx.1_Silent_p.G209G|TSPAN32_uc009ydk.1_Missense_Mutation_p.G176A|TSPAN32_uc010qxk.1_Missense_Mutation_p.G201A|TSPAN32_uc009ydl.1_RNA|TSPAN32_uc001lvz.1_Missense_Mutation_p.G136A|TSPAN32_uc001lwb.1_Missense_Mutation_p.G136A|TSPAN32_uc001lwc.1_Missense_Mutation_p.G111A|TSPAN32_uc001lwd.1_5'Flank	p.G166A	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	6	634	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	166					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	c.497G>C	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	G	6.002	0.368866	0.11352	.	.	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000444307;ENST00000381117	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	3.57	-0.964	0.10326	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.552219	0.14457	N	0.318460	T	0.70979	0.3286	L	0.41710	1.295	0.09310	N	1	B;D;P;B;P	0.65815	0.238;0.995;0.539;0.208;0.594	B;P;B;B;B	0.60682	0.145;0.878;0.134;0.046;0.127	T	0.61332	-0.7084	10	0.08837	T	0.75	-3.5172	1.0865	0.01654	0.2217:0.1727:0.429:0.1766	.	153;166;111;166;166	B4DQ90;Q96QS1-5;G3XAG6;Q96QS1-3;Q96QS1	.;.;.;.;TSN32_HUMAN	A	166;166;155;102;111	ENSP00000182290:G166A;ENSP00000370513:G166A;ENSP00000405205:G155A;ENSP00000370509:G111A	ENSP00000182290:G166A	G	+	2	0	TSPAN32	2292331	0.000000	0.05858	0.001000	0.08648	0.512000	0.34134	-0.350000	0.07721	-0.475000	0.06852	0.491000	0.48974	GGG		0.647	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024		3	10	0	0	0	0	3	10				
ART1	417	broad.mit.edu	37	11	3681167	3681167	+	Missense_Mutation	SNP	C	C	A	rs537517512		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:3681167C>A	ENST00000250693.1	+	3	519	c.418C>A	c.(418-420)Cgc>Agc	p.R140S		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	140					innate immune response (GO:0045087)|protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)		TGAGGCGGGCCGCTCCCGGGC	0.667																																						uc001lye.1		NA																	0					0						c.(418-420)CGC>AGC		ADP-ribosyltransferase 1 precursor	Becaplermin(DB00102)						37.0	40.0	39.0					11																	3681167		2201	4298	6499	SO:0001583	missense	417				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr11:3681167C>A	S74683	CCDS7744.1	11p15	2006-02-23			ENSG00000129744	ENSG00000129744		"""CD molecules"""	723	protein-coding gene	gene with protein product		601625				8812442	Standard	NM_004314		Approved	ART2, CD296	uc001lye.1	P52961	OTTHUMG00000011845	ENST00000250693.1:c.418C>A	11.37:g.3681167C>A	ENSP00000250693:p.Arg140Ser					ART1_uc009yeb.1_Missense_Mutation_p.R140S	p.R140S	NM_004314	NP_004305	P52961	NAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	3	519	+		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	140					Q6NTD2|Q96KT9	Missense_Mutation	SNP	ENST00000250693.1	37	c.418C>A	CCDS7744.1	.	.	.	.	.	.	.	.	.	.	C	9.499	1.102696	0.20632	.	.	ENSG00000129744	ENST00000250693	T	0.09911	2.93	5.53	4.59	0.56863	.	0.357151	0.31061	N	0.008323	T	0.12433	0.0302	L	0.59967	1.855	0.32243	N	0.572381	B	0.25235	0.121	B	0.21151	0.033	T	0.03103	-1.1072	9	.	.	.	.	13.5999	0.62013	0.1551:0.8448:0.0:0.0	.	140	P52961	NAR1_HUMAN	S	140	ENSP00000250693:R140S	.	R	+	1	0	ART1	3637743	0.000000	0.05858	0.977000	0.42913	0.391000	0.30476	0.247000	0.18179	2.603000	0.88011	0.467000	0.42956	CGC		0.667	ART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032765.1	NM_004314		24	40	1	0	2.4e-15	4.64e-15	24	40				
OR52I2	143502	broad.mit.edu	37	11	4608507	4608507	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:4608507C>T	ENST00000312614.4	+	1	487	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	155						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTATGTAGCCATCTGCAAGC	0.488																																						uc010qyh.1		NA																	0				pancreas(1)	1						c.(463-465)GCC>GCT		olfactory receptor, family 52, subfamily I,							45.0	46.0	45.0					11																	4608507		2201	4295	6496	SO:0001819	synonymous_variant	143502				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4608507C>T	BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.465C>T	11.37:g.4608507C>T							p.A155A	NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	465	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	155			Cytoplasmic (Potential).		B2RNJ5|B9EKV8|Q6IFJ8	Silent	SNP	ENST00000312614.4	37	c.465C>T	CCDS31355.1																																																																																				0.488	OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170		7	76	0	0	0	0	7	76				
OR52I1	390037	broad.mit.edu	37	11	4615655	4615655	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:4615655C>T	ENST00000530443.2	+	1	387	c.387C>T	c.(385-387)gcC>gcT	p.A129A	OR52I1_ENST00000450052.2_Silent_p.A153A	NM_001005169.1	NP_001005169.1	Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	129						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(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTATGTAGCCATCTGCAAGC	0.498																																						uc010qyi.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(385-387)GCC>GCT		olfactory receptor, family 52, subfamily I,							53.0	48.0	50.0					11																	4615655		2201	4295	6496	SO:0001819	synonymous_variant	390037				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4615655C>T	BK004371	CCDS59223.1	11p15.4	2012-08-09				ENSG00000232268		"""GPCR / Class A : Olfactory receptors"""	15220	protein-coding gene	gene with protein product							Standard	NM_001005169		Approved		uc010qyi.2	Q8NGK6		ENST00000530443.2:c.387C>T	11.37:g.4615655C>T							p.A129A	NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	387	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	129			Cytoplasmic (Potential).		Q6IF91	Silent	SNP	ENST00000530443.2	37	c.387C>T	CCDS59223.1																																																																																				0.498	OR52I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385947.2	NM_001005169		17	34	0	0	0	0	17	34				
OR51V1	283111	broad.mit.edu	37	11	5221348	5221348	+	Missense_Mutation	SNP	G	G	A	rs151191536		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:5221348G>A	ENST00000321255.1	-	1	582	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	195					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGCTAAGCGGAGAAGATCC	0.398																																						uc010qyz.1		NA																	0				skin(1)	1						c.(583-585)CGC>TGC		olfactory receptor, family 51, subfamily V,		G	CYS/ARG	0,4402		0,0,2201	53.0	52.0	52.0		583	-2.7	0.0	11	dbSNP_134	52	1,8593		0,1,4296	no	missense	OR51V1	NM_001004760.2	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	195/322	5221348	1,12995	2201	4297	6498	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221348G>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.583C>T	11.37:g.5221348G>A	ENSP00000321729:p.Arg195Cys						p.R195C	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	583	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	195			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.583C>T	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410233	0.25465	0.0	1.16E-4	ENSG00000176742	ENST00000321255	T	0.38240	1.15	5.27	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.379029	0.17166	N	0.184450	T	0.62295	0.2416	H	0.94423	3.535	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.54139	-0.8338	10	0.72032	D	0.01	.	8.0072	0.30332	0.1393:0.0:0.2282:0.6325	.	195	Q9H2C8	O51V1_HUMAN	C	195	ENSP00000321729:R195C	ENSP00000321729:R195C	R	-	1	0	OR51V1	5177924	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.168000	0.09925	-0.284000	0.09102	0.655000	0.94253	CGC		0.398	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		11	39	0	0	0	0	11	39				
OR51Q1	390061	broad.mit.edu	37	11	5443437	5443437	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:5443437C>A	ENST00000300778.4	+	1	97	c.7C>A	c.(7-9)Cag>Aag	p.Q3K	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCATGTCCCAGGTGACTAA	0.448																																						uc010qzd.1		NA																	0				ovary(1)	1						c.(7-9)CAG>AAG		olfactory receptor, family 51, subfamily Q,							181.0	138.0	153.0					11																	5443437		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443437C>A	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.7C>A	11.37:g.5443437C>A	ENSP00000300778:p.Gln3Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.Q3K	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	7	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	3			Extracellular (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.7C>A	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	C	0.390	-0.924179	0.02377	.	.	ENSG00000167360	ENST00000300778	T	0.00002	9.85	5.0	-1.27	0.09347	.	2.375910	0.01778	N	0.031583	T	0.00039	0.0001	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.03534	-1.1027	10	0.26408	T	0.33	.	6.6583	0.23000	0.3202:0.4428:0.2369:0.0	.	3	Q8NH59	O51Q1_HUMAN	K	3	ENSP00000300778:Q3K	ENSP00000300778:Q3K	Q	+	1	0	OR51Q1	5400013	0.000000	0.05858	0.007000	0.13788	0.023000	0.10783	-0.595000	0.05727	-0.324000	0.08589	-1.009000	0.02473	CAG		0.448	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		36	77	1	0	7.11e-15	1.37e-14	36	77				
OR56B1	387748	broad.mit.edu	37	11	5758078	5758078	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:5758078A>G	ENST00000317121.3	+	1	398	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	111						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)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTCAGATTTATGCCATTCAC	0.458																																						uc001mbt.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(331-333)TAT>TGT		olfactory receptor, family 56, subfamily B,							176.0	156.0	163.0					11																	5758078		2201	4297	6498	SO:0001583	missense	387748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5758078A>G	BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.332A>G	11.37:g.5758078A>G	ENSP00000322939:p.Tyr111Cys					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.Y111C|OR56B1_uc009yev.1_Missense_Mutation_p.Y111C	p.Y111C	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)	1	332	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)	111			Helical; Name=3; (Potential).		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	ENST00000317121.3	37	c.332A>G	CCDS31395.1	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006194	0.54361	.	.	ENSG00000181023	ENST00000317121	T	0.00483	7.09	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	U	0.001066	T	0.01124	0.0037	M	0.68952	2.095	0.36060	D	0.841359	D	0.89917	1.0	D	0.72338	0.977	T	0.63229	-0.6684	10	0.87932	D	0	-10.3091	9.5684	0.39414	0.8436:0.0:0.0:0.1564	.	111	Q8NGI3	O56B1_HUMAN	C	111	ENSP00000322939:Y111C	ENSP00000322939:Y111C	Y	+	2	0	OR56B1	5714654	0.003000	0.15002	0.995000	0.50966	0.952000	0.60782	-0.003000	0.12901	2.260000	0.74910	0.533000	0.62120	TAT		0.458	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143354.1	NM_001005180		9	32	0	0	0	0	9	32				
OR52B2	255725	broad.mit.edu	37	11	6191434	6191434	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:6191434G>T	ENST00000530810.1	-	1	204	c.123C>A	c.(121-123)gtC>gtA	p.V41V	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTTCCCAGGACTGCAGTGA	0.478																																					NSCLC(5;186 261 1778 7098 14207)	uc010qzy.1		NA																	0					0						c.(121-123)GTC>GTA		olfactory receptor, family 52, subfamily B,							143.0	141.0	142.0					11																	6191434		2068	4216	6284	SO:0001819	synonymous_variant	255725				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6191434G>T	AB065763	CCDS53598.1	11p15.4	2012-08-09				ENSG00000255307		"""GPCR / Class A : Olfactory receptors"""	15207	protein-coding gene	gene with protein product							Standard	NM_001004052		Approved		uc010qzy.2	Q96RD2		ENST00000530810.1:c.123C>A	11.37:g.6191434G>T							p.V41V	NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	123	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	41			Helical; Name=1; (Potential).		Q8NGM7	Silent	SNP	ENST00000530810.1	37	c.123C>A	CCDS53598.1																																																																																				0.478	OR52B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385977.1	NM_001004052		22	71	1	0	7.45e-12	1.37e-11	22	71				
SPTY2D1	144108	broad.mit.edu	37	11	18637522	18637522	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:18637522G>T	ENST00000336349.5	-	3	534	c.299C>A	c.(298-300)cCt>cAt	p.P100H	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	100										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TTCCTCAATAGGAATCCCATT	0.433																																						uc001moy.2		NA																	0				breast(1)	1						c.(298-300)CCT>CAT		SPT2, Suppressor of Ty, domain containing 1							196.0	179.0	185.0					11																	18637522		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18637522G>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.299C>A	11.37:g.18637522G>T	ENSP00000337991:p.Pro100His					SPTY2D1_uc010rdi.1_Missense_Mutation_p.P100H	p.P100H	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	515	-			100					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.299C>A	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394004	0.62066	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.35973	1.28	5.49	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.38957	0.1060	M	0.66939	2.045	0.58432	D	0.999996	P	0.48998	0.918	B	0.39660	0.306	T	0.48115	-0.9063	10	0.87932	D	0	-9.6745	15.6736	0.77297	0.0:0.0:0.8617:0.1383	.	100	Q68D10	SPT2_HUMAN	H	100	ENSP00000337991:P100H	ENSP00000331447:P100H	P	-	2	0	SPTY2D1	18594098	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.712000	0.98738	1.290000	0.44636	0.563000	0.77884	CCT		0.433	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		54	87	1	0	1.03e-37	2.2e-37	54	87				
NAV2	89797	broad.mit.edu	37	11	20065574	20065574	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:20065574T>C	ENST00000396087.3	+	14	3123	c.3024T>C	c.(3022-3024)tcT>tcC	p.S1008S	NAV2_ENST00000540292.1_Silent_p.S939S|NAV2_ENST00000360655.4_Silent_p.S921S|NAV2_ENST00000527559.2_Silent_p.S937S|NAV2_ENST00000349880.4_Silent_p.S985S|NAV2_ENST00000396085.1_Silent_p.S985S|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Silent_p.S71S|NAV2_ENST00000533917.1_Silent_p.S71S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1008					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCCTGTGGTCTGGTGATGATG	0.527																																						uc010rdm.1		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(3022-3024)TCT>TCC		neuron navigator 2 isoform 2							97.0	99.0	98.0					11																	20065574		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20065574T>C	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.3024T>C	11.37:g.20065574T>C						NAV2_uc001mpp.2_Silent_p.S921S|NAV2_uc001mpr.3_Silent_p.S985S|NAV2_uc001mpt.2_Silent_p.S71S|NAV2_uc009yhx.2_Silent_p.S71S|NAV2_uc009yhy.1_5'UTR	p.S1008S	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			14	3385	+			1008					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.3024T>C	CCDS58126.1																																																																																				0.527	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		24	64	0	0	0	0	24	64				
NAV2	89797	broad.mit.edu	37	11	20066745	20066746	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:20066745_20066746GC>TT	ENST00000396087.3	+	15	3599_3600	c.3500_3501GC>TT	c.(3499-3501)aGC>aTT	p.S1167I	NAV2_ENST00000540292.1_Missense_Mutation_p.S1098I|NAV2_ENST00000360655.4_Missense_Mutation_p.S1080I|NAV2_ENST00000527559.2_Missense_Mutation_p.S1096I|NAV2_ENST00000349880.4_Missense_Mutation_p.S1144I|NAV2_ENST00000396085.1_Missense_Mutation_p.S1144I|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000311043.8_Missense_Mutation_p.S230I|NAV2_ENST00000533917.1_Missense_Mutation_p.S230I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1167					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACTGTCACCAGCAGGTCAGCCA	0.574																																						uc010rdm.1		NA																	0				skin(4)|ovary(1)|pancreas(1)	6						c.(3499-3501)AGC>ATT		neuron navigator 2 isoform 2																																				SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20066745_20066746GC>TT	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	Exception_encountered	11.37:g.20066745_20066746delinsTT	ENSP00000379396:p.Ser1167Ile					NAV2_uc001mpp.2_Missense_Mutation_p.S1080I|NAV2_uc001mpr.3_Missense_Mutation_p.S1144I|NAV2_uc001mpt.2_Missense_Mutation_p.S230I|NAV2_uc009yhx.2_Missense_Mutation_p.S230I|NAV2_uc009yhy.1_Missense_Mutation_p.S143I	p.S1167I	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			15	3861_3862	+			1167					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	DNP	ENST00000396087.3	37	c.3500_3501GC>TT	CCDS58126.1																																																																																				0.574	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		19	79	0	0	0	0	19	79				
SLC6A5	9152	broad.mit.edu	37	11	20623176	20623176	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:20623176G>T	ENST00000525748.1	+	2	778	c.505G>T	c.(505-507)Gtg>Ttg	p.V169L		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	169					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V169M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATCACGTCCGTGCTCCCGGG	0.652																																						uc001mqd.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|breast(1)|skin(1)	4						c.(505-507)GTG>TTG		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						81.0	71.0	74.0					11																	20623176		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20623176G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.505G>T	11.37:g.20623176G>T	ENSP00000434364:p.Val169Leu					SLC6A5_uc009yic.2_5'UTR	p.V169L	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			2	778	+			169			Cytoplasmic (Potential).		O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.505G>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852227	0.91355	.	.	ENSG00000165970	ENST00000525748	T	0.73152	-0.72	5.44	5.44	0.79542	.	1.025170	0.07761	N	0.950105	T	0.71056	0.3295	L	0.32530	0.975	0.80722	D	1	D	0.53151	0.958	P	0.46479	0.518	T	0.69774	-0.5054	10	0.87932	D	0	.	17.8384	0.88707	0.0:0.0:1.0:0.0	.	169	Q9Y345	SC6A5_HUMAN	L	169	ENSP00000434364:V169L	ENSP00000298923:V169L	V	+	1	0	SLC6A5	20579752	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	9.191000	0.94940	2.553000	0.86117	0.455000	0.32223	GTG		0.652	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		12	31	1	0	6.4e-05	9.89e-05	12	31				
SLC17A6	57084	broad.mit.edu	37	11	22364872	22364872	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:22364872T>G	ENST00000263160.3	+	3	856	c.419T>G	c.(418-420)aTt>aGt	p.I140S		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	140					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ATCACTCAGATTCCGGGAGGC	0.577																																						uc001mqk.2		NA																	0				ovary(3)|breast(1)	4						c.(418-420)ATT>AGT		solute carrier family 17 (sodium-dependent							78.0	81.0	80.0					11																	22364872		2203	4300	6503	SO:0001583	missense	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22364872T>G	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.419T>G	11.37:g.22364872T>G	ENSP00000263160:p.Ile140Ser						p.I140S	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			3	832	+			140			Helical; (Potential).		A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	37	c.419T>G	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	T	26.8	4.767806	0.90020	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.58797	0.31	5.1	5.1	0.69264	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.047336	0.85682	D	0.000000	D	0.82332	0.5014	H	0.95365	3.66	0.80722	D	1	D	0.56521	0.976	D	0.69654	0.965	D	0.87969	0.2735	10	0.87932	D	0	.	15.1866	0.73006	0.0:0.0:0.0:1.0	.	140	Q9P2U8	VGLU2_HUMAN	S	140;28	ENSP00000263160:I140S	ENSP00000263160:I140S	I	+	2	0	SLC17A6	22321448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.611000	0.82962	2.036000	0.60181	0.533000	0.62120	ATT		0.577	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		28	65	0	0	0	0	28	65				
KCNA4	3739	broad.mit.edu	37	11	30033418	30033418	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:30033418G>A	ENST00000328224.6	-	2	2041	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	270					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TCGTCCTCCCGAAACTTCAAC	0.512																																						uc001msk.2		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(808-810)CGG>TGG		potassium voltage-gated channel, shaker-related							68.0	62.0	64.0					11																	30033418		1877	4131	6008	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033418G>A	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.808C>T	11.37:g.30033418G>A	ENSP00000328511:p.Arg270Trp						p.R270W	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1960	-			270						Missense_Mutation	SNP	ENST00000328224.6	37	c.808C>T	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.657912	0.67586	.	.	ENSG00000182255	ENST00000328224	T	0.77098	-1.07	5.05	5.05	0.67936	BTB/POZ-like (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.80226	0.4584	M	0.81112	2.525	0.80722	D	1	P	0.46457	0.878	B	0.43867	0.434	D	0.83584	0.0119	10	0.62326	D	0.03	.	13.3409	0.60545	0.0:0.0:0.8015:0.1985	.	270	P22459	KCNA4_HUMAN	W	270	ENSP00000328511:R270W	ENSP00000328511:R270W	R	-	1	2	KCNA4	29989994	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	4.106000	0.57804	2.355000	0.79922	0.655000	0.94253	CGG		0.512	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		22	59	0	0	0	0	22	59				
CKAP5	9793	broad.mit.edu	37	11	46822845	46822845	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:46822845T>C	ENST00000529230.1	-	9	1034	c.988A>G	c.(988-990)Aag>Gag	p.K330E	CKAP5_ENST00000415402.1_Missense_Mutation_p.K330E|CKAP5_ENST00000354558.3_Missense_Mutation_p.K330E|CKAP5_ENST00000312055.5_Missense_Mutation_p.K330E|CKAP5_ENST00000532321.1_5'UTR			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	330					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGGTGTCCTTTCCAACAACC	0.428																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(988-990)AAG>GAG		colonic and hepatic tumor over-expressed protein							96.0	89.0	91.0					11																	46822845		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46822845T>C		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.988A>G	11.37:g.46822845T>C	ENSP00000432768:p.Lys330Glu					CKAP5_uc009ylg.1_Missense_Mutation_p.K216E|CKAP5_uc001ndj.1_Missense_Mutation_p.K330E	p.K330E	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			9	1098	-			330					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.988A>G	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	T	33	5.233665	0.95207	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	M	0.85197	2.74	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.975	D;D;P	0.70227	0.968;0.968;0.778	T	0.74719	-0.3570	10	0.48119	T	0.1	-13.3256	16.3275	0.82990	0.0:0.0:0.0:1.0	.	330;330;330	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	E	330	ENSP00000432768:K330E;ENSP00000395302:K330E;ENSP00000310227:K330E;ENSP00000346566:K330E	ENSP00000310227:K330E	K	-	1	0	CKAP5	46779421	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.977000	0.88081	2.266000	0.75297	0.528000	0.53228	AAG		0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		16	33	0	0	0	0	16	33				
OR4A16	81327	broad.mit.edu	37	11	55110887	55110887	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55110887T>C	ENST00000314721.2	+	1	261	c.211T>C	c.(211-213)Tat>Cat	p.Y71H		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGATGCCATATATTCCACTGC	0.453																																						uc010rie.1		NA																	0				large_intestine(2)|pancreas(1)	3						c.(211-213)TAT>CAT		olfactory receptor, family 4, subfamily A,							194.0	178.0	183.0					11																	55110887		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110887T>C	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.211T>C	11.37:g.55110887T>C	ENSP00000325128:p.Tyr71His						p.Y71H	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	211	+			71			Helical; Name=2; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.211T>C	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	t	3.605	-0.080741	0.07141	.	.	ENSG00000181961	ENST00000314721	T	0.04706	3.57	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11836	0.0288	M	0.86502	2.82	0.09310	N	1	B	0.26602	0.154	B	0.33890	0.172	T	0.09662	-1.0664	9	0.72032	D	0.01	.	8.6087	0.33789	0.0:0.0:0.0:1.0	.	71	Q8NH70	O4A16_HUMAN	H	71	ENSP00000325128:Y71H	ENSP00000325128:Y71H	Y	+	1	0	OR4A16	54867463	0.000000	0.05858	0.334000	0.25495	0.012000	0.07955	0.554000	0.23407	1.186000	0.42985	0.346000	0.21813	TAT		0.453	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		44	111	0	0	0	0	44	111				
OR4C15	81309	broad.mit.edu	37	11	55322574	55322574	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55322574C>T	ENST00000314644.2	+	1	792	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	210						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(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCATAAACTTCTCCTTGTTGC	0.483										HNSCC(20;0.049)																												uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(790-792)TTC>TTT		olfactory receptor, family 4, subfamily C,							207.0	149.0	169.0					11																	55322574		2201	4296	6497	SO:0001819	synonymous_variant	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322574C>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.792C>T	11.37:g.55322574C>T		HNSCC(20;0.049)					p.F264F	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	792	+			210			Helical; Name=5; (Potential).		Q6IFE2	Silent	SNP	ENST00000314644.2	37	c.792C>T	CCDS31501.1																																																																																				0.483	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		28	89	0	0	0	0	28	89				
OR4S2	219431	broad.mit.edu	37	11	55419304	55419304	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55419304A>G	ENST00000312422.2	+	1	925	c.925A>G	c.(925-927)Aaa>Gaa	p.K309E		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	309						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(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CTTGGAGGCTAAAGGGAAATA	0.363																																						uc001nhs.1		NA																	0				skin(2)|ovary(1)	3						c.(925-927)AAA>GAA		olfactory receptor, family 4, subfamily S,							83.0	81.0	82.0					11																	55419304		2173	4008	6181	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419304A>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.925A>G	11.37:g.55419304A>G	ENSP00000310337:p.Lys309Glu						p.K309E	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	925	+		all_epithelial(135;0.0748)	309			Cytoplasmic (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.925A>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	A	9.452	1.090838	0.20471	.	.	ENSG00000174982	ENST00000312422	T	0.08102	3.13	4.44	2.01	0.26516	.	1.508680	0.04390	N	0.362298	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14578	0.011	T	0.39333	-0.9619	10	0.49607	T	0.09	.	1.5884	0.02649	0.5533:0.178:0.097:0.1717	.	309	Q8NH73	OR4S2_HUMAN	E	309	ENSP00000310337:K309E	ENSP00000310337:K309E	K	+	1	0	OR4S2	55175880	0.278000	0.24230	0.001000	0.08648	0.052000	0.14988	1.307000	0.33516	0.296000	0.22592	-0.538000	0.04264	AAA		0.363	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		49	119	0	0	0	0	49	119				
OR4C6	219432	broad.mit.edu	37	11	55433323	55433323	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55433323C>A	ENST00000314259.3	+	1	710	c.681C>A	c.(679-681)agC>agA	p.S227R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AGTCTTACAGCTCTAAAGGGC	0.498																																						uc001nht.3		NA																	0				skin(2)	2						c.(679-681)AGC>AGA		olfactory receptor, family 4, subfamily C,							133.0	125.0	128.0					11																	55433323		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433323C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.681C>A	11.37:g.55433323C>A	ENSP00000324769:p.Ser227Arg					OR4C6_uc010rik.1_Missense_Mutation_p.S227R	p.S227R	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	946	+			227			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.681C>A	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	C	4.944	0.175421	0.09391	.	.	ENSG00000181903	ENST00000314259	T	0.00327	8.09	4.07	-5.18	0.02840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000353	T	0.00144	0.0004	N	0.11154	0.105	0.09310	N	1	B	0.21309	0.054	B	0.33254	0.16	T	0.45848	-0.9233	10	0.87932	D	0	.	7.0615	0.25129	0.1218:0.2724:0.0:0.6058	.	227	Q8NH72	OR4C6_HUMAN	R	227	ENSP00000324769:S227R	ENSP00000324769:S227R	S	+	3	2	OR4C6	55189899	0.000000	0.05858	0.007000	0.13788	0.123000	0.20343	-3.927000	0.00332	-0.604000	0.05760	0.543000	0.68304	AGC		0.498	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		37	99	1	0	4.11e-13	7.7e-13	37	99				
OR4C6	219432	broad.mit.edu	37	11	55433552	55433552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55433552G>T	ENST00000314259.3	+	1	939	c.910G>T	c.(910-912)Gag>Tag	p.E304*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATGAAATGGGAGGCTTTGGC	0.408																																						uc001nht.3		NA																	0				skin(2)	2						c.(910-912)GAG>TAG		olfactory receptor, family 4, subfamily C,							74.0	75.0	75.0					11																	55433552		2200	4296	6496	SO:0001587	stop_gained	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433552G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.910G>T	11.37:g.55433552G>T	ENSP00000324769:p.Glu304*					OR4C6_uc010rik.1_Nonsense_Mutation_p.E304*	p.E304*	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	1175	+			304			Cytoplasmic (Potential).		B2RP11|Q6IFD2	Nonsense_Mutation	SNP	ENST00000314259.3	37	c.910G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.495393	0.26774	.	.	ENSG00000181903	ENST00000314259	.	.	.	4.0	-0.655	0.11439	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	3.1216	0.06393	0.3472:0.0:0.4628:0.1899	.	.	.	.	X	304	.	ENSP00000324769:E304X	E	+	1	0	OR4C6	55190128	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-1.611000	0.02062	0.211000	0.20683	0.530000	0.56133	GAG		0.408	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		7	36	1	0	1.07e-07	1.81e-07	7	36				
OR5D16	390144	broad.mit.edu	37	11	55606250	55606250	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55606250C>A	ENST00000378396.1	+	1	23	c.23C>A	c.(22-24)aCg>aAg	p.T8K		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GAGAGAAATACGACATCTGAG	0.413																																						uc010rio.1		NA																	0				ovary(4)|skin(1)	5						c.(22-24)ACG>AAG		olfactory receptor, family 5, subfamily D,							87.0	80.0	82.0					11																	55606250		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606250C>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.23C>A	11.37:g.55606250C>A	ENSP00000367649:p.Thr8Lys						p.T8K	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	23	+		all_epithelial(135;0.208)	8			Extracellular (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.23C>A	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	1.300	-0.605285	0.03717	.	.	ENSG00000205029	ENST00000378396	T	0.00561	6.59	3.76	-7.51	0.01346	.	.	.	.	.	T	0.00241	0.0007	N	0.11364	0.135	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43426	-0.9392	9	0.29301	T	0.29	-0.0335	0.1512	0.00093	0.3006:0.2479:0.1997:0.2518	.	8	Q8NGK9	OR5DG_HUMAN	K	8	ENSP00000367649:T8K	ENSP00000367649:T8K	T	+	2	0	OR5D16	55362826	0.000000	0.05858	0.003000	0.11579	0.272000	0.26649	-3.701000	0.00389	-1.176000	0.02747	-1.712000	0.00714	ACG		0.413	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		22	42	1	0	1.37e-18	2.75e-18	22	42				
OR5D16	390144	broad.mit.edu	37	11	55607036	55607036	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55607036G>T	ENST00000378396.1	+	1	809	c.809G>T	c.(808-810)aGg>aTg	p.R270M		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAAAACTCCAGGCACACAGTC	0.493																																						uc010rio.1		NA																	0				ovary(4)|skin(1)	5						c.(808-810)AGG>ATG		olfactory receptor, family 5, subfamily D,							96.0	89.0	91.0					11																	55607036		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55607036G>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.809G>T	11.37:g.55607036G>T	ENSP00000367649:p.Arg270Met						p.R270M	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	809	+		all_epithelial(135;0.208)	270			Extracellular (Potential).		Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.809G>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	0.408	-0.914769	0.02415	.	.	ENSG00000205029	ENST00000378396	T	0.00145	8.67	4.43	-2.91	0.05631	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.05012	-0.13	0.09310	N	1	B	0.22480	0.07	B	0.31869	0.137	T	0.01920	-1.1247	9	0.09590	T	0.72	-11.5692	4.7516	0.13063	0.3957:0.0:0.4369:0.1674	.	270	Q8NGK9	OR5DG_HUMAN	M	270	ENSP00000367649:R270M	ENSP00000367649:R270M	R	+	2	0	OR5D16	55363612	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-2.546000	0.00932	-0.408000	0.07565	-1.403000	0.01137	AGG		0.493	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		21	67	1	0	3.62e-10	6.48e-10	21	67				
TRIM51	84767	broad.mit.edu	37	11	55653181	55653181	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55653181T>C	ENST00000449290.2	+	2	369	c.277T>C	c.(277-279)Tgt>Cgt	p.C93R	TRIM51_ENST00000244891.3_5'Flank	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	93						intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GGAGCAAATATGTGGGATGCA	0.488																																						uc010rip.1		NA																	0					0						c.(277-279)TGT>CGT		SPRY domain containing 5							11.0	11.0	11.0					11																	55653181		690	1590	2280	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55653181T>C	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.277T>C	11.37:g.55653181T>C	ENSP00000395086:p.Cys93Arg					SPRYD5_uc010riq.1_5'Flank	p.C93R	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			2	369	+		all_epithelial(135;0.226)	93			B box-type.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.277T>C		.	.	.	.	.	.	.	.	.	.	.	9.597	1.127766	0.20959	.	.	ENSG00000124900	ENST00000449290	D	0.99080	-5.4	0.803	0.803	0.18691	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	D	0.99474	0.9813	H	0.98996	4.395	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95848	0.8872	9	0.87932	D	0	.	5.8508	0.18691	0.0:1.0E-4:0.0:0.9999	.	93	Q9BSJ1	SPRY5_HUMAN	R	93	ENSP00000395086:C93R	ENSP00000395086:C93R	C	+	1	0	SPRYD5	55409757	0.169000	0.23002	0.071000	0.20095	0.174000	0.22865	2.219000	0.42899	0.624000	0.30286	0.128000	0.15822	TGT		0.488	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		5	44	0	0	0	0	5	44				
TRIM51	84767	broad.mit.edu	37	11	55658953	55658953	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55658953G>T	ENST00000449290.2	+	7	1296	c.1204G>T	c.(1204-1206)Gtt>Ttt	p.V402F	TRIM51_ENST00000244891.3_Missense_Mutation_p.V259F	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	402	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										GGTGCAATATGTTCCAAGACC	0.458																																						uc010rip.1		NA																	0					0						c.(1204-1206)GTT>TTT		SPRY domain containing 5							45.0	43.0	44.0					11																	55658953		2144	4148	6292	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55658953G>T	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1204G>T	11.37:g.55658953G>T	ENSP00000395086:p.Val402Phe					SPRYD5_uc010riq.1_Missense_Mutation_p.V259F	p.V402F	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN			7	1296	+		all_epithelial(135;0.226)	402			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1204G>T		.	.	.	.	.	.	.	.	.	.	.	11.26	1.586464	0.28268	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.63417	-0.04;-0.04	0.655	-0.651	0.11454	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.72334	0.3447	M	0.73372	2.23	0.09310	N	1	D	0.67145	0.996	D	0.72338	0.977	T	0.60480	-0.7255	8	0.87932	D	0	.	.	.	.	.	402	Q9BSJ1	SPRY5_HUMAN	F	402;259	ENSP00000395086:V402F;ENSP00000244891:V259F	ENSP00000244891:V259F	V	+	1	0	SPRYD5	55415529	0.000000	0.05858	0.002000	0.10522	0.182000	0.23217	-1.027000	0.03592	-0.232000	0.09811	0.162000	0.16502	GTT		0.458	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		23	65	1	0	2.45e-14	4.67e-14	23	65				
OR8H3	390152	broad.mit.edu	37	11	55890065	55890065	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55890065A>G	ENST00000313472.3	+	1	217	c.217A>G	c.(217-219)Agt>Ggt	p.S73G		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TATTGACCTCAGTTACTCAAC	0.443																																						uc001nii.1		NA																	0				ovary(2)	2						c.(217-219)AGT>GGT		olfactory receptor, family 8, subfamily H,							252.0	250.0	251.0					11																	55890065		2201	4293	6494	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890065A>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.217A>G	11.37:g.55890065A>G	ENSP00000323928:p.Ser73Gly						p.S73G	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	217	+	Esophageal squamous(21;0.00693)		73			Helical; Name=2; (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.217A>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	8.390	0.839424	0.16891	.	.	ENSG00000181761	ENST00000313472	T	0.01347	4.99	3.44	-6.19	0.02078	GPCR, rhodopsin-like superfamily (1);	0.421176	0.23038	N	0.052645	T	0.01061	0.0035	N	0.16266	0.395	0.09310	N	1	P	0.49090	0.919	P	0.48488	0.579	T	0.49331	-0.8951	10	0.23891	T	0.37	.	6.4359	0.21823	0.1659:0.0:0.1618:0.6723	.	73	Q8N146	OR8H3_HUMAN	G	73	ENSP00000323928:S73G	ENSP00000323928:S73G	S	+	1	0	OR8H3	55646641	0.000000	0.05858	0.904000	0.35570	0.264000	0.26372	-1.886000	0.01619	-0.555000	0.06142	0.145000	0.16022	AGT		0.443	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		85	224	0	0	0	0	85	224				
OR8H3	390152	broad.mit.edu	37	11	55890212	55890212	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55890212C>G	ENST00000313472.3	+	1	364	c.364C>G	c.(364-366)Cgc>Ggc	p.R122G		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GGCCTATGATCGCTATGCAGC	0.463																																						uc001nii.1		NA																	0				ovary(2)	2						c.(364-366)CGC>GGC		olfactory receptor, family 8, subfamily H,							222.0	209.0	213.0					11																	55890212		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890212C>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.364C>G	11.37:g.55890212C>G	ENSP00000323928:p.Arg122Gly						p.R122G	NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN			1	364	+	Esophageal squamous(21;0.00693)		122			Cytoplasmic (Potential).		Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.364C>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153360	0.38021	.	.	ENSG00000181761	ENST00000313472	T	0.77620	-1.11	3.44	1.36	0.22044	GPCR, rhodopsin-like superfamily (1);	0.249486	0.28889	N	0.013810	D	0.89185	0.6643	H	0.94183	3.505	0.30064	N	0.810616	D	0.71674	0.998	D	0.65140	0.932	D	0.86605	0.1869	10	0.87932	D	0	.	11.9815	0.53123	0.2683:0.7317:0.0:0.0	.	122	Q8N146	OR8H3_HUMAN	G	122	ENSP00000323928:R122G	ENSP00000323928:R122G	R	+	1	0	OR8H3	55646788	0.230000	0.23740	0.709000	0.30452	0.393000	0.30537	0.774000	0.26675	0.047000	0.15862	0.173000	0.16961	CGC		0.463	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		56	159	0	0	0	0	56	159				
OR5J2	282775	broad.mit.edu	37	11	55944846	55944846	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55944846C>A	ENST00000312298.1	+	1	753	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGACCATATTCTATGGTACCT	0.453																																						uc010rjb.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4						c.(751-753)TTC>TTA		olfactory receptor, family 5, subfamily J,							129.0	123.0	125.0					11																	55944846		2201	4296	6497	SO:0001583	missense	282775				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55944846C>A	AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.753C>A	11.37:g.55944846C>A	ENSP00000310788:p.Phe251Leu						p.F251L	NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN			1	753	+	Esophageal squamous(21;0.00693)		251			Helical; Name=6; (Potential).		Q6IEU5	Missense_Mutation	SNP	ENST00000312298.1	37	c.753C>A	CCDS31522.1	.	.	.	.	.	.	.	.	.	.	C	7.524	0.657298	0.14580	.	.	ENSG00000174957	ENST00000312298	T	0.00285	8.3	4.26	-0.586	0.11694	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000018	T	0.00271	0.0008	M	0.79123	2.44	0.35897	D	0.830115	B	0.25105	0.118	B	0.31614	0.133	T	0.57412	-0.7816	10	0.48119	T	0.1	.	8.8773	0.35354	0.0:0.4621:0.0:0.5379	.	251	Q8NH18	OR5J2_HUMAN	L	251	ENSP00000310788:F251L	ENSP00000310788:F251L	F	+	3	2	OR5J2	55701422	0.032000	0.19561	0.261000	0.24466	0.005000	0.04900	-0.425000	0.07017	-0.362000	0.08113	-0.214000	0.12660	TTC		0.453	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1	NM_001005492		34	92	1	0	2.68e-12	4.94e-12	34	92				
OR5T2	219464	broad.mit.edu	37	11	55999944	55999944	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:55999944A>T	ENST00000313264.4	-	1	793	c.718T>A	c.(718-720)Tac>Aac	p.Y240N		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					CCCACAAAGTAGAAGAGTAGA	0.438																																						uc010rjc.1		NA																	0				ovary(2)	2						c.(718-720)TAC>AAC		olfactory receptor, family 5, subfamily T,							121.0	114.0	116.0					11																	55999944		2201	4296	6497	SO:0001583	missense	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55999944A>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.718T>A	11.37:g.55999944A>T	ENSP00000323688:p.Tyr240Asn						p.Y240N	NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN			1	718	-	Esophageal squamous(21;0.00448)		240			Helical; Name=5; (Potential).		B9EGX5|Q6IFC8	Missense_Mutation	SNP	ENST00000313264.4	37	c.718T>A	CCDS31523.1	.	.	.	.	.	.	.	.	.	.	A	4.223	0.040313	0.08148	.	.	ENSG00000181718	ENST00000313264	T	0.00091	8.74	5.07	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.562565	0.13127	U	0.411750	T	0.00109	0.0003	N	0.13168	0.305	0.09310	N	1	B	0.18610	0.029	B	0.28305	0.088	T	0.06075	-1.0847	10	0.34782	T	0.22	.	4.6994	0.12820	0.695:0.0:0.1639:0.1411	.	240	Q8NGG2	OR5T2_HUMAN	N	240	ENSP00000323688:Y240N	ENSP00000323688:Y240N	Y	-	1	0	OR5T2	55756520	0.000000	0.05858	0.103000	0.21229	0.178000	0.23041	-0.119000	0.10676	0.840000	0.34995	0.391000	0.25812	TAC		0.438	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		35	100	0	0	0	0	35	100				
OR8K3	219473	broad.mit.edu	37	11	56085963	56085963	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56085963T>C	ENST00000312711.1	+	1	181	c.181T>C	c.(181-183)Ttt>Ctt	p.F61L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	61						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(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CCCTATGTACTTTTTTCTCAG	0.383																																						uc010rjf.1		NA																	0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(181-183)TTT>CTT		olfactory receptor, family 8, subfamily K,							183.0	182.0	183.0					11																	56085963		2201	4296	6497	SO:0001583	missense	219473				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56085963T>C	AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.181T>C	11.37:g.56085963T>C	ENSP00000323555:p.Phe61Leu						p.F61L	NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN			1	181	+	Esophageal squamous(21;0.00448)		61			Helical; Name=2; (Potential).		Q6IFC4	Missense_Mutation	SNP	ENST00000312711.1	37	c.181T>C	CCDS31527.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733651	0.48939	.	.	ENSG00000181689	ENST00000312711	T	0.00551	6.65	4.65	4.65	0.58169	GPCR, rhodopsin-like superfamily (1);	0.094256	0.47455	D	0.000227	T	0.01870	0.0059	M	0.75150	2.29	0.34625	D	0.719043	D	0.76494	0.999	D	0.65987	0.94	T	0.52540	-0.8562	10	0.62326	D	0.03	.	13.348	0.60584	0.0:0.0:0.0:1.0	.	61	Q8NH51	OR8K3_HUMAN	L	61	ENSP00000323555:F61L	ENSP00000323555:F61L	F	+	1	0	OR8K3	55842539	0.999000	0.42202	1.000000	0.80357	0.005000	0.04900	1.950000	0.40323	2.074000	0.62210	0.519000	0.50382	TTT		0.383	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202		9	180	0	0	0	0	9	180				
OR5R1	219479	broad.mit.edu	37	11	56185379	56185379	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56185379A>T	ENST00000312253.1	-	1	329	c.330T>A	c.(328-330)acT>acA	p.T110T		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAAACACTCAGTGATCATGA	0.453																																						uc010rji.1		NA																	0				ovary(2)	2						c.(328-330)ACT>ACA		olfactory receptor, family 5, subfamily R,							104.0	98.0	100.0					11																	56185379		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185379A>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.330T>A	11.37:g.56185379A>T							p.T110T	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	330	-	Esophageal squamous(21;0.00448)		110			Helical; Name=3; (Potential).			Silent	SNP	ENST00000312253.1	37	c.330T>A	CCDS31530.1																																																																																				0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		15	37	0	0	0	0	15	37				
OR5M3	219482	broad.mit.edu	37	11	56237806	56237807	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56237806_56237807GG>TT	ENST00000312240.2	-	1	207_208	c.167_168CC>AA	c.(166-168)cCC>cAA	p.P56Q		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AAAAGTACATGGGGTTGTTAAG	0.396																																						uc010rjk.1		NA																	0				ovary(2)	2						c.(166-168)CCC>CAA		olfactory receptor, family 5, subfamily M,																																				SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237806_56237807GG>TT	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.167_168delinsTT	11.37:g.56237806_56237807delinsTT	ENSP00000312208:p.Pro56Gln						p.P56Q	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN			1	167_168	-	Esophageal squamous(21;0.00448)		56			Helical; Name=2; (Potential).		B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	DNP	ENST00000312240.2	37	c.167_168CC>AA	CCDS31532.1																																																																																				0.396	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		18	44	0	0	0	0	18	44				
OR5M1	390168	broad.mit.edu	37	11	56380486	56380486	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56380486G>C	ENST00000526538.1	-	1	492	c.493C>G	c.(493-495)Cac>Gac	p.H165D		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	165						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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AAGGATAAGTGAAAGGTTAGC	0.463																																						uc001nja.1		NA																	0				central_nervous_system(1)	1						c.(493-495)CAC>GAC		olfactory receptor, family 5, subfamily M,							91.0	86.0	87.0					11																	56380486		1944	4151	6095	SO:0001583	missense	390168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56380486G>C	AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.493C>G	11.37:g.56380486G>C	ENSP00000435416:p.His165Asp						p.H165D	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN			1	493	-			165			Extracellular (Potential).		Q6IF60|Q96RB6	Missense_Mutation	SNP	ENST00000526538.1	37	c.493C>G	CCDS53631.1	.	.	.	.	.	.	.	.	.	.	G	8.060	0.767910	0.15983	.	.	ENSG00000255012	ENST00000526538	T	0.00069	8.77	3.71	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.173092	0.27787	N	0.017851	T	0.00144	0.0004	N	0.25426	0.745	0.09310	N	1	B	0.30973	0.302	B	0.39971	0.315	T	0.32561	-0.9902	10	0.62326	D	0.03	-21.9587	9.179	0.37129	0.1091:0.0:0.8909:0.0	.	165	Q8NGP8	OR5M1_HUMAN	D	165	ENSP00000435416:H165D	ENSP00000435416:H165D	H	-	1	0	OR5M1	56137062	0.000000	0.05858	0.987000	0.45799	0.322000	0.28314	0.059000	0.14322	1.949000	0.56562	0.280000	0.19369	CAC		0.463	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391610.1	NM_001004740		20	39	0	0	0	0	20	39				
OR6Q1	219952	broad.mit.edu	37	11	57799168	57799168	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:57799168C>A	ENST00000302622.3	+	1	767	c.744C>A	c.(742-744)caC>caA	p.H248Q	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GTGCAGCTCACCTGACTGTGG	0.512																																						uc010rjz.1		NA																	0				kidney(1)	1						c.(742-744)CAC>CAA		olfactory receptor, family 6, subfamily Q,							182.0	154.0	164.0					11																	57799168		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799168C>A	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.744C>A	11.37:g.57799168C>A	ENSP00000307734:p.His248Gln					OR9Q1_uc001nmj.2_Intron	p.H248Q	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	744	+		Breast(21;0.0707)|all_epithelial(135;0.142)	248			Helical; Name=6; (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.744C>A	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633464	0.67015	.	.	ENSG00000172381	ENST00000302622	T	0.00307	8.17	5.14	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40469	N	0.001091	T	0.00906	0.0030	H	0.95402	3.665	0.37345	D	0.910555	D	0.89917	1.0	D	0.97110	1.0	T	0.45571	-0.9252	10	0.87932	D	0	.	7.7147	0.28698	0.0:0.7654:0.0:0.2346	.	248	Q8NGQ2	OR6Q1_HUMAN	Q	248	ENSP00000307734:H248Q	ENSP00000307734:H248Q	H	+	3	2	OR6Q1	57555744	0.993000	0.37304	0.999000	0.59377	0.966000	0.64601	1.212000	0.32394	1.025000	0.39708	0.643000	0.83706	CAC		0.512	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		52	139	1	0	2.15e-31	4.52e-31	52	139				
OR1S2	219958	broad.mit.edu	37	11	57970690	57970690	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:57970690T>C	ENST00000302592.6	-	1	963	c.964A>G	c.(964-966)Att>Gtt	p.I322V		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	322						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGGGAAGAAATTTTTCTATTG	0.418																																						uc010rkb.1		NA																	0				ovary(1)	1						c.(964-966)ATT>GTT		olfactory receptor, family 1, subfamily S,							127.0	130.0	129.0					11																	57970690		2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57970690T>C	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.964A>G	11.37:g.57970690T>C	ENSP00000305469:p.Ile322Val						p.I322V	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	964	-		Breast(21;0.0589)	322			Cytoplasmic (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.964A>G	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	T	0.259	-1.000663	0.02128	.	.	ENSG00000197887	ENST00000302592	T	0.36699	1.24	4.8	-2.25	0.06888	.	2.732680	0.01803	N	0.033019	T	0.17023	0.0409	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.08953	-1.0697	10	0.14656	T	0.56	.	4.1618	0.10287	0.1099:0.0736:0.3546:0.4619	.	322	Q8NGQ3	OR1S2_HUMAN	V	322	ENSP00000305469:I322V	ENSP00000305469:I322V	I	-	1	0	OR1S2	57727266	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-3.114000	0.00598	-0.880000	0.03997	-1.255000	0.01485	ATT		0.418	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		55	97	0	0	0	0	55	97				
GLYATL1	92292	broad.mit.edu	37	11	58714591	58714591	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:58714591C>A	ENST00000317391.4	+	4	371	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	GLYATL1_ENST00000300079.5_Intron|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220494.1	NP_001207423.1	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	11						mitochondrion (GO:0005739)	glutamine N-acyltransferase activity (GO:0047946)|glycine N-acyltransferase activity (GO:0047961)			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCATAAGCTGCTGGCCCTATA	0.478																																						uc001nnf.2		NA																	0				ovary(1)	1						c.(31-33)CTG>ATG		SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	Glycine(DB00145)						103.0	95.0	98.0					11																	58714591		2201	4295	6496	SO:0001583	missense	92292					mitochondrion	glycine N-acyltransferase activity	g.chr11:58714591C>A	AK091965	CCDS31556.1, CCDS55768.1	11q12.1	2014-08-12			ENSG00000166840	ENSG00000166840			30519	protein-coding gene	gene with protein product		614761				12477932	Standard	NM_080661		Approved	MGC15397, FLJ34646	uc001nnh.2	Q969I3	OTTHUMG00000167221	ENST00000317391.4:c.31C>A	11.37:g.58714591C>A	ENSP00000322223:p.Leu11Met					uc001nng.1_Intron|GLYATL1_uc001nnh.1_Intron|GLYATL1_uc001nni.1_Missense_Mutation_p.L11M|GLYATL1_uc001nnj.1_Missense_Mutation_p.L11M	p.L11M			Q969I3	GLYL1_HUMAN			4	407	+			11					A6NDT0|Q7Z510|Q8NAW8	Missense_Mutation	SNP	ENST00000317391.4	37	c.31C>A	CCDS55768.1	.	.	.	.	.	.	.	.	.	.	.	16.36	3.102247	0.56183	.	.	ENSG00000166840	ENST00000525608;ENST00000444580;ENST00000317391;ENST00000532726	T;T;T	0.15603	2.41;2.41;2.41	2.73	1.8	0.24995	Glycine N-acyltransferase, N-terminal (1);	.	.	.	.	T	0.16685	0.0401	L	0.39245	1.2	0.09310	N	1	D	0.59357	0.985	P	0.48738	0.588	T	0.11867	-1.0570	9	0.40728	T	0.16	.	5.1046	0.14777	0.0:0.8248:0.0:0.1752	.	11	Q969I3	GLYL1_HUMAN	M	11	ENSP00000433716:L11M;ENSP00000322223:L11M;ENSP00000436116:L11M	ENSP00000322223:L11M	L	+	1	2	GLYATL1	58471167	0.002000	0.14202	0.006000	0.13384	0.806000	0.45545	0.281000	0.18810	0.340000	0.23745	0.411000	0.27672	CTG		0.478	GLYATL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393783.1	NM_080661		14	28	1	0	1.58e-08	2.73e-08	14	28				
MS4A3	932	broad.mit.edu	37	11	59829952	59829952	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:59829952C>A	ENST00000278865.3	+	3	241	c.168C>A	c.(166-168)atC>atA	p.I56I	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000534744.1_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	56						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCATCCAGATCCTGAATGCAG	0.423																																						uc001nom.2		NA																	0				ovary(2)|skin(1)	3						c.(166-168)ATC>ATA		membrane-spanning 4-domains, subfamily A, member							173.0	157.0	162.0					11																	59829952		2201	4295	6496	SO:0001819	synonymous_variant	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59829952C>A	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.168C>A	11.37:g.59829952C>A						MS4A3_uc001non.2_Intron|MS4A3_uc001noo.2_Intron	p.I56I	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			3	296	+		all_epithelial(135;0.245)	56			Helical; (Potential).		A8MTP8|Q8NHW2	Silent	SNP	ENST00000278865.3	37	c.168C>A	CCDS31567.1																																																																																				0.423	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			30	80	1	0	1.31e-18	2.64e-18	30	80				
AHNAK	79026	broad.mit.edu	37	11	62289778	62289778	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:62289778G>C	ENST00000378024.4	-	5	12385	c.12111C>G	c.(12109-12111)atC>atG	p.I4037M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4037					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCCTTGATGTCAACTT	0.493																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(12109-12111)ATC>ATG		AHNAK nucleoprotein isoform 1							171.0	182.0	179.0					11																	62289778		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62289778G>C	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12111C>G	11.37:g.62289778G>C	ENSP00000367263:p.Ile4037Met					AHNAK_uc001ntk.1_Intron	p.I4037M	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	12411	-		Melanoma(852;0.155)	4037					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12111C>G	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	6.937	0.542579	0.13250	.	.	ENSG00000124942	ENST00000378024	T	0.01159	5.25	4.39	1.34	0.21922	.	0.152370	0.41605	D	0.000854	T	0.02571	0.0078	M	0.91038	3.17	0.33162	D	0.547088	B	0.28971	0.229	B	0.30572	0.117	T	0.02450	-1.1157	10	0.38643	T	0.18	-7.2011	5.4951	0.16797	0.3245:0.1342:0.5412:0.0	.	4037	Q09666	AHNK_HUMAN	M	4037	ENSP00000367263:I4037M	ENSP00000367263:I4037M	I	-	3	3	AHNAK	62046354	0.000000	0.05858	0.270000	0.24601	0.032000	0.12392	-0.646000	0.05403	0.299000	0.22661	0.176000	0.17051	ATC		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		92	249	0	0	0	0	92	249				
AHNAK	79026	broad.mit.edu	37	11	62298691	62298691	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:62298691C>G	ENST00000378024.4	-	5	3472	c.3198G>C	c.(3196-3198)aaG>aaC	p.K1066N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1066					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCAAAGACATCTTAGGAGCTC	0.443																																						uc001ntl.2		NA																	0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(3196-3198)AAG>AAC		AHNAK nucleoprotein isoform 1							115.0	112.0	113.0					11																	62298691		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62298691C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3198G>C	11.37:g.62298691C>G	ENSP00000367263:p.Lys1066Asn					AHNAK_uc001ntk.1_Intron	p.K1066N	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	3498	-		Melanoma(852;0.155)	1066					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3198G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	N	12.37	1.918219	0.33815	.	.	ENSG00000124942	ENST00000378024	T	0.01252	5.1	4.76	3.84	0.44239	.	0.119039	0.56097	D	0.000026	T	0.09905	0.0243	M	0.92317	3.295	0.22468	N	0.999074	D	0.71674	0.998	D	0.81914	0.995	T	0.08452	-1.0721	10	0.32370	T	0.25	-11.7965	11.3453	0.49556	0.0:0.9119:0.0:0.0881	.	1066	Q09666	AHNK_HUMAN	N	1066	ENSP00000367263:K1066N	ENSP00000367263:K1066N	K	-	3	2	AHNAK	62055267	0.231000	0.23751	1.000000	0.80357	0.487000	0.33371	-0.071000	0.11505	2.201000	0.70794	0.555000	0.69702	AAG		0.443	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		23	106	0	0	0	0	23	106				
PLCB3	5331	broad.mit.edu	37	11	64022704	64022704	+	Splice_Site	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:64022704A>T	ENST00000540288.1	+	5	490		c.e5-1		PLCB3_ENST00000279230.6_Splice_Site|PLCB3_ENST00000325234.5_Splice_Site	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)						inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CTGGCCCCCCAGGTCTGGTCT	0.627																																						uc001nzb.2		NA																	0				ovary(1)|pancreas(1)	2						c.e5-2		phospholipase C beta 3							35.0	32.0	33.0					11																	64022704		2200	4297	6497	SO:0001630	splice_region_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64022704A>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.388-1A>T	11.37:g.64022704A>T						PLCB3_uc009ypg.1_Splice_Site_p.V130_splice|PLCB3_uc009yph.1_Splice_Site_p.V63_splice|PLCB3_uc009ypi.2_Splice_Site_p.V130_splice	p.V130_splice	NM_000932	NP_000923	Q01970	PLCB3_HUMAN			5	388	+								A5PKZ6|G5E960|Q8N1A4	Splice_Site	SNP	ENST00000540288.1	37	c.388_splice	CCDS8064.1	.	.	.	.	.	.	.	.	.	.	A	14.69	2.611167	0.46631	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.597	0.61996	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLCB3	63779280	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.059000	0.93902	1.923000	0.55706	0.398000	0.26397	.		0.627	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1		Intron	8	10	0	0	0	0	8	10				
NRXN2	9379	broad.mit.edu	37	11	64390225	64390225	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:64390225C>A	ENST00000377551.1	-	20	4384	c.4173G>T	c.(4171-4173)caG>caT	p.Q1391H	NRXN2_ENST00000301894.2_Splice_Site_p.Q345H|NRXN2_ENST00000409571.1_Splice_Site_p.Q1384H|NRXN2_ENST00000377559.3_Splice_Site_p.Q1321H|NRXN2_ENST00000265459.6_Splice_Site_p.Q1391H			Q9P2S2	NRX2A_HUMAN	neurexin 2	1391					adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGGGCCTCACCTGGGTGGTGC	0.622																																						uc001oap.2		NA																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(1033-1035)CAG>CAT		neurexin 2 isoform beta precursor							62.0	59.0	60.0					11																	64390225		2201	4297	6498	SO:0001630	splice_region_variant	9379				cell adhesion	integral to membrane		g.chr11:64390225C>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.4173+1G>T	11.37:g.64390225C>A						NRXN2_uc001oar.2_Missense_Mutation_p.Q1391H|NRXN2_uc001oas.2_Missense_Mutation_p.Q1321H|NRXN2_uc001oao.2_Missense_Mutation_p.Q31H|NRXN2_uc001oaq.2_Missense_Mutation_p.Q1058H	p.Q345H	NM_138734	NP_620063	P58401	NRX2B_HUMAN			6	1546	-			345			Extracellular (Potential).		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.1035G>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081795	0.76528	.	.	ENSG00000110076	ENST00000301894;ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571;ENST00000423049	T;T;T;T;T;T	0.65549	0.36;-0.13;-0.16;-0.13;-0.03;1.19	4.18	4.18	0.49190	.	0.000000	0.42420	U	0.000702	T	0.69495	0.3117	L	0.61218	1.895	0.58432	D	0.999995	P;D;P;D	0.60575	0.942;0.975;0.855;0.988	P;P;B;P	0.54664	0.693;0.555;0.38;0.758	T	0.70741	-0.4789	9	.	.	.	.	14.4205	0.67180	0.0:1.0:0.0:0.0	.	1321;1391;1137;345	Q9P2S2-2;Q9P2S2;E7EV67;P58401	.;NRX2A_HUMAN;.;NRX2B_HUMAN	H	345;1391;1321;1391;1321;1384;276	ENSP00000301894:Q345H;ENSP00000366774:Q1391H;ENSP00000366782:Q1321H;ENSP00000265459:Q1391H;ENSP00000386416:Q1384H;ENSP00000407374:Q276H	.	Q	-	3	2	NRXN2	64146801	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.347000	0.79356	2.334000	0.79466	0.561000	0.74099	CAG		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	Missense_Mutation	13	62	1	0	0.00185496	0.00272211	13	62				
CDC42EP2	10435	broad.mit.edu	37	11	65088571	65088571	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:65088571A>G	ENST00000544348.1	+	2	808	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.T68A|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.T68A			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	68					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|Rho GTPase activator activity (GO:0005100)			lung(1)	1						CCTGCCGGGGACCATGGTGGA	0.647																																						uc001odl.2		NA																	0					0						c.(202-204)ACC>GCC		Cdc42 effector protein 2							75.0	73.0	74.0					11																	65088571		2201	4297	6498	SO:0001583	missense	10435				actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity	g.chr11:65088571A>G	AF098290	CCDS8099.1	11q13	2008-07-18				ENSG00000149798			16263	protein-coding gene	gene with protein product	"""CRIB-containing BOGR1 protein"""	606132				10490598, 11035016	Standard	NM_006779		Approved	CEP2, BORG1	uc001odl.3	O14613		ENST00000544348.1:c.202A>G	11.37:g.65088571A>G	ENSP00000442534:p.Thr68Ala						p.T68A	NM_006779	NP_006770	O14613	BORG1_HUMAN			2	652	+			68					B2RD85|Q9UNS0	Missense_Mutation	SNP	ENST00000544348.1	37	c.202A>G	CCDS8099.1	.	.	.	.	.	.	.	.	.	.	A	9.190	1.025754	0.19512	.	.	ENSG00000149798	ENST00000279249;ENST00000533419;ENST00000544348	D;D;D	0.84730	-1.89;-1.89;-1.89	5.23	5.23	0.72850	PAK-box/P21-Rho-binding (1);	0.250386	0.33691	N	0.004657	T	0.80287	0.4595	L	0.36672	1.1	0.37049	D	0.897526	P	0.48230	0.907	P	0.50490	0.642	T	0.77616	-0.2521	10	0.08381	T	0.77	-47.0462	8.4438	0.32830	0.8266:0.0:0.0:0.1734	.	68	O14613	BORG1_HUMAN	A	68	ENSP00000279249:T68A;ENSP00000431660:T68A;ENSP00000442534:T68A	ENSP00000279249:T68A	T	+	1	0	CDC42EP2	64845147	0.407000	0.25352	0.917000	0.36280	0.165000	0.22458	1.964000	0.40462	2.196000	0.70406	0.482000	0.46254	ACC		0.647	CDC42EP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387258.1	NM_006779		24	54	0	0	0	0	24	54				
PACS1	55690	broad.mit.edu	37	11	66003368	66003368	+	Splice_Site	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:66003368G>A	ENST00000320580.4	+	19	2240		c.e19-1		PACS1_ENST00000529757.1_Splice_Site	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1						protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCTCCCAACAGCCCTGATGAA	0.532																																						uc001oha.1		NA																	0				ovary(6)	6						c.e19-1		phosphofurin acidic cluster sorting protein 1							184.0	171.0	176.0					11																	66003368		2200	4295	6495	SO:0001630	splice_region_variant	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66003368G>A	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2208-1G>A	11.37:g.66003368G>A						PACS1_uc010rou.1_Splice_Site_p.F272_splice	p.F736_splice	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			19	2342	+								Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Splice_Site	SNP	ENST00000320580.4	37	c.2208_splice	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531185	0.85706	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3595	0.87346	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PACS1	65759944	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.547000	0.98100	2.619000	0.88677	0.655000	0.94253	.		0.532	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026	Intron	37	115	0	0	0	0	37	115				
RBM14	10432	broad.mit.edu	37	11	66392979	66392979	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:66392979A>T	ENST00000310137.4	+	2	1771	c.1632A>T	c.(1630-1632)ccA>ccT	p.P544P	RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM14_ENST00000393979.3_Intron|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000511114.1_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	544	Ala-rich.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCAGCCAGGCAATGCCT	0.657																																						uc001oit.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1630-1632)CCA>CCT		RNA binding motif protein 14							42.0	38.0	39.0					11																	66392979		2200	4295	6495	SO:0001819	synonymous_variant	10432				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity	g.chr11:66392979A>T	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.1632A>T	11.37:g.66392979A>T						RBM14_uc009yrh.2_Intron|RBM14_uc009yri.2_Intron|RBM4_uc009yrj.2_Intron|RBM4_uc009yrk.2_Intron	p.P544P	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN			2	1771	+			544			Ala-rich.		B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	ENST00000310137.4	37	c.1632A>T	CCDS8147.1																																																																																				0.657	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277128.1	NM_006328		20	46	0	0	0	0	20	46				
CORO1B	57175	broad.mit.edu	37	11	67206199	67206199	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:67206199G>T	ENST00000341356.5	-	10	1397	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P	CORO1B_ENST00000539724.1_5'UTR|CORO1B_ENST00000393893.1_Silent_p.P429P|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	429					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TGGTGGAGGCGGGGGCCCCTA	0.716																																						uc001olj.1		NA																	0				large_intestine(1)|ovary(1)	2						c.(1285-1287)CCC>CCA		coronin, actin binding protein, 1B							3.0	4.0	4.0					11																	67206199		1678	3614	5292	SO:0001819	synonymous_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67206199G>T	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1287C>A	11.37:g.67206199G>T						PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Silent_p.P429P|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Silent_p.P429P	p.P429P	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		9	1323	-			429					B2RD45	Silent	SNP	ENST00000341356.5	37	c.1287C>A	CCDS8164.1																																																																																				0.716	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		3	7	1	0	1.24e-05	1.96e-05	3	7				
CPT1A	1374	broad.mit.edu	37	11	68571469	68571469	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:68571469C>A	ENST00000265641.5	-	5	708	c.554G>T	c.(553-555)aGg>aTg	p.R185M	CPT1A_ENST00000540367.1_Splice_Site_p.R185M|CPT1A_ENST00000376618.2_Splice_Site_p.R185M|CPT1A_ENST00000539743.1_Splice_Site_p.R185M	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	185					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)	CACACCTACCCTGTTCACAGT	0.512																																						uc001oog.3		NA																	0				skin(2)	2						c.(553-555)AGG>ATG		carnitine palmitoyltransferase 1A liver isoform	L-Carnitine(DB00583)|Perhexiline(DB01074)						80.0	70.0	74.0					11																	68571469		2200	4294	6494	SO:0001630	splice_region_variant	1374				carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr11:68571469C>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.555+1G>T	11.37:g.68571469C>A						CPT1A_uc001oof.3_Missense_Mutation_p.R185M|CPT1A_uc009ysj.2_Missense_Mutation_p.R185M	p.R185M	NM_001876	NP_001867	P50416	CPT1A_HUMAN	LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		5	724	-	Esophageal squamous(3;3.28e-14)		185			Cytoplasmic (Potential).		Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	c.554G>T	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500792	0.64298	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68	5.11	4.2	0.49525	.	0.000000	0.85682	D	0.000000	D	0.95856	0.8651	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.79108	0.987;0.992;0.986	D	0.96083	0.9055	10	0.62326	D	0.03	.	13.1036	0.59235	0.0:0.9229:0.0:0.0771	.	185;185;185	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	M	185	ENSP00000439084:R185M;ENSP00000365803:R185M;ENSP00000265641:R185M;ENSP00000446108:R185M	ENSP00000265641:R185M	R	-	2	0	CPT1A	68328045	1.000000	0.71417	0.993000	0.49108	0.325000	0.28411	7.478000	0.81082	1.162000	0.42619	0.591000	0.81541	AGG		0.512	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	Missense_Mutation	21	44	1	0	3.88e-16	7.61e-16	21	44				
SLCO2B1	11309	broad.mit.edu	37	11	74911282	74911282	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:74911282A>G	ENST00000289575.5	+	11	2008	c.1613A>G	c.(1612-1614)aAc>aGc	p.N538S	SLCO2B1_ENST00000341411.4_Missense_Mutation_p.N311S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.N422S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.N516S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.N394S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.N311S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.N283S	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	538	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TTCTACACCAACTGCAGCTGC	0.622																																						uc001owb.2		NA																	0				ovary(1)|breast(1)	2						c.(1612-1614)AAC>AGC		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						79.0	77.0	78.0					11																	74911282		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74911282A>G	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1613A>G	11.37:g.74911282A>G	ENSP00000289575:p.Asn538Ser					SLCO2B1_uc010rrq.1_Missense_Mutation_p.N283S|SLCO2B1_uc010rrr.1_Missense_Mutation_p.N394S|SLCO2B1_uc010rrs.1_Missense_Mutation_p.N422S|SLCO2B1_uc001owc.2_Missense_Mutation_p.N311S|SLCO2B1_uc001owd.2_Missense_Mutation_p.N516S	p.N538S	NM_007256	NP_009187	O94956	SO2B1_HUMAN			11	2000	+			538			Extracellular (Potential).|Kazal-like.		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1613A>G	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.641215	0.47153	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.49432	0.93;0.97;1.07;1.6;0.78;0.97;0.95	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.112126	0.64402	D	0.000010	T	0.47002	0.1422	M	0.74467	2.265	0.37158	D	0.902489	P;P;P;P	0.45634	0.863;0.722;0.835;0.863	B;B;B;B	0.40702	0.338;0.338;0.295;0.338	T	0.61342	-0.7082	10	0.66056	D	0.02	.	7.9845	0.30202	0.9091:0.0:0.0909:0.0	.	394;283;311;538	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	S	538;311;422;283;394;311;516	ENSP00000289575:N538S;ENSP00000341286:N311S;ENSP00000434112:N422S;ENSP00000432650:N283S;ENSP00000436324:N394S;ENSP00000389653:N311S;ENSP00000388912:N516S	ENSP00000289575:N538S	N	+	2	0	SLCO2B1	74588930	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	2.958000	0.49145	2.042000	0.60477	0.379000	0.24179	AAC		0.622	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		19	87	0	0	0	0	19	87				
PCF11	51585	broad.mit.edu	37	11	82880066	82880066	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:82880066C>T	ENST00000298281.4	+	8	3141	c.2689C>T	c.(2689-2691)Cag>Tag	p.Q897*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	897	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ACCTCATGGTCAGCCTGTGGG	0.552																																						uc001ozx.3		NA																	0				ovary(1)	1						c.(2689-2691)CAG>TAG		pre-mRNA cleavage complex II protein Pcf11							59.0	59.0	59.0					11																	82880066		1951	4144	6095	SO:0001587	stop_gained	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82880066C>T	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.2689C>T	11.37:g.82880066C>T	ENSP00000298281:p.Gln897*					PCF11_uc010rsu.1_Nonsense_Mutation_p.Q1028*	p.Q897*	NM_015885	NP_056969	O94913	PCF11_HUMAN			8	3034	+			897			Gly-rich.		A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	ENST00000298281.4	37	c.2689C>T	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	C	42	9.235248	0.99110	.	.	ENSG00000165494	ENST00000298281	.	.	.	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.4455	20.6593	0.99626	0.0:1.0:0.0:0.0	.	.	.	.	X	897	.	.	Q	+	1	0	PCF11	82557714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.002000	0.70693	2.885000	0.99019	0.655000	0.94253	CAG		0.552	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		20	38	0	0	0	0	20	38				
CREBZF	58487	broad.mit.edu	37	11	85375697	85375697	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:85375697C>A	ENST00000527447.1	-	1	449	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_5'UTR|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	75					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GGCGCGCGCACGGCCACGCCG	0.706																																					NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2		NA																	0				ovary(1)	1						c.(223-225)GTG>TTG		HCF-binding transcription factor Zhangfei							31.0	37.0	35.0					11																	85375697		1855	4075	5930	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375697C>A	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.223G>T	11.37:g.85375697C>A	ENSP00000433459:p.Val75Leu					CREBZF_uc010rtc.1_RNA|CREBZF_uc010rtd.1_RNA	p.V75L	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			1	486	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	75					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.223G>T	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198707	0.58126	.	.	ENSG00000137504	ENST00000527447	.	.	.	4.02	3.11	0.35812	.	0.000000	0.30538	U	0.009401	T	0.29976	0.0750	N	0.14661	0.345	0.80722	D	1	B	0.11235	0.004	B	0.15052	0.012	T	0.05241	-1.0897	8	.	.	.	-4.6467	7.4417	0.27187	0.0:0.8811:0.0:0.1189	.	75	Q9NS37	ZHANG_HUMAN	L	75	.	.	V	-	1	0	CREBZF	85053345	0.998000	0.40836	1.000000	0.80357	0.979000	0.70002	3.521000	0.53472	0.903000	0.36546	0.561000	0.74099	GTG		0.706	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		38	76	1	0	2.05e-20	4.17e-20	38	76				
SYTL2	54843	broad.mit.edu	37	11	85420476	85420476	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:85420476T>A	ENST00000528231.1	-	12	2175	c.1898A>T	c.(1897-1899)cAg>cTg	p.Q633L	SYTL2_ENST00000525702.1_Missense_Mutation_p.Q75L|SYTL2_ENST00000529581.1_Missense_Mutation_p.Q75L|SYTL2_ENST00000524452.1_Missense_Mutation_p.Q609L|SYTL2_ENST00000533892.1_Missense_Mutation_p.Q35L|SYTL2_ENST00000527523.1_Missense_Mutation_p.Q601L|SYTL2_ENST00000354566.3_Missense_Mutation_p.Q971L|SYTL2_ENST00000316356.4_Missense_Mutation_p.Q634L|SYTL2_ENST00000359152.5_Missense_Mutation_p.Q1479L|SYTL2_ENST00000389960.4_Missense_Mutation_p.Q609L|SYTL2_ENST00000389958.3_Missense_Mutation_p.Q64L|SYTL2_ENST00000525423.1_Missense_Mutation_p.Q955L	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	633	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AATTGCAAACTGAATATTTCC	0.413																																						uc010rth.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(1897-1899)CAG>CTG		synaptotagmin-like 2 isoform g							125.0	117.0	120.0					11																	85420476		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85420476T>A	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1898A>T	11.37:g.85420476T>A	ENSP00000431701:p.Gln633Leu					SYTL2_uc010rtg.1_Missense_Mutation_p.Q634L|SYTL2_uc010rti.1_Missense_Mutation_p.Q609L|SYTL2_uc010rtj.1_Missense_Mutation_p.Q601L|SYTL2_uc001pav.2_Missense_Mutation_p.Q75L|SYTL2_uc010rte.1_Missense_Mutation_p.Q35L|SYTL2_uc001pax.2_Missense_Mutation_p.Q75L|SYTL2_uc001paz.2_5'UTR|SYTL2_uc001pba.2_Missense_Mutation_p.Q18L|SYTL2_uc001pay.2_Missense_Mutation_p.Q64L|SYTL2_uc001paw.2_Missense_Mutation_p.Q35L|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.Q931L|SYTL2_uc001pbb.2_Missense_Mutation_p.Q971L|SYTL2_uc001pbc.2_Missense_Mutation_p.Q955L|SYTL2_uc010rtf.1_Missense_Mutation_p.Q451L	p.Q633L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	12	2174	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	633			C2 1.		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1898A>T	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906759	0.52333	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452;ENST00000527794;ENST00000529534;ENST00000534414;ENST00000526999	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.06608	3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28;3.28	5.99	4.85	0.62838	C2 calcium/lipid-binding domain, CaLB (1);	0.188790	0.50627	D	0.000101	T	0.13157	0.0319	L	0.28556	0.865	0.58432	D	0.999997	P;D;D;B;P;P;B;P;B;P	0.58620	0.584;0.983;0.97;0.372;0.863;0.72;0.187;0.72;0.314;0.619	B;D;P;B;P;P;B;P;B;B	0.66084	0.234;0.941;0.874;0.234;0.8;0.537;0.078;0.639;0.118;0.288	T	0.07986	-1.0744	9	.	.	.	-6.0456	12.5786	0.56378	0.1246:0.0:0.0:0.8754	.	601;609;633;634;451;931;955;971;64;35	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	L	609;1479;971;634;75;955;75;64;350;633;35;601;609;35;75;128;75	ENSP00000374610:Q609L;ENSP00000352065:Q1479L;ENSP00000346576:Q971L;ENSP00000318803:Q634L;ENSP00000432996:Q75L;ENSP00000432694:Q955L;ENSP00000435855:Q75L;ENSP00000374608:Q64L;ENSP00000435009:Q350L;ENSP00000431701:Q633L;ENSP00000432144:Q35L;ENSP00000434010:Q601L;ENSP00000435238:Q609L;ENSP00000437005:Q35L;ENSP00000432137:Q75L;ENSP00000434111:Q75L	.	Q	-	2	0	SYTL2	85098124	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.262000	0.72514	1.065000	0.40693	-0.333000	0.08304	CAG		0.413	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		25	65	0	0	0	0	25	65				
Unknown	0	broad.mit.edu	37	11	89819843	89819843	+	IGR	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:89819843G>A								TRIM49C (13285 upstream) : SNORD56 (31715 downstream)																							GTAAAGAGATGCAACATTTGT	0.483																																						uc010rub.1		NA																	0					0						c.(724-726)ATG>ATA		upstream binding transcription factor, RNA							12.0	9.0	10.0					11																	89819843		558	1389	1947	SO:0001628	intergenic_variant	642623				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr11:89819843G>A																													11.37:g.89819843G>A							p.M242I	NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN			1	726	+			242			HMG box 2.			Missense_Mutation	SNP		37	c.726G>A																																																																																				0	0.483									50	101	0	0	0	0	50	101				
FAT3	120114	broad.mit.edu	37	11	92531613	92531613	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:92531613G>C	ENST00000298047.6	+	9	5451	c.5434G>C	c.(5434-5436)Gtg>Ctg	p.V1812L	FAT3_ENST00000409404.2_Missense_Mutation_p.V1812L|FAT3_ENST00000525166.1_Missense_Mutation_p.V1662L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1812	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCTCTGCTTGTGTATCAGAT	0.478										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(5434-5436)GTG>CTG		FAT tumor suppressor homolog 3							36.0	36.0	36.0					11																	92531613		1961	4160	6121	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531613G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5434G>C	11.37:g.92531613G>C	ENSP00000298047:p.Val1812Leu	TCGA Ovarian(4;0.039)					p.V1812L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5451	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1812			Cadherin 16.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5434G>C		.	.	.	.	.	.	.	.	.	.	G	20.6	4.015455	0.75161	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53206	0.63;0.63;0.63	5.93	5.93	0.95920	.	.	.	.	.	T	0.68118	0.2966	M	0.65320	2	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.63603	-0.6600	9	0.41790	T	0.15	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1812	Q8TDW7-3	.	L	1812;1812;1662	ENSP00000298047:V1812L;ENSP00000387040:V1812L;ENSP00000432586:V1662L	ENSP00000298047:V1812L	V	+	1	0	FAT3	92171261	1.000000	0.71417	0.934000	0.37439	0.987000	0.75469	7.943000	0.87716	2.818000	0.97014	0.591000	0.81541	GTG		0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		10	23	0	0	0	0	10	23				
FAT3	120114	broad.mit.edu	37	11	92533403	92533403	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:92533403C>G	ENST00000298047.6	+	9	7241	c.7224C>G	c.(7222-7224)ccC>ccG	p.P2408P	FAT3_ENST00000409404.2_Silent_p.P2408P|FAT3_ENST00000525166.1_Silent_p.P2258P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2408	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P2408P(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATTAGCCCCCCGGGGCCATT	0.443										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(7222-7224)CCC>CCG		FAT tumor suppressor homolog 3							81.0	82.0	81.0					11																	92533403		1817	4076	5893	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533403C>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7224C>G	11.37:g.92533403C>G		TCGA Ovarian(4;0.039)					p.P2408P	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7241	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2408			Cadherin 22.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7224C>G																																																																																					0.443	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		42	89	0	0	0	0	42	89				
TRPC6	7225	broad.mit.edu	37	11	101344380	101344380	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:101344380C>G	ENST00000344327.3	-	7	2293	c.1869G>C	c.(1867-1869)ctG>ctC	p.L623L	TRPC6_ENST00000360497.4_Silent_p.L568L|TRPC6_ENST00000348423.4_Silent_p.L507L|TRPC6_ENST00000532133.1_Silent_p.L545L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	623					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTGATATCTGCAGAGGTCCAA	0.348																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1867-1869)CTG>CTC		transient receptor potential cation channel,							99.0	97.0	97.0					11																	101344380		2203	4298	6501	SO:0001819	synonymous_variant	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101344380C>G	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1869G>C	11.37:g.101344380C>G						TRPC6_uc009ywy.2_Silent_p.L507L|TRPC6_uc009ywz.1_Silent_p.L568L	p.L623L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	7	2294	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	623			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Silent	SNP	ENST00000344327.3	37	c.1869G>C	CCDS8311.1																																																																																				0.348	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		17	60	0	0	0	0	17	60				
KIAA1377	57562	broad.mit.edu	37	11	101834193	101834193	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:101834193T>C	ENST00000263468.8	+	6	2697	c.2427T>C	c.(2425-2427)aaT>aaC	p.N809N	KIAA1377_ENST00000537689.1_Silent_p.N610N	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	809										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTACATCAAATATTAGAAGTG	0.348																																						uc001pgm.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2425-2427)AAT>AAC		hypothetical protein LOC57562							60.0	61.0	61.0					11																	101834193		2203	4299	6502	SO:0001819	synonymous_variant	57562						protein binding	g.chr11:101834193T>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.2427T>C	11.37:g.101834193T>C						KIAA1377_uc001pgn.2_Silent_p.N765N|KIAA1377_uc010run.1_Silent_p.N610N|KIAA1377_uc009yxa.1_Silent_p.N610N	p.N809N	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2697	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	809					Q4G0U6	Silent	SNP	ENST00000263468.8	37	c.2427T>C	CCDS31658.1																																																																																				0.348	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		9	28	0	0	0	0	9	28				
MMP20	9313	broad.mit.edu	37	11	102477375	102477375	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:102477375G>C	ENST00000260228.2	-	6	856	c.844C>G	c.(844-846)Ctg>Gtg	p.L282V	RP11-817J15.2_ENST00000542119.1_RNA|RP11-817J15.2_ENST00000544115.1_RNA|MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	301					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	GCATGGGGCAGAGTGGGCTTC	0.522																																						uc001phc.2		NA																	0				urinary_tract(1)|skin(1)	2						c.(844-846)CTG>GTG		matrix metalloproteinase 20 preproprotein							113.0	109.0	110.0					11																	102477375		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477375G>C	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.844C>G	11.37:g.102477375G>C	ENSP00000260228:p.Leu282Val						p.L282V	NM_004771	NP_004762	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	857	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	282					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.844C>G	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	G	0.322	-0.961126	0.02249	.	.	ENSG00000137674	ENST00000260228	T	0.13778	2.56	5.45	-9.64	0.00541	.	2.029550	0.01654	N	0.024714	T	0.04137	0.0115	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30592	-0.9973	10	0.27082	T	0.32	.	4.2866	0.10858	0.0816:0.1669:0.3255:0.4259	.	282	O60882	MMP20_HUMAN	V	282	ENSP00000260228:L282V	ENSP00000260228:L282V	L	-	1	2	MMP20	101982585	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.849000	0.01672	-2.632000	0.00434	-1.151000	0.01829	CTG		0.522	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			19	47	0	0	0	0	19	47				
DDI1	414301	broad.mit.edu	37	11	103908508	103908508	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:103908508A>G	ENST00000302259.3	+	1	1201	c.958A>G	c.(958-960)Ata>Gta	p.I320V	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	320							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTCTTTCTCCATACTTGAGGA	0.453																																						uc001phr.2		NA																	0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(958-960)ATA>GTA		DDI1, DNA-damage inducible 1, homolog 1							137.0	127.0	130.0					11																	103908508		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908508A>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.958A>G	11.37:g.103908508A>G	ENSP00000302805:p.Ile320Val					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.I320V	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1201	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	320					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.958A>G	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	A	0.032	-1.327347	0.01309	.	.	ENSG00000170967	ENST00000302259	T	0.37752	1.18	5.21	2.9	0.33743	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.053223	0.64402	N	0.000001	T	0.09642	0.0237	N	0.00750	-1.22	0.43287	D	0.995264	B	0.19073	0.033	B	0.21917	0.037	T	0.28170	-1.0052	10	0.02654	T	1	-27.9937	8.23	0.31593	0.8351:0.0:0.1649:0.0	.	320	Q8WTU0	DDI1_HUMAN	V	320	ENSP00000302805:I320V	ENSP00000302805:I320V	I	+	1	0	DDI1	103413718	1.000000	0.71417	0.059000	0.19551	0.412000	0.31113	5.513000	0.67037	0.536000	0.28733	0.533000	0.62120	ATA		0.453	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		32	60	0	0	0	0	32	60				
KBTBD3	143879	broad.mit.edu	37	11	105925058	105925058	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:105925058C>A	ENST00000526793.1	-	3	517	c.358G>T	c.(358-360)Gat>Tat	p.D120Y	KBTBD3_ENST00000534815.1_Missense_Mutation_p.D41Y|KBTBD3_ENST00000531837.1_Missense_Mutation_p.D120Y	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	116										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		TCCACATTATCATCTGTTATT	0.328																																						uc001pja.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(358-360)GAT>TAT		BTB and kelch domain containing 3							79.0	86.0	83.0					11																	105925058		2201	4298	6499	SO:0001583	missense	143879							g.chr11:105925058C>A	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.358G>T	11.37:g.105925058C>A	ENSP00000436262:p.Asp120Tyr					KBTBD3_uc001pjb.2_Missense_Mutation_p.D120Y|KBTBD3_uc009yxm.2_Missense_Mutation_p.D41Y	p.D120Y	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	998	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	116					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.358G>T	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140408	0.56936	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.68765	-0.35;-0.35;-0.35	5.36	5.36	0.76844	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.093338	0.64402	D	0.000001	D	0.84338	0.5450	M	0.86651	2.83	0.47994	D	0.999565	D;D	0.76494	0.999;0.999	D;D	0.69479	0.961;0.964	D	0.87080	0.2165	10	0.87932	D	0	.	19.0932	0.93238	0.0:1.0:0.0:0.0	.	120;116	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	Y	41;120;120	ENSP00000431910:D41Y;ENSP00000436262:D120Y;ENSP00000432163:D120Y	ENSP00000436262:D120Y	D	-	1	0	KBTBD3	105430268	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.536000	0.60636	2.511000	0.84671	0.650000	0.86243	GAT		0.328	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		8	25	1	0	0.00307968	0.00445776	8	25				
CWF19L2	143884	broad.mit.edu	37	11	107224343	107224343	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:107224343C>A	ENST00000282251.5	-	13	2019	c.1992G>T	c.(1990-1992)gaG>gaT	p.E664D	CWF19L2_ENST00000433523.1_Missense_Mutation_p.E664D	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	664							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GACTCCGATGCTCAGCAATAG	0.413																																						uc010rvp.1		NA																	0					0						c.(1990-1992)GAG>GAT		CWF19-like 2, cell cycle control							128.0	121.0	123.0					11																	107224343		2201	4298	6499	SO:0001583	missense	143884						catalytic activity	g.chr11:107224343C>A	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.1992G>T	11.37:g.107224343C>A	ENSP00000282251:p.Glu664Asp					CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.E664D	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	13	2022	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	664			Potential.		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	ENST00000282251.5	37	c.1992G>T	CCDS8336.2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943478	0.53079	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.20069	2.84;2.1	5.95	2.93	0.34026	Histidine triad-like motif (1);Cwf19-like, C-terminal domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.31199	0.0789	L	0.52905	1.665	0.58432	D	0.999994	P	0.41597	0.756	P	0.51742	0.678	T	0.00735	-1.1588	10	0.29301	T	0.29	-24.517	12.7005	0.57029	0.0:0.7876:0.0:0.2124	.	664	Q2TBE0	C19L2_HUMAN	D	664	ENSP00000282251:E664D;ENSP00000387533:E664D	ENSP00000282251:E664D	E	-	3	2	CWF19L2	106729553	1.000000	0.71417	0.998000	0.56505	0.293000	0.27360	0.905000	0.28504	0.084000	0.17077	-0.797000	0.03246	GAG		0.413	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		24	53	1	0	2.22e-12	4.09e-12	24	53				
ZBTB16	7704	broad.mit.edu	37	11	113934661	113934661	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:113934661C>G	ENST00000335953.4	+	2	1019	c.639C>G	c.(637-639)ctC>ctG	p.L213L	ZBTB16_ENST00000392996.2_Silent_p.L213L	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	213					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)		GACAGTCTCTCCTGCAGGGAA	0.597																																						uc001pop.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(637-639)CTC>CTG		promyelocytic leukemia zinc finger protein							30.0	34.0	33.0					11																	113934661		2201	4296	6497	SO:0001819	synonymous_variant	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.chr11:113934661C>G	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.639C>G	11.37:g.113934661C>G						ZBTB16_uc001poo.1_Silent_p.L213L|ZBTB16_uc001poq.2_Silent_p.L213L	p.L213L	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	903	+		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)	213					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.639C>G	CCDS8367.1																																																																																				0.597	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		15	33	0	0	0	0	15	33				
NXPE1	120400	broad.mit.edu	37	11	114401134	114401134	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:114401134C>T	ENST00000424269.1	-	2	595	c.596G>A	c.(595-597)gGc>gAc	p.G199D	NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_Missense_Mutation_p.G57D|NXPE1_ENST00000536312.1_Missense_Mutation_p.G199D			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	199						extracellular region (GO:0005576)											TTTATCATAGCCTTGGTTCCT	0.498																																						uc001ppa.2		NA																	0					0						c.(169-171)GGC>GAC		hypothetical protein LOC120400							89.0	90.0	90.0					11																	114401134		2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114401134C>T	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.596G>A	11.37:g.114401134C>T	ENSP00000411690:p.Gly199Asp					FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.G199D	p.G57D	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	3	587	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	199					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.170G>A		.	.	.	.	.	.	.	.	.	.	C	14.16	2.453500	0.43531	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.45668	2.56;2.75;0.89	4.52	2.58	0.30949	.	0.214284	0.30639	N	0.009181	T	0.39091	0.1065	M	0.76002	2.32	0.29730	N	0.837966	B	0.31077	0.307	B	0.34722	0.188	T	0.32929	-0.9888	10	0.12103	T	0.63	.	8.2723	0.31851	0.0:0.75:0.1586:0.0914	.	199	F5H6W7	.	D	57;199;199	ENSP00000251921:G57D;ENSP00000411690:G199D;ENSP00000442984:G199D	ENSP00000251921:G57D	G	-	2	0	FAM55A	113906344	0.044000	0.20184	0.846000	0.33378	0.980000	0.70556	0.284000	0.18864	0.564000	0.29238	0.655000	0.94253	GGC		0.498	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		21	61	0	0	0	0	21	61				
CADM1	23705	broad.mit.edu	37	11	115080341	115080341	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:115080341G>T	ENST00000452722.3	-	8	1051	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537058.1_Missense_Mutation_p.T344N|CADM1_ENST00000331581.6_Missense_Mutation_p.T344N	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ggtggtggtggtggttgttgt	0.438																																						uc001ppi.3		NA																	0				ovary(2)	2						c.(1030-1032)ACC>AAC		immunoglobulin superfamily, member 4D isoform 1							45.0	50.0	48.0					11																	115080341		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080341G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1031C>A	11.37:g.115080341G>T	ENSP00000395359:p.Thr344Asn					CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Missense_Mutation_p.T96N	p.T344N	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1160	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	344	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).		Extracellular (Potential).			Missense_Mutation	SNP	ENST00000452722.3	37	c.1031C>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008232	0.19199	.	.	ENSG00000182985	ENST00000452722;ENST00000537058;ENST00000331581;ENST00000541325	T;T;T	0.64618	-0.1;0.13;-0.11	5.49	5.49	0.81192	Immunoglobulin-like fold (1);	0.749737	0.10237	U	0.698892	T	0.56140	0.1965	L	0.36672	1.1	0.44048	D	0.99678	B	0.20780	0.048	B	0.12837	0.008	T	0.39881	-0.9592	10	0.27082	T	0.32	.	17.2399	0.87010	0.0:0.0:1.0:0.0	.	344	Q9BY67	CADM1_HUMAN	N	344;344;344;18	ENSP00000395359:T344N;ENSP00000439817:T344N;ENSP00000329797:T344N	ENSP00000329797:T344N	T	-	2	0	CADM1	114585551	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.258000	0.72487	2.750000	0.94351	0.549000	0.68633	ACC		0.438	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		14	38	1	0	4.38e-07	7.3e-07	14	38				
DSCAML1	57453	broad.mit.edu	37	11	117303127	117303127	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:117303127G>C	ENST00000321322.6	-	30	5301	c.5300C>G	c.(5299-5301)cCa>cGa	p.P1767R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1497R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1707					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GATGAGGGTTGGGTGGTGCAA	0.577																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(5299-5301)CCA>CGA		Down syndrome cell adhesion molecule like 1							196.0	138.0	158.0					11																	117303127		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117303127G>C		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5300C>G	11.37:g.117303127G>C	ENSP00000315465:p.Pro1767Arg						p.P1767R	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	30	5302	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1707			Cytoplasmic (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.5300C>G	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.224509	0.39300	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60672	0.2;0.17	5.96	5.96	0.96718	.	.	.	.	.	T	0.43188	0.1236	N	0.08118	0	0.58432	D	0.999992	B	0.26845	0.161	B	0.29598	0.104	T	0.30563	-0.9974	9	0.34782	T	0.22	.	20.0112	0.97449	0.0:0.0:1.0:0.0	.	1707	Q8TD84	DSCL1_HUMAN	R	1497;1767;1474	ENSP00000434335:P1497R;ENSP00000315465:P1767R	ENSP00000315465:P1767R	P	-	2	0	DSCAML1	116808337	1.000000	0.71417	0.992000	0.48379	0.976000	0.68499	3.925000	0.56484	2.826000	0.97356	0.655000	0.94253	CCA		0.577	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		14	35	0	0	0	0	14	35				
DSCAML1	57453	broad.mit.edu	37	11	117332289	117332289	+	Missense_Mutation	SNP	C	C	A	rs142275732		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:117332289C>A	ENST00000321322.6	-	18	3470	c.3469G>T	c.(3469-3471)Gtc>Ttc	p.V1157F	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V887F	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1097	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGGCCCGGACGTTCTCAGGG	0.612																																						uc001prh.1		NA																	0				ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(3469-3471)GTC>TTC		Down syndrome cell adhesion molecule like 1							50.0	54.0	53.0					11																	117332289		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117332289C>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.3469G>T	11.37:g.117332289C>A	ENSP00000315465:p.Val1157Phe						p.V1157F	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	18	3471	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	1097			Fibronectin type-III 3.|Extracellular (Potential).		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.3469G>T	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.925881	0.92319	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.60299	0.2;0.2	4.9	4.9	0.64082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81118	0.4756	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85418	0.1141	9	0.87932	D	0	.	18.2786	0.90091	0.0:1.0:0.0:0.0	.	1097	Q8TD84	DSCL1_HUMAN	F	887;1157;864	ENSP00000434335:V887F;ENSP00000315465:V1157F	ENSP00000315465:V1157F	V	-	1	0	DSCAML1	116837499	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.932000	0.70121	2.547000	0.85894	0.655000	0.94253	GTC		0.612	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		17	47	1	0	2.46e-09	4.32e-09	17	47				
KMT2A	4297	broad.mit.edu	37	11	118347536	118347536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:118347536C>A	ENST00000389506.5	+	4	3173	c.3173C>A	c.(3172-3174)tCa>tAa	p.S1058*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.S1058*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.S1058*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1058					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.S1058*(1)									GAAAGTGACTCATCAGAGACC	0.438																																						uc001pta.2		NA								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		1	Substitution - Nonsense(1)		urinary_tract(1)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(3172-3174)TCA>TAA		myeloid/lymphoid or mixed-lineage leukemia							99.0	98.0	98.0					11																	118347536		2200	4296	6496	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118347536C>A	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3173C>A	11.37:g.118347536C>A	ENSP00000374157:p.Ser1058*					MLL_uc001ptb.2_Nonsense_Mutation_p.S1058*|MLL_uc001ptd.1_Nonsense_Mutation_p.S50*	p.S1058*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	4	3196	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1058					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.3173C>A	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	41	8.764426	0.98945	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000533790;ENST00000389507	.	.	.	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.1612	0.98133	0.0:1.0:0.0:0.0	.	.	.	.	X	1058;1091;1058;1058;136;78	.	ENSP00000346516:S1058X	S	+	2	0	MLL	117852746	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.205000	0.77881	2.771000	0.95319	0.655000	0.94253	TCA		0.438	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		21	62	1	0	4.63e-17	9.15e-17	21	62				
THY1	7070	broad.mit.edu	37	11	119290994	119290994	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:119290994G>T	ENST00000284240.5	-	3	1179	c.140C>A	c.(139-141)cCc>cAc	p.P47H	USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000528522.1_Missense_Mutation_p.P47H|THY1_ENST00000580275.1_Missense_Mutation_p.P30H|USP2-AS1_ENST00000500970.1_RNA|USP2-AS1_ENST00000498979.2_RNA|THY1_ENST00000527590.1_5'UTR|RP11-334E6.12_ENST00000578216.1_RNA|USP2-AS1_ENST00000578923.1_RNA	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	47	Ig-like V-type.				angiogenesis (GO:0001525)|cytoskeleton organization (GO:0007010)|focal adhesion assembly (GO:0048041)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of GTPase activity (GO:0043547)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell activation (GO:0050870)|retinal cone cell development (GO:0046549)|single organismal cell-cell adhesion (GO:0016337)|T cell receptor signaling pathway (GO:0050852)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|integrin binding (GO:0005178)|Rho GTPase activator activity (GO:0005100)	p.P47H(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GTACTGGATGGGTGAACTGCT	0.587																																						uc001pwq.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(139-141)CCC>CAC		Thy-1 cell surface antigen preproprotein							174.0	156.0	162.0					11																	119290994		2199	4295	6494	SO:0001583	missense	7070				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity	g.chr11:119290994G>T	M11749	CCDS8424.1	11q23.3	2013-01-14				ENSG00000154096		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11801	protein-coding gene	gene with protein product		188230				2864690	Standard	NM_006288		Approved	CD90	uc001pwr.3	P04216		ENST00000284240.5:c.140C>A	11.37:g.119290994G>T	ENSP00000284240:p.Pro47His					uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Missense_Mutation_p.P47H|THY1_uc001pws.2_RNA	p.P47H	NM_006288	NP_006279	P04216	THY1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)	2	174	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)	47			Ig-like V-type.		Q16008|Q9NSP1	Missense_Mutation	SNP	ENST00000284240.5	37	c.140C>A	CCDS8424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.55|17.55	3.417240|3.417240	0.62622|0.62622	.|.	.|.	ENSG00000154096|ENSG00000154096	ENST00000284240;ENST00000528522;ENST00000524970;ENST00000524659|ENST00000527590	T;T;T;T|.	0.23552|.	1.9;1.9;1.9;1.9|.	4.98|4.98	4.98|4.98	0.66077|0.66077	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);|.	0.189748|0.189748	0.45361|0.45361	D|D	0.000372|0.000372	T|T	0.75466|0.75466	0.3853|0.3853	M|M	0.77103|0.77103	2.36|2.36	0.37141|0.37141	D|D	0.901715|0.901715	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.80774|0.80774	-0.1232|-0.1232	10|7	0.87932|0.48119	D|T	0|0.1	-4.3749|-4.3749	15.3959|15.3959	0.74794|0.74794	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	47|.	P04216|.	THY1_HUMAN|.	H|T	47|55	ENSP00000284240:P47H;ENSP00000431301:P47H;ENSP00000432808:P47H;ENSP00000435753:P47H|.	ENSP00000284240:P47H|ENSP00000433689:P55T	P|P	-|-	2|1	0|0	THY1|THY1	118796204|118796204	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.589000|0.589000	0.36550|0.36550	4.400000|4.400000	0.59709|0.59709	2.302000|2.302000	0.77476|0.77476	0.591000|0.591000	0.81541|0.81541	CCC|CCA		0.587	THY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388370.2	NM_006288		38	96	1	0	1.5e-21	3.06e-21	38	96				
POU2F3	25833	broad.mit.edu	37	11	120180221	120180221	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:120180221C>A	ENST00000543440.2	+	10	1144	c.994C>A	c.(994-996)Cga>Aga	p.R332R	POU2F3_ENST00000260264.4_Silent_p.R334R	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	332					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding (GO:0043565)	p.R332*(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GTTCTGCAACCGACGCCAAAA	0.557																																						uc001pxc.2		NA																	1	Substitution - Nonsense(1)	p.R332*(1)	ovary(1)	ovary(1)|skin(1)	2						c.(994-996)CGA>AGA		POU transcription factor							125.0	93.0	104.0					11																	120180221		2203	4299	6502	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120180221C>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.994C>A	11.37:g.120180221C>A						POU2F3_uc010rzk.1_Silent_p.R286R|POU2F3_uc010rzl.1_Silent_p.R262R|POU2F3_uc001pxe.1_Silent_p.R117R	p.R332R	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	10	1096	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	332			Homeobox.		A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	c.994C>A	CCDS8431.1																																																																																				0.557	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			19	41	1	0	1.34e-09	2.36e-09	19	41				
TECTA	7007	broad.mit.edu	37	11	120998532	120998532	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:120998532G>T	ENST00000392793.1	+	9	2117	c.1846G>T	c.(1846-1848)Gac>Tac	p.D616Y	TECTA_ENST00000264037.2_Missense_Mutation_p.D616Y			O75443	TECTA_HUMAN	tectorin alpha	616	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CACATGCTCCGACCTGACGGC	0.642																																						uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(1846-1848)GAC>TAC		tectorin alpha precursor							66.0	66.0	66.0					11																	120998532		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:120998532G>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1846G>T	11.37:g.120998532G>T	ENSP00000376543:p.Asp616Tyr						p.D616Y	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	8	1846	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	616			TIL 1.			Missense_Mutation	SNP	ENST00000392793.1	37	c.1846G>T	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790891	0.90367	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.91295	-2.82;-2.82	5.52	5.52	0.82312	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.000000	0.85682	D	0.000000	D	0.96555	0.8876	M	0.91717	3.235	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.96722	0.9533	10	0.66056	D	0.02	.	19.8087	0.96539	0.0:0.0:1.0:0.0	.	616	O75443	TECTA_HUMAN	Y	616	ENSP00000376543:D616Y;ENSP00000264037:D616Y	ENSP00000264037:D616Y	D	+	1	0	TECTA	120503742	1.000000	0.71417	0.949000	0.38748	0.955000	0.61496	7.642000	0.83385	2.757000	0.94681	0.655000	0.94253	GAC		0.642	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		26	70	1	0	1.55e-18	3.12e-18	26	70				
SORL1	6653	broad.mit.edu	37	11	121495940	121495940	+	Missense_Mutation	SNP	G	G	C	rs149393026	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:121495940G>C	ENST00000260197.7	+	46	6447	c.6318G>C	c.(6316-6318)caG>caC	p.Q2106H	SORL1_ENST00000534286.1_Missense_Mutation_p.Q1016H|SORL1_ENST00000532694.1_Missense_Mutation_p.Q952H|SORL1_ENST00000525532.1_Missense_Mutation_p.Q1050H|SORL1_ENST00000527934.1_Missense_Mutation_p.Q721H	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2106	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTGGCAACCAGATCTGTGGGG	0.468																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(6316-6318)CAG>CAC		sortilin-related receptor containing LDLR class							140.0	120.0	126.0					11																	121495940		2202	4299	6501	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121495940G>C	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.6318G>C	11.37:g.121495940G>C	ENSP00000260197:p.Gln2106His					SORL1_uc010rzp.1_Missense_Mutation_p.Q952H|SORL1_uc010rzq.1_Missense_Mutation_p.Q721H	p.Q2106H	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	46	6398	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	2106			Extracellular (Potential).|Fibronectin type-III 6.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.6318G>C	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.167146	0.78339	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.32	5.32	0.75619	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.243967	0.42294	D	0.000737	T	0.50548	0.1622	N	0.14661	0.345	0.51767	D	0.999938	D;D	0.71674	0.998;0.998	D;D	0.79784	0.99;0.993	T	0.56529	-0.7964	10	0.72032	D	0.01	.	12.3621	0.55209	0.077:0.0:0.923:0.0	.	721;2106	E9PKB0;Q92673	.;SORL_HUMAN	H	2106;1050;952;1016;721	ENSP00000260197:Q2106H;ENSP00000434634:Q1050H;ENSP00000432131:Q952H;ENSP00000436447:Q1016H;ENSP00000435405:Q721H	ENSP00000260197:Q2106H	Q	+	3	2	SORL1	121001150	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.406000	0.80017	2.476000	0.83614	0.655000	0.94253	CAG		0.468	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		23	70	0	0	0	0	23	70				
OR6X1	390260	broad.mit.edu	37	11	123624645	123624645	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:123624645T>A	ENST00000327930.2	-	1	608	c.582A>T	c.(580-582)gaA>gaT	p.E194D		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CGCCCAGGAGTTCCAAAATGC	0.438																																						uc010rzy.1		NA																	0				ovary(2)|skin(1)	3						c.(580-582)GAA>GAT		olfactory receptor, family 6, subfamily X,							90.0	92.0	92.0					11																	123624645		2202	4299	6501	SO:0001583	missense	390260				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123624645T>A	AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.582A>T	11.37:g.123624645T>A	ENSP00000333724:p.Glu194Asp						p.E194D	NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	582	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	194			Extracellular (Potential).		B9EGW9|Q6IFA0	Missense_Mutation	SNP	ENST00000327930.2	37	c.582A>T	CCDS31695.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477235	0.44044	.	.	ENSG00000221931	ENST00000327930	T	0.00249	8.44	4.37	-1.76	0.08006	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00412	0.0013	M	0.74467	2.265	0.09310	N	1	D	0.61080	0.989	P	0.62298	0.9	T	0.41466	-0.9507	9	0.66056	D	0.02	-11.2322	9.8036	0.40779	0.0:0.5302:0.0:0.4698	.	194	Q8NH79	OR6X1_HUMAN	D	194	ENSP00000333724:E194D	ENSP00000333724:E194D	E	-	3	2	OR6X1	123129855	0.000000	0.05858	0.043000	0.18650	0.744000	0.42396	-0.473000	0.06615	-0.226000	0.09899	-0.263000	0.10527	GAA		0.438	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387436.1	NM_001005188		28	70	0	0	0	0	28	70				
OR8B3	390271	broad.mit.edu	37	11	124266529	124266529	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:124266529G>A	ENST00000354597.3	-	1	735	c.719C>T	c.(718-720)aCt>aTt	p.T240I		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	240						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(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAGCTACAAGTACTGAAGGC	0.383																																						uc010saj.1		NA																	0				ovary(1)|skin(1)	2						c.(718-720)ACT>ATT		olfactory receptor, family 8, subfamily B,							55.0	62.0	60.0					11																	124266529		2195	4279	6474	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266529G>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.719C>T	11.37:g.124266529G>A	ENSP00000346611:p.Thr240Ile					OR8B2_uc001qab.3_Intron	p.T240I	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	719	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	240			Helical; Name=6; (Potential).		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.719C>T	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	11.93	1.784217	0.31593	.	.	ENSG00000196661	ENST00000354597	T	0.42513	0.97	3.92	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.69061	0.3069	H	0.95260	3.645	0.38024	D	0.93495	D	0.76494	0.999	D	0.85130	0.997	T	0.72747	-0.4200	10	0.87932	D	0	.	6.8341	0.23927	0.165:0.0:0.6902:0.1448	.	240	Q8NGG8	OR8B3_HUMAN	I	240	ENSP00000346611:T240I	ENSP00000346611:T240I	T	-	2	0	OR8B3	123771739	1.000000	0.71417	0.888000	0.34837	0.183000	0.23260	5.795000	0.69074	0.593000	0.29745	0.650000	0.86243	ACT		0.383	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		24	92	0	0	0	0	24	92				
OR8B8	26493	broad.mit.edu	37	11	124310451	124310451	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:124310451G>A	ENST00000328064.2	-	1	603	c.531C>T	c.(529-531)taC>taT	p.Y177Y		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	177					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGTCACACATGTAGTGGTTGA	0.502																																						uc010sal.1		NA																	0				ovary(1)	1						c.(529-531)TAC>TAT		olfactory receptor, family 8, subfamily B,							169.0	135.0	146.0					11																	124310451		2201	4299	6500	SO:0001819	synonymous_variant	26493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124310451G>A	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.531C>T	11.37:g.124310451G>A							p.Y177Y	NM_012378	NP_036510	Q15620	OR8B8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	531	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	177			Extracellular (Potential).		A1L446|Q96RC8	Silent	SNP	ENST00000328064.2	37	c.531C>T	CCDS8446.1																																																																																				0.502	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378		26	54	0	0	0	0	26	54				
ROBO4	54538	broad.mit.edu	37	11	124756439	124756439	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:124756439G>C	ENST00000306534.3	-	16	3200	c.2715C>G	c.(2713-2715)caC>caG	p.H905Q	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.H760Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	905					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CCCGGGCAAAGTGAGCATCAG	0.602																																						uc001qbg.2		NA																	0				ovary(1)|skin(1)	2						c.(2713-2715)CAC>CAG		roundabout homolog 4, magic roundabout							46.0	49.0	48.0					11																	124756439		2201	4299	6500	SO:0001583	missense	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124756439G>C	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2715C>G	11.37:g.124756439G>C	ENSP00000304945:p.His905Gln					ROBO4_uc010sas.1_Missense_Mutation_p.H760Q|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.2_Missense_Mutation_p.H463Q	p.H905Q	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	16	2855	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	905					A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	c.2715C>G	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156466	0.57259	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	T;T	0.63744	-0.06;0.31	4.94	4.94	0.65067	.	0.000000	0.38381	N	0.001717	T	0.56455	0.1986	M	0.63428	1.95	0.30955	N	0.724291	P;P	0.44195	0.744;0.828	B;B	0.36289	0.211;0.221	T	0.69015	-0.5257	10	0.59425	D	0.04	.	12.9457	0.58371	0.0782:0.0:0.9218:0.0	.	905;905	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	Q	905;760	ENSP00000304945:H905Q;ENSP00000437129:H760Q	ENSP00000304945:H905Q	H	-	3	2	ROBO4	124261649	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.357000	0.44125	2.435000	0.82474	0.655000	0.94253	CAC		0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		13	51	0	0	0	0	13	51				
ROBO4	54538	broad.mit.edu	37	11	124765699	124765699	+	Silent	SNP	C	C	G	rs143848676	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:124765699C>G	ENST00000306534.3	-	5	1274	c.789G>C	c.(787-789)gcG>gcC	p.A263A	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Silent_p.A118A	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	263	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TGAGCCACACCGCCGGTCTAG	0.597																																						uc001qbg.2		NA																	0				ovary(1)|skin(1)	2						c.(787-789)GCG>GCC		roundabout homolog 4, magic roundabout							68.0	70.0	69.0					11																	124765699		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124765699C>G	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.789G>C	11.37:g.124765699C>G						ROBO4_uc010sas.1_Silent_p.A118A|ROBO4_uc001qbh.2_Silent_p.A153A|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	p.A263A	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	5	929	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	263			Fibronectin type-III 1.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.789G>C	CCDS8455.1																																																																																				0.597	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		36	46	0	0	0	0	36	46				
SNX19	399979	broad.mit.edu	37	11	130773227	130773227	+	Silent	SNP	T	T	C	rs138603150		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:130773227T>C	ENST00000265909.4	-	8	3065	c.2496A>G	c.(2494-2496)ctA>ctG	p.L832L	SNX19_ENST00000539184.1_Silent_p.L275L|SNX19_ENST00000530356.1_Silent_p.L212L|SNX19_ENST00000528555.1_Silent_p.L212L|SNX19_ENST00000534726.1_Silent_p.L72L|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Silent_p.L72L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	832					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACTGTTCTGTTAGTAGCAAGA	0.448																																						uc001qgk.3		NA																	0				ovary(2)|lung(2)	4						c.(2494-2496)CTA>CTG		sorting nexin 19							130.0	113.0	119.0					11																	130773227		2201	4297	6498	SO:0001819	synonymous_variant	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130773227T>C	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2496A>G	11.37:g.130773227T>C						SNX19_uc009zcw.2_Silent_p.L69L|SNX19_uc010sce.1_Silent_p.L212L|SNX19_uc010scf.1_Silent_p.L275L|SNX19_uc010scg.1_Silent_p.L69L	p.L832L	NM_014758	NP_055573	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	8	3044	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	832					E9PKB9|Q8IV55	Silent	SNP	ENST00000265909.4	37	c.2496A>G	CCDS31721.1																																																																																				0.448	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		12	34	0	0	0	0	12	34				
IGSF9B	22997	broad.mit.edu	37	11	133794770	133794770	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:133794770G>T	ENST00000321016.8	-	15	2294	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	IGSF9B_ENST00000533871.2_Silent_p.A688A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	688	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.A688A(1)|p.A144A(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCTGCATGACGGCCAGAACCC	0.577																																						uc001qgx.3		NA																	2	Substitution - coding silent(2)		kidney(2)		0						c.(2062-2064)GCC>GCA		immunoglobulin superfamily, member 9B							110.0	120.0	117.0					11																	133794770		2100	4220	6320	SO:0001819	synonymous_variant	22997					integral to membrane|plasma membrane		g.chr11:133794770G>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2064C>A	11.37:g.133794770G>T						IGSF9B_uc001qgy.1_Silent_p.A530A	p.A688A	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	15	2295	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	688			Fibronectin type-III 2.|Extracellular (Potential).		G5EA26	Silent	SNP	ENST00000321016.8	37	c.2064C>A																																																																																					0.577	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		37	134	1	0	3.09e-21	6.31e-21	37	134				
WNT5B	81029	broad.mit.edu	37	12	1755062	1755062	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:1755062G>T	ENST00000397196.2	+	5	956	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	WNT5B_ENST00000542408.1_3'UTR|WNT5B_ENST00000537031.1_Missense_Mutation_p.G242W|WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000310594.3_Missense_Mutation_p.G242W	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	242					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CCGCAAGGTCGGGGACCGGCT	0.662																																						uc009zdq.2		NA																	0				skin(1)	1						c.(724-726)GGG>TGG		wingless-type MMTV integration site family,							30.0	34.0	33.0					12																	1755062		2200	4298	6498	SO:0001583	missense	81029				angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	g.chr12:1755062G>T	AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.724G>T	12.37:g.1755062G>T	ENSP00000380379:p.Gly242Trp					WNT5B_uc001qjj.2_Missense_Mutation_p.G242W|WNT5B_uc001qjk.2_Missense_Mutation_p.G242W|WNT5B_uc001qjl.2_Missense_Mutation_p.G242W	p.G242W	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00109)		5	966	+	Ovarian(42;0.107)		242					A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	c.724G>T	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784519	0.90282	.	.	ENSG00000111186	ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.94598	0.8259	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96807	0.9594	10	0.87932	D	0	.	18.8	0.92013	0.0:0.0:1.0:0.0	.	242	Q9H1J7	WNT5B_HUMAN	W	242	ENSP00000439312:G242W;ENSP00000308887:G242W;ENSP00000380379:G242W;ENSP00000442348:G242W	ENSP00000308887:G242W	G	+	1	0	WNT5B	1625323	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.648000	0.98483	2.668000	0.90789	0.650000	0.86243	GGG		0.662	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			28	50	1	0	6.13e-19	1.24e-18	28	50				
CD163	9332	broad.mit.edu	37	12	7653975	7653975	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:7653975C>G	ENST00000359156.4	-	3	419	c.217G>C	c.(217-219)Gga>Cga	p.G73R	CD163_ENST00000396620.3_Missense_Mutation_p.G73R|CD163_ENST00000432237.2_Missense_Mutation_p.G73R|CD163_ENST00000541972.1_Missense_Mutation_p.G61R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	73	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CACACCGTTCCCCACTCCTCC	0.502																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(217-219)GGA>CGA		CD163 antigen isoform a							167.0	152.0	157.0					12																	7653975		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7653975C>G	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.217G>C	12.37:g.7653975C>G	ENSP00000352071:p.Gly73Arg					CD163_uc001qta.3_Missense_Mutation_p.G73R|CD163_uc009zfw.2_Missense_Mutation_p.G73R	p.G73R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			3	345	-			73			SRCR 1.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.217G>C	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187897	0.78789	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.15	5.15	0.70609	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.64402	D	0.000009	T	0.73040	0.3536	H	0.94423	3.535	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.75709	-0.3223	10	0.27785	T	0.31	.	16.9175	0.86155	0.0:1.0:0.0:0.0	.	73;73;73	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	73;61;73;73	ENSP00000352071:G73R;ENSP00000444071:G61R;ENSP00000379863:G73R;ENSP00000403885:G73R	ENSP00000352071:G73R	G	-	1	0	CD163	7545242	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.773000	0.62331	2.780000	0.95670	0.655000	0.94253	GGA		0.502	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		36	95	0	0	0	0	36	95				
RIMKLB	57494	broad.mit.edu	37	12	8866600	8866600	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:8866600G>T	ENST00000538135.1	+	2	963	c.138G>T	c.(136-138)atG>atT	p.M46I	RIMKLB_ENST00000357529.3_Missense_Mutation_p.M46I|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000535829.1_Missense_Mutation_p.M46I			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	46					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTGTGGTGATGGATGAGGTGG	0.428																																						uc001quu.2		NA																	0					0						c.(136-138)ATG>ATT		ribosomal modification protein rimK-like family							124.0	132.0	129.0					12																	8866600		2028	4159	6187	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8866600G>T	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.138G>T	12.37:g.8866600G>T	ENSP00000440943:p.Met46Ile					RIMKLB_uc009zgf.1_RNA|RIMKLB_uc001qux.2_Missense_Mutation_p.M46I|RIMKLB_uc010sgl.1_Missense_Mutation_p.M46I|RIMKLB_uc001quw.2_Missense_Mutation_p.M46I	p.M46I	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			2	389	+			46					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.138G>T	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120133	0.56613	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.64	4.75	0.60458	.	0.000000	0.85682	U	0.000000	T	0.51041	0.1651	L	0.55481	1.735	0.52099	D	0.999948	B;B	0.30236	0.274;0.085	B;B	0.30179	0.112;0.017	T	0.45190	-0.9278	9	0.21014	T	0.42	.	12.8719	0.57970	0.0783:0.0:0.9217:0.0	.	46;46	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	I	46;46;107;46;46;46	.	ENSP00000350136:M46I	M	+	3	0	RIMKLB	8757867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.791000	0.55469	1.386000	0.46466	0.650000	0.86243	ATG		0.428	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		17	26	1	0	5.01e-05	7.78e-05	17	26				
PRH1	5554	broad.mit.edu	37	12	11034876	11034876	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:11034876C>A	ENST00000428168.2	-	4	496	c.459G>T	c.(457-459)ggG>ggT	p.G153G	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	153						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GTGGGCGGCCCCCTTGGGGAG	0.587																																						uc001qzc.2		NA																	0					0						c.(457-459)GGG>GGT		proline-rich protein HaeIII subfamily 1							59.0	69.0	65.0					12																	11034876		2202	4294	6496	SO:0001819	synonymous_variant	5554					extracellular space	protein binding	g.chr12:11034876C>A			12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.459G>T	12.37:g.11034876C>A						PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_RNA|PRB4_uc001qzf.1_Intron	p.G153G	NM_006250	NP_006241	P02810	PRPC_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.245)	8	1047	-			153					A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	ENST00000428168.2	37	c.459G>T																																																																																					0.587	PRH1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006250		32	107	1	0	4.76e-42	1.01e-41	32	107				
GUCY2C	2984	broad.mit.edu	37	12	14796620	14796620	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:14796620G>T	ENST00000261170.3	-	17	1954	c.1818C>A	c.(1816-1818)tcC>tcA	p.S606S		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	606	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTGTCTTACTGGAGTGCAGAT	0.373																																						uc001rcd.2		NA																	0				ovary(4)|skin(2)	6						c.(1816-1818)TCC>TCA		guanylate cyclase 2C precursor							143.0	138.0	140.0					12																	14796620		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14796620G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1818C>A	12.37:g.14796620G>T							p.S606S	NM_004963	NP_004954	P25092	GUC2C_HUMAN			17	1955	-			606			Cytoplasmic (Potential).|Protein kinase.		B2RMY6	Silent	SNP	ENST00000261170.3	37	c.1818C>A	CCDS8664.1																																																																																				0.373	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			20	89	1	0	2.38e-13	4.46e-13	20	89				
PIK3C2G	5288	broad.mit.edu	37	12	18435606	18435606	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:18435606T>C	ENST00000266497.5	+	1	629	c.591T>C	c.(589-591)caT>caC	p.H197H	PIK3C2G_ENST00000538779.1_Silent_p.H197H|PIK3C2G_ENST00000433979.1_Silent_p.H197H|PIK3C2G_ENST00000535651.1_Silent_p.H197H|RERGL_ENST00000541632.1_Intron			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	197					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)				GGAGTGGACATGTGAACATTG	0.383																																						uc001rdt.2		NA																	0		p.H197L(1)		lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21						c.(589-591)CAT>CAC		phosphoinositide-3-kinase, class 2 gamma							142.0	136.0	138.0					12																	18435606		1859	4107	5966	SO:0001819	synonymous_variant	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.chr12:18435606T>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.591T>C	12.37:g.18435606T>C						PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Silent_p.H197H|PIK3C2G_uc010sic.1_5'UTR	p.H197H	NM_004570	NP_004561	O75747	P3C2G_HUMAN			2	707	+		Hepatocellular(102;0.194)	197					A1L3U0	Silent	SNP	ENST00000266497.5	37	c.591T>C	CCDS44839.1																																																																																				0.383	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		48	130	0	0	0	0	48	130				
SLCO1B1	10599	broad.mit.edu	37	12	21349914	21349914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:21349914G>A	ENST00000256958.2	+	8	858	c.762G>A	c.(760-762)tgG>tgA	p.W254*		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	254					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ATTCTCGATGGGTTGGAGCTT	0.358																																						uc001req.3		NA																	0				ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8						c.(760-762)TGG>TGA		solute carrier organic anion transporter family,	Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)						222.0	203.0	210.0					12																	21349914		2203	4300	6503	SO:0001587	stop_gained	10599				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	g.chr12:21349914G>A		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.762G>A	12.37:g.21349914G>A	ENSP00000256958:p.Trp254*						p.W254*	NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN			8	866	+			254			Extracellular (Potential).		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Nonsense_Mutation	SNP	ENST00000256958.2	37	c.762G>A	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831140	0.71258	.	.	ENSG00000134538	ENST00000256958	.	.	.	3.24	3.24	0.37175	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7505	0.57306	0.0:0.0:1.0:0.0	.	.	.	.	X	254	.	ENSP00000256958:W254X	W	+	3	0	SLCO1B1	21241181	1.000000	0.71417	0.998000	0.56505	0.357000	0.29423	7.302000	0.78861	1.797000	0.52628	0.491000	0.48974	TGG		0.358	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446		40	96	0	0	0	0	40	96				
C2CD5	9847	broad.mit.edu	37	12	22680700	22680700	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:22680700C>A	ENST00000333957.4	-	4	559	c.304G>T	c.(304-306)Gca>Tca	p.A102S	C2CD5_ENST00000545552.1_Missense_Mutation_p.A102S|C2CD5_ENST00000396028.2_Missense_Mutation_p.A102S|C2CD5_ENST00000446597.1_Missense_Mutation_p.A102S|C2CD5_ENST00000540703.1_5'Flank|C2CD5_ENST00000536386.1_Missense_Mutation_p.A102S|C2CD5_ENST00000544930.1_5'UTR|C2CD5_ENST00000542676.1_Missense_Mutation_p.A102S	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	102					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										ATGACTGTTGCAGCTTCACTA	0.323																																						uc001rfq.2		NA																	0				ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						c.(304-306)GCA>TCA		hypothetical protein LOC9847							173.0	155.0	161.0					12																	22680700		2203	4300	6503	SO:0001583	missense	9847						protein binding	g.chr12:22680700C>A	AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.304G>T	12.37:g.22680700C>A	ENSP00000334229:p.Ala102Ser					KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.A102S|KIAA0528_uc010sit.1_Missense_Mutation_p.A102S|KIAA0528_uc010siu.1_Missense_Mutation_p.A102S|KIAA0528_uc001rfr.2_Missense_Mutation_p.A102S|KIAA0528_uc009ziy.1_Missense_Mutation_p.A102S	p.A102S	NM_014802	NP_055617	Q86YS7	K0528_HUMAN			4	532	-			102					B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	c.304G>T	CCDS31758.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572305	0.45798	.	.	ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552	T;T;T;T;T;T	0.63580	-0.03;-0.02;-0.05;-0.03;-0.02;-0.03	5.59	5.59	0.84812	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.63745	0.2537	N	0.14661	0.345	0.80722	D	1	B;B;B;D;B	0.76494	0.178;0.069;0.112;0.999;0.069	B;B;B;D;B	0.71184	0.113;0.024;0.082;0.972;0.024	T	0.57533	-0.7795	10	0.10377	T	0.69	-22.7652	19.5963	0.95541	0.0:1.0:0.0:0.0	.	102;102;102;102;102	F5H2A1;B4DRN7;B7ZLL0;Q86YS7-2;Q86YS7	.;.;.;.;K0528_HUMAN	S	102	ENSP00000334229:A102S;ENSP00000388756:A102S;ENSP00000439392:A102S;ENSP00000379345:A102S;ENSP00000441951:A102S;ENSP00000443204:A102S	ENSP00000334229:A102S	A	-	1	0	KIAA0528	22571967	1.000000	0.71417	0.970000	0.41538	0.984000	0.73092	7.805000	0.86005	2.648000	0.89879	0.561000	0.74099	GCA		0.323	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802		23	67	1	0	2.8e-10	5.02e-10	23	67				
OVCH1	341350	broad.mit.edu	37	12	29631793	29631793	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:29631793T>C	ENST00000318184.5	-	9	1043	c.1044A>G	c.(1042-1044)ttA>ttG	p.L348L	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	348	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGCTTGATCGTAAAGATACAT	0.303																																						uc001rix.1		NA																	0				ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1)	10						c.(1042-1044)TTA>TTG		ovochymase 1 precursor							103.0	95.0	97.0					12																	29631793		1831	4082	5913	SO:0001819	synonymous_variant	341350				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	g.chr12:29631793T>C	BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1044A>G	12.37:g.29631793T>C							p.L348L	NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN			9	1044	-	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)		348			CUB 1.			Silent	SNP	ENST00000318184.5	37	c.1044A>G																																																																																					0.303	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		8	25	0	0	0	0	8	25				
LRRK2	120892	broad.mit.edu	37	12	40692113	40692113	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:40692113G>C	ENST00000298910.7	+	24	3223	c.3165G>C	c.(3163-3165)ttG>ttC	p.L1055F	LRRK2_ENST00000343742.2_Missense_Mutation_p.L1055F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1055					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)				CTTATTTGTTGAAAATGAGTT	0.333																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(3163-3165)TTG>TTC		leucine-rich repeat kinase 2							129.0	126.0	127.0					12																	40692113		2203	4300	6503	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.chr12:40692113G>C	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.3165G>C	12.37:g.40692113G>C	ENSP00000298910:p.Leu1055Phe					LRRK2_uc001rmh.1_Missense_Mutation_p.L677F|LRRK2_uc009zjw.2_5'UTR	p.L1055F	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			24	3286	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1055			LRR 3.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.3165G>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447975	0.63178	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.24538	2.22;1.85	5.74	4.81	0.61882	.	0.157009	0.43919	D	0.000512	T	0.34308	0.0893	L	0.31420	0.93	0.58432	D	0.999995	P;D	0.89917	0.89;1.0	B;D	0.78314	0.354;0.991	T	0.01743	-1.1283	10	0.37606	T	0.19	.	9.6028	0.39615	0.0709:0.0:0.7871:0.142	.	1055;1055	E9PC85;Q5S007	.;LRRK2_HUMAN	F	1055	ENSP00000341930:L1055F;ENSP00000298910:L1055F	ENSP00000298910:L1055F	L	+	3	2	LRRK2	38978380	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.315000	0.51951	2.696000	0.92011	0.655000	0.94253	TTG		0.333	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		15	41	0	0	0	0	15	41				
DBX2	440097	broad.mit.edu	37	12	45429829	45429829	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:45429829G>C	ENST00000332700.6	-	2	643	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	158					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		gatgcagggcgccgacaggac	0.493																																						uc001rok.1		NA																	0					0						c.(472-474)CGC>GGC		developing brain homeobox 2							69.0	72.0	71.0					12																	45429829		2203	4300	6503	SO:0001583	missense	440097					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:45429829G>C		CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.472C>G	12.37:g.45429829G>C	ENSP00000331470:p.Arg158Gly						p.R158G	NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN		GBM - Glioblastoma multiforme(48;0.0515)	2	644	-	Lung SC(27;0.192)	Lung NSC(34;0.142)	158						Missense_Mutation	SNP	ENST00000332700.6	37	c.472C>G	CCDS31781.1	.	.	.	.	.	.	.	.	.	.	G	3.969	-0.008781	0.07727	.	.	ENSG00000185610	ENST00000332700	D	0.91011	-2.77	5.95	4.1	0.47936	.	0.308323	0.28476	N	0.015211	T	0.81039	0.4740	N	0.24115	0.695	0.33153	D	0.545932	P	0.48162	0.906	B	0.37346	0.247	T	0.81424	-0.0939	10	0.23891	T	0.37	-1.8236	11.192	0.48690	0.066:0.0:0.8055:0.1284	.	158	Q6ZNG2	DBX2_HUMAN	G	158	ENSP00000331470:R158G	ENSP00000331470:R158G	R	-	1	0	DBX2	43716096	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	4.007000	0.57093	0.824000	0.34613	-0.140000	0.14226	CGC		0.493	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404810.1	NM_001004329		6	13	0	0	0	0	6	13				
KMT2D	8085	broad.mit.edu	37	12	49438025	49438025	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:49438025C>A	ENST00000301067.7	-	21	5145	c.5146G>T	c.(5146-5148)Gca>Tca	p.A1716S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1716					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TCCGCCTGTGCAGCAGGCCCC	0.617											OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5146-5148)GCA>TCA		myeloid/lymphoid or mixed-lineage leukemia 2							49.0	57.0	54.0					12																	49438025		2120	4241	6361	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49438025C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.5146G>T	12.37:g.49438025C>A	ENSP00000301067:p.Ala1716Ser	HNSCC(34;0.089)	OREG0021780	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	962		p.A1716S	NM_003482	NP_003473	O14686	MLL2_HUMAN			21	5146	-			1716					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.5146G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278591	0.59758	.	.	ENSG00000167548	ENST00000301067	T	0.80214	-1.35	4.82	4.82	0.62117	.	0.000000	0.35124	N	0.003424	T	0.78214	0.4248	L	0.29908	0.895	0.47819	D	0.999523	D	0.62365	0.991	P	0.49387	0.609	T	0.82032	-0.0658	10	0.87932	D	0	.	16.8327	0.85949	0.0:1.0:0.0:0.0	.	1716	O14686	MLL2_HUMAN	S	1716	ENSP00000301067:A1716S	ENSP00000301067:A1716S	A	-	1	0	MLL2	47724292	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	4.152000	0.58111	2.498000	0.84270	0.563000	0.77884	GCA		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			10	24	1	0	7.48e-07	1.24e-06	10	24				
KMT2D	8085	broad.mit.edu	37	12	49447314	49447314	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:49447314C>T	ENST00000301067.7	-	6	783	c.784G>A	c.(784-786)Gcc>Acc	p.A262T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	262	Cys-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L260fs*8(1)									CGTTTGCGGGCAGTCAGAGCA	0.582																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		1	Deletion - Frameshift(1)		haematopoietic_and_lymphoid_tissue(1)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(784-786)GCC>ACC		myeloid/lymphoid or mixed-lineage leukemia 2							31.0	33.0	33.0					12																	49447314		2060	4201	6261	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49447314C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.784G>A	12.37:g.49447314C>T	ENSP00000301067:p.Ala262Thr	HNSCC(34;0.089)					p.A262T	NM_003482	NP_003473	O14686	MLL2_HUMAN			6	784	-			262			Cys-rich.|PHD-type 1.|RING-type 1; atypical.		O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.784G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070910	0.36566	.	.	ENSG00000167548	ENST00000301067	D	0.87412	-2.25	5.05	5.05	0.67936	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.35013	N	0.003511	T	0.81153	0.4763	L	0.35644	1.08	0.29663	N	0.843086	B	0.30824	0.296	B	0.28553	0.091	T	0.80350	-0.1419	10	0.87932	D	0	.	12.3185	0.54971	0.0:0.7089:0.2911:0.0	.	262	O14686	MLL2_HUMAN	T	262	ENSP00000301067:A262T	ENSP00000301067:A262T	A	-	1	0	MLL2	47733581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.673000	0.61604	2.340000	0.79590	0.561000	0.74099	GCC		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			5	11	0	0	0	0	5	11				
NCKAP5L	57701	broad.mit.edu	37	12	50186272	50186272	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:50186272A>G	ENST00000335999.6	-	12	3950	c.3749T>C	c.(3748-3750)aTg>aCg	p.M1250T		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1246	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGTGGGCACATGAGAGGGTC	0.632																																						uc009zlk.2		NA																	0				central_nervous_system(1)	1						c.(3748-3750)ATG>ACG		NCK-associated protein 5-like							38.0	44.0	42.0					12																	50186272		1912	4124	6036	SO:0001583	missense	57701							g.chr12:50186272A>G	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.3749T>C	12.37:g.50186272A>G	ENSP00000337998:p.Met1250Thr					NCKAP5L_uc001rvc.3_Missense_Mutation_p.M454T|NCKAP5L_uc001rvb.2_Missense_Mutation_p.M843T	p.M1250T	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			12	3951	-			1246			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.3749T>C	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	A	11.50	1.658688	0.29515	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	T	0.41758	0.99	5.15	5.15	0.70609	.	0.201894	0.24833	N	0.035240	T	0.23688	0.0573	N	0.08118	0	0.21604	N	0.999626	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.13845	-1.0494	10	0.51188	T	0.08	-8.8082	10.4499	0.44516	0.8366:0.1634:0.0:0.0	.	1224;1246;1246	E2QRB5;Q9HCH0;Q9HCH0-2	.;NCK5L_HUMAN;.	T	1250;1224	ENSP00000337998:M1250T	ENSP00000337998:M1250T	M	-	2	0	NCKAP5L	48472539	0.989000	0.36119	0.999000	0.59377	0.886000	0.51366	2.866000	0.48420	2.096000	0.63516	0.459000	0.35465	ATG		0.632	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		8	27	0	0	0	0	8	27				
LARP4	113251	broad.mit.edu	37	12	50847384	50847384	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:50847384C>G	ENST00000398473.2	+	9	1058	c.946C>G	c.(946-948)Cag>Gag	p.Q316E	LARP4_ENST00000347328.5_Intron|LARP4_ENST00000293618.8_Missense_Mutation_p.Q316E|LARP4_ENST00000518561.1_Missense_Mutation_p.Q246E|LARP4_ENST00000518444.1_Missense_Mutation_p.Q315E|LARP4_ENST00000522085.1_Missense_Mutation_p.Q316E|LARP4_ENST00000429001.3_Missense_Mutation_p.Q322E	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	316					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TCCTCACCAACAGTACTCGGT	0.393																																						uc001rwp.1		NA																	0				ovary(1)	1						c.(946-948)CAG>GAG		c-Mpl binding protein isoform a							213.0	185.0	194.0					12																	50847384		1923	4137	6060	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50847384C>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.946C>G	12.37:g.50847384C>G	ENSP00000381490:p.Gln316Glu					LARP4_uc001rwo.1_Missense_Mutation_p.Q322E|LARP4_uc001rwq.1_Intron|LARP4_uc001rwr.1_Missense_Mutation_p.Q316E|LARP4_uc001rws.1_Missense_Mutation_p.Q315E|LARP4_uc009zlr.1_Missense_Mutation_p.Q135E|LARP4_uc001rwt.1_Intron|LARP4_uc001rwm.2_Missense_Mutation_p.Q316E|LARP4_uc001rwn.2_Missense_Mutation_p.Q246E	p.Q316E	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			9	1090	+			316					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.946C>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250816	0.80135	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.54615	0.1869	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D	0.76494	0.998;0.996;0.974;0.997;0.999	D;D;D;D;D	0.87578	0.998;0.977;0.969;0.997;0.972	T	0.58640	-0.7601	10	0.46703	T	0.11	.	16.7276	0.85427	0.0:1.0:0.0:0.0	.	217;315;316;316;322	Q71RC2-2;Q71RC2-3;G3XAA8;Q71RC2;Q71RC2-4	.;.;.;LARP4_HUMAN;.	E	316;322;316;316;316;315;246;217	ENSP00000293618:Q316E;ENSP00000415464:Q322E;ENSP00000381490:Q316E;ENSP00000429781:Q316E;ENSP00000429077:Q315E;ENSP00000430851:Q246E	ENSP00000293618:Q316E	Q	+	1	0	LARP4	49133651	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	7.282000	0.78630	2.124000	0.65301	0.313000	0.20887	CAG		0.393	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		27	81	0	0	0	0	27	81				
ATF1	466	broad.mit.edu	37	12	51213453	51213453	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:51213453A>G	ENST00000262053.3	+	7	729	c.707A>G	c.(706-708)gAa>gGa	p.E236G	ATF1_ENST00000539132.1_Missense_Mutation_p.E101G	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	236	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|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)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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 transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AAGAAGAAAGAATATGTGAAA	0.308			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	uc001rww.3		NA		Dom	yes		12	12q13	466	T	activating transcription factor 1			"""E, M"""	EWSR1|FUS		malignant melanoma of soft parts |angiomatoid fibrous histiocytoma 	EWSR1/ATF1(323)|FUS/ATF1(4)	0				soft_tissue(321)|ovary(2)|NS(2)|bone(2)|skin(2)	329						c.(706-708)GAA>GGA		activating transcription factor 1							47.0	51.0	50.0					12																	51213453		2203	4297	6500	SO:0001583	missense	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor 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			g.chr12:51213453A>G	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.707A>G	12.37:g.51213453A>G	ENSP00000262053:p.Glu236Gly					ATF1_uc010smu.1_Missense_Mutation_p.E101G	p.E236G	NM_005171	NP_005162	P18846	ATF1_HUMAN			7	985	+			236					B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	c.707A>G	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.234705	0.79800	.	.	ENSG00000123268	ENST00000262053;ENST00000539132	T;T	0.58652	0.32;0.32	5.08	5.08	0.68730	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	T	0.80989	0.4730	H	0.95043	3.615	0.80722	D	1	D	0.61080	0.989	P	0.60236	0.871	D	0.87271	0.2286	10	0.87932	D	0	10.0933	15.5514	0.76155	1.0:0.0:0.0:0.0	.	236	P18846	ATF1_HUMAN	G	236;101	ENSP00000262053:E236G;ENSP00000438403:E101G	ENSP00000262053:E236G	E	+	2	0	ATF1	49499720	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.026000	0.93700	2.204000	0.70986	0.523000	0.50628	GAA		0.308	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		21	26	0	0	0	0	21	26				
KRT79	338785	broad.mit.edu	37	12	53227940	53227940	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:53227940T>C	ENST00000330553.5	-	1	139	c.105A>G	c.(103-105)tcA>tcG	p.S35S		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	35	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACCGTCACTGAGCTGAAGC	0.647																																						uc001sbb.2		NA																	0				ovary(2)|skin(2)	4						c.(103-105)TCA>TCG		keratin 6L							35.0	37.0	36.0					12																	53227940		2203	4299	6502	SO:0001819	synonymous_variant	338785					keratin filament	structural molecule activity	g.chr12:53227940T>C	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.105A>G	12.37:g.53227940T>C							p.S35S	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN			1	138	-			35			Head.		Q6P465|Q7Z793	Silent	SNP	ENST00000330553.5	37	c.105A>G	CCDS8839.1																																																																																				0.647	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834		18	42	0	0	0	0	18	42				
KRT78	196374	broad.mit.edu	37	12	53233651	53233651	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:53233651G>T	ENST00000304620.4	-	7	1228	c.1165C>A	c.(1165-1167)Ctg>Atg	p.L389M	KRT78_ENST00000359499.4_Missense_Mutation_p.L279M	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	389	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						AGCCGGGCCAGGTTCTGCTTG	0.637																																						uc001sbc.1		NA																	0				ovary(2)	2						c.(1165-1167)CTG>ATG		keratin 5b							65.0	56.0	59.0					12																	53233651		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53233651G>T	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1165C>A	12.37:g.53233651G>T	ENSP00000306261:p.Leu389Met						p.L389M	NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN			7	1229	-			389			Coil 2.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.1165C>A	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	G	5.210	0.224219	0.09863	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.88201	-2.35;-2.35	3.8	-7.59	0.01308	Filament (1);	.	.	.	.	T	0.67942	0.2947	N	0.10837	0.055	0.21915	N	0.999474	B	0.26547	0.152	B	0.28553	0.091	T	0.60571	-0.7237	9	0.02654	T	1	.	3.8291	0.08867	0.2182:0.0718:0.4824:0.2276	.	389	Q8N1N4	K2C78_HUMAN	M	279;389;160	ENSP00000352479:L279M;ENSP00000306261:L389M	ENSP00000306261:L389M	L	-	1	2	KRT78	51519918	0.000000	0.05858	0.014000	0.15608	0.008000	0.06430	-0.513000	0.06305	-2.999000	0.00276	-0.672000	0.03802	CTG		0.637	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		20	50	1	0	7.21e-19	1.45e-18	20	50				
KRT18	3875	broad.mit.edu	37	12	53346565	53346565	+	Missense_Mutation	SNP	G	G	A	rs148580152		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:53346565G>A	ENST00000388835.3	+	7	1442	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	KRT8_ENST00000552551.1_5'Flank|AC107016.2_ENST00000581256.1_RNA|KRT18_ENST00000550600.1_3'UTR|KRT8_ENST00000549198.1_5'Flank|KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.R411H	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	411	Tail.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						ACCACCACCCGCCGGATAGTG	0.532																																						uc001sbe.2		NA																	0				skin(1)	1						c.(1231-1233)CGC>CAC		keratin 18		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	101.0	108.0	105.0		1232,1232	2.0	0.9	12	dbSNP_134	105	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	KRT18	NM_000224.2,NM_199187.1	29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	411/431,411/431	53346565	1,13001	2203	4298	6501	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53346565G>A		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.1232G>A	12.37:g.53346565G>A	ENSP00000373487:p.Arg411His					KRT18_uc009zmn.1_3'UTR|KRT18_uc001sbf.1_3'UTR|KRT18_uc001sbg.2_Missense_Mutation_p.R411H|KRT18_uc009zmo.2_3'UTR	p.R411H	NM_199187	NP_954657	P05783	K1C18_HUMAN			8	1301	+			411			Tail.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.1232G>A	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.535522	0.45176	0.0	1.16E-4	ENSG00000111057	ENST00000388837;ENST00000388835	D;D	0.82619	-1.63;-1.63	3.94	2.05	0.26809	.	0.478163	0.19449	N	0.113969	T	0.68997	0.3062	L	0.29908	0.895	0.39482	D	0.967908	B	0.10296	0.003	B	0.06405	0.002	T	0.62987	-0.6737	10	0.62326	D	0.03	.	3.2415	0.06782	0.223:0.0:0.5484:0.2286	.	411	P05783	K1C18_HUMAN	H	411	ENSP00000373489:R411H;ENSP00000373487:R411H	ENSP00000373487:R411H	R	+	2	0	KRT18	51632832	1.000000	0.71417	0.933000	0.37362	0.996000	0.88848	2.804000	0.47931	0.606000	0.29965	0.561000	0.74099	CGC		0.532	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1	NM_199187		24	48	0	0	0	0	24	48				
IKZF4	64375	broad.mit.edu	37	12	56429106	56429106	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:56429106G>A	ENST00000262032.5	+	12	2116	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.K538K|IKZF4_ENST00000431367.2_Silent_p.K481K|IKZF4_ENST00000547167.1_Silent_p.K583K			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	583					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGAGCATAAGGTGGGCTAGC	0.547																																						uc001sjb.1		NA																	0				ovary(1)	1						c.(1747-1749)AAG>AAA		zinc finger protein, subfamily 1A, 4							144.0	144.0	144.0					12																	56429106		2126	4232	6358	SO:0001819	synonymous_variant	64375				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:56429106G>A	AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13179	protein-coding gene	gene with protein product		606239	"""zinc finger protein, subfamily 1A, 4 (Eos)"""	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.1749G>A	12.37:g.56429106G>A						IKZF4_uc010sqa.1_Silent_p.K536K|IKZF4_uc001sjc.1_Silent_p.K583K|IKZF4_uc001sjd.1_Silent_p.K481K|IKZF4_uc009zoi.1_Silent_p.K538K|IKZF4_uc001sje.1_Silent_p.K542K	p.K583K	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)		9	1908	+			583					Q96JP3	Silent	SNP	ENST00000262032.5	37	c.1749G>A	CCDS44917.1																																																																																				0.547	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407590.1	NM_022465		7	191	0	0	0	0	7	191				
INHBC	3626	broad.mit.edu	37	12	57843137	57843137	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:57843137C>G	ENST00000309668.2	+	2	518	c.391C>G	c.(391-393)Cag>Gag	p.Q131E		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	131					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGAGGTCCAGCAGGCCAGTCT	0.507																																						uc001snv.1		NA																	0					0						c.(391-393)CAG>GAG		inhibin beta C chain preproprotein							207.0	187.0	194.0					12																	57843137		2203	4300	6503	SO:0001583	missense	3626				growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	g.chr12:57843137C>G		CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.391C>G	12.37:g.57843137C>G	ENSP00000308716:p.Gln131Glu						p.Q131E	NM_005538	NP_005529	P55103	INHBC_HUMAN			2	518	+			131					A1L3Y2	Missense_Mutation	SNP	ENST00000309668.2	37	c.391C>G	CCDS8938.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025046	0.35701	.	.	ENSG00000175189	ENST00000550133;ENST00000309668	T;T	0.64803	-0.12;-0.12	4.82	2.94	0.34122	Transforming growth factor-beta, N-terminal (1);	0.179946	0.49916	N	0.000137	T	0.59418	0.2192	M	0.76574	2.34	0.43550	D	0.995858	B	0.15719	0.014	B	0.16289	0.015	T	0.58434	-0.7637	10	0.52906	T	0.07	-7.2497	9.5565	0.39341	0.1508:0.5572:0.292:0.0	.	131	P55103	INHBC_HUMAN	E	131	ENSP00000449889:Q131E;ENSP00000308716:Q131E	ENSP00000308716:Q131E	Q	+	1	0	INHBC	56129404	0.993000	0.37304	1.000000	0.80357	0.978000	0.69477	1.883000	0.39658	0.731000	0.32448	-0.176000	0.13171	CAG		0.507	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1	NM_005538		65	181	0	0	0	0	65	181				
CYP27B1	1594	broad.mit.edu	37	12	58163103	58163103	+	5'Flank	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:58163103C>A	ENST00000228606.4	-	0	0				METTL21B_ENST00000551420.1_5'Flank|CYP27B1_ENST00000546496.1_5'Flank|METTL1_ENST00000257848.7_3'UTR|METTL1_ENST00000324871.7_Missense_Mutation_p.V220L|METTL1_ENST00000548681.1_5'Flank|METTL21B_ENST00000548256.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1						bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	TCCAGAGGCACACGCTCAAAC	0.537																																						uc010ssd.1		NA																	0					0						c.(658-660)GTG>TTG		methyltransferase-like protein 1 isoform a							74.0	61.0	66.0					12																	58163103		2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58163103C>A	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457		12.37:g.58163103C>A	Exception_encountered					CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.2_3'UTR	p.V220L	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		5	706	-	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)		220					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.658G>T	CCDS8954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.133|5.133	0.210219|0.210219	0.09757|0.09757	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000548504|ENST00000324871	.|T	.|0.39592	.|1.07	5.82|5.82	4.93|4.93	0.64822|0.64822	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33000|0.33000	0.0848|0.0848	L|L	0.31207|0.31207	0.915|0.915	0.80722|0.80722	D|D	1|1	.|B	.|0.17852	.|0.024	.|B	.|0.31016	.|0.123	T|T	0.08554|0.08554	-1.0716|-1.0716	5|10	.|0.10902	.|T	.|0.67	-19.7546|-19.7546	13.8739|13.8739	0.63638|0.63638	0.0:0.9253:0.0:0.0747|0.0:0.9253:0.0:0.0747	.|.	.|220	.|Q9UBP6	.|TRMB_HUMAN	F|L	84|220	.|ENSP00000314441:V220L	.|ENSP00000314441:V220L	C|V	-|-	2|1	0|0	METTL1|METTL1	56449370|56449370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.043000|0.043000	0.13939|0.13939	5.192000|5.192000	0.65115|0.65115	1.476000|1.476000	0.48215|0.48215	-0.140000|-0.140000	0.14226|0.14226	TGT|GTG		0.537	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785		11	21	1	0	3.86e-05	6e-05	11	21				
SLC16A7	9194	broad.mit.edu	37	12	60173400	60173400	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:60173400T>C	ENST00000261187.4	+	5	1541	c.1377T>C	c.(1375-1377)gaT>gaC	p.D459D	SLC16A7_ENST00000543448.1_Silent_p.D360D|SLC16A7_ENST00000552024.1_Silent_p.D459D|SLC16A7_ENST00000552432.1_Silent_p.D459D|SLC16A7_ENST00000547379.1_Silent_p.D459D	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	459					lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	ATTCGGAAGATGTTAACGTCA	0.368																																						uc001sqs.2		NA																	0				ovary(1)	1						c.(1375-1377)GAT>GAC		solute carrier family 16, member 7	Pyruvic acid(DB00119)						86.0	79.0	82.0					12																	60173400		2203	4300	6503	SO:0001819	synonymous_variant	9194					integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr12:60173400T>C	AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.1377T>C	12.37:g.60173400T>C						SLC16A7_uc001sqt.2_Silent_p.D459D|SLC16A7_uc001squ.2_Silent_p.D459D|SLC16A7_uc009zqi.2_Silent_p.D360D|SLC16A7_uc010ssi.1_Silent_p.D360D	p.D459D	NM_004731	NP_004722	O60669	MOT2_HUMAN		GBM - Glioblastoma multiforme(3;0.0303)	6	1676	+			459			Cytoplasmic (Potential).		Q8NEM3|Q9UPB3	Silent	SNP	ENST00000261187.4	37	c.1377T>C	CCDS8961.1																																																																																				0.368	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406587.1	NM_004731		7	19	0	0	0	0	7	19				
USP15	9958	broad.mit.edu	37	12	62715352	62715352	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:62715352G>T	ENST00000280377.5	+	5	641	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	USP15_ENST00000312635.6_Missense_Mutation_p.D195Y|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000393654.3_Missense_Mutation_p.D195Y|USP15_ENST00000353364.3_Missense_Mutation_p.D195Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	195					BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATAAACCAGACAGCACCAT	0.333																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	0				ovary(2)|lung(1)	3						c.(583-585)GAC>TAC		ubiquitin specific peptidase 15							78.0	79.0	79.0					12																	62715352		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62715352G>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.583G>T	12.37:g.62715352G>T	ENSP00000280377:p.Asp195Tyr					USP15_uc001srb.1_Missense_Mutation_p.D195Y|USP15_uc001sra.2_Missense_Mutation_p.D195Y	p.D195Y	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	5	592	+			195					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.583G>T	CCDS58251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.3|27.3	4.815152|4.815152	0.90790|0.90790	.|.	.|.	ENSG00000135655|ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000312635;ENST00000393654;ENST00000546694|ENST00000549237	T;T;T|.	0.21543|.	2.01;2.0;2.01|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.224065|.	0.44688|.	D|.	0.000426|.	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;P|.	0.64830|.	0.99;0.994;0.879|.	P;P;P|.	0.62491|.	0.87;0.903;0.532|.	T|T	0.54603|0.54603	-0.8269|-0.8269	9|5	.|.	.|.	.|.	-13.9367|-13.9367	19.2123|19.2123	0.93760|0.93760	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	195;195;195|.	Q9Y4E8;Q9Y4E8-2;Q9H8G9|.	UBP15_HUMAN;.;.|.	Y|H	195;195;195;195;74|190	ENSP00000258123:D195Y;ENSP00000280377:D195Y;ENSP00000377264:D195Y|.	.|.	D|Q	+|+	1|3	0|2	USP15|USP15	61001619|61001619	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.657000|9.657000	0.98554|0.98554	2.542000|2.542000	0.85734|0.85734	0.650000|0.650000	0.86243|0.86243	GAC|CAG		0.333	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		7	29	1	0	0.000274275	0.000411185	7	29				
AVPR1A	552	broad.mit.edu	37	12	63543951	63543951	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:63543951G>T	ENST00000299178.2	-	1	771	c.666C>A	c.(664-666)ggC>ggA	p.G222G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	222					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAAAGATGCCGCCCGTCATCC	0.612																																						uc001sro.1		NA																	0					0						c.(664-666)GGC>GGA		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						63.0	66.0	65.0					12																	63543951		2203	4300	6503	SO:0001819	synonymous_variant	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543951G>T	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.666C>A	12.37:g.63543951G>T							p.G222G	NM_000706	NP_000697	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	2640	-			222			Helical; Name=5; (Potential).			Silent	SNP	ENST00000299178.2	37	c.666C>A	CCDS8965.1																																																																																				0.612	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			34	93	1	0	3.9e-15	7.56e-15	34	93				
TMBIM4	51643	broad.mit.edu	37	12	66531826	66531826	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:66531826C>T	ENST00000358230.3	-	7	751	c.631G>A	c.(631-633)Gta>Ata	p.V211I	TMBIM4_ENST00000544599.1_Missense_Mutation_p.V34I|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000542724.1_Missense_Mutation_p.V180I|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.V258I|TMBIM4_ENST00000539652.1_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	211					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GCAGCTAATACGTACTCTTCA	0.413																																						uc001stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(631-633)GTA>ATA		transmembrane BAX inhibitor motif containing 4							128.0	126.0	127.0					12																	66531826		1946	4149	6095	SO:0001583	missense	51643					integral to membrane	protein binding	g.chr12:66531826C>T	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.631G>A	12.37:g.66531826C>T	ENSP00000350965:p.Val211Ile					LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.V180I|TMBIM4_uc009zqr.2_Missense_Mutation_p.V258I|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	p.V211I	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	707	-			211			Helical; (Potential).		Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	37	c.631G>A	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	C	0.129	-1.115698	0.01799	.	.	ENSG00000155957	ENST00000358230;ENST00000544599;ENST00000286424;ENST00000539427;ENST00000542724	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	5.73	3.75	0.43078	.	0.287002	0.36034	N	0.002824	T	0.11067	0.0270	N	0.01424	-0.875	0.80722	D	1	B;B;B	0.13145	0.004;0.007;0.001	B;B;B	0.13407	0.009;0.002;0.002	T	0.07443	-1.0772	9	.	.	.	-8.0679	4.6249	0.12474	0.0:0.3781:0.0:0.6219	.	258;180;211	G3XAA5;G3V1M2;Q9HC24	.;.;TMBI4_HUMAN	I	211;34;258;256;180	ENSP00000350965:V211I;ENSP00000444639:V34I;ENSP00000286424:V258I;ENSP00000441291:V180I	.	V	-	1	0	TMBIM4	64818093	1.000000	0.71417	0.297000	0.24988	0.205000	0.24178	2.505000	0.45424	0.809000	0.34255	-0.137000	0.14449	GTA		0.413	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056		22	47	0	0	0	0	22	47				
DYRK2	8445	broad.mit.edu	37	12	68051900	68051900	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:68051900A>T	ENST00000344096.3	+	3	1626	c.1213A>T	c.(1213-1215)Atg>Ttg	p.M405L	DYRK2_ENST00000393555.3_Missense_Mutation_p.M332L|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		GCCCATTGATATGTGGAGCCT	0.542																																						uc001str.3		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1213-1215)ATG>TTG		dual-specificity tyrosine-(Y)-phosphorylation							70.0	64.0	66.0					12																	68051900		2203	4300	6503	SO:0001583	missense	8445				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:68051900A>T	Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1213A>T	12.37:g.68051900A>T	ENSP00000342105:p.Met405Leu					DYRK2_uc001sts.3_Missense_Mutation_p.M332L	p.M405L	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)	3	1615	+			405			Protein kinase.		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	c.1213A>T	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610308	0.66558	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.18810	2.19;2.19	5.05	5.05	0.67936	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	0.26231	0.0640	L	0.27053	0.805	0.80722	D	1	P	0.52577	0.954	P	0.54372	0.75	T	0.01557	-1.1325	9	.	.	.	.	15.5002	0.75691	1.0:0.0:0.0:0.0	.	405	Q92630	DYRK2_HUMAN	L	405;332	ENSP00000342105:M405L;ENSP00000377186:M332L	.	M	+	1	0	DYRK2	66338167	1.000000	0.71417	0.977000	0.42913	0.864000	0.49448	7.413000	0.80104	2.209000	0.71365	0.254000	0.18369	ATG		0.542	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			11	30	0	0	0	0	11	30				
MDM2	4193	broad.mit.edu	37	12	69203025	69203025	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:69203025G>C	ENST00000350057.5	+	1	34	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	MDM2_ENST00000356290.4_Missense_Mutation_p.G12R|MDM2_ENST00000393412.3_Missense_Mutation_p.G12R|MDM2_ENST00000462284.1_Missense_Mutation_p.G18R|MDM2_ENST00000428863.2_Missense_Mutation_p.G12R|MDM2_ENST00000360430.2_Missense_Mutation_p.G12R|MDM2_ENST00000540827.1_Missense_Mutation_p.G12R|MDM2_ENST00000517852.1_Missense_Mutation_p.G12R|MDM2_ENST00000348801.2_Missense_Mutation_p.G7R|MDM2_ENST00000545204.1_Missense_Mutation_p.G12R|MDM2_ENST00000258148.7_Missense_Mutation_p.G18R|MDM2_ENST00000258149.5_Missense_Mutation_p.G12R|MDM2_ENST00000544561.1_Missense_Mutation_p.G12R|MDM2_ENST00000393413.3_Missense_Mutation_p.G12R|MDM2_ENST00000393410.1_Missense_Mutation_p.G12R|MDM2_ENST00000299252.4_Missense_Mutation_p.G12R|MDM2_ENST00000478070.1_Missense_Mutation_p.G7R			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	12	Necessary for interaction with USP2.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ACCTACTGATGGTGCTGTAAC	0.368			A		"""sarcoma, glioma, colorectal, other"""																																	uc001sui.2		NA		Dom	yes		12	12q15	4193	A	Mdm2 p53 binding protein homolog			"""M, O, E, L"""			sarcoma|glioma|colorectal|other		0				lung(2)|central_nervous_system(1)	3						c.(52-54)GGT>CGT		mouse double minute 2 homolog isoform MDM2							380.0	361.0	367.0					12																	69203025		1863	4090	5953	SO:0001583	missense	4193				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:69203025G>C		CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"""mouse double minute 2, human homolog of; p53-binding protein"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)"", ""Mdm2 p53 binding protein homolog (mouse)"""			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.34G>C	12.37:g.69203025G>C	ENSP00000266624:p.Gly12Arg					MDM2_uc009zri.2_Missense_Mutation_p.G18R|MDM2_uc009zqx.2_Missense_Mutation_p.G18R|MDM2_uc009zqw.2_Missense_Mutation_p.G18R|MDM2_uc001suk.2_Missense_Mutation_p.G18R|MDM2_uc009zqy.1_Missense_Mutation_p.G7R|MDM2_uc001sun.3_Missense_Mutation_p.G7R|MDM2_uc009zqz.2_Missense_Mutation_p.G12R|MDM2_uc009zra.2_Missense_Mutation_p.G12R|MDM2_uc009zrb.1_RNA|MDM2_uc001sum.1_Missense_Mutation_p.G7R|MDM2_uc009zrd.2_5'UTR|MDM2_uc009zrc.2_5'UTR|MDM2_uc009zre.2_Missense_Mutation_p.G7R|MDM2_uc009zrf.2_5'UTR|MDM2_uc001suo.2_Missense_Mutation_p.G7R|MDM2_uc009zrg.2_Missense_Mutation_p.G7R|MDM2_uc009zrh.2_Missense_Mutation_p.G7R	p.G18R	NM_002392	NP_002383	Q00987	MDM2_HUMAN	all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)		2	339	+	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		12			Necessary for interaction with USP2.		A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	ENST00000350057.5	37	c.52G>C		.	.	.	.	.	.	.	.	.	.	G	21.3	4.130925	0.77549	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000428863;ENST00000311440;ENST00000393412;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000539479;ENST00000393415;ENST00000543323;ENST00000523991;ENST00000393416;ENST00000544561;ENST00000545204;ENST00000393413;ENST00000350057;ENST00000393410;ENST00000299252;ENST00000360430;ENST00000517852;ENST00000348801;ENST00000478070	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.70986	1.49;0.89;0.84;-0.53;-0.37;0.41;0.9;0.9;0.41;0.16;0.82;0.84;-0.53;-0.25	4.6	4.6	0.57074	.	0.301827	0.28618	N	0.014701	T	0.80778	0.4688	M	0.64997	1.995	0.30124	N	0.805383	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;0.994;1.0;1.0;1.0;0.993;0.999	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.984;1.0;1.0;0.999;1.0;0.974;0.963;0.986;1.0;0.998;0.923;0.976	T	0.77056	-0.2729	9	.	.	.	-1.4133	13.1249	0.59349	0.0:0.0:1.0:0.0	.	12;12;12;12;12;12;18;12;12;12;12;18	Q00987-9;Q00987-3;Q00987-4;Q9H4C5;Q00987-5;Q00987;G3XA89;Q8NDW2;Q00987-2;Q9H4C3;Q8NDW0;Q00987-11	.;.;.;.;.;MDM2_HUMAN;.;.;.;.;.;.	R	18;12;12;12;12;12;12;12;12;18;18;12;12;12;12;12;12;12;12;12;12;12;12;12;7;7	ENSP00000417281:G18R;ENSP00000258149:G12R;ENSP00000348637:G12R;ENSP00000440932:G12R;ENSP00000410694:G12R;ENSP00000377064:G12R;ENSP00000258148:G18R;ENSP00000444430:G12R;ENSP00000377065:G12R;ENSP00000266624:G12R;ENSP00000377062:G12R;ENSP00000299252:G12R;ENSP00000353611:G12R;ENSP00000335096:G7R	.	G	+	1	0	MDM2	67489292	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.546000	0.53656	2.556000	0.86216	0.313000	0.20887	GGT		0.368	MDM2-033	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000402665.1	NM_006880		134	285	0	0	0	0	134	285				
PTPRR	5801	broad.mit.edu	37	12	71078504	71078504	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:71078504T>C	ENST00000283228.2	-	9	1791	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	PTPRR_ENST00000440835.2_Missense_Mutation_p.I202V|PTPRR_ENST00000378778.1_Missense_Mutation_p.I241V|PTPRR_ENST00000342084.4_Missense_Mutation_p.I335V|PTPRR_ENST00000549308.1_Missense_Mutation_p.I202V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	447	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTAGCATTAATGTAGGTGCTC	0.299																																						uc001swi.1		NA																	0				skin(2)|ovary(1)	3						c.(1339-1341)ATT>GTT		protein tyrosine phosphatase, receptor type, R							83.0	91.0	88.0					12																	71078504		2203	4297	6500	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71078504T>C	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.1339A>G	12.37:g.71078504T>C	ENSP00000283228:p.Ile447Val					PTPRR_uc001swh.1_Missense_Mutation_p.I202V|PTPRR_uc009zrs.2_Missense_Mutation_p.I296V|PTPRR_uc010stq.1_Missense_Mutation_p.I335V|PTPRR_uc010str.1_Missense_Mutation_p.I296V	p.I447V	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	9	1755	-			447			Tyrosine-protein phosphatase.|Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.1339A>G	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.563806	0.86335	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	5.74	5.74	0.90152	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.52532	D	0.000063	D	0.95341	0.8488	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.60160	0.987;0.984;0.984;0.987	D;D;D;D	0.74348	0.983;0.971;0.971;0.983	D	0.95992	0.8986	10	0.66056	D	0.02	-18.7871	15.7203	0.77705	0.0:0.0:0.0:1.0	.	296;335;241;447	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	V	202;447;241;335;202	ENSP00000391750:I202V;ENSP00000283228:I447V;ENSP00000368054:I241V;ENSP00000339605:I335V;ENSP00000446943:I202V	ENSP00000283228:I447V	I	-	1	0	PTPRR	69364771	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.303000	0.78871	2.194000	0.70268	0.460000	0.39030	ATT		0.299	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		24	59	0	0	0	0	24	59				
CAPS2	84698	broad.mit.edu	37	12	75687068	75687068	+	Missense_Mutation	SNP	C	C	A	rs373505414		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:75687068C>A	ENST00000409445.3	-	13	1377	c.1181G>T	c.(1180-1182)cGa>cTa	p.R394L	RP11-560G2.1_ENST00000534648.2_RNA|CAPS2_ENST00000409799.1_Missense_Mutation_p.R312L|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000393284.3_Missense_Mutation_p.R162L|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_5'UTR	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	394							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATTTGTGATTCGGAGTTTAAG	0.318																																						uc001sxk.3		NA																	0				ovary(2)	2						c.(1180-1182)CGA>CTA		calcyphosine 2		C	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	113.0	116.0		1181	4.6	1.0	12		116	0,8600		0,0,4300	no	missense	CAPS2	NM_032606.3	102	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	394/558	75687068	1,13005	2203	4300	6503	SO:0001583	missense	84698						calcium ion binding	g.chr12:75687068C>A	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1181G>T	12.37:g.75687068C>A	ENSP00000386959:p.Arg394Leu					CAPS2_uc001sxm.3_Missense_Mutation_p.R162L|CAPS2_uc009zsa.2_5'UTR|CAPS2_uc001sxi.3_Missense_Mutation_p.R130L|CAPS2_uc001sxj.3_Missense_Mutation_p.R305L|CAPS2_uc001sxl.3_Missense_Mutation_p.R375L	p.R394L	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN			13	1378	-			394					Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	c.1181G>T	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958761	0.53400	2.27E-4	0.0	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.29142	1.83;1.58;1.72	4.6	4.6	0.57074	.	0.130292	0.34245	N	0.004139	T	0.58509	0.2127	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.999	D;D;D;D	0.70935	0.956;0.956;0.971;0.96	T	0.65965	-0.6040	10	0.72032	D	0.01	-8.0574	17.7821	0.88527	0.0:1.0:0.0:0.0	.	162;130;394;312	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	L	312;394;130;162	ENSP00000386977:R312L;ENSP00000386959:R394L;ENSP00000376963:R162L	ENSP00000367975:R130L	R	-	2	0	CAPS2	73973335	1.000000	0.71417	0.999000	0.59377	0.096000	0.18686	5.588000	0.67517	2.282000	0.76494	0.446000	0.29264	CGA		0.318	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			19	52	1	0	5.39e-06	8.68e-06	19	52				
NAV3	89795	broad.mit.edu	37	12	78400500	78400500	+	Silent	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:78400500G>C	ENST00000397909.2	+	8	1355	c.1182G>C	c.(1180-1182)cgG>cgC	p.R394R	NAV3_ENST00000228327.6_Silent_p.R394R|NAV3_ENST00000266692.7_Silent_p.R394R|NAV3_ENST00000536525.2_Silent_p.R394R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	394						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCAATGCCCGGACTGCTTTAC	0.498										HNSCC(70;0.22)																												uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(1180-1182)CGG>CGC		neuron navigator 3							83.0	86.0	85.0					12																	78400500		1981	4151	6132	SO:0001819	synonymous_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400500G>C	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1182G>C	12.37:g.78400500G>C		HNSCC(70;0.22)				NAV3_uc001syo.2_Silent_p.R394R	p.R394R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			8	1355	+			394					Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37	c.1182G>C		.	.	.	.	.	.	.	.	.	.	G	6.615	0.481789	0.12581	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.74	3.9	0.45041	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60722	-0.7207	4	.	.	.	-13.8773	11.1388	0.48390	0.1994:0.0:0.8006:0.0	.	.	.	.	H	218	.	.	D	+	1	0	NAV3	76924631	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.350000	0.34010	1.436000	0.47453	0.655000	0.94253	GAC		0.498	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		25	69	0	0	0	0	25	69				
ACSS3	79611	broad.mit.edu	37	12	81627154	81627154	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:81627154T>C	ENST00000548058.1	+	13	2533	c.1623T>C	c.(1621-1623)ggT>ggC	p.G541G	ACSS3_ENST00000261206.3_Silent_p.G540G|ACSS3_ENST00000548324.1_Silent_p.G223G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	541						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TGGATGCTGGTTACATGGATG	0.343																																						uc001szl.1		NA																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(1621-1623)GGT>GGC		acyl-CoA synthetase short-chain family member 3							255.0	251.0	252.0					12																	81627154		2203	4300	6503	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81627154T>C		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1623T>C	12.37:g.81627154T>C						ACSS3_uc001szm.1_Silent_p.G540G|ACSS3_uc001szn.1_Silent_p.G223G	p.G541G	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN			13	1714	+			541					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.1623T>C	CCDS9022.1																																																																																				0.343	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		31	99	0	0	0	0	31	99				
SLC6A15	55117	broad.mit.edu	37	12	85255711	85255711	+	Silent	SNP	G	G	T	rs149254147		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:85255711G>T	ENST00000266682.5	-	12	2434	c.1893C>A	c.(1891-1893)ctC>ctA	p.L631L	SLC6A15_ENST00000552192.1_Silent_p.L524L|SLC6A15_ENST00000309283.7_Intron	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	631					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						CAGGGACTGGGAGTATTGCAA	0.393																																						uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1891-1893)CTC>CTA		solute carrier family 6, member 15 isoform 1							107.0	115.0	112.0					12																	85255711		2203	4300	6503	SO:0001819	synonymous_variant	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85255711G>T	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1893C>A	12.37:g.85255711G>T						SLC6A15_uc010sul.1_Silent_p.L524L|SLC6A15_uc001szw.1_Intron	p.L631L	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			12	2386	-			631			Helical; Name=12; (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Silent	SNP	ENST00000266682.5	37	c.1893C>A	CCDS9026.1																																																																																				0.393	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		19	88	1	0	3.57e-18	7.14e-18	19	88				
SLC6A15	55117	broad.mit.edu	37	12	85266419	85266419	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:85266419G>A	ENST00000266682.5	-	8	1805	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	SLC6A15_ENST00000552192.1_Missense_Mutation_p.H315Y|SLC6A15_ENST00000551388.1_5'Flank|SLC6A15_ENST00000309283.7_Missense_Mutation_p.H130Y	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	422					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAATTGAGATGAAGAGCAGGA	0.308																																						uc001szv.2		NA																	0				pancreas(2)|ovary(1)	3						c.(1264-1266)CAT>TAT		solute carrier family 6, member 15 isoform 1							68.0	72.0	70.0					12																	85266419		2203	4297	6500	SO:0001583	missense	55117				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr12:85266419G>A	AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.1264C>T	12.37:g.85266419G>A	ENSP00000266682:p.His422Tyr					SLC6A15_uc010sul.1_Missense_Mutation_p.H315Y|SLC6A15_uc001szw.1_Missense_Mutation_p.H130Y	p.H422Y	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN			8	1757	-			422			Extracellular (Potential).		A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	ENST00000266682.5	37	c.1264C>T	CCDS9026.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.686943	0.48097	.	.	ENSG00000072041	ENST00000309283;ENST00000266682;ENST00000318721;ENST00000552192;ENST00000551818	T;T;T	0.77750	-1.12;-0.67;-0.87	5.34	4.39	0.52855	.	0.436191	0.24831	N	0.035253	T	0.66587	0.2804	N	0.16656	0.425	0.80722	D	1	B;B	0.17268	0.017;0.021	B;B	0.32864	0.095;0.154	T	0.62501	-0.6841	10	0.33940	T	0.23	.	13.0097	0.58724	0.0:0.3553:0.6447:0.0	.	130;422	F8WJN6;Q9H2J7	.;S6A15_HUMAN	Y	130;422;138;315;130	ENSP00000311645:H130Y;ENSP00000266682:H422Y;ENSP00000450145:H315Y	ENSP00000266682:H422Y	H	-	1	0	SLC6A15	83790550	0.725000	0.28048	0.994000	0.49952	0.986000	0.74619	2.525000	0.45598	2.483000	0.83821	0.563000	0.77884	CAT		0.308	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405678.1	NM_018057, NM_182767		20	36	0	0	0	0	20	36				
C12orf29	91298	broad.mit.edu	37	12	88433979	88433979	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:88433979A>T	ENST00000356891.3	+	2	348	c.145A>T	c.(145-147)Ata>Tta	p.I49L	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	49					hematopoietic progenitor cell differentiation (GO:0002244)					large_intestine(3)|lung(1)|ovary(1)	5						AGATGCAGATATATACAGTGC	0.308																																						uc001tao.2		NA																	0					0						c.(145-147)ATA>TTA		hypothetical protein LOC91298							78.0	80.0	79.0					12																	88433979		2203	4298	6501	SO:0001583	missense	91298							g.chr12:88433979A>T	AL137488	CCDS31866.1	12q21.32	2012-05-30			ENSG00000133641	ENSG00000133641			25322	protein-coding gene	gene with protein product						14702039	Standard	NM_001009894		Approved	DKFZp434N2030	uc001tao.3	Q8N999	OTTHUMG00000169870	ENST00000356891.3:c.145A>T	12.37:g.88433979A>T	ENSP00000349358:p.Ile49Leu					C12orf29_uc001tap.2_Intron|C12orf29_uc009zsk.2_Intron	p.I49L	NM_001009894	NP_001009894	Q8N999	CL029_HUMAN			2	303	+			49					Q569K5|Q6AWA8|Q6PEK5|Q8IYQ5|Q9NT75	Missense_Mutation	SNP	ENST00000356891.3	37	c.145A>T	CCDS31866.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314885	0.40996	.	.	ENSG00000133641	ENST00000356891	T	0.32753	1.44	5.06	1.38	0.22167	.	.	.	.	.	T	0.26991	0.0661	L	0.50333	1.59	0.29777	N	0.834319	B	0.06786	0.001	B	0.11329	0.006	T	0.20338	-1.0278	9	0.51188	T	0.08	.	8.5401	0.33388	0.6806:0.0:0.3194:0.0	.	49	Q8N999	CL029_HUMAN	L	49	ENSP00000349358:I49L	ENSP00000349358:I49L	I	+	1	0	C12orf29	86958110	1.000000	0.71417	0.985000	0.45067	0.973000	0.67179	2.030000	0.41108	0.053000	0.16036	-0.376000	0.06991	ATA		0.308	C12orf29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406335.1	NM_001009894		23	42	0	0	0	0	23	42				
CCDC38	120935	broad.mit.edu	37	12	96312654	96312654	+	Splice_Site	SNP	C	C	A	rs139084164		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:96312654C>A	ENST00000344280.3	-	3	695	c.138G>T	c.(136-138)acG>acT	p.T46T	CCDC38_ENST00000549752.1_5'Flank	NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	46										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAAACTTTACCGTTTCCTTTG	0.363																																						uc001tek.1		NA																	0				skin(1)	1						c.(136-138)ACG>ACT		coiled-coil domain containing 38							175.0	160.0	165.0					12																	96312654		2203	4300	6503	SO:0001630	splice_region_variant	120935							g.chr12:96312654C>A	AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.138+1G>T	12.37:g.96312654C>A							p.T46T	NM_182496	NP_872302	Q502W7	CCD38_HUMAN			3	372	-			46					Q8N835	Silent	SNP	ENST00000344280.3	37	c.138G>T	CCDS9056.1																																																																																				0.363	CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496	Silent	14	46	1	0	1.15e-07	1.93e-07	14	46				
CFAP54	144535	broad.mit.edu	37	12	97158856	97158856	+	Splice_Site	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:97158856T>C	ENST00000524981.4	+	60	8164	c.8141T>C	c.(8140-8142)gTc>gCc	p.V2714A				Q96N23	CL055_HUMAN		0																	TAATTGTAGGTCAGTGAAGCT	0.274																																						uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(3415-3417)GTC>GCC		hypothetical protein LOC374467							62.0	65.0	64.0					12																	97158856		2203	4298	6501	SO:0001630	splice_region_variant	374467							g.chr12:97158856T>C																												ENST00000524981.4:c.8140-1T>C	12.37:g.97158856T>C							p.V1139A	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			27	3494	+			1139						Missense_Mutation	SNP	ENST00000524981.4	37	c.3416T>C		.	.	.	.	.	.	.	.	.	.	T	18.02	3.530221	0.64860	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000031	T	0.76234	0.3959	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75825	-0.3181	9	0.39692	T	0.17	-13.0761	14.1253	0.65215	0.0:0.0:0.0:1.0	.	1139	Q6ZTY8	CL063_HUMAN	A	2714;1139	.	ENSP00000345466:V1139A	V	+	2	0	C12orf63	95682987	1.000000	0.71417	1.000000	0.80357	0.721000	0.41392	3.293000	0.51779	2.162000	0.67917	0.254000	0.18369	GTC		0.274	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		Missense_Mutation	15	57	0	0	0	0	15	57				
IKBIP	121457	broad.mit.edu	37	12	99007656	99007656	+	Missense_Mutation	SNP	C	C	A	rs147943089		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:99007656C>A	ENST00000342502.2	-	3	1171	c.760G>T	c.(760-762)Gac>Tac	p.D254Y	IKBIP_ENST00000393042.3_3'UTR|IKBIP_ENST00000420861.1_Missense_Mutation_p.D148Y	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	254					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GTATGTTTGTCGAAGTCACTC	0.378																																						uc001tfv.2		NA																	0					0						c.(760-762)GAC>TAC		IKK interacting protein isoform 2							117.0	118.0	118.0					12																	99007656		2202	4300	6502	SO:0001583	missense	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007656C>A	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.760G>T	12.37:g.99007656C>A	ENSP00000343471:p.Asp254Tyr					IKBIP_uc001tfw.2_3'UTR	p.D254Y	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			3	870	-			254					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	ENST00000342502.2	37	c.760G>T	CCDS9067.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120560	0.20877	.	.	ENSG00000166130	ENST00000342502;ENST00000420861	T;T	0.45276	0.92;0.9	5.24	0.175	0.15045	.	.	.	.	.	T	0.28995	0.0720	N	0.08118	0	0.20196	N	0.999928	P	0.52692	0.955	P	0.49012	0.598	T	0.24333	-1.0163	9	0.59425	D	0.04	.	9.5749	0.39452	0.0:0.2331:0.0:0.7669	.	254	Q70UQ0	IKIP_HUMAN	Y	254;148	ENSP00000343471:D254Y;ENSP00000398023:D148Y	ENSP00000343471:D254Y	D	-	1	0	IKBIP	97531787	0.155000	0.22806	0.355000	0.25773	0.045000	0.14185	0.092000	0.15066	-0.136000	0.11475	-0.136000	0.14681	GAC		0.378	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		20	68	1	0	2.46e-09	4.32e-09	20	68				
NR1H4	9971	broad.mit.edu	37	12	100928694	100928694	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:100928694T>C	ENST00000551379.1	+	4	683	c.655T>C	c.(655-657)Tct>Cct	p.S219P	NR1H4_ENST00000549996.1_Missense_Mutation_p.S158P|NR1H4_ENST00000188403.7_Missense_Mutation_p.S215P|NR1H4_ENST00000392986.3_Missense_Mutation_p.S209P|NR1H4_ENST00000548884.1_Missense_Mutation_p.S205P			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	219					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TCAGTGTAAATCTAAGCGACT	0.413																																						uc001tht.1		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(655-657)TCT>CCT		nuclear receptor subfamily 1, group H, member 4							102.0	85.0	91.0					12																	100928694		2203	4300	6503	SO:0001583	missense	9971				bile acid metabolic process|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|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:100928694T>C	U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.655T>C	12.37:g.100928694T>C	ENSP00000447149:p.Ser219Pro					NR1H4_uc001thp.1_Missense_Mutation_p.S205P|NR1H4_uc001thq.1_Missense_Mutation_p.S209P|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Missense_Mutation_p.S209P|NR1H4_uc010svk.1_Missense_Mutation_p.S158P|NR1H4_uc001ths.1_Missense_Mutation_p.S215P	p.S219P	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN			4	683	+			219					A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	SNP	ENST00000551379.1	37	c.655T>C	CCDS55876.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.783453	0.90282	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96491	-4.02;-3.14;-4.03;-3.14;-4.02	5.64	5.64	0.86602	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.97826	0.9286	M	0.74647	2.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.997	D;D;D;D;D	0.97110	0.999;1.0;0.999;0.996;0.921	D	0.98200	1.0467	10	0.51188	T	0.08	.	15.8714	0.79122	0.0:0.0:0.0:1.0	.	158;219;215;209;205	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	P	205;209;158;219;215	ENSP00000448506:S205P;ENSP00000376712:S209P;ENSP00000448978:S158P;ENSP00000447149:S219P;ENSP00000188403:S215P	ENSP00000188403:S215P	S	+	1	0	NR1H4	99452825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.471000	0.80985	2.144000	0.66660	0.533000	0.62120	TCT		0.413	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123		16	21	0	0	0	0	16	21				
ANO4	121601	broad.mit.edu	37	12	101491468	101491468	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:101491468C>A	ENST00000392977.3	+	20	2100	c.1890C>A	c.(1888-1890)aaC>aaA	p.N630K	ANO4_ENST00000299222.9_Missense_Mutation_p.N150K|ANO4_ENST00000550015.1_Missense_Mutation_p.N150K|ANO4_ENST00000392979.3_Missense_Mutation_p.N595K			Q32M45	ANO4_HUMAN	anoctamin 4	630					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGCTGATAAACAGGTGGAGAC	0.428										HNSCC(74;0.22)																												uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(1888-1890)AAC>AAA		anoctamin 4							153.0	170.0	164.0					12																	101491468		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101491468C>A	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1890C>A	12.37:g.101491468C>A	ENSP00000376703:p.Asn630Lys	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.N595K|ANO4_uc001thx.2_Missense_Mutation_p.N630K|ANO4_uc001thy.2_Missense_Mutation_p.N150K	p.N630K	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			20	2462	+			630			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1890C>A		.	.	.	.	.	.	.	.	.	.	C	12.59	1.983513	0.35036	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.68479	-0.32;-0.18;-0.33;-0.18	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.71178	0.3309	L	0.51914	1.62	0.52099	D	0.999944	B;P;B	0.34909	0.317;0.475;0.202	B;B;B	0.44044	0.164;0.439;0.164	T	0.69569	-0.5110	10	0.45353	T	0.12	.	19.5403	0.95271	0.0:1.0:0.0:0.0	.	150;630;595	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	K	595;150;630;150	ENSP00000376705:N595K;ENSP00000299222:N150K;ENSP00000376703:N630K;ENSP00000450192:N150K	ENSP00000299222:N150K	N	+	3	2	ANO4	100015599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.073000	0.41519	2.623000	0.88846	0.561000	0.74099	AAC		0.428	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		20	52	1	0	2.4e-15	4.64e-15	20	52				
SLC5A8	160728	broad.mit.edu	37	12	101603614	101603614	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:101603614G>T	ENST00000536262.2	-	1	571	c.13C>A	c.(13-15)Cgg>Agg	p.R5R		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGATGCCCCGTGGCGTGTCC	0.706																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3		NA																	0					0						c.(13-15)CGG>AGG		solute carrier family 5 (iodide transporter),							17.0	15.0	16.0					12																	101603614		2099	4120	6219	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603614G>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.13C>A	12.37:g.101603614G>T							p.R5R	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			1	403	-			5			Extracellular (Potential).			Silent	SNP	ENST00000536262.2	37	c.13C>A	CCDS9080.1																																																																																				0.706	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		7	13	1	0	0.000157383	0.000239122	7	13				
APPL2	55198	broad.mit.edu	37	12	105600962	105600962	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:105600962C>G	ENST00000258530.3	-	8	723	c.498G>C	c.(496-498)gaG>gaC	p.E166D	APPL2_ENST00000551662.1_Missense_Mutation_p.E172D|APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.E123D	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCGCGGCCACCTCTTTTCCGA	0.512																																						uc001tlf.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(496-498)GAG>GAC		adaptor protein, phosphotyrosine interaction, PH							54.0	53.0	54.0					12																	105600962		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105600962C>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.498G>C	12.37:g.105600962C>G	ENSP00000258530:p.Glu166Asp					APPL2_uc010swt.1_Missense_Mutation_p.E123D|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.E172D|APPL2_uc009zuq.2_Missense_Mutation_p.E123D	p.E166D	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			8	716	-			166			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.498G>C	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	10.41	1.342342	0.24339	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553097	T;T;T;T	0.05139	3.49;3.49;3.49;3.49	6.17	6.17	0.99709	.	0.048986	0.85682	D	0.000000	T	0.07279	0.0184	N	0.19112	0.55	0.80722	D	1	D;P;P	0.59767	0.986;0.948;0.948	P;B;B	0.54664	0.758;0.412;0.389	T	0.47156	-0.9139	10	0.11794	T	0.64	-29.9132	8.1392	0.31073	0.0:0.8201:0.0:0.1799	.	172;123;166	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	D	166;123;172;133	ENSP00000258530:E166D;ENSP00000444472:E123D;ENSP00000446917:E172D;ENSP00000449767:E133D	ENSP00000258530:E166D	E	-	3	2	APPL2	104125092	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	2.758000	0.47565	2.941000	0.99782	0.655000	0.94253	GAG		0.512	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		14	35	0	0	0	0	14	35				
NUAK1	9891	broad.mit.edu	37	12	106466568	106466568	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:106466568C>G	ENST00000261402.2	-	5	2012	c.633G>C	c.(631-633)acG>acC	p.T211T		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCCCACAAAACGTTTGTAAGA	0.488																																						uc001tlj.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(631-633)ACG>ACC		AMPK-related protein kinase 5							120.0	111.0	114.0					12																	106466568		2203	4300	6503	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106466568C>G	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.633G>C	12.37:g.106466568C>G							p.T211T	NM_014840	NP_055655	O60285	NUAK1_HUMAN			5	2013	-			211	T->A: Prevents phosphorylation and activation by STK11/LKB1 complex.		Protein kinase.		A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.633G>C	CCDS31892.1																																																																																				0.488	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		21	50	0	0	0	0	21	50				
BTBD11	121551	broad.mit.edu	37	12	108029160	108029160	+	Silent	SNP	G	G	C	rs149726114	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:108029160G>C	ENST00000280758.5	+	12	3258	c.2730G>C	c.(2728-2730)tcG>tcC	p.S910S	BTBD11_ENST00000420571.2_Silent_p.S791S|BTBD11_ENST00000490090.2_Silent_p.S910S|BTBD11_ENST00000357167.4_Silent_p.S447S|BTBD11_ENST00000494235.2_5'UTR	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	910						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AACAGACCTCGCGCTTGGGTG	0.552																																						uc001tmk.1		NA																	0				skin(2)|ovary(1)	3						c.(2728-2730)TCG>TCC		BTB (POZ) domain containing 11 isoform a							90.0	76.0	81.0					12																	108029160		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108029160G>C	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2730G>C	12.37:g.108029160G>C						BTBD11_uc009zut.1_Silent_p.S791S|BTBD11_uc001tmj.2_Silent_p.S910S|BTBD11_uc001tml.1_Silent_p.S447S|BTBD11_uc001tmm.1_5'UTR	p.S910S	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			12	3251	+			910					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2730G>C	CCDS31893.1																																																																																				0.552	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322		22	49	0	0	0	0	22	49				
SART3	9733	broad.mit.edu	37	12	108930562	108930562	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:108930562C>A	ENST00000228284.3	-	10	1544		c.e10-1		SART3_ENST00000431469.2_Splice_Site	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3						cell morphogenesis (GO:0000902)|hematopoietic stem cell proliferation (GO:0071425)|homeostasis of number of cells (GO:0048872)|regulation of gene expression (GO:0010468)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTACTGGAGTCTAACGGAAAG	0.483									Porokeratosis																													uc001tmz.1		NA																	0				pancreas(1)	1						c.e10-1		squamous cell carcinoma antigen recognized by T							36.0	34.0	34.0					12																	108930562		2203	4300	6503	SO:0001630	splice_region_variant	9733	Porokeratosis	Familial Cancer Database	incl.: Porokeratosis of Mibelli, Disseminated Superficial Actinic Porokertosis, Porokeratosis Palmaris Plantaris et Disseminata, Porokeratosis Punctata Palmaris et Plantaris, Linear Porokeratosis	RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr12:108930562C>A	AB020880	CCDS9117.1	12q24.11	2013-02-12	2006-12-07			ENSG00000075856		"""RNA binding motif (RRM) containing"""	16860	protein-coding gene	gene with protein product		611684	"""squamous cell carcinoma antigen recognised by T cells 3"""			12032085, 15840095, 20595234	Standard	NM_014706		Approved	KIAA0156, RP11-13G14, TIP110, p110	uc001tmz.1	Q15020	OTTHUMG00000169449	ENST00000228284.3:c.1310-1G>T	12.37:g.108930562C>A						SART3_uc001tmy.1_Splice_Site|SART3_uc009zux.1_Splice_Site_p.D49_splice|SART3_uc010swx.1_Splice_Site_p.D401_splice|SART3_uc010swy.1_Splice_Site_p.D323_splice|SART3_uc010swz.1_Splice_Site_p.D437_splice|SART3_uc001tna.1_Splice_Site	p.D437_splice	NM_014706	NP_055521	Q15020	SART3_HUMAN			10	1545	-								A8K2E4|Q2M2H0|Q58F06|Q8IUS1|Q96J95	Splice_Site	SNP	ENST00000228284.3	37	c.1310_splice	CCDS9117.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655119	0.47467	.	.	ENSG00000075856	ENST00000228284;ENST00000431469;ENST00000535329;ENST00000412617;ENST00000546815	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6417	0.95760	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SART3	107454692	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	6.840000	0.75369	2.746000	0.94184	0.655000	0.94253	.		0.483	SART3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404094.1		Intron	12	22	1	0	2.81e-09	4.9e-09	12	22				
ALKBH2	121642	broad.mit.edu	37	12	109530453	109530453	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:109530453C>A	ENST00000429722.2	-	2	502	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W	ALKBH2_ENST00000343075.3_Missense_Mutation_p.G47W|ALKBH2_ENST00000440112.2_Missense_Mutation_p.G47W	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	47					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCTCCATTCCCTGGGGCCTCT	0.582								Direct reversal of damage																														uc001tnx.2		NA																	0					0						c.(139-141)GGG>TGG	Direct_reversal_of_damage	AlkB homolog 2	Vitamin C(DB00126)						132.0	144.0	140.0					12																	109530453		2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109530453C>A	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.139G>T	12.37:g.109530453C>A	ENSP00000398181:p.Gly47Trp					ALKBH2_uc001tny.2_Missense_Mutation_p.G47W|ALKBH2_uc010sxj.1_Missense_Mutation_p.G47W|ALKBH2_uc009zvd.2_Missense_Mutation_p.G47W|ALKBH2_uc010sxk.1_Missense_Mutation_p.G47W	p.G47W	NM_001145374	NP_001138846	Q6NS38	ALKB2_HUMAN			2	532	-			47					A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.139G>T	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120598	0.56613	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T	0.24350	1.86;1.86	5.76	3.94	0.45596	.	2.130610	0.01903	N	0.039340	T	0.40423	0.1116	L	0.27053	0.805	0.09310	N	1	D;P	0.71674	0.998;0.947	D;B	0.66847	0.947;0.319	T	0.26608	-1.0098	10	0.72032	D	0.01	-7.8247	8.7143	0.34401	0.0:0.8264:0.0:0.1736	.	47;47	A4PET2;Q6NS38	.;ALKB2_HUMAN	W	47	ENSP00000398181:G47W;ENSP00000343021:G47W	ENSP00000343021:G47W	G	-	1	0	ALKBH2	108014836	0.000000	0.05858	0.001000	0.08648	0.134000	0.20937	0.578000	0.23773	0.776000	0.33473	0.563000	0.77884	GGG		0.582	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		50	115	1	0	1.01e-21	2.06e-21	50	115				
ACACB	32	broad.mit.edu	37	12	109650676	109650676	+	Silent	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:109650676G>C	ENST00000338432.7	+	22	3404	c.3285G>C	c.(3283-3285)ctG>ctC	p.L1095L	ACACB_ENST00000377854.5_Silent_p.L1095L|ACACB_ENST00000377848.3_Silent_p.L1095L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1095					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)	CAGCCACCCTGCAGCGGAAGG	0.542																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(3283-3285)CTG>CTC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						194.0	175.0	182.0					12																	109650676		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:109650676G>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.3285G>C	12.37:g.109650676G>C						ACACB_uc001toc.2_Silent_p.L1095L	p.L1095L	NM_001093	NP_001084	O00763	ACACB_HUMAN			22	3404	+			1095					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.3285G>C	CCDS31898.1																																																																																				0.542	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		45	114	0	0	0	0	45	114				
UBE3B	89910	broad.mit.edu	37	12	109959106	109959106	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:109959106G>C	ENST00000342494.3	+	20	2825	c.2230G>C	c.(2230-2232)Gac>Cac	p.D744H	UBE3B_ENST00000434735.2_Missense_Mutation_p.D744H	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	744	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				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						GAGAGTTTTTGACCCAGCACT	0.488																																						uc001top.2		NA																	0				ovary(2)|lung(2)	4						c.(2230-2232)GAC>CAC		ubiquitin protein ligase E3B							138.0	139.0	138.0					12																	109959106		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109959106G>C	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.2230G>C	12.37:g.109959106G>C	ENSP00000340596:p.Asp744His					UBE3B_uc001toq.2_Missense_Mutation_p.D744H|UBE3B_uc001tos.2_Missense_Mutation_p.D171H|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.D744H	p.D744H	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			20	2833	+			744			HECT.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.2230G>C	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513949	0.64522	.	.	ENSG00000151148	ENST00000434735;ENST00000539599;ENST00000342494;ENST00000539584;ENST00000538070	T;T;T	0.49432	0.78;0.78;0.78	5.53	5.53	0.82687	HECT (4);	0.045879	0.85682	D	0.000000	T	0.69904	0.3163	M	0.87617	2.895	0.80722	D	1	P	0.42123	0.771	P	0.53809	0.735	T	0.73026	-0.4112	10	0.59425	D	0.04	4.2022	18.7978	0.92003	0.0:0.0:1.0:0.0	.	744	Q7Z3V4	UBE3B_HUMAN	H	744;744;744;171;39	ENSP00000391529:D744H;ENSP00000443131:D744H;ENSP00000340596:D744H	ENSP00000340596:D744H	D	+	1	0	UBE3B	108443489	1.000000	0.71417	0.999000	0.59377	0.560000	0.35617	5.827000	0.69300	2.753000	0.94483	0.655000	0.94253	GAC		0.488	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		31	99	0	0	0	0	31	99				
HECTD4	283450	broad.mit.edu	37	12	112670875	112670875	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:112670875C>G	ENST00000430131.2	-	37	5809	c.4664G>C	c.(4663-4665)cGg>cCg	p.R1555P	HECTD4_ENST00000377560.5_Missense_Mutation_p.R1805P|HECTD4_ENST00000550722.1_Missense_Mutation_p.R1831P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1555					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCGGAAGGGCCGTCCTTCTGA	0.512																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(4663-4665)CGG>CCG		chromosome 12 open reading frame 51							85.0	77.0	79.0					12																	112670875		1945	4149	6094	SO:0001583	missense	283450							g.chr12:112670875C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.4664G>C	12.37:g.112670875C>G	ENSP00000404379:p.Arg1555Pro						p.R1555P	NM_001109662	NP_001103132					31	4682	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.4664G>C		.	.	.	.	.	.	.	.	.	.	C	32	5.170610	0.94807	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.61158	0.14;0.15;0.13	5.34	5.34	0.76211	.	.	.	.	.	T	0.66117	0.2757	N	0.24115	0.695	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	T	0.70447	-0.4869	9	0.87932	D	0	.	19.4219	0.94725	0.0:1.0:0.0:0.0	.	1555	Q9Y4D8	K0614_HUMAN	P	1805;1555;1831	ENSP00000366783:R1805P;ENSP00000404379:R1555P;ENSP00000449784:R1831P	ENSP00000366783:R1805P	R	-	2	0	C12orf51	111155258	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.445000	0.80570	2.659000	0.90383	0.655000	0.94253	CGG		0.512	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		5	7	0	0	0	0	5	7				
RPH3A	22895	broad.mit.edu	37	12	113307719	113307719	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:113307719C>A	ENST00000389385.4	+	10	1168	c.671C>A	c.(670-672)cCc>cAc	p.P224H	RPH3A_ENST00000548866.1_Missense_Mutation_p.P175H|RPH3A_ENST00000447659.2_Missense_Mutation_p.P175H|RPH3A_ENST00000420983.2_Missense_Mutation_p.P224H|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.P224H|RPH3A_ENST00000551052.1_Missense_Mutation_p.P220H|RPH3A_ENST00000543106.2_Missense_Mutation_p.P224H	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	224	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCCTCTGCTCCCGGGCGAGGA	0.562																																						uc010syl.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(670-672)CCC>CAC		rabphilin 3A homolog isoform 1							100.0	99.0	99.0					12																	113307719		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113307719C>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.671C>A	12.37:g.113307719C>A	ENSP00000374036:p.Pro224His					RPH3A_uc001ttz.2_Missense_Mutation_p.P224H|RPH3A_uc001tty.2_Missense_Mutation_p.P220H|RPH3A_uc009zwe.1_Missense_Mutation_p.P220H|RPH3A_uc010sym.1_Missense_Mutation_p.P175H|RPH3A_uc001tua.2_5'UTR	p.P224H	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	10	1033	+			224			Pro-rich.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.671C>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050175	0.75846	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61510	0.1;0.1;0.11;0.1;0.1;0.1;0.1	5.71	5.71	0.89125	.	0.094402	0.45361	D	0.000367	T	0.66944	0.2841	L	0.43152	1.355	0.44323	D	0.997207	D;D;D;D	0.71674	0.975;0.997;0.997;0.998	P;P;P;P	0.60473	0.81;0.819;0.819;0.875	T	0.65821	-0.6075	10	0.48119	T	0.1	.	16.7844	0.85570	0.0:1.0:0.0:0.0	.	175;224;224;220	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	H	224;224;175;220;224;175;224	ENSP00000440384:P224H;ENSP00000374036:P224H;ENSP00000413254:P175H;ENSP00000448297:P220H;ENSP00000405357:P224H;ENSP00000450347:P175H;ENSP00000408889:P224H	ENSP00000374036:P224H	P	+	2	0	RPH3A	111792102	0.071000	0.21146	0.992000	0.48379	0.444000	0.32077	1.840000	0.39230	2.709000	0.92574	0.655000	0.94253	CCC		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		29	62	1	0	3.99e-17	7.9e-17	29	62				
RPH3A	22895	broad.mit.edu	37	12	113321158	113321158	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:113321158C>T	ENST00000389385.4	+	16	1884	c.1387C>T	c.(1387-1389)Ctc>Ttc	p.L463F	RPH3A_ENST00000548866.1_Missense_Mutation_p.L414F|RPH3A_ENST00000447659.2_Missense_Mutation_p.L414F|RPH3A_ENST00000420983.2_Missense_Mutation_p.L463F|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.L463F|RPH3A_ENST00000551052.1_Missense_Mutation_p.L459F|RPH3A_ENST00000543106.2_Missense_Mutation_p.L463F	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	463	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GAATGAGACCCTCGTGTATCA	0.562																																						uc010syl.1		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1387-1389)CTC>TTC		rabphilin 3A homolog isoform 1							79.0	65.0	69.0					12																	113321158		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113321158C>T	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1387C>T	12.37:g.113321158C>T	ENSP00000374036:p.Leu463Phe					RPH3A_uc001ttz.2_Missense_Mutation_p.L463F|RPH3A_uc001tty.2_Missense_Mutation_p.L459F|RPH3A_uc009zwe.1_Missense_Mutation_p.L459F|RPH3A_uc010sym.1_Missense_Mutation_p.L414F|RPH3A_uc001tua.2_Missense_Mutation_p.L223F	p.L463F	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	16	1749	+			463			C2 1.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1387C>T	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665007	0.67700	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.59224	0.28;0.28;0.28;0.28;0.28;0.28;0.28	5.43	3.58	0.41010	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.47093	D	0.000260	T	0.52645	0.1747	N	0.12637	0.245	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.41342	-0.9514	10	0.18276	T	0.48	.	9.2847	0.37749	0.0:0.809:0.0:0.191	.	414;463;463;459	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	F	463;463;414;459;463;414;463;115	ENSP00000440384:L463F;ENSP00000374036:L463F;ENSP00000413254:L414F;ENSP00000448297:L459F;ENSP00000405357:L463F;ENSP00000450347:L414F;ENSP00000408889:L463F	ENSP00000374036:L463F	L	+	1	0	RPH3A	111805541	0.993000	0.37304	0.203000	0.23512	0.907000	0.53573	3.100000	0.50275	2.546000	0.85860	0.551000	0.68910	CTC		0.562	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		10	23	0	0	0	0	10	23				
PRKAB1	5564	broad.mit.edu	37	12	120114377	120114377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:120114377G>T	ENST00000229328.5	+	5	1060	c.568G>T	c.(568-570)Gag>Tag	p.E190*	PRKAB1_ENST00000540121.1_Nonsense_Mutation_p.E24*|PRKAB1_ENST00000541640.1_Nonsense_Mutation_p.E190*	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	190					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	CTACCATCAGGAGCCCTACGT	0.537																																						uc009zwu.2		NA																	0					0						c.(568-570)GAG>TAG		AMP-activated protein kinase beta 1	Adenosine monophosphate(DB00131)|Metformin(DB00331)						134.0	127.0	129.0					12																	120114377		2203	4300	6503	SO:0001587	stop_gained	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120114377G>T	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.568G>T	12.37:g.120114377G>T	ENSP00000229328:p.Glu190*					PRKAB1_uc001txg.2_Nonsense_Mutation_p.E190*	p.E190*	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	6	671	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		190					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Nonsense_Mutation	SNP	ENST00000229328.5	37	c.568G>T	CCDS9191.1	.	.	.	.	.	.	.	.	.	.	G	42	9.601322	0.99216	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596;ENST00000540121;ENST00000545223	.	.	.	5.79	5.79	0.91817	.	0.246652	0.47852	D	0.000204	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-19.9528	20.0371	0.97565	0.0:0.0:1.0:0.0	.	.	.	.	X	190;190;153;24;24	.	ENSP00000229328:E190X	E	+	1	0	PRKAB1	118598760	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.448000	0.97600	2.734000	0.93682	0.655000	0.94253	GAG		0.537	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		36	80	1	0	9.81e-26	2.05e-25	36	80				
CLIP1	6249	broad.mit.edu	37	12	122825411	122825411	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:122825411C>T	ENST00000540338.1	-	10	2381	c.2340G>A	c.(2338-2340)cgG>cgA	p.R780R	CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000302528.7_Silent_p.R769R|CLIP1_ENST00000358808.2_Silent_p.R769R|CLIP1_ENST00000537178.1_Silent_p.R734R			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	780			R -> W (in dbSNP:rs3741447).		microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AACTGGCTTTCCGAAGTGCAT	0.393																																						uc001ucg.1		NA																	0				ovary(2)|breast(1)	3						c.(2338-2340)CGG>CGA		restin isoform a							160.0	154.0	156.0					12																	122825411		2203	4300	6503	SO:0001819	synonymous_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825411C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2340G>A	12.37:g.122825411C>T						CLIP1_uc001uch.1_Silent_p.R769R|CLIP1_uc001uci.1_Silent_p.R734R|CLIP1_uc001ucj.1_Intron	p.R780R	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2446	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		780			Potential.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.2340G>A	CCDS58285.1																																																																																				0.393	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		45	99	0	0	0	0	45	99				
SBNO1	55206	broad.mit.edu	37	12	123780568	123780568	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:123780568G>A	ENST00000602398.1	-	32	4196	c.4069C>T	c.(4069-4071)Cct>Tct	p.P1357S	SBNO1_ENST00000267176.4_Missense_Mutation_p.P1356S|SBNO1_ENST00000602750.1_Missense_Mutation_p.P1356S|SBNO1_ENST00000420886.2_Missense_Mutation_p.P1357S			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1357					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTACAAGAGGAGACACACAA	0.428																																						uc010tap.1		NA																	0				breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(4069-4071)CCT>TCT		sno, strawberry notch homolog 1							229.0	209.0	216.0					12																	123780568		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780568G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4069C>T	12.37:g.123780568G>A	ENSP00000473665:p.Pro1357Ser					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.P1356S|SBNO1_uc010taq.1_Missense_Mutation_p.P308S	p.P1357S	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4069	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1357					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4069C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	6.895	0.534606	0.13188	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.81996	-1.56;-1.56	6.04	6.04	0.98038	.	0.061089	0.64402	D	0.000004	T	0.67477	0.2897	N	0.12182	0.205	0.41857	D	0.990203	B;B	0.11235	0.002;0.004	B;B	0.10450	0.002;0.005	T	0.62737	-0.6791	10	0.08381	T	0.77	-15.6445	13.7331	0.62802	0.0698:0.0:0.9302:0.0	.	1357;1356	A3KN83;A3KN83-2	SBNO1_HUMAN;.	S	1357;1356	ENSP00000387361:P1357S;ENSP00000267176:P1356S	ENSP00000267176:P1356S	P	-	1	0	SBNO1	122346521	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.312000	0.72840	2.873000	0.98535	0.561000	0.74099	CCT		0.428	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		46	104	0	0	0	0	46	104				
DNAH10	196385	broad.mit.edu	37	12	124383262	124383262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:124383262G>T	ENST00000409039.3	+	55	9212	c.9187G>T	c.(9187-9189)Gag>Tag	p.E3063*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3063	Stalk. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCAGCTGGACGAGCTGAACCA	0.617																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(9187-9189)GAG>TAG		dynein, axonemal, heavy chain 10							19.0	24.0	23.0					12																	124383262		2013	4173	6186	SO:0001587	stop_gained	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124383262G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.9187G>T	12.37:g.124383262G>T	ENSP00000386770:p.Glu3063*						p.E3063*	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	55	9212	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		3063			Potential.|Stalk (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Nonsense_Mutation	SNP	ENST00000409039.3	37	c.9187G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	51	17.807983	0.99893	.	.	ENSG00000197653	ENST00000409039	.	.	.	4.54	4.54	0.55810	.	0.310843	0.33792	N	0.004546	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	17.4778	0.87664	0.0:0.0:1.0:0.0	.	.	.	.	X	3063	.	ENSP00000386770:E3063X	E	+	1	0	DNAH10	122949215	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.652000	0.98499	2.350000	0.79820	0.462000	0.41574	GAG		0.617	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			3	12	1	0	6.4e-05	9.89e-05	3	12				
TMEM132D	121256	broad.mit.edu	37	12	130184929	130184929	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:130184929G>T	ENST00000422113.2	-	2	720	c.394C>A	c.(394-396)Cac>Aac	p.H132N	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	132					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGCAGGATGTGGGCTTTTAGT	0.527																																						uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(394-396)CAC>AAC		transmembrane protein 132D precursor							49.0	49.0	49.0					12																	130184929		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130184929G>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.394C>A	12.37:g.130184929G>T	ENSP00000408581:p.His132Asn						p.H132N	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	722	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	132			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.394C>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450773	0.26074	.	.	ENSG00000151952	ENST00000422113	T	0.11930	2.73	5.33	-5.67	0.02444	.	1.891580	0.02673	N	0.108770	T	0.14184	0.0343	L	0.54323	1.7	0.09310	N	1	B	0.20988	0.05	B	0.18871	0.023	T	0.27262	-1.0079	9	.	.	.	-6.3808	10.9718	0.47444	0.7952:0.102:0.1027:0.0	.	132	Q14C87	T132D_HUMAN	N	132	ENSP00000408581:H132N	.	H	-	1	0	TMEM132D	128750882	0.346000	0.24844	0.000000	0.03702	0.714000	0.41099	1.865000	0.39479	-1.103000	0.03019	-0.300000	0.09419	CAC		0.527	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		14	30	1	0	1.36e-06	2.23e-06	14	30				
PIWIL1	9271	broad.mit.edu	37	12	130831562	130831562	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:130831562C>A	ENST00000245255.3	+	6	880	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	203					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAACTTCCACCTACATCACCA	0.348																																						uc001uik.2		NA																	0				ovary(2)	2						c.(607-609)CCT>CAT		piwi-like 1							117.0	113.0	114.0					12																	130831562		2203	4300	6503	SO:0001583	missense	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130831562C>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.608C>A	12.37:g.130831562C>A	ENSP00000245255:p.Pro203His					PIWIL1_uc001uij.1_Missense_Mutation_p.P203H	p.P203H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	6	698	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		203					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	c.608C>A	CCDS9268.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517574	0.85495	.	.	ENSG00000125207	ENST00000245255;ENST00000540672	T;T	0.12984	2.63;2.96	5.73	5.73	0.89815	Argonaute/Dicer protein, PAZ (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	M	0.70842	2.15	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.967	T	0.06679	-1.0813	10	0.66056	D	0.02	-8.508	18.8981	0.92432	0.0:1.0:0.0:0.0	.	203;203	Q96J94;Q96J94-2	PIWL1_HUMAN;.	H	203;64	ENSP00000245255:P203H;ENSP00000441695:P64H	ENSP00000245255:P203H	P	+	2	0	PIWIL1	129397515	1.000000	0.71417	0.250000	0.24296	0.834000	0.47266	7.791000	0.85805	2.691000	0.91804	0.650000	0.86243	CCT		0.348	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			17	36	1	0	6.94e-10	1.24e-09	17	36				
GPR133	283383	broad.mit.edu	37	12	131466553	131466553	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:131466553G>A	ENST00000261654.5	+	5	994	c.435G>A	c.(433-435)gtG>gtA	p.V145V	GPR133_ENST00000535015.1_Silent_p.V177V	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	145					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)		GAGGCTCTGTGGAGCTGTATA	0.587																																						uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(433-435)GTG>GTA		G protein-coupled receptor 133 precursor							107.0	99.0	102.0					12																	131466553		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131466553G>A	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.435G>A	12.37:g.131466553G>A						GPR133_uc010tbm.1_Silent_p.V177V	p.V145V	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)	5	994	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		145			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.435G>A	CCDS9272.1																																																																																				0.587	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		38	71	0	0	0	0	38	71				
POLE	5426	broad.mit.edu	37	12	133225973	133225973	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133225973C>A	ENST00000320574.5	-	31	3967	c.3924G>T	c.(3922-3924)cgG>cgT	p.R1308R	POLE_ENST00000535270.1_Silent_p.R1281R	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1308					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CAGGACCATCCCGGATGGCCC	0.647								DNA polymerases (catalytic subunits)																														uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(3922-3924)CGG>CGT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							28.0	30.0	30.0					12																	133225973		2202	4298	6500	SO:0001819	synonymous_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225973C>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3924G>T	12.37:g.133225973C>A						POLE_uc001ukr.1_Silent_p.R112R|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Silent_p.R1281R	p.R1308R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	31	3968	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1308					Q13533|Q86VH9	Silent	SNP	ENST00000320574.5	37	c.3924G>T	CCDS9278.1																																																																																				0.647	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		17	50	1	0	9.17e-09	1.59e-08	17	50				
POLE	5426	broad.mit.edu	37	12	133234500	133234500	+	Missense_Mutation	SNP	C	C	T	rs114315196	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133234500C>T	ENST00000320574.5	-	27	3375	c.3332G>A	c.(3331-3333)cGg>cAg	p.R1111Q	POLE_ENST00000535270.1_Missense_Mutation_p.R1084Q	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1111					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GAGCCATTTCCGGAGAAAGTG	0.483								DNA polymerases (catalytic subunits)					C|||	2	0.000399361	0.0008	0.0	5008	,	,		21914	0.0		0.001	False		,,,				2504	0.0					uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(3331-3333)CGG>CAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							144.0	136.0	139.0					12																	133234500		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133234500C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3332G>A	12.37:g.133234500C>T	ENSP00000322570:p.Arg1111Gln					POLE_uc001ukr.1_5'UTR|POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Missense_Mutation_p.R1084Q	p.R1111Q	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	27	3376	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1111					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.3332G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	37	6.174290	0.97348	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000376577	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.86	5.86	0.93980	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.45296	0.1335	M	0.80028	2.48	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.62885	0.733;0.908	T	0.30357	-0.9981	10	0.51188	T	0.08	.	20.2359	0.98356	0.0:1.0:0.0:0.0	.	1084;1111	F5H1D6;Q07864	.;DPOE1_HUMAN	Q	1111;1122;1084;891;88;1046	ENSP00000322570:R1111Q;ENSP00000406383:R1122Q;ENSP00000445753:R1084Q;ENSP00000442519:R891Q	ENSP00000322570:R1111Q	R	-	2	0	POLE	131744573	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.770000	0.85390	2.787000	0.95880	0.650000	0.86243	CGG		0.483	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		34	84	0	0	0	0	34	84				
POLE	5426	broad.mit.edu	37	12	133257867	133257867	+	Splice_Site	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133257867T>A	ENST00000320574.5	-	2	106		c.e2-2		POLE_ENST00000535270.1_Splice_Site	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit						base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|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)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCATCATCCCTGAGTGAAAGA	0.473								DNA polymerases (catalytic subunits)																														uc001uks.1		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.e2-1	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase epsilon							83.0	86.0	85.0					12																	133257867		2203	4300	6503	SO:0001630	splice_region_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133257867T>A		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.63-2A>T	12.37:g.133257867T>A						POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.R21_splice	p.R21_splice	NM_006231	NP_006222	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	2	107	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)						Q13533|Q86VH9	Splice_Site	SNP	ENST00000320574.5	37	c.63_splice	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347435	0.24426	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270	.	.	.	4.51	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8099	0.63256	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLE	131767940	1.000000	0.71417	0.991000	0.47740	0.163000	0.22366	7.420000	0.80191	1.803000	0.52742	0.402000	0.26972	.		0.473	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231	Intron	35	82	0	0	0	0	35	82				
ZNF10	7556	broad.mit.edu	37	12	133732562	133732562	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133732562G>A	ENST00000248211.6	+	5	952	c.730G>A	c.(730-732)Gac>Aac	p.D244N	ZNF10_ENST00000402932.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.D244N|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	244				Missing (in Ref. 1). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTGATAATGACAACTCTCT	0.378																																						uc009zzb.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(730-732)GAC>AAC		zinc finger protein 10							92.0	87.0	89.0					12																	133732562		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133732562G>A	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.730G>A	12.37:g.133732562G>A	ENSP00000248211:p.Asp244Asn					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.D244N	p.D244N	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1177	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	244	Missing (in Ref. 1).				B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.730G>A	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	2.425	-0.332202	0.05314	.	.	ENSG00000256223	ENST00000248211;ENST00000426665	T;T	0.60797	0.16;0.16	4.22	-2.49	0.06403	.	1.398810	0.04822	N	0.437138	T	0.43456	0.1248	L	0.35793	1.09	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.18935	-1.0321	9	.	.	.	.	6.5282	0.22312	0.4178:0.122:0.4602:0.0	.	244	P21506	ZNF10_HUMAN	N	244	ENSP00000248211:D244N;ENSP00000393814:D244N	.	D	+	1	0	ZNF10	132242635	0.001000	0.12720	0.000000	0.03702	0.114000	0.19823	1.036000	0.30228	-0.363000	0.08101	-0.140000	0.14226	GAC		0.378	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		12	27	0	0	0	0	12	27				
ZNF10	7556	broad.mit.edu	37	12	133733348	133733348	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:133733348A>T	ENST00000248211.6	+	5	1738	c.1516A>T	c.(1516-1518)Aag>Tag	p.K506*	ZNF10_ENST00000402932.2_Nonsense_Mutation_p.K372*|ZNF10_ENST00000426665.2_Nonsense_Mutation_p.K506*|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	506					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGACCTCATTAAGCACCAGAG	0.413																																						uc009zzb.2		NA																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(1516-1518)AAG>TAG		zinc finger protein 10							91.0	85.0	87.0					12																	133733348		2203	4300	6503	SO:0001587	stop_gained	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133733348A>T	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1516A>T	12.37:g.133733348A>T	ENSP00000248211:p.Lys506*					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Nonsense_Mutation_p.K506*	p.K506*	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1963	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	506			C2H2-type 10.		B2RBS1|Q8TC91	Nonsense_Mutation	SNP	ENST00000248211.6	37	c.1516A>T	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	A	39	7.554419	0.98355	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	.	.	.	4.04	2.78	0.32641	.	2.618930	0.01387	N	0.013120	.	.	.	.	.	.	0.30257	N	0.793509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0775	0.06251	0.5706:0.2249:0.2044:0.0	.	.	.	.	X	506;506;372	.	.	K	+	1	0	ZNF10	132243421	0.000000	0.05858	0.997000	0.53966	0.932000	0.56968	-0.174000	0.09839	1.824000	0.53156	0.533000	0.62120	AAG		0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		13	42	0	0	0	0	13	42				
TUBA3C	7278	broad.mit.edu	37	13	19753636	19753636	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:19753636T>A	ENST00000400113.3	-	2	175	c.71A>T	c.(70-72)tAc>tTc	p.Y24F	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	24					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTCCAGGCAGTACAGTTCCCA	0.512																																						uc009zzj.2		NA																	0				ovary(3)|skin(2)	5						c.(70-72)TAC>TTC		tubulin, alpha 3c							197.0	164.0	175.0					13																	19753636		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19753636T>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.71A>T	13.37:g.19753636T>A	ENSP00000382982:p.Tyr24Phe						p.Y24F	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	2	120	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	24					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.71A>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	t	10.18	1.279312	0.23307	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69175	-0.38	1.37	1.37	0.22104	.	0.000000	0.44483	U	0.000447	T	0.67785	0.2930	.	.	.	0.37949	D	0.932606	.	.	.	.	.	.	T	0.69617	-0.5097	7	0.56958	D	0.05	.	6.8515	0.24018	0.0:0.0:0.0:1.0	.	.	.	.	F	24	ENSP00000382982:Y24F	ENSP00000354037:Y24F	Y	-	2	0	TUBA3C	18651636	1.000000	0.71417	0.990000	0.47175	0.749000	0.42624	4.943000	0.63554	0.885000	0.36088	0.163000	0.16589	TAC		0.512	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		50	45	0	0	0	0	50	45				
RNF17	56163	broad.mit.edu	37	13	25406105	25406105	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:25406105G>T	ENST00000255324.5	+	18	2523	c.2471G>T	c.(2470-2472)tGt>tTt	p.C824F	RNF17_ENST00000381921.1_Missense_Mutation_p.C824F	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	824					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTATGACATGTTCAGTTATC	0.259																																						uc001upr.2		NA																	0				ovary(1)|skin(1)	2						c.(2470-2472)TGT>TTT		ring finger protein 17							66.0	67.0	67.0					13																	25406105		2203	4297	6500	SO:0001583	missense	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25406105G>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.2471G>T	13.37:g.25406105G>T	ENSP00000255324:p.Cys824Phe					RNF17_uc010tdd.1_Missense_Mutation_p.C683F|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.C824F|RNF17_uc001ups.2_Missense_Mutation_p.C763F|RNF17_uc010aac.2_Missense_Mutation_p.C22F	p.C824F	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	18	2512	+		Lung SC(185;0.0225)|Breast(139;0.077)	824					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	ENST00000255324.5	37	c.2471G>T	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271906	0.59649	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000418120	T;T;T	0.28454	1.61;1.61;1.61	5.39	5.39	0.77823	Staphylococcal nuclease (SNase-like) (1);	0.140491	0.50627	D	0.000113	T	0.44582	0.1300	L	0.32530	0.975	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.85130	0.997;0.996;0.934	T	0.11299	-1.0593	10	0.30854	T	0.27	-12.144	16.4185	0.83751	0.0:0.0:1.0:0.0	.	824;824;824	B7Z7S1;Q9BXT8-5;Q9BXT8	.;.;RNF17_HUMAN	F	824;824;683;148	ENSP00000255324:C824F;ENSP00000371346:C824F;ENSP00000388892:C148F	ENSP00000255324:C824F	C	+	2	0	RNF17	24304105	1.000000	0.71417	0.999000	0.59377	0.874000	0.50279	5.801000	0.69115	2.685000	0.91497	0.555000	0.69702	TGT		0.259	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		6	12	1	0	0.00116845	0.00172167	6	12				
PABPC3	5042	broad.mit.edu	37	13	25671150	25671150	+	Silent	SNP	C	C	A	rs368285293		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:25671150C>A	ENST00000281589.3	+	1	851	c.814C>A	c.(814-816)Cgg>Agg	p.R272R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	272					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAAGTGGAACGGCAGACGGA	0.398																																						uc001upy.2		NA																	0				ovary(3)|skin(1)	4						c.(814-816)CGG>AGG		poly(A) binding protein, cytoplasmic 3							157.0	146.0	150.0					13																	25671150		2203	4300	6503	SO:0001819	synonymous_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671150C>A	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.814C>A	13.37:g.25671150C>A							p.R272R	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	875	+		Lung SC(185;0.0225)|Breast(139;0.0602)	272					Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	c.814C>A	CCDS9311.1																																																																																				0.398	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		30	37	1	0	7.26e-15	1.4e-14	30	37				
ATP8A2	51761	broad.mit.edu	37	13	26343303	26343303	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:26343303G>T	ENST00000381655.2	+	26	2646	c.2504G>T	c.(2503-2505)gGt>gTt	p.G835V	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G795V|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	795					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCCCACGTGGGTGTGGGAATC	0.592																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2503-2505)GGT>GTT		ATPase, aminophospholipid transporter-like,							101.0	109.0	106.0					13																	26343303		2165	4257	6422	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26343303G>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2504G>T	13.37:g.26343303G>T	ENSP00000371070:p.Gly835Val					ATP8A2_uc010tdi.1_Missense_Mutation_p.G795V|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.G385V	p.G835V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	26	2646	+		Breast(139;0.0201)|Lung SC(185;0.0225)	795			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2504G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	32	5.128198	0.94473	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.83419	-1.72;-1.72	6.17	6.17	0.99709	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	H	0.99425	4.56	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.987;0.996;0.987	D	0.96959	0.9700	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	795;615;795	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	V	835;795;615	ENSP00000371070:G835V;ENSP00000255283:G795V	ENSP00000255283:G795V	G	+	2	0	ATP8A2	25241303	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	GGT		0.592	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		20	52	1	0	3.6e-14	6.85e-14	20	52				
FLT3	2322	broad.mit.edu	37	13	28592684	28592684	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:28592684G>C	ENST00000241453.7	-	20	2542	c.2461C>G	c.(2461-2463)Cac>Gac	p.H821D	FLT3_ENST00000380982.4_Missense_Mutation_p.H821D|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	821	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTTTCCCGTGGGTGACAAGC	0.468			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		0				haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(2461-2463)CAC>GAC		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						172.0	129.0	143.0					13																	28592684		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28592684G>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2461C>G	13.37:g.28592684G>C	ENSP00000241453:p.His821Asp					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Intron	p.H821D	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	20	2543	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	821			Protein kinase.|Cytoplasmic (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.2461C>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803957	0.50315	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.81996	-1.56;-1.56	5.88	5.88	0.94601	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.153309	0.46758	D	0.000272	T	0.57577	0.2063	N	0.01228	-0.945	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	T	0.61412	-0.7068	10	0.02654	T	1	.	14.9936	0.71412	0.0:0.0:0.8575:0.1424	.	821	P36888	FLT3_HUMAN	D	821	ENSP00000241453:H821D;ENSP00000370369:H821D	ENSP00000241453:H821D	H	-	1	0	FLT3	27490684	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.222000	0.58580	2.792000	0.96026	0.555000	0.69702	CAC		0.468	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			19	32	0	0	0	0	19	32				
FREM2	341640	broad.mit.edu	37	13	39264040	39264040	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:39264040C>A	ENST00000280481.7	+	1	2775	c.2559C>A	c.(2557-2559)caC>caA	p.H853Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	853					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(2557-2559)CAC>CAA		FRAS1-related extracellular matrix protein 2							116.0	107.0	110.0					13																	39264040		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264040C>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2559C>A	13.37:g.39264040C>A	ENSP00000280481:p.His853Gln						p.H853Q	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	2868	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	853			CSPG 5.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.2559C>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	C	1.958	-0.439480	0.04636	.	.	ENSG00000150893	ENST00000280481	T	0.26373	1.74	5.8	0.7	0.18099	.	0.330409	0.33346	N	0.005016	T	0.15478	0.0373	L	0.29908	0.895	0.31065	N	0.71368	B	0.14012	0.009	B	0.12837	0.008	T	0.30297	-0.9983	10	0.13470	T	0.59	.	10.9312	0.47220	0.0:0.1701:0.0:0.8299	.	853	Q5SZK8	FREM2_HUMAN	Q	853	ENSP00000280481:H853Q	ENSP00000280481:H853Q	H	+	3	2	FREM2	38162040	1.000000	0.71417	0.572000	0.28498	0.262000	0.26303	0.727000	0.25999	-0.077000	0.12752	-0.812000	0.03155	CAC		0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		13	28	1	0	5.51e-06	8.83e-06	13	28				
CYSLTR2	57105	broad.mit.edu	37	13	49281445	49281445	+	Silent	SNP	C	C	A	rs200214967		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:49281445C>A	ENST00000282018.3	+	1	495	c.492C>A	c.(490-492)atC>atA	p.I164I		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	164					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TCATATGGATCCTTATCATGG	0.493																																						uc010acx.1		NA																	0				lung(2)	2						c.(490-492)ATC>ATA		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						147.0	142.0	144.0					13																	49281445		2203	4300	6503	SO:0001819	synonymous_variant	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281445C>A	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.492C>A	13.37:g.49281445C>A						CYSLTR2_uc010acy.1_Silent_p.I164I|CYSLTR2_uc010acz.1_Silent_p.I164I|CYSLTR2_uc010ada.1_Silent_p.I164I|CYSLTR2_uc010adb.1_Silent_p.I164I|CYSLTR2_uc010adc.1_Silent_p.I164I|CYSLTR2_uc010add.1_Silent_p.I164I|CYSLTR2_uc010acw.1_Silent_p.I164I|CYSLTR2_uc001vck.2_Silent_p.I164I	p.I164I	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	6	1175	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	164			Helical; Name=4; (Potential).		Q9HCQ2	Silent	SNP	ENST00000282018.3	37	c.492C>A	CCDS9412.1																																																																																				0.493	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			53	65	1	0	5.14e-22	1.05e-21	53	65				
NEK5	341676	broad.mit.edu	37	13	52676308	52676308	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:52676308G>A	ENST00000355568.4	-	10	869	c.730C>T	c.(730-732)Cct>Tct	p.P244S		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CGGTCTCGAGGAGATACTTGA	0.423																																						uc001vge.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(730-732)CCT>TCT		NIMA-related kinase 5							149.0	167.0	161.0					13																	52676308		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52676308G>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.730C>T	13.37:g.52676308G>A	ENSP00000347767:p.Pro244Ser					NEK5_uc001vgf.2_Missense_Mutation_p.P244S	p.P244S	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	10	870	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	244			Protein kinase.		Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.730C>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483063	0.44147	.	.	ENSG00000197168	ENST00000355568	T	0.36878	1.23	5.64	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169374	0.41605	D	0.000845	T	0.57562	0.2062	M	0.82433	2.59	0.44104	D	0.996879	D	0.69078	0.997	D	0.63283	0.913	T	0.62172	-0.6910	10	0.62326	D	0.03	.	9.8242	0.40901	0.0727:0.141:0.7864:0.0	.	244	Q6P3R8	NEK5_HUMAN	S	244	ENSP00000347767:P244S	ENSP00000347767:P244S	P	-	1	0	NEK5	51574309	1.000000	0.71417	0.850000	0.33497	0.012000	0.07955	4.988000	0.63863	1.330000	0.45394	0.563000	0.77884	CCT		0.423	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		5	149	0	0	0	0	5	149				
PCDH17	27253	broad.mit.edu	37	13	58208274	58208274	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:58208274G>T	ENST00000377918.3	+	1	1620	c.1594G>T	c.(1594-1596)Ggg>Tgg	p.G532W		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	532	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(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCCACGAACGGGGCCATCTA	0.587																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1594-1596)GGG>TGG		protocadherin 17 precursor							54.0	52.0	53.0					13																	58208274		2203	4300	6503	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208274G>T	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1594G>T	13.37:g.58208274G>T	ENSP00000367151:p.Gly532Trp					PCDH17_uc010aec.1_Missense_Mutation_p.G532W	p.G532W	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2486	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	532			Extracellular (Potential).|Cadherin 5.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1594G>T	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449884	0.63290	.	.	ENSG00000118946	ENST00000377918	D	0.91521	-2.86	5.88	5.88	0.94601	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.97720	0.9252	H	0.98918	4.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98614	1.0664	9	.	.	.	.	20.2405	0.98372	0.0:0.0:1.0:0.0	.	532;532	O14917-2;O14917	.;PCD17_HUMAN	W	532	ENSP00000367151:G532W	.	G	+	1	0	PCDH17	57106275	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	9.869000	0.99810	2.797000	0.96272	0.561000	0.74099	GGG		0.587	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		13	17	1	0	0.000151284	0.00023073	13	17				
PCDH17	27253	broad.mit.edu	37	13	58208540	58208540	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:58208540C>A	ENST00000377918.3	+	1	1886	c.1860C>A	c.(1858-1860)agC>agA	p.S620R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	620	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)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCGGCGAGAGCGGGCGTCTCA	0.662																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1		NA																	0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1858-1860)AGC>AGA		protocadherin 17 precursor							50.0	49.0	50.0					13																	58208540		2202	4297	6499	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208540C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1860C>A	13.37:g.58208540C>A	ENSP00000367151:p.Ser620Arg					PCDH17_uc010aec.1_Missense_Mutation_p.S620R	p.S620R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2752	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	620			Extracellular (Potential).|Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1860C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534662	0.45073	.	.	ENSG00000118946	ENST00000377918	T	0.51071	0.72	5.36	4.52	0.55395	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.75777	2.31	0.49483	D	0.999793	D;D	0.76494	0.999;0.999	D;D	0.76575	0.971;0.988	T	0.64980	-0.6279	9	.	.	.	.	8.64	0.33972	0.0:0.7551:0.0:0.2449	.	620;620	O14917-2;O14917	.;PCD17_HUMAN	R	620	ENSP00000367151:S620R	.	S	+	3	2	PCDH17	57106541	0.977000	0.34250	1.000000	0.80357	0.992000	0.81027	0.189000	0.17037	1.251000	0.43983	0.561000	0.74099	AGC		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		28	34	1	0	1.77e-15	3.45e-15	28	34				
UGGT2	55757	broad.mit.edu	37	13	96599374	96599374	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:96599374C>T	ENST00000376747.3	-	15	1664	c.1594G>A	c.(1594-1596)Gat>Aat	p.D532N		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	532					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ACTCCAGCATCATTTGCTCCA	0.343																																						uc001vmt.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1594-1596)GAT>AAT		UDP-glucose ceramide glucosyltransferase-like 2							83.0	86.0	85.0					13																	96599374		2202	4299	6501	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96599374C>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.1594G>A	13.37:g.96599374C>T	ENSP00000365938:p.Asp532Asn						p.D532N	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			15	1764	-			532					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.1594G>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146516	0.94603	.	.	ENSG00000102595	ENST00000376747	T	0.41065	1.01	5.54	5.54	0.83059	.	0.092746	0.64402	D	0.000001	T	0.68888	0.3050	M	0.82923	2.615	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.72747	-0.4200	10	0.87932	D	0	-13.3172	19.8284	0.96626	0.0:1.0:0.0:0.0	.	532	Q9NYU1	UGGG2_HUMAN	N	532	ENSP00000365938:D532N	ENSP00000365938:D532N	D	-	1	0	UGGT2	95397375	0.998000	0.40836	0.940000	0.37924	0.949000	0.60115	4.056000	0.57448	2.751000	0.94390	0.585000	0.79938	GAT		0.343	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		23	33	0	0	0	0	23	33				
FAM155A	728215	broad.mit.edu	37	13	108518792	108518793	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:108518792_108518793CA>AG	ENST00000375915.2	-	1	290_291	c.152_153TG>CT	c.(151-153)cTG>cCT	p.L51P		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	51						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GATCAGAGAGCAGGACTGTGAA	0.599																																						uc001vql.2		NA																	0				skin(1)	1						c.(151-153)CTG>CCT		family with sequence similarity 155, member A																																				SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518792_108518793CA>AG	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.152_153delinsAG	13.37:g.108518792_108518793delinsAG	ENSP00000365080:p.Leu51Pro						p.L51P	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	668_669	-			51			Helical; (Potential).		B2RUV1|B7Z334	Missense_Mutation	DNP	ENST00000375915.2	37	c.152_153TG>CT	CCDS32006.1																																																																																				0.599	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		39	80	0	0	0	0	39	80				
F7	2155	broad.mit.edu	37	13	113770072	113770072	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:113770072G>T	ENST00000375581.3	+	6	564	c.529G>T	c.(529-531)Ggg>Tgg	p.G177W	F7_ENST00000541084.1_Missense_Mutation_p.G108W|F7_ENST00000346342.3_Missense_Mutation_p.G155W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	177	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.		G -> R (in FA7D). {ECO:0000269|PubMed:19751712}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTGCCACGAGGGGTACTCTCT	0.602																																						uc001vsv.2		NA																	0					0	GRCh37	CM041344	F7	M		c.(529-531)GGG>TGG		coagulation factor VII isoform a precursor	Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)						65.0	55.0	58.0					13																	113770072		2203	4300	6503	SO:0001583	missense	2155				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity	g.chr13:113770072G>T		CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.529G>T	13.37:g.113770072G>T	ENSP00000364731:p.Gly177Trp					F7_uc010agp.1_Missense_Mutation_p.G170W|F7_uc001vsw.2_Missense_Mutation_p.G155W|F7_uc010tjt.1_Missense_Mutation_p.G108W	p.G177W	NM_000131	NP_000122	P08709	FA7_HUMAN	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		6	580	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	177		G -> R (in FA7D).	EGF-like 2.		B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	ENST00000375581.3	37	c.529G>T	CCDS9528.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708280	0.48412	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.81821	-1.54;-1.54;-1.54	4.3	4.3	0.51218	Epidermal growth factor-like (1);	0.065026	0.64402	D	0.000009	D	0.94026	0.8086	H	0.99299	4.505	0.38651	D	0.951844	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.998;0.997	D	0.97262	0.9905	10	0.87932	D	0	.	15.1403	0.72607	0.0:0.0:1.0:0.0	.	108;108;155;177	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	W	155;108;177	ENSP00000329546:G155W;ENSP00000442051:G108W;ENSP00000364731:G177W	ENSP00000329546:G155W	G	+	1	0	F7	112818073	0.997000	0.39634	0.440000	0.26846	0.066000	0.16364	5.673000	0.68109	2.205000	0.71048	0.563000	0.77884	GGG		0.602	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045838.4	NM_000131		7	24	1	0	0.00198382	0.0028924	7	24				
POTEG	404785	broad.mit.edu	37	14	19553561	19553561	+	Missense_Mutation	SNP	C	C	G	rs556940280|rs549202869	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:19553561C>G	ENST00000409832.3	+	1	197	c.145C>G	c.(145-147)Cac>Gac	p.H49D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	49										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TTCTGGAGACCACGACGATTC	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		47926	0.0		0.0	False		,,,				2504	0.0					uc001vuz.1		NA																	0				ovary(1)	1						c.(145-147)CAC>GAC		POTE ankyrin domain family, member G							81.0	110.0	101.0					14																	19553561		1751	3589	5340	SO:0001583	missense	404785							g.chr14:19553561C>G		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.145C>G	14.37:g.19553561C>G	ENSP00000386971:p.His49Asp					POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	p.H49D	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN			1	197	+			49					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.145C>G	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	c	4.546	0.101377	0.08731	.	.	ENSG00000222036	ENST00000409832	T	0.27402	1.67	.	.	.	.	.	.	.	.	T	0.19886	0.0478	L	0.29908	0.895	0.09310	N	1	B	0.28820	0.224	B	0.27500	0.08	T	0.23404	-1.0189	7	0.72032	D	0.01	.	.	.	.	.	49	Q6S5H5	POTEG_HUMAN	D	49	ENSP00000386971:H49D	ENSP00000386971:H49D	H	+	1	0	POTEG	18623561	0.002000	0.14202	0.020000	0.16555	0.020000	0.10135	0.411000	0.21115	0.162000	0.19483	0.165000	0.16767	CAC		0.607	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		24	556	0	0	0	0	24	556				
OR4Q3	441669	broad.mit.edu	37	14	20216334	20216334	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20216334C>A	ENST00000331723.1	+	1	748	c.748C>A	c.(748-750)Ctg>Atg	p.L250M		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	250						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTGGTCAGCCTGATCTTCGT	0.453																																						uc010tkt.1		NA																	0				breast(3)	3						c.(748-750)CTG>ATG		olfactory receptor, family 4, subfamily Q,							175.0	169.0	171.0					14																	20216334		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20216334C>A	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.748C>A	14.37:g.20216334C>A	ENSP00000330049:p.Leu250Met						p.L250M	NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	748	+	all_cancers(95;0.00108)		250			Helical; Name=6; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.748C>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	7.694	0.691618	0.15039	.	.	ENSG00000182652	ENST00000331723	T	0.00296	8.24	4.1	0.795	0.18643	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32343	U	0.006222	T	0.00328	0.0010	L	0.45744	1.44	0.24881	N	0.992224	D	0.60575	0.988	D	0.67382	0.951	T	0.53129	-0.8482	10	0.54805	T	0.06	.	2.672	0.05070	0.2127:0.372:0.0:0.4153	.	250	Q8NH05	OR4Q3_HUMAN	M	250	ENSP00000330049:L250M	ENSP00000330049:L250M	L	+	1	2	OR4Q3	19286174	0.000000	0.05858	0.998000	0.56505	0.092000	0.18411	-0.876000	0.04201	0.324000	0.23333	-0.355000	0.07637	CTG		0.453	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			35	226	1	0	1.97e-18	3.94e-18	35	226				
OR4M1	441670	broad.mit.edu	37	14	20248502	20248502	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20248502C>A	ENST00000315957.4	+	1	102	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	7						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(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAATTACACCAAGGTGACAG	0.338																																						uc010tku.1		NA																	0					0						c.(19-21)ACC>ACA		olfactory receptor, family 4, subfamily M,							112.0	124.0	120.0					14																	20248502		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248502C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.21C>A	14.37:g.20248502C>A							p.T7T	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	21	+	all_cancers(95;0.00108)		7			Extracellular (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.21C>A	CCDS32021.1																																																																																				0.338	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			26	178	1	0	7.16e-05	0.000110528	26	178				
OR4M1	441670	broad.mit.edu	37	14	20248683	20248683	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20248683C>A	ENST00000315957.4	+	1	283	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	68						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(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TAATCTGGCCCTCCTTGATAT	0.423																																						uc010tku.1		NA																	0					0						c.(202-204)CTC>ATC		olfactory receptor, family 4, subfamily M,							302.0	320.0	314.0					14																	20248683		2203	4300	6503	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248683C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.202C>A	14.37:g.20248683C>A	ENSP00000319654:p.Leu68Ile						p.L68I	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	202	+	all_cancers(95;0.00108)		68			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.202C>A	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	10.10	1.257571	0.22965	.	.	ENSG00000176299	ENST00000315957	T	0.00557	6.62	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.00412	0.0013	N	0.16903	0.455	0.19300	N	0.999974	B	0.02656	0.0	B	0.04013	0.001	T	0.48091	-0.9065	10	0.42905	T	0.14	-12.3698	8.1314	0.31029	0.0:0.0987:0.0:0.9013	.	68	Q8NGD0	OR4M1_HUMAN	I	68	ENSP00000319654:L68I	ENSP00000319654:L68I	L	+	1	0	OR4M1	19318523	0.002000	0.14202	1.000000	0.80357	0.862000	0.49288	-0.135000	0.10420	0.767000	0.33267	-0.746000	0.03513	CTC		0.423	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			66	532	1	0	3.07e-33	6.5e-33	66	532				
OR4K2	390431	broad.mit.edu	37	14	20345255	20345255	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20345255A>T	ENST00000298642.2	+	1	865	c.829A>T	c.(829-831)Atc>Ttc	p.I277F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTTTATACCATCTTTACTCC	0.358																																						uc001vwh.1		NA																	0				ovary(2)|skin(2)	4						c.(829-831)ATC>TTC		olfactory receptor, family 4, subfamily K,							128.0	132.0	131.0					14																	20345255		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345255A>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.829A>T	14.37:g.20345255A>T	ENSP00000298642:p.Ile277Phe						p.I277F	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	829	+	all_cancers(95;0.00108)		277			Helical; Name=7; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.829A>T	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	16.04	3.010321	0.54361	.	.	ENSG00000165762	ENST00000298642	T	0.00164	8.64	5.16	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.128335	0.35040	N	0.003487	T	0.00328	0.0010	L	0.60957	1.885	0.36989	D	0.894714	D	0.67145	0.996	D	0.75020	0.985	T	0.82680	-0.0337	10	0.66056	D	0.02	.	9.3187	0.37950	0.9124:0.0:0.0876:0.0	.	277	Q8NGD2	OR4K2_HUMAN	F	277	ENSP00000298642:I277F	ENSP00000298642:I277F	I	+	1	0	OR4K2	19415095	0.001000	0.12720	1.000000	0.80357	0.926000	0.56050	0.074000	0.14662	2.165000	0.68154	0.482000	0.46254	ATC		0.358	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			23	119	0	0	0	0	23	119				
OR4K14	122740	broad.mit.edu	37	14	20482729	20482729	+	Silent	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20482729G>C	ENST00000305045.2	-	1	623	c.624C>G	c.(622-624)tcC>tcG	p.S208S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AACAGCTCAAGGAAAGCAACC	0.502																																						uc010tky.1		NA																	0				skin(2)|large_intestine(1)	3						c.(622-624)TCC>TCG		olfactory receptor, family 4, subfamily K,							89.0	80.0	83.0					14																	20482729		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482729G>C		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.624C>G	14.37:g.20482729G>C							p.S208S	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	624	-	all_cancers(95;0.00108)		208			Helical; Name=5; (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.624C>G	CCDS32027.1																																																																																				0.502	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			13	32	0	0	0	0	13	32				
OR4K13	390433	broad.mit.edu	37	14	20502160	20502160	+	Missense_Mutation	SNP	G	G	T	rs150686832		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20502160G>T	ENST00000315693.2	-	1	759	c.758C>A	c.(757-759)cCg>cAg	p.P253Q	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	253						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAAGACACACGGAGCAAAGAA	0.413																																						uc010tkz.1		NA																	0				ovary(2)	2						c.(757-759)CCG>CAG		olfactory receptor, family 4, subfamily K,							114.0	101.0	105.0					14																	20502160		2203	4300	6503	SO:0001583	missense	390433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20502160G>T		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.758C>A	14.37:g.20502160G>T	ENSP00000319322:p.Pro253Gln						p.P253Q	NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	758	-	all_cancers(95;0.00108)		253			Helical; Name=6; (Potential).		Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	c.758C>A	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	11.67	1.708321	0.30322	.	.	ENSG00000176253	ENST00000315693	T	0.00211	8.54	3.46	3.46	0.39613	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	U	0.001546	T	0.00724	0.0024	M	0.91510	3.215	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.17198	-1.0377	10	0.87932	D	0	.	13.8418	0.63444	0.0:0.0:1.0:0.0	.	253	Q8NH42	OR4KD_HUMAN	Q	253	ENSP00000319322:P253Q	ENSP00000319322:P253Q	P	-	2	0	OR4K13	19572000	0.210000	0.23517	0.021000	0.16686	0.038000	0.13279	1.985000	0.40668	1.757000	0.51966	0.514000	0.50259	CCG		0.413	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1			22	46	1	0	2.89e-11	5.25e-11	22	46				
OR4L1	122742	broad.mit.edu	37	14	20528986	20528986	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20528986A>G	ENST00000315683.1	+	1	783	c.783A>G	c.(781-783)ccA>ccG	p.P261P		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	261						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(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGTTTGGCCATTCAGTAGTT	0.403																																						uc001vwn.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(781-783)CCA>CCG		olfactory receptor, family 4, subfamily L,							117.0	109.0	112.0					14																	20528986		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528986A>G		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.783A>G	14.37:g.20528986A>G							p.P261P	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	783	+	all_cancers(95;0.00108)		261			Extracellular (Potential).		Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.783A>G	CCDS32029.1																																																																																				0.403	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			23	87	0	0	0	0	23	87				
OR11G2	390439	broad.mit.edu	37	14	20666322	20666322	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20666322C>T	ENST00000357366.3	+	1	828	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GAAAGGCTTTCTCCACCTGTG	0.517																																						uc010tlb.1		NA																	0				ovary(1)|skin(1)	2						c.(826-828)TTC>TTT		olfactory receptor, family 11, subfamily G,							179.0	172.0	174.0					14																	20666322		2203	4300	6503	SO:0001819	synonymous_variant	390439				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20666322C>T		CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.828C>T	14.37:g.20666322C>T							p.F276F	NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	828	+	all_cancers(95;0.00108)		276			Helical; Name=6; (Potential).		Q6IF09|Q96R33	Silent	SNP	ENST00000357366.3	37	c.828C>T	CCDS32032.1																																																																																				0.517	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			57	145	0	0	0	0	57	145				
OR11H6	122748	broad.mit.edu	37	14	20692320	20692320	+	Missense_Mutation	SNP	C	C	A	rs373349359		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:20692320C>A	ENST00000315519.2	+	1	530	c.452C>A	c.(451-453)cCc>cAc	p.P151H		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	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)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTACACTACCCCTCCATCATG	0.423																																						uc010tlc.1		NA																	0				ovary(2)|skin(1)	3						c.(451-453)CCC>CAC		olfactory receptor, family 11, subfamily H,							131.0	129.0	130.0					14																	20692320		2203	4300	6503	SO:0001583	missense	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692320C>A		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.452C>A	14.37:g.20692320C>A	ENSP00000319071:p.Pro151His						p.P151H	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	452	+	all_cancers(95;0.00108)		151			Cytoplasmic (Potential).		Q6IF08	Missense_Mutation	SNP	ENST00000315519.2	37	c.452C>A	CCDS32033.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085381	0.36758	.	.	ENSG00000176219	ENST00000315519	T	0.02345	4.33	4.97	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000081	T	0.12305	0.0299	M	0.70108	2.13	0.27973	N	0.936348	D	0.76494	0.999	D	0.68353	0.957	T	0.01015	-1.1480	10	0.72032	D	0.01	.	12.2519	0.54603	0.1714:0.8286:0.0:0.0	.	151	Q8NGC7	O11H6_HUMAN	H	151	ENSP00000319071:P151H	ENSP00000319071:P151H	P	+	2	0	OR11H6	19762160	0.000000	0.05858	0.999000	0.59377	0.385000	0.30292	-0.244000	0.08903	1.267000	0.44247	0.442000	0.29010	CCC		0.423	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			40	77	1	0	5.72e-15	1.11e-14	40	77				
OR6S1	341799	broad.mit.edu	37	14	21109748	21109748	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:21109748G>T	ENST00000320704.3	-	1	102	c.103C>A	c.(103-105)Ctt>Att	p.L35I		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	35						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(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		AGATAGACAAGAAGAAACACA	0.478																																						uc001vxv.1		NA																	0				ovary(1)|skin(1)	2						c.(103-105)CTT>ATT		olfactory receptor, family 6, subfamily S,							102.0	102.0	102.0					14																	21109748		2203	4300	6503	SO:0001583	missense	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109748G>T	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.103C>A	14.37:g.21109748G>T	ENSP00000313110:p.Leu35Ile						p.L35I	NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	103	-	all_cancers(95;0.00304)		35			Helical; Name=1; (Potential).		Q6IFJ9	Missense_Mutation	SNP	ENST00000320704.3	37	c.103C>A	CCDS32038.1	.	.	.	.	.	.	.	.	.	.	G	4.190	0.033929	0.08101	.	.	ENSG00000181803	ENST00000320704	T	0.00433	7.43	5.84	3.32	0.38043	.	0.352012	0.20713	N	0.087050	T	0.00178	0.0005	N	0.05259	-0.085	0.09310	N	1	B	0.31174	0.311	B	0.32677	0.15	T	0.37361	-0.9709	10	0.34782	T	0.22	-3.49	4.755	0.13078	0.1384:0.0:0.5372:0.3244	.	35	Q8NH40	OR6S1_HUMAN	I	35	ENSP00000313110:L35I	ENSP00000313110:L35I	L	-	1	0	OR6S1	20179588	0.004000	0.15560	0.042000	0.18584	0.012000	0.07955	-0.029000	0.12329	0.433000	0.26313	0.655000	0.94253	CTT		0.478	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			37	93	1	0	2.47e-13	4.65e-13	37	93				
LRFN5	145581	broad.mit.edu	37	14	42355978	42355978	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:42355978C>A	ENST00000298119.4	+	3	1339	c.150C>A	c.(148-150)gaC>gaA	p.D50E	LRFN5_ENST00000554120.1_Missense_Mutation_p.D50E|LRFN5_ENST00000554171.1_Missense_Mutation_p.D50E	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	50	LRRNT.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAAACATTGACAGAAGAACTG	0.413										HNSCC(30;0.082)																												uc001wvm.2		NA																	0				ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(148-150)GAC>GAA		leucine rich repeat and fibronectin type III							73.0	65.0	68.0					14																	42355978		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42355978C>A	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.150C>A	14.37:g.42355978C>A	ENSP00000298119:p.Asp50Glu	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.D50E	p.D50E	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1348	+			50			Extracellular (Potential).|LRRNT.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.150C>A	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	16.12	3.033178	0.54896	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51817	0.69;0.69;0.69	5.56	5.56	0.83823	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.64402	D	0.000012	T	0.55305	0.1912	M	0.74647	2.275	0.58432	D	0.999997	P;B	0.36282	0.546;0.201	B;B	0.40165	0.321;0.267	T	0.59825	-0.7381	10	0.59425	D	0.04	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	50;50	G3V364;Q96NI6	.;LRFN5_HUMAN	E	50	ENSP00000298119:D50E;ENSP00000451897:D50E;ENSP00000451067:D50E	ENSP00000298119:D50E	D	+	3	2	LRFN5	41425728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.595000	0.87683	0.650000	0.86243	GAC		0.413	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		15	23	1	0	1.5e-05	2.37e-05	15	23				
FANCM	57697	broad.mit.edu	37	14	45669148	45669148	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:45669148T>C	ENST00000267430.5	+	23	6169	c.6084T>C	c.(6082-6084)taT>taC	p.Y2028Y	FANCM_ENST00000542564.2_Silent_p.Y2002Y	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2028	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATATTCACTATGTATTTGACA	0.338								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NA																	0				ovary(3)|lung(2)|breast(2)	7						c.(6082-6084)TAT>TAC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							96.0	95.0	95.0					14																	45669148		2203	4295	6498	SO:0001819	synonymous_variant	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45669148T>C	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.6084T>C	14.37:g.45669148T>C						FANCM_uc010anf.2_Silent_p.Y2002Y|FANCM_uc001wwe.3_Silent_p.Y1564Y|FANCM_uc010ang.2_Silent_p.Y1277Y	p.Y2028Y	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			23	6183	+			2028			Interaction with FAAP24 and EME1.		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.6084T>C	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	T	5.969	0.362710	0.11296	.	.	ENSG00000187790	ENST00000554809	.	.	.	5.93	0.901	0.19284	.	.	.	.	.	T	0.35219	0.0924	.	.	.	0.21184	N	0.999763	.	.	.	.	.	.	T	0.27640	-1.0068	4	.	.	.	.	9.6019	0.39609	0.0:0.3561:0.0:0.6439	.	.	.	.	R	996	.	.	C	+	1	0	FANCM	44738898	0.005000	0.15991	0.113000	0.21522	0.988000	0.76386	-0.020000	0.12525	0.162000	0.19483	0.460000	0.39030	TGT		0.338	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		23	56	0	0	0	0	23	56				
NEMF	9147	broad.mit.edu	37	14	50312932	50312932	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:50312932C>A	ENST00000298310.5	-	4	732	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L	NEMF_ENST00000545773.1_Intron|NEMF_ENST00000546046.1_Missense_Mutation_p.V95L|NEMF_ENST00000556672.1_Missense_Mutation_p.V95L|AL627171.1_ENST00000358799.1_5'Flank			O60524	NEMF_HUMAN	nuclear export mediator factor	95					nuclear export (GO:0051168)	nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						ATTCTATCCACACCAAGCTGT	0.358																																						uc001wxc.2		NA																	0					0						c.(283-285)GTG>TTG		serologically defined colon cancer antigen 1							107.0	102.0	104.0					14																	50312932		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50312932C>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.283G>T	14.37:g.50312932C>A	ENSP00000298310:p.Val95Leu					SDCCAG1_uc010anj.1_Missense_Mutation_p.V95L|SDCCAG1_uc010tqi.1_Missense_Mutation_p.V95L|SDCCAG1_uc001wxe.2_Intron|SDCCAG1_uc010anq.1_5'UTR	p.V95L	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	4	351	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	95					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.283G>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050489	0.55218	.	.	ENSG00000165525	ENST00000298310;ENST00000546046;ENST00000556672	T;T;T	0.38401	1.14;1.14;1.14	5.29	5.29	0.74685	Fibronectin-binding A, N-terminal (1);	0.197972	0.43747	D	0.000526	T	0.39145	0.1067	M	0.75615	2.305	0.80722	D	1	B;P;B	0.35700	0.082;0.516;0.24	B;B;B	0.38921	0.053;0.187;0.285	T	0.18935	-1.0321	10	0.10377	T	0.69	-9.2455	13.2785	0.60200	0.0:0.9213:0.0:0.0787	.	95;95;95	O60524-3;O60524-5;O60524	.;.;NEMF_HUMAN	L	95	ENSP00000298310:V95L;ENSP00000441016:V95L;ENSP00000452174:V95L	ENSP00000298310:V95L	V	-	1	0	NEMF	49382682	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.537000	0.45702	2.473000	0.83533	0.491000	0.48974	GTG		0.358	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1	NM_004713		13	32	1	0	2.32e-09	4.08e-09	13	32				
NIN	51199	broad.mit.edu	37	14	51288662	51288662	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:51288662T>G	ENST00000382041.3	-	3	303	c.113A>C	c.(112-114)cAc>cCc	p.H38P	NIN_ENST00000530997.2_Missense_Mutation_p.H38P|NIN_ENST00000382043.4_Missense_Mutation_p.H38P|NIN_ENST00000324330.9_Missense_Mutation_p.H38P|RP11-286O18.1_ENST00000555966.1_RNA|NIN_ENST00000453196.1_Missense_Mutation_p.H38P|NIN_ENST00000389868.3_Missense_Mutation_p.H38P|NIN_ENST00000245441.5_Missense_Mutation_p.H38P	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	38	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GCTCAACATGTGGCAAAGGTC	0.587			T	PDGFRB	MPD																																	uc001wym.2		NA		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(112-114)CAC>CCC		ninein isoform 5							267.0	247.0	254.0					14																	51288662		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51288662T>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.113A>C	14.37:g.51288662T>G	ENSP00000371472:p.His38Pro					NIN_uc001wyi.2_Missense_Mutation_p.H38P|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.H38P|NIN_uc010tqp.1_Missense_Mutation_p.H44P|NIN_uc001wyo.2_Missense_Mutation_p.H38P|NIN_uc001wyp.1_5'UTR	p.H38P	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			3	304	-	all_epithelial(31;0.00244)|Breast(41;0.127)		38			EF-hand 1.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.113A>C	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665726	0.67700	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000496749	T;T;T;T;T;T;T	0.68624	1.18;-0.34;-0.34;-0.34;-0.34;-0.34;2.0	5.81	5.81	0.92471	EF-hand-like domain (1);	0.194372	0.56097	D	0.000036	T	0.74442	0.3717	L	0.38175	1.15	0.43522	D	0.995793	D;D;D;D;D	0.76494	0.999;0.999;0.998;0.998;0.998	D;D;D;D;D	0.74348	0.977;0.983;0.929;0.915;0.952	T	0.76361	-0.2987	10	0.59425	D	0.04	-16.3899	14.9939	0.71415	0.0:0.0:0.0:1.0	.	44;38;38;38;38	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	P	38;38;38;38;44;38;38;38;38	ENSP00000245441:H38P;ENSP00000374518:H38P;ENSP00000371474:H38P;ENSP00000371472:H38P;ENSP00000324210:H38P;ENSP00000412391:H38P;ENSP00000431826:H38P	ENSP00000245441:H38P	H	-	2	0	NIN	50358412	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.932000	0.48940	2.217000	0.71921	0.533000	0.62120	CAC		0.587	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		67	244	0	0	0	0	67	244				
PYGL	5836	broad.mit.edu	37	14	51381466	51381466	+	Missense_Mutation	SNP	G	G	T	rs113993980		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:51381466G>T	ENST00000216392.7	-	12	1803	c.1471C>A	c.(1471-1473)Cgc>Agc	p.R491S	PYGL_ENST00000532462.1_Missense_Mutation_p.R491S|PYGL_ENST00000544180.2_Missense_Mutation_p.R457S|RP11-218E20.5_ENST00000557343.1_RNA	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	491					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	AGGAGCCAGCGCCTTGGAGTG	0.498																																						uc001wyu.2		NA																	0				skin(1)	1						c.(1471-1473)CGC>AGC		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						145.0	121.0	129.0					14																	51381466		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51381466G>T		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.1471C>A	14.37:g.51381466G>T	ENSP00000216392:p.Arg491Ser					PYGL_uc010tqq.1_Missense_Mutation_p.R457S|PYGL_uc001wyv.2_Missense_Mutation_p.R165S	p.R491S	NM_002863	NP_002854	P06737	PYGL_HUMAN			12	1598	-	all_epithelial(31;0.00825)|Breast(41;0.148)		491					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.1471C>A	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983902	0.93044	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.96073	-3.9;-3.9;-3.9	5.77	5.77	0.91146	.	0.049746	0.85682	D	0.000000	D	0.98887	0.9623	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	D	0.99139	1.0855	10	0.87932	D	0	-9.6817	19.335	0.94312	0.0:0.0:1.0:0.0	.	457;457;491	F5H816;B4DUB7;P06737	.;.;PYGL_HUMAN	S	491;457;491	ENSP00000431657:R491S;ENSP00000443787:R457S;ENSP00000216392:R491S	ENSP00000216392:R491S	R	-	1	0	PYGL	50451216	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.869000	0.99810	2.890000	0.99128	0.650000	0.86243	CGC		0.498	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		17	57	1	0	2.35e-11	4.29e-11	17	57				
PTGER2	5732	broad.mit.edu	37	14	52781592	52781592	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:52781592G>C	ENST00000245457.5	+	1	480	c.326G>C	c.(325-327)tGc>tCc	p.C109S	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	109					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular response to prostaglandin E stimulus (GO:0071380)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)|response to lipopolysaccharide (GO:0032496)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	AGCCGCGCGTGCACCTACTTC	0.647																																						uc001wzr.2		NA																	0				lung(1)|breast(1)	2						c.(325-327)TGC>TCC		prostaglandin E receptor 2 (subtype EP2), 53kDa	Alprostadil(DB00770)|Iloprost(DB01088)						46.0	42.0	44.0					14																	52781592		2197	4283	6480	SO:0001583	missense	5732					integral to plasma membrane	prostaglandin E receptor activity	g.chr14:52781592G>C		CCDS9708.1	14q22	2012-08-08	2002-08-29		ENSG00000125384	ENSG00000125384		"""GPCR / Class A : Prostanoid receptors"""	9594	protein-coding gene	gene with protein product		176804	"""prostaglandin E receptor 2 (subtype EP2), 53kD"""			8250933, 7759114	Standard	NM_000956		Approved	EP2	uc001wzr.3	P43116	OTTHUMG00000140300	ENST00000245457.5:c.326G>C	14.37:g.52781592G>C	ENSP00000245457:p.Cys109Ser						p.C109S	NM_000956	NP_000947	P43116	PE2R2_HUMAN			1	577	+	Breast(41;0.0639)|all_epithelial(31;0.0729)		109			Extracellular (Potential).		D3DSC0|Q52LG8	Missense_Mutation	SNP	ENST00000245457.5	37	c.326G>C	CCDS9708.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870250	0.91587	.	.	ENSG00000125384	ENST00000245457	T	0.62105	0.05	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.82181	0.4981	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85797	0.1371	10	0.87932	D	0	-17.5679	16.3658	0.83321	0.0:0.0:1.0:0.0	.	109	P43116	PE2R2_HUMAN	S	109	ENSP00000245457:C109S	ENSP00000245457:C109S	C	+	2	0	PTGER2	51851342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.768000	0.98965	2.523000	0.85059	0.563000	0.77884	TGC		0.647	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1			23	67	0	0	0	0	23	67				
SLC35F4	341880	broad.mit.edu	37	14	58056150	58056150	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:58056150A>G	ENST00000339762.6	-	3	478	c.479T>C	c.(478-480)aTg>aCg	p.M160T	SLC35F4_ENST00000554729.1_Start_Codon_SNP_p.M1T|SLC35F4_ENST00000556826.1_Missense_Mutation_p.M124T			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	160					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						CTTCAGAACCATGGACGTGCA	0.443																																						uc001xdb.1		NA																	0				ovary(2)	2						c.(478-480)ATG>ACG		solute carrier family 35, member F4							64.0	67.0	66.0					14																	58056150		2012	4193	6205	SO:0001583	missense	341880							g.chr14:58056150A>G			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.479T>C	14.37:g.58056150A>G	ENSP00000342518:p.Met160Thr					SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Missense_Mutation_p.M1T	p.M160T	NM_001080455	NP_001073924					3	479	-								A6NDQ3	Missense_Mutation	SNP	ENST00000339762.6	37	c.479T>C		.	.	.	.	.	.	.	.	.	.	A	12.16	1.854187	0.32791	.	.	ENSG00000151812	ENST00000556826;ENST00000339762;ENST00000554729	T;T;T	0.42131	1.13;1.07;0.98	6.06	2.48	0.30137	.	1.032710	0.07624	N	0.927574	T	0.20820	0.0501	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25257	-1.0137	10	0.09590	T	0.72	0.0771	8.5223	0.33285	0.5782:0.0:0.4218:0.0	.	160	A4IF30	S35F4_HUMAN	T	124;160;1	ENSP00000452086:M124T;ENSP00000342518:M160T;ENSP00000451990:M1T	ENSP00000342518:M160T	M	-	2	0	SLC35F4	57125903	0.134000	0.22483	0.202000	0.23494	0.937000	0.57800	2.859000	0.48364	0.189000	0.20188	0.533000	0.62120	ATG		0.443	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding		XM_292260		11	29	0	0	0	0	11	29				
DHRS7	51635	broad.mit.edu	37	14	60622799	60622799	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:60622799G>T	ENST00000216500.5	-	3	660	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.Q19K|DHRS7_ENST00000557185.1_Missense_Mutation_p.Q69K|DHRS7_ENST00000553986.1_5'Flank|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	69						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TTAGACAACTGGTAAGCCAGC	0.478																																						uc001xes.2		NA																	0				ovary(1)	1						c.(205-207)CAG>AAG		dehydrogenase/reductase (SDR family) member 7							122.0	115.0	118.0					14																	60622799		2203	4300	6503	SO:0001583	missense	51635						binding|oxidoreductase activity	g.chr14:60622799G>T	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.205C>A	14.37:g.60622799G>T	ENSP00000216500:p.Gln69Lys					C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Missense_Mutation_p.Q19K|DHRS7_uc001xeu.2_Missense_Mutation_p.Q69K	p.Q69K	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	2	389	-			69			NAD (By similarity).		B2R896|Q9UKU2	Missense_Mutation	SNP	ENST00000216500.5	37	c.205C>A	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038345	0.75617	.	.	ENSG00000100612	ENST00000216500;ENST00000360557;ENST00000557185;ENST00000536410	D;D;D	0.87103	-2.21;-2.21;-2.21	5.58	5.58	0.84498	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87696	0.6242	N	0.17631	0.505	0.80722	D	1	D;D	0.63880	0.981;0.993	P;D	0.63192	0.74;0.912	D	0.84382	0.0550	10	0.21014	T	0.42	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	69;69	F8W9Q4;Q9Y394	.;DHRS7_HUMAN	K	69;69;69;19	ENSP00000216500:Q69K;ENSP00000451882:Q69K;ENSP00000442993:Q19K	ENSP00000216500:Q69K	Q	-	1	0	DHRS7	59692552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.610000	0.82949	2.906000	0.99361	0.655000	0.94253	CAG		0.478	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		23	67	1	0	2.89e-11	5.25e-11	23	67				
SGPP1	81537	broad.mit.edu	37	14	64152979	64152979	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:64152979T>A	ENST00000247225.6	-	3	1264	c.1170A>T	c.(1168-1170)ttA>ttT	p.L390F		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	390					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		TTTTGCAGGCTAAAGGAATGG	0.373																																						uc001xgj.2		NA																	0				central_nervous_system(1)	1						c.(1168-1170)TTA>TTT		sphingosine-1-phosphate phosphatase 1							157.0	146.0	150.0					14																	64152979		2203	4300	6503	SO:0001583	missense	81537					endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr14:64152979T>A	AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1170A>T	14.37:g.64152979T>A	ENSP00000247225:p.Leu390Phe						p.L390F	NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)	3	1264	-			390					B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	c.1170A>T	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	T	11.10	1.540032	0.27563	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	3.75	0.43078	.	0.261944	0.31156	N	0.008151	T	0.43166	0.1235	L	0.59436	1.845	0.47245	D	0.999363	P	0.48230	0.907	B	0.41036	0.346	T	0.35051	-0.9804	9	0.37606	T	0.19	-17.0258	4.5339	0.12019	0.0:0.4275:0.0:0.5725	.	390	Q9BX95	SGPP1_HUMAN	F	390	.	ENSP00000247225:L390F	L	-	3	2	SGPP1	63222732	0.991000	0.36638	1.000000	0.80357	0.994000	0.84299	0.329000	0.19698	1.122000	0.41944	0.533000	0.62120	TTA		0.373	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3	NM_030791		23	87	0	0	0	0	23	87				
ZFP36L1	677	broad.mit.edu	37	14	69257126	69257126	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:69257126C>A	ENST00000439696.2	-	2	442	c.141G>T	c.(139-141)ggG>ggT	p.G47G	ZFP36L1_ENST00000336440.3_Silent_p.G47G|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	47					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAGGGAAGCCCCCACCAGCAG	0.612											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NA																	0				ovary(1)	1						c.(139-141)GGG>GGT		butyrate response factor 1							25.0	25.0	25.0					14																	69257126		2203	4300	6503	SO:0001819	synonymous_variant	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69257126C>A	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.141G>T	14.37:g.69257126C>A			OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Silent_p.G47G	p.G47G	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	271	-			47					Q13851	Silent	SNP	ENST00000439696.2	37	c.141G>T	CCDS9791.1																																																																																				0.612	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1			9	22	1	0	0.000274275	0.000411185	9	22				
PCNX	22990	broad.mit.edu	37	14	71555910	71555910	+	Splice_Site	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:71555910A>T	ENST00000304743.2	+	30	5886	c.5440A>T	c.(5440-5442)Aat>Tat	p.N1814Y	PCNX_ENST00000439984.3_Splice_Site_p.N1703Y|PCNX_ENST00000238570.5_Splice_Site_p.N1742Y	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1814						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCTTAACAGTAATTTAGAGTC	0.383																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(5440-5442)AAT>TAT		pecanex-like 1							134.0	124.0	127.0					14																	71555910		2203	4300	6503	SO:0001630	splice_region_variant	22990					integral to membrane		g.chr14:71555910A>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.5439-1A>T	14.37:g.71555910A>T						PCNX_uc010are.1_Missense_Mutation_p.N1703Y|PCNX_uc010arf.1_Missense_Mutation_p.N602Y	p.N1814Y	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	30	5886	+			1814					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.5440A>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200900	0.79015	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.42900	0.96;0.96;0.96	5.77	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.56366	0.1980	L	0.47716	1.5	0.30075	N	0.809665	D;D;D	0.71674	0.993;0.997;0.998	P;D;D	0.73708	0.858;0.953;0.981	T	0.59364	-0.7468	10	0.66056	D	0.02	.	13.426	0.61026	0.869:0.131:0.0:0.0	.	1742;1703;1814	Q96RV3-3;B2RTR6;Q96RV3	.;.;PCX1_HUMAN	Y	1814;1742;1703	ENSP00000304192:N1814Y;ENSP00000238570:N1742Y;ENSP00000396617:N1703Y	ENSP00000238570:N1742Y	N	+	1	0	PCNX	70625663	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.867000	0.92314	1.098000	0.41479	0.533000	0.62120	AAT		0.383	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982	Missense_Mutation	14	53	0	0	0	0	14	53				
ABCD4	5826	broad.mit.edu	37	14	74759551	74759551	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:74759551T>C	ENST00000356924.4	-	9	979	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	ABCD4_ENST00000557554.1_Intron|ABCD4_ENST00000557588.1_3'UTR|AC005519.4_ENST00000554532.2_RNA|ABCD4_ENST00000298816.7_Missense_Mutation_p.Y175C	NM_005050.3	NP_005041.1	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D (ALD), member 4	279	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cobalamin metabolic process (GO:0009235)|transmembrane transport (GO:0055085)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GCTGCCCAGATAGTCAAAGGT	0.537																																						uc001xpr.2		NA																	0				upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4						c.(835-837)TAT>TGT		ATP-binding cassette, sub-family D, member 4							100.0	99.0	99.0					14																	74759551		2203	4300	6503	SO:0001583	missense	5826					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr14:74759551T>C	AF009746	CCDS9828.1	14q24	2012-03-14			ENSG00000119688	ENSG00000119688		"""ATP binding cassette transporters / subfamily D"""	68	protein-coding gene	gene with protein product		603214		PXMP1L		9266848, 9302272	Standard	NR_003256		Approved	PMP69, P70R, EST352188	uc001xpr.2	O14678	OTTHUMG00000171207	ENST00000356924.4:c.836A>G	14.37:g.74759551T>C	ENSP00000349396:p.Tyr279Cys					ABCD4_uc001xps.2_Missense_Mutation_p.Y120C|ABCD4_uc001xpt.2_Missense_Mutation_p.Y120C|ABCD4_uc010tur.1_Missense_Mutation_p.Y175C|ABCD4_uc001xpu.2_Missense_Mutation_p.Y16C|ABCD4_uc001xpv.2_RNA	p.Y279C	NM_005050	NP_005041	O14678	ABCD4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00153)	9	988	-			279			ABC transmembrane type-1.|Helical; (Potential).		A8K5L7|Q6IAQ0|Q96E75	Missense_Mutation	SNP	ENST00000356924.4	37	c.836A>G	CCDS9828.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798037	0.90538	.	.	ENSG00000119688	ENST00000356924;ENST00000298816;ENST00000537629	D;D	0.99863	-7.27;-7.27	5.69	5.69	0.88448	ABC transporter, N-terminal (1);ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);	0.000000	0.85682	D	0.000000	D	0.99871	0.9939	M	0.88105	2.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96336	0.9247	10	0.87932	D	0	.	15.9478	0.79806	0.0:0.0:0.0:1.0	.	175;175;279;279	F8W7M4;B7Z4V6;A8K5L7;O14678	.;.;.;ABCD4_HUMAN	C	279;175;16	ENSP00000349396:Y279C;ENSP00000298816:Y175C	ENSP00000298816:Y175C	Y	-	2	0	ABCD4	73829304	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.040000	0.89188	2.165000	0.68154	0.459000	0.35465	TAT		0.537	ABCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314382.1	NM_005050		22	47	0	0	0	0	22	47				
LTBP2	4053	broad.mit.edu	37	14	74969972	74969972	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:74969972T>A	ENST00000261978.4	-	33	5224	c.4838A>T	c.(4837-4839)gAc>gTc	p.D1613V	LTBP2_ENST00000556690.1_Missense_Mutation_p.D1569V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1613	TB 4.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCTCGCCGTCCTGGCAGCA	0.637																																						uc001xqa.2		NA																	0				liver(1)|skin(1)	2						c.(4837-4839)GAC>GTC		latent transforming growth factor beta binding							80.0	69.0	73.0					14																	74969972		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74969972T>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4838A>T	14.37:g.74969972T>A	ENSP00000261978:p.Asp1613Val						p.D1613V	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	33	5225	-			1613			TB 4.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.4838A>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.275246	0.23307	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91124	-2.79;-2.79	4.86	3.72	0.42706	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.43416	D	0.000568	D	0.83175	0.5197	N	0.08118	0	0.18873	N	0.999982	D	0.54964	0.969	P	0.55455	0.776	T	0.73091	-0.4092	10	0.15066	T	0.55	.	5.5471	0.17069	0.1914:0.086:0.0:0.7226	.	1613	Q14767	LTBP2_HUMAN	V	1613;1569	ENSP00000261978:D1613V;ENSP00000451477:D1569V	ENSP00000261978:D1613V	D	-	2	0	LTBP2	74039725	0.918000	0.31147	0.260000	0.24451	0.523000	0.34469	2.235000	0.43044	0.890000	0.36211	0.459000	0.35465	GAC		0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		19	35	0	0	0	0	19	35				
FLRT2	23768	broad.mit.edu	37	14	86087868	86087868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:86087868C>T	ENST00000330753.4	+	2	777	c.10C>T	c.(10-12)Cag>Tag	p.Q4*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.Q4*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	4					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AATGGGCCTACAGACCACAAA	0.443																																						uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(10-12)CAG>TAG		fibronectin leucine rich transmembrane protein 2							50.0	53.0	52.0					14																	86087868		2203	4300	6503	SO:0001587	stop_gained	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86087868C>T	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.10C>T	14.37:g.86087868C>T	ENSP00000332879:p.Gln4*					FLRT2_uc010atd.2_Nonsense_Mutation_p.Q4*	p.Q4*	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	777	+			4					A0AV84|B7ZLP3	Nonsense_Mutation	SNP	ENST00000330753.4	37	c.10C>T	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	41	8.939776	0.99010	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	.	.	.	5.88	3.86	0.44501	.	0.478827	0.21905	N	0.067387	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-3.2483	3.5778	0.07941	0.3014:0.4704:0.1316:0.0965	.	.	.	.	X	4	.	ENSP00000332879:Q4X	Q	+	1	0	FLRT2	85157621	0.996000	0.38824	0.998000	0.56505	0.999000	0.98932	2.821000	0.48065	1.459000	0.47892	0.655000	0.94253	CAG		0.443	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			24	73	0	0	0	0	24	73				
FLRT2	23768	broad.mit.edu	37	14	86088278	86088278	+	Silent	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:86088278G>C	ENST00000330753.4	+	2	1187	c.420G>C	c.(418-420)ctG>ctC	p.L140L	FLRT2_ENST00000554746.1_Silent_p.L140L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	140					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AGCTGCACCTGGATGACAACT	0.488																																						uc001xvr.2		NA																	0				ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4						c.(418-420)CTG>CTC		fibronectin leucine rich transmembrane protein 2							59.0	61.0	60.0					14																	86088278		2203	4300	6503	SO:0001819	synonymous_variant	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86088278G>C	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.420G>C	14.37:g.86088278G>C						FLRT2_uc010atd.2_Silent_p.L140L	p.L140L	NM_013231	NP_037363	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	1187	+			140			LRR 4.|Extracellular (Potential).		A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	c.420G>C	CCDS9877.1																																																																																				0.488	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			16	55	0	0	0	0	16	55				
SMEK1	55671	broad.mit.edu	37	14	91948115	91948115	+	Silent	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:91948115T>A	ENST00000554943.1	-	4	835	c.720A>T	c.(718-720)ctA>ctT	p.L240L	SMEK1_ENST00000554684.1_Silent_p.L240L|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Silent_p.L240L			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	240					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		CTGTTTTTGTTAGAAATTCCC	0.338																																						uc001xzn.2		NA																	0					0						c.(718-720)CTA>CTT		SMEK homolog 1, suppressor of mek1							173.0	161.0	165.0					14																	91948115		2203	4300	6503	SO:0001819	synonymous_variant	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91948115T>A	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.720A>T	14.37:g.91948115T>A						SMEK1_uc001xzm.2_Silent_p.L240L|SMEK1_uc001xzo.2_Silent_p.L240L|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_RNA|SMEK1_uc001xzq.1_Silent_p.L116L	p.L240L	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	4	1542	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	240					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Silent	SNP	ENST00000554943.1	37	c.720A>T		.	.	.	.	.	.	.	.	.	.	T	9.295	1.051574	0.19827	.	.	ENSG00000100796	ENST00000555470	.	.	.	6.03	0.643	0.17770	.	.	.	.	.	T	0.40297	0.1111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28427	-1.0044	4	.	.	.	-8.1676	0.6423	0.00812	0.2054:0.3312:0.1785:0.285	.	.	.	.	Y	35	.	.	N	-	1	0	SMEK1	91017868	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.594000	0.24014	0.500000	0.27991	0.533000	0.62120	AAC		0.338	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		20	54	0	0	0	0	20	54				
RIN3	79890	broad.mit.edu	37	14	93118666	93118666	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:93118666C>G	ENST00000216487.7	+	6	1431	c.1272C>G	c.(1270-1272)gaC>gaG	p.D424E	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	424	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTGAGGACACGCCCCGGG	0.642																																						uc001yap.2		NA																	0				lung(2)|ovary(1)	3						c.(1270-1272)GAC>GAG		Ras and Rab interactor 3							56.0	63.0	61.0					14																	93118666		2203	4300	6503	SO:0001583	missense	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118666C>G	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1272C>G	14.37:g.93118666C>G	ENSP00000216487:p.Asp424Glu					RIN3_uc010auk.2_Missense_Mutation_p.D86E|RIN3_uc001yaq.2_Missense_Mutation_p.D349E|RIN3_uc001yar.1_Missense_Mutation_p.D86E|RIN3_uc001yas.1_Missense_Mutation_p.D86E	p.D424E	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN			6	1424	+		all_cancers(154;0.0701)	424			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Missense_Mutation	SNP	ENST00000216487.7	37	c.1272C>G	CCDS32144.1	.	.	.	.	.	.	.	.	.	.	C	1.769	-0.484907	0.04352	.	.	ENSG00000100599	ENST00000216487;ENST00000428147	T	0.04970	3.52	3.82	-0.767	0.11016	.	1.277500	0.05638	N	0.582954	T	0.05547	0.0146	L	0.43152	1.355	0.34251	D	0.678802	B;B;B;B	0.28324	0.134;0.004;0.002;0.207	B;B;B;B	0.32533	0.147;0.003;0.003;0.07	T	0.46911	-0.9157	10	0.07482	T	0.82	-13.8619	3.1182	0.06382	0.2464:0.2297:0.4246:0.0993	.	424;470;349;424	Q8TB24-4;Q86U22;Q6ZRC2;Q8TB24	.;.;.;RIN3_HUMAN	E	424;348	ENSP00000216487:D424E	ENSP00000216487:D424E	D	+	3	2	RIN3	92188419	0.092000	0.21681	0.091000	0.20842	0.063000	0.16089	0.374000	0.20501	0.196000	0.20367	0.313000	0.20887	GAC		0.642	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			22	50	0	0	0	0	22	50				
UNC79	57578	broad.mit.edu	37	14	94038416	94038416	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:94038416C>G	ENST00000393151.2	+	15	1932	c.1932C>G	c.(1930-1932)ttC>ttG	p.F644L	UNC79_ENST00000256339.4_Missense_Mutation_p.F467L|UNC79_ENST00000555664.1_Missense_Mutation_p.F644L|UNC79_ENST00000553484.1_Missense_Mutation_p.F644L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	644					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TAAAAGAATTCAGGGAAGTAT	0.398																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(1399-1401)TTC>TTG		hypothetical protein LOC57578							47.0	49.0	49.0					14																	94038416		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94038416C>G	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1932C>G	14.37:g.94038416C>G	ENSP00000376858:p.Phe644Leu					KIAA1409_uc001ybs.1_Missense_Mutation_p.F467L	p.F467L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	12	1484	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	644					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.1401C>G		.	.	.	.	.	.	.	.	.	.	C	6.519	0.464019	0.12402	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.73	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	N	0.04787	-0.16	0.41776	D	0.989795	D	0.58268	0.982	D	0.68943	0.961	T	0.13442	-1.0509	10	0.02654	T	1	-13.371	12.9202	0.58228	0.0:0.8645:0.0:0.1355	.	644	C9JQL1	.	L	467;644;644;644;644	ENSP00000256339:F467L;ENSP00000450868:F644L;ENSP00000451360:F644L;ENSP00000376858:F644L	ENSP00000256339:F467L	F	+	3	2	KIAA1409	93108169	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.636000	0.37144	1.429000	0.47314	0.650000	0.86243	TTC		0.398	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		12	40	0	0	0	0	12	40				
PRIMA1	145270	broad.mit.edu	37	14	94187840	94187840	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:94187840T>G	ENST00000393140.1	-	5	514	c.412A>C	c.(412-414)Agt>Cgt	p.S138R	PRIMA1_ENST00000316227.3_3'UTR|PRIMA1_ENST00000393143.1_Missense_Mutation_p.S138R	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	138					establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		TGCGAAGCACTCATGGGATAC	0.587																																						uc001ybw.1		NA																	0				large_intestine(1)|skin(1)	2						c.(412-414)AGT>CGT		proline rich membrane anchor 1 precursor							142.0	102.0	116.0					14																	94187840		2203	4300	6503	SO:0001583	missense	145270				neurotransmitter catabolic process	cell junction|integral to membrane|synapse		g.chr14:94187840T>G		CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.412A>C	14.37:g.94187840T>G	ENSP00000376848:p.Ser138Arg					PRIMA1_uc001ybx.1_RNA	p.S138R	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)	5	454	-		all_cancers(154;0.127)	138			Cytoplasmic (Potential).		Q86XR6	Missense_Mutation	SNP	ENST00000393140.1	37	c.412A>C	CCDS9912.1	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532707	0.45073	.	.	ENSG00000175785	ENST00000393140;ENST00000393143	.	.	.	4.65	4.65	0.58169	.	0.612223	0.14133	N	0.339250	T	0.43277	0.1240	N	0.19112	0.55	0.80722	D	1	B	0.21905	0.062	B	0.20955	0.032	T	0.39901	-0.9591	9	0.72032	D	0.01	-2.195	10.4897	0.44744	0.0:0.0:0.0:1.0	.	138	Q86XR5	PRIMA_HUMAN	R	138	.	ENSP00000376848:S138R	S	-	1	0	PRIMA1	93257593	1.000000	0.71417	0.991000	0.47740	0.661000	0.39034	2.778000	0.47726	1.735000	0.51646	0.482000	0.46254	AGT		0.587	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280658.1	NM_178013		14	36	0	0	0	0	14	36				
PPP4R4	57718	broad.mit.edu	37	14	94711942	94711942	+	Missense_Mutation	SNP	G	G	T	rs143566515		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:94711942G>T	ENST00000304338.3	+	13	1517	c.1363G>T	c.(1363-1365)Gat>Tat	p.D455Y		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	455					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGCTCTTATAGATCATCTTCC	0.313																																						uc001ycs.1		NA																	0				skin(3)|upper_aerodigestive_tract(1)	4						c.(1363-1365)GAT>TAT		HEAT-like repeat-containing protein isoform 1							92.0	94.0	93.0					14																	94711942		2203	4299	6502	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94711942G>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.1363G>T	14.37:g.94711942G>T	ENSP00000305924:p.Asp455Tyr						p.D455Y	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			13	1517	+			455					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.1363G>T	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542187	0.45280	.	.	ENSG00000119698	ENST00000304338	T	0.33654	1.4	5.86	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.345391	0.36519	N	0.002558	T	0.36771	0.0979	L	0.44542	1.39	0.80722	D	1	P	0.35894	0.526	B	0.40101	0.319	T	0.19418	-1.0306	10	0.51188	T	0.08	-5.6695	14.6069	0.68486	0.0695:0.0:0.9305:0.0	.	455	Q6NUP7	PP4R4_HUMAN	Y	455	ENSP00000305924:D455Y	ENSP00000305924:D455Y	D	+	1	0	PPP4R4	93781695	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.076000	0.57591	1.484000	0.48361	0.650000	0.86243	GAT		0.313	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		24	66	1	0	3.6e-14	6.85e-14	24	66				
SERPINA4	5267	broad.mit.edu	37	14	95033445	95033445	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95033445G>A	ENST00000557004.1	+	3	1209	c.788G>A	c.(787-789)tGc>tAc	p.C263Y	SERPINA4_ENST00000298841.5_Missense_Mutation_p.C263Y|SERPINA4_ENST00000555095.1_Missense_Mutation_p.C263Y|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	263					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TACTTGCCCTGCTCGGTGCTA	0.493																																						uc001ydk.2		NA																	0				ovary(3)|skin(1)	4						c.(787-789)TGC>TAC		serine (or cysteine) proteinase inhibitor, clade							113.0	98.0	103.0					14																	95033445		2203	4300	6503	SO:0001583	missense	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95033445G>A	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.788G>A	14.37:g.95033445G>A	ENSP00000450838:p.Cys263Tyr					SERPINA4_uc010avd.2_Missense_Mutation_p.C300Y|SERPINA4_uc001ydl.2_Missense_Mutation_p.C263Y	p.C263Y	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	3	854	+			263					Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	ENST00000557004.1	37	c.788G>A	CCDS9927.1	.	.	.	.	.	.	.	.	.	.	G	11.70	1.717518	0.30413	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.84800	-1.9;-1.9;-1.9	4.56	2.67	0.31697	Serpin domain (3);	0.000000	0.64402	D	0.000010	D	0.90424	0.7002	M	0.81614	2.55	0.80722	D	1	D;D	0.69078	0.99;0.997	P;D	0.67382	0.872;0.951	D	0.89127	0.3507	10	0.72032	D	0.01	.	8.9723	0.35915	0.0796:0.0:0.7738:0.1465	.	263;263	B2R815;P29622	.;KAIN_HUMAN	Y	263	ENSP00000450838:C263Y;ENSP00000451172:C263Y;ENSP00000298841:C263Y	ENSP00000298841:C263Y	C	+	2	0	SERPINA4	94103198	0.907000	0.30839	0.219000	0.23793	0.212000	0.24457	1.874000	0.39568	0.433000	0.26313	0.561000	0.74099	TGC		0.493	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		15	44	0	0	0	0	15	44				
SERPINA5	5104	broad.mit.edu	37	14	95058512	95058512	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95058512G>T	ENST00000554866.1	+	5	1271	c.1157G>T	c.(1156-1158)aGg>aTg	p.R386M	RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Missense_Mutation_p.R386M|SERPINA5_ENST00000329597.7_Missense_Mutation_p.R386M|SERPINA5_ENST00000553780.1_Missense_Mutation_p.R386M			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	386					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GTGTTCAACAGGCCCTTTCTG	0.557																																						uc001ydm.2		NA																	0				ovary(2)	2						c.(1156-1158)AGG>ATG		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						227.0	242.0	237.0					14																	95058512		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058512G>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1157G>T	14.37:g.95058512G>T	ENSP00000451126:p.Arg386Met					SERPINA3_uc001ydo.3_Intron	p.R386M	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1367	+			386					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.1157G>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449808	0.43531	.	.	ENSG00000188488	ENST00000553780;ENST00000554866;ENST00000329597;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	5.49	1.65	0.23941	Serpin domain (3);Protease inhibitor I4, serpin, conserved site (1);	0.266289	0.29565	N	0.011800	D	0.93828	0.8026	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.92054	0.5651	10	0.87932	D	0	.	8.3292	0.32175	0.3157:0.0:0.6843:0.0	.	386	P05154	IPSP_HUMAN	M	386;386;386;238;310;386	ENSP00000450837:R386M;ENSP00000451126:R386M;ENSP00000333203:R386M;ENSP00000451610:R386M	ENSP00000333203:R386M	R	+	2	0	SERPINA5	94128265	1.000000	0.71417	0.977000	0.42913	0.193000	0.23685	2.441000	0.44864	0.100000	0.17581	-0.150000	0.13652	AGG		0.557	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		135	323	1	0	8.32e-65	1.78e-64	135	323				
GSC	145258	broad.mit.edu	37	14	95234860	95234861	+	Nonsense_Mutation	DNP	CC	CC	AA	rs199891655		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95234860_95234861CC>AA	ENST00000238558.3	-	3	950_951	c.741_742GG>TT	c.(739-744)gaGGaa>gaTTaa	p.247_248EE>D*		NM_173849.2	NP_776248.1	P56915	GSC_HUMAN	goosecoid homeobox	247					dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|gastrulation (GO:0007369)|middle ear morphogenesis (GO:0042474)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell fate specification (GO:0014036)|signal transduction involved in regulation of gene expression (GO:0023019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)			skin(1)	1		all_cancers(154;0.0896)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)		CTTTTACCTTCCTCTTCCCTCT	0.559																																					Pancreas(105;2165 2186 4892 18008)	uc001ydu.2		NA																	0					0						c.(739-744)GAGGAA>GATTAA		goosecoid																																				SO:0001587	stop_gained	145258				gastrulation|middle ear morphogenesis		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:95234860_95234861CC>AA		CCDS9930.1	14q32.13	2011-06-20	2007-07-11			ENSG00000133937		"""Homeoboxes / PRD class"""	4612	protein-coding gene	gene with protein product		138890				7916327	Standard	NM_173849		Approved		uc001ydu.3	P56915		ENST00000238558.3:c.741_742delinsAA	14.37:g.95234860_95234861delinsAA	ENSP00000238558:p.E247_E248delinsD*						p.247_248EE>D*	NM_173849	NP_776248	P56915	GSC_HUMAN		COAD - Colon adenocarcinoma(157;0.202)|Epithelial(152;0.239)	3	888_889	-		all_cancers(154;0.0896)|all_epithelial(191;0.219)	247_248					Q86YR1	Nonsense_Mutation	DNP	ENST00000238558.3	37	c.741_742GG>TT	CCDS9930.1																																																																																				0.559	GSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410746.1			40	104	0	0	0	0	40	104				
DICER1	23405	broad.mit.edu	37	14	95582111	95582111	+	Missense_Mutation	SNP	G	G	T	rs199995391		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr14:95582111G>T	ENST00000526495.1	-	13	2091	c.1800C>A	c.(1798-1800)gaC>gaA	p.D600E	DICER1_ENST00000343455.3_Missense_Mutation_p.D600E|DICER1_ENST00000527414.1_Missense_Mutation_p.D600E|DICER1_ENST00000393063.1_Missense_Mutation_p.D600E|DICER1_ENST00000541352.1_Missense_Mutation_p.D600E			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	600	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CAGGATCAATGTCAGTCTCAC	0.433			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2		NA	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			0				skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(1798-1800)GAC>GAA		dicer1							215.0	161.0	179.0					14																	95582111		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95582111G>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1800C>A	14.37:g.95582111G>T	ENSP00000437256:p.Asp600Glu					DICER1_uc001ydv.2_Missense_Mutation_p.D590E|DICER1_uc001ydx.2_Missense_Mutation_p.D600E	p.D600E	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	12	1982	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	600			Helicase C-terminal.		A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.1800C>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	0.399	-0.919514	0.02396	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.86	4.95	-1.03	0.10102	Helicase, C-terminal (1);	0.100151	0.64402	D	0.000002	T	0.09555	0.0235	N	0.00197	-1.87	0.20563	N	0.999886	B	0.02656	0.0	B	0.01281	0.0	T	0.34625	-0.9821	10	0.06099	T	0.92	-12.4052	1.2559	0.01991	0.1911:0.105:0.385:0.3189	.	600	Q9UPY3	DICER_HUMAN	E	600	ENSP00000343745:D600E;ENSP00000437256:D600E;ENSP00000376783:D600E;ENSP00000435681:D600E;ENSP00000444719:D600E	ENSP00000343745:D600E	D	-	3	2	DICER1	94651864	0.006000	0.16342	0.053000	0.19242	0.647000	0.38526	0.068000	0.14531	0.017000	0.15025	0.655000	0.94253	GAC		0.433	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			24	44	1	0	2.4e-15	4.64e-15	24	44				
NDN	4692	broad.mit.edu	37	15	23931753	23931753	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:23931753G>T	ENST00000331837.4	-	1	697	c.612C>A	c.(610-612)ggC>ggA	p.G204G		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	204	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				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)		TCTCTCTGGCGCCGCGGCCCT	0.657									Prader-Willi syndrome																													uc001ywk.2		NA																	0					0						c.(610-612)GGC>GGA		necdin							24.0	25.0	24.0					15																	23931753		2201	4291	6492	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.chr15:23931753G>T	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.612C>A	15.37:g.23931753G>T							p.G204G	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	698	-		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)	204			MAGE.		B2R6Z5	Silent	SNP	ENST00000331837.4	37	c.612C>A	CCDS10014.1																																																																																				0.657	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487		10	25	1	0	2.18e-05	3.43e-05	10	25				
CHRFAM7A	89832	broad.mit.edu	37	15	30665184	30665184	+	Missense_Mutation	SNP	C	C	A	rs144150663		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:30665184C>A	ENST00000299847.2	-	6	778	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.V18L|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000397827.3_Missense_Mutation_p.V18L	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	109						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		GGCTTACCCACTAGGTCCCAT	0.502																																						uc001zdt.1		NA																	0				skin(1)	1						c.(325-327)GTG>TTG		CHRNA7-FAM7A fusion isoform 1							154.0	145.0	148.0					15																	30665184		2177	4277	6454	SO:0001583	missense	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30665184C>A	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.325G>T	15.37:g.30665184C>A	ENSP00000299847:p.Val109Leu					DKFZP434L187_uc001zds.2_RNA|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.V18L|CHRFAM7A_uc010azn.2_Missense_Mutation_p.V18L|CHRFAM7A_uc001zdv.2_RNA	p.V109L	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	6	891	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	109					A8KAB9	Missense_Mutation	SNP	ENST00000299847.2	37	c.325G>T	CCDS32184.1	.	.	.	.	.	.	.	.	.	.	.	0.010	-1.761654	0.00651	.	.	ENSG00000166664	ENST00000299847;ENST00000397827;ENST00000401522	T;T;T	0.76186	-1.0;-1.0;-1.0	2.07	0.0415	0.14213	Neurotransmitter-gated ion-channel ligand-binding (3);	0.247186	0.40302	N	0.001127	T	0.41719	0.1171	N	0.04746	-0.17	0.42256	D	0.991999	B	0.02656	0.0	B	0.01281	0.0	T	0.38866	-0.9641	10	0.02654	T	1	.	5.6432	0.17575	0.0:0.6611:0.0:0.3389	.	109	Q494W8	CRFM7_HUMAN	L	109;18;18	ENSP00000299847:V109L;ENSP00000380927:V18L;ENSP00000385389:V18L	ENSP00000299847:V109L	V	-	1	0	CHRFAM7A	28452476	1.000000	0.71417	0.977000	0.42913	0.396000	0.30629	4.283000	0.58977	0.013000	0.14918	-0.507000	0.04495	GTG		0.502	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911		41	84	1	0	1e-27	2.09e-27	41	84				
RYR3	6263	broad.mit.edu	37	15	34040373	34040373	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:34040373G>A	ENST00000389232.4	+	54	8118	c.8048G>A	c.(8047-8049)gGc>gAc	p.G2683D	RYR3_ENST00000415757.3_Missense_Mutation_p.G2683D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2683	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGGCTGTGGGCTGGACTGTG	0.522																																						uc001zhi.2		NA																	0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8047-8049)GGC>GAC		ryanodine receptor 3							85.0	91.0	89.0					15																	34040373		1982	4166	6148	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040373G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8048G>A	15.37:g.34040373G>A	ENSP00000373884:p.Gly2683Asp					RYR3_uc010bar.2_Missense_Mutation_p.G2683D	p.G2683D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	54	8118	+		all_lung(180;7.18e-09)	2683			3.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8048G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547440	0.86022	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.94280	-3.39;-3.39	5.18	5.18	0.71444	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.96926	0.8996	M	0.90309	3.105	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.986	D	0.96988	0.9720	10	0.66056	D	0.02	.	12.227	0.54465	0.0772:0.0:0.9228:0.0	.	2683;2683	Q15413-2;Q15413	.;RYR3_HUMAN	D	2683	ENSP00000373884:G2683D;ENSP00000399610:G2683D	ENSP00000354735:G2683D	G	+	2	0	RYR3	31827665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.587000	0.74071	2.679000	0.91253	0.655000	0.94253	GGC		0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			22	28	0	0	0	0	22	28				
PLA2G4F	255189	broad.mit.edu	37	15	42442599	42442599	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:42442599T>G	ENST00000382396.4	-	9	943	c.857A>C	c.(856-858)gAg>gCg	p.E286A	PLA2G4F_ENST00000397272.3_Missense_Mutation_p.E286A			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	286					arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		ACACTGTTCCTCCTGGCCTAG	0.627																																						uc001zoz.2		NA																	0				ovary(4)	4						c.(856-858)GAG>GCG		phospholipase A2, group IVF							24.0	25.0	24.0					15																	42442599		2203	4299	6502	SO:0001583	missense	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42442599T>G		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.857A>C	15.37:g.42442599T>G	ENSP00000371833:p.Glu286Ala					PLA2G4F_uc001zoy.2_5'Flank|PLA2G4F_uc010bcr.2_Missense_Mutation_p.E37A|PLA2G4F_uc001zpa.2_Missense_Mutation_p.E37A|PLA2G4F_uc010bcs.2_Missense_Mutation_p.E73A	p.E286A	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	9	920	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	286					Q6ZMC8	Missense_Mutation	SNP	ENST00000382396.4	37	c.857A>C	CCDS32204.1	.	.	.	.	.	.	.	.	.	.	T	9.314	1.056372	0.19907	.	.	ENSG00000168907	ENST00000290497;ENST00000397272;ENST00000382396;ENST00000357924;ENST00000443825	T;T	0.01516	4.81;4.86	5.03	3.89	0.44902	Lysophospholipase, catalytic domain (1);	0.285168	0.24472	N	0.038237	T	0.01940	0.0061	L	0.40543	1.245	0.18873	N	0.999988	P;P	0.39060	0.657;0.518	B;B	0.35182	0.197;0.197	T	0.47433	-0.9118	10	0.46703	T	0.11	-13.1327	9.6302	0.39774	0.1565:0.0:0.0:0.8435	.	73;286	A2RRC4;Q68DD2	.;PA24F_HUMAN	A	282;286;286;286;286	ENSP00000380442:E286A;ENSP00000371833:E286A	ENSP00000290497:E282A	E	-	2	0	PLA2G4F	40229891	0.965000	0.33210	0.015000	0.15790	0.074000	0.17049	2.624000	0.46444	0.863000	0.35553	0.533000	0.62120	GAG		0.627	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		9	14	0	0	0	0	9	14				
SPG11	80208	broad.mit.edu	37	15	44888469	44888469	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:44888469A>G	ENST00000261866.7	-	25	4262	c.4246T>C	c.(4246-4248)Tcc>Ccc	p.S1416P	SPG11_ENST00000427534.2_Missense_Mutation_p.S1416P|SPG11_ENST00000535302.2_Missense_Mutation_p.S1416P|SPG11_ENST00000558319.1_Missense_Mutation_p.S1416P	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1416					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)		TCCATTTTGGAGGTGGGCACT	0.463																																						uc001ztx.2		NA																	0				ovary(4)|skin(1)	5						c.(4246-4248)TCC>CCC		spatacsin isoform 1							109.0	109.0	109.0					15																	44888469		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44888469A>G		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.4246T>C	15.37:g.44888469A>G	ENSP00000261866:p.Ser1416Pro					SPG11_uc010ueh.1_Missense_Mutation_p.S1416P|SPG11_uc010uei.1_Missense_Mutation_p.S1416P|SPG11_uc001zty.1_Missense_Mutation_p.S145P	p.S1416P	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)	25	4277	-		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)	1416			Cytoplasmic (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.4246T>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	A	8.840	0.942011	0.18281	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.81078	-1.45;-1.45;-1.45	5.45	2.94	0.34122	.	0.518724	0.18483	N	0.139864	T	0.81494	0.4834	M	0.62723	1.935	0.09310	N	0.999999	P;D;P	0.56287	0.925;0.975;0.875	P;P;B	0.53450	0.466;0.726;0.446	T	0.71784	-0.4488	10	0.66056	D	0.02	.	5.9565	0.19275	0.5151:0.3272:0.0:0.1577	.	1416;1416;1416	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	P	1416	ENSP00000261866:S1416P;ENSP00000445278:S1416P;ENSP00000396110:S1416P	ENSP00000261866:S1416P	S	-	1	0	SPG11	42675761	0.001000	0.12720	0.001000	0.08648	0.084000	0.17831	1.275000	0.33144	0.865000	0.35603	0.533000	0.62120	TCC		0.463	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			3	93	0	0	0	0	3	93				
SLC12A1	6557	broad.mit.edu	37	15	48577336	48577336	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:48577336C>A	ENST00000558405.1	+	20	2533	c.2519C>A	c.(2518-2520)gCa>gAa	p.A840E	SLC12A1_ENST00000396577.3_Missense_Mutation_p.A840E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A840E			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	840					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GAGAGACTAGCATTGGAAGCG	0.373																																						uc001zwn.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2518-2520)GCA>GAA		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						126.0	132.0	130.0					15																	48577336		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48577336C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2519C>A	15.37:g.48577336C>A	ENSP00000453409:p.Ala840Glu					SLC12A1_uc010uew.1_Missense_Mutation_p.A646E|SLC12A1_uc001zwq.3_Missense_Mutation_p.A611E|SLC12A1_uc001zwr.3_Missense_Mutation_p.A567E	p.A840E	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	21	2735	+		all_lung(180;0.00219)	840			Cytoplasmic (Potential).		A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2519C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	13.99	2.403114	0.42613	.	.	ENSG00000074803	ENST00000380993;ENST00000396577	D;D	0.84800	-1.9;-1.9	5.37	5.37	0.77165	.	0.177095	0.50627	D	0.000110	D	0.84611	0.5510	L	0.53249	1.67	0.52099	D	0.99994	B;B	0.26400	0.148;0.002	B;B	0.32533	0.147;0.002	T	0.80286	-0.1446	10	0.30854	T	0.27	.	19.4659	0.94939	0.0:1.0:0.0:0.0	.	840;840	E9PDW4;Q13621	.;S12A1_HUMAN	E	840	ENSP00000370381:A840E;ENSP00000379822:A840E	ENSP00000370381:A840E	A	+	2	0	SLC12A1	46364628	0.997000	0.39634	0.941000	0.38009	0.498000	0.33706	3.847000	0.55895	2.671000	0.90904	0.655000	0.94253	GCA		0.373	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			28	43	1	0	1.4e-14	2.68e-14	28	43				
HDC	3067	broad.mit.edu	37	15	50534984	50534984	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:50534984C>A	ENST00000267845.3	-	12	1864	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	HDC_ENST00000543581.1_Missense_Mutation_p.G455W|RN7SL494P_ENST00000461517.2_RNA	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		ATGAGGTTCCCAACCCGAGGG	0.567																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2		NA																	0				large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(1462-1464)GGG>TGG		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						44.0	47.0	46.0					15																	50534984		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50534984C>A		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.1462G>T	15.37:g.50534984C>A	ENSP00000267845:p.Gly488Trp					HDC_uc001zxy.2_Missense_Mutation_p.G231W|HDC_uc010uff.1_Missense_Mutation_p.G455W	p.G488W	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	12	1568	-		all_lung(180;0.0138)	488						Missense_Mutation	SNP	ENST00000267845.3	37	c.1462G>T	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	C	7.675	0.687830	0.14973	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.09630	3.07;2.96	5.72	-0.873	0.10635	.	0.757763	0.12347	N	0.476961	T	0.05410	0.0143	N	0.14661	0.345	0.09310	N	1	P;P	0.47106	0.89;0.89	B;B	0.39971	0.315;0.315	T	0.32851	-0.9891	10	0.72032	D	0.01	-0.5739	4.83	0.13435	0.0:0.3354:0.2737:0.3909	.	455;488	B7ZM01;P19113	.;DCHS_HUMAN	W	488;455	ENSP00000267845:G488W;ENSP00000440252:G455W	ENSP00000267845:G488W	G	-	1	0	HDC	48322276	0.002000	0.14202	0.023000	0.16930	0.156000	0.22039	0.303000	0.19210	-0.099000	0.12263	-0.251000	0.11542	GGG		0.567	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			16	30	1	0	1.57e-10	2.84e-10	16	30				
ITGA11	22801	broad.mit.edu	37	15	68650827	68650827	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:68650827T>C	ENST00000315757.7	-	6	655	c.569A>G	c.(568-570)aAa>aGa	p.K190R	ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000423218.2_Missense_Mutation_p.K190R	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	190	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GTAAAACTTTTTCAGGATGTT	0.542																																						uc002ari.2		NA																	0				kidney(2)|pancreas(1)	3						c.(568-570)AAA>AGA		integrin, alpha 11 precursor	Tirofiban(DB00775)						81.0	82.0	82.0					15																	68650827		2168	4288	6456	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68650827T>C	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.569A>G	15.37:g.68650827T>C	ENSP00000327290:p.Lys190Arg					ITGA11_uc010bib.2_Missense_Mutation_p.K190R	p.K190R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			6	656	-			190			VWFA.|Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.569A>G	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	T	9.277	1.047173	0.19827	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000537153	D;D	0.83335	-1.71;-1.71	4.92	3.77	0.43336	von Willebrand factor, type A (3);	0.164448	0.53938	D	0.000053	T	0.65943	0.2740	N	0.11756	0.17	0.34866	D	0.74315	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.61436	-0.7063	10	0.12103	T	0.63	.	11.4697	0.50261	0.0:0.0:0.1504:0.8496	.	190;190	A8K8T0;Q9UKX5	.;ITA11_HUMAN	R	190	ENSP00000327290:K190R;ENSP00000403392:K190R	ENSP00000327290:K190R	K	-	2	0	ITGA11	66437881	1.000000	0.71417	0.996000	0.52242	0.953000	0.61014	3.463000	0.53050	0.790000	0.33803	0.533000	0.62120	AAA		0.542	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211		6	13	0	0	0	0	6	13				
TLE3	7090	broad.mit.edu	37	15	70351092	70351092	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:70351092G>A	ENST00000558939.1	-	11	2205	c.828C>T	c.(826-828)gcC>gcT	p.A276A	TLE3_ENST00000558201.1_Silent_p.A282A|TLE3_ENST00000451782.2_Silent_p.A276A|TLE3_ENST00000317509.8_Silent_p.A276A|TLE3_ENST00000442299.2_Silent_p.A276A|TLE3_ENST00000559048.1_Silent_p.A281A|TLE3_ENST00000557907.1_Silent_p.A276A|TLE3_ENST00000560939.1_Silent_p.A281A|TLE3_ENST00000557997.1_Silent_p.A276A|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000539550.1_Silent_p.A220A|TLE3_ENST00000560589.1_Silent_p.A220A|TLE3_ENST00000558379.1_Silent_p.A276A|TLE3_ENST00000440567.3_Silent_p.A269A|TLE3_ENST00000559929.1_Silent_p.A286A	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	276	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A276A(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGGCTACGGGCCTTGTCCA	0.582																																						uc002asm.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	lung(2)	2						c.(826-828)GCC>GCT		transducin-like enhancer protein 3 isoform a							29.0	32.0	31.0					15																	70351092		1928	4132	6060	SO:0001819	synonymous_variant	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding	g.chr15:70351092G>A	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.828C>T	15.37:g.70351092G>A						TLE3_uc002ask.2_Silent_p.A220A|TLE3_uc002asl.2_Silent_p.A281A|TLE3_uc010ukd.1_Silent_p.A269A|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Silent_p.A276A|TLE3_uc002asn.2_Silent_p.A276A|TLE3_uc002asp.2_Silent_p.A276A|TLE3_uc002aso.2_Silent_p.A276A	p.A276A	NM_005078	NP_005069	Q04726	TLE3_HUMAN			11	1947	-			276			Pro/Ser-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Silent	SNP	ENST00000558939.1	37	c.828C>T	CCDS45293.1																																																																																				0.582	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		5	2	0	0	0	0	5	2				
UBE2Q2	92912	broad.mit.edu	37	15	76171514	76171514	+	Silent	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:76171514T>G	ENST00000267938.4	+	8	1192	c.810T>G	c.(808-810)ctT>ctG	p.L270L	UBE2Q2_ENST00000561851.1_Silent_p.L254L|UBE2Q2_ENST00000338677.4_Silent_p.L270L|UBE2Q2_ENST00000569423.1_Silent_p.L235L	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	270					protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						ATATTTTGCTTAACTTCTCTT	0.343																																						uc002bbg.2		NA																	0				ovary(2)	2						c.(808-810)CTT>CTG		ubiquitin-conjugating enzyme E2Q 2 isoform 1							58.0	60.0	59.0					15																	76171514		2196	4293	6489	SO:0001819	synonymous_variant	92912				protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity	g.chr15:76171514T>G	BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.810T>G	15.37:g.76171514T>G						UBE2Q2_uc002bbh.2_Silent_p.L235L|UBE2Q2_uc010umn.1_Silent_p.L254L|UBE2Q2_uc002bbi.2_Silent_p.L151L	p.L270L	NM_173469	NP_775740	Q8WVN8	UB2Q2_HUMAN			8	1196	+			270					B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	Silent	SNP	ENST00000267938.4	37	c.810T>G	CCDS10286.1																																																																																				0.343	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286475.1	NM_173469		12	20	0	0	0	0	12	20				
ACAN	176	broad.mit.edu	37	15	89401765	89401765	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:89401765C>A	ENST00000561243.1	+	11	5949	c.5949C>A	c.(5947-5949)gaC>gaA	p.D1983E	ACAN_ENST00000559004.1_Missense_Mutation_p.D1983E|ACAN_ENST00000352105.7_Missense_Mutation_p.D1983E|ACAN_ENST00000439576.2_Missense_Mutation_p.D1983E			P16112	PGCA_HUMAN	aggrecan	1993	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|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)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATTTCTGGACCTAAGTGGGC	0.542																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(5947-5949)GAC>GAA		aggrecan isoform 2 precursor							46.0	48.0	48.0					15																	89401765		1861	4111	5972	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89401765C>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5949C>A	15.37:g.89401765C>A	ENSP00000453342:p.Asp1983Glu					ACAN_uc010upp.1_Missense_Mutation_p.D1983E|ACAN_uc002bna.2_RNA	p.D1983E	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6323	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		1983					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.5949C>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	C	6.856	0.527289	0.13066	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02258	4.58;4.37	4.67	3.73	0.42828	.	.	.	.	.	T	0.07007	0.0178	M	0.64997	1.995	0.19775	N	0.999959	P;D	0.67145	0.741;0.996	P;D	0.79108	0.514;0.992	T	0.13791	-1.0496	9	0.05833	T	0.94	-27.0801	8.9838	0.35980	0.0:0.7505:0.1616:0.0878	.	1983;1983	E7ENV9;E7EX88	.;.	E	1983;1983;1869	ENSP00000387356:D1983E;ENSP00000341615:D1983E	ENSP00000268134:D1869E	D	+	3	2	ACAN	87202769	0.044000	0.20184	0.631000	0.29282	0.154000	0.21943	0.414000	0.21164	2.420000	0.82092	0.591000	0.81541	GAC		0.542	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		29	37	1	0	1.16e-09	2.05e-09	29	37				
MESP2	145873	broad.mit.edu	37	15	90320436	90320436	+	Missense_Mutation	SNP	C	C	G	rs372667571		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:90320436C>G	ENST00000341735.3	+	1	848	c.848C>G	c.(847-849)tCg>tGg	p.S283W	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	283					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TGGACGCAGTCGTCCCCAGAG	0.647																																						uc002bon.2		NA																	0					0						c.(847-849)TCG>TGG		mesoderm posterior 2 homolog							14.0	17.0	16.0					15																	90320436		1891	4091	5982	SO:0001583	missense	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320436C>G		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.848C>G	15.37:g.90320436C>G	ENSP00000342392:p.Ser283Trp					MESP2_uc010uqa.1_Intron	p.S283W	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	848	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		283					Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	c.848C>G	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	C	6.523	0.464716	0.12402	.	.	ENSG00000188095	ENST00000341735	T	0.79141	-1.24	4.35	3.42	0.39159	.	.	.	.	.	T	0.58090	0.2098	N	0.08118	0	0.19945	N	0.999947	P	0.52692	0.955	B	0.41917	0.37	T	0.51748	-0.8666	9	0.87932	D	0	0.1647	7.1755	0.25742	0.0:0.8759:0.0:0.1241	.	283	Q0VG99	MESP2_HUMAN	W	283	ENSP00000342392:S283W	ENSP00000342392:S283W	S	+	2	0	MESP2	88121440	0.000000	0.05858	0.097000	0.21041	0.051000	0.14879	0.201000	0.17276	1.024000	0.39682	0.462000	0.41574	TCG		0.647	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		10	7	0	0	0	0	10	7				
PCSK6	5046	broad.mit.edu	37	15	101872152	101872152	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:101872152C>T	ENST00000348070.1	-	15	1939	c.1940G>A	c.(1939-1941)cGg>cAg	p.R647Q	PCSK6_ENST00000358417.3_Missense_Mutation_p.R647Q|PCSK6_ENST00000561177.1_5'UTR|RP11-299G20.3_ENST00000558696.1_RNA	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	648					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCCAGCATCCGCGAGCGGGA	0.567																																						uc002bwy.2		NA																	0				pancreas(2)	2						c.(1942-1944)CGG>CAG		paired basic amino acid cleaving system 4							52.0	55.0	54.0					15																	101872152		2021	4184	6205	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101872152C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1940G>A	15.37:g.101872152C>T	ENSP00000305056:p.Arg647Gln					PCSK6_uc010bpd.2_Missense_Mutation_p.R444Q|PCSK6_uc010bpe.2_Missense_Mutation_p.R648Q|PCSK6_uc002bxa.2_Missense_Mutation_p.R648Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R648Q	p.R648Q	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		15	2257	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		648					Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1943G>A		.	.	.	.	.	.	.	.	.	.	C	24.9	4.581038	0.86748	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;T	0.64438	-0.09;-0.1	5.82	4.9	0.64082	.	0.117371	0.53938	D	0.000046	T	0.73361	0.3577	L	0.60455	1.87	0.80722	D	1	D;P;D;D;P	0.76494	0.994;0.824;0.999;0.988;0.955	P;B;D;P;B	0.77557	0.575;0.111;0.99;0.687;0.312	T	0.71076	-0.4697	10	0.29301	T	0.29	-29.7727	12.8013	0.57588	0.0:0.9207:0.0:0.0793	.	648;479;648;648;647	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	Q	647;647;478	ENSP00000305056:R647Q;ENSP00000351193:R647Q	ENSP00000305056:R647Q	R	-	2	0	PCSK6	99689675	0.988000	0.35896	0.831000	0.32960	0.884000	0.51177	4.147000	0.58078	1.456000	0.47831	0.650000	0.86243	CGG		0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		12	19	0	0	0	0	12	19				
OR4F6	390648	broad.mit.edu	37	15	102346444	102346444	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:102346444A>T	ENST00000328882.4	+	1	543	c.522A>T	c.(520-522)ttA>ttT	p.L174F		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D175fs*15(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CTAATGAATTAGATAGTTTCT	0.373																																						uc010utr.1		NA																	1	Deletion - Frameshift(1)		urinary_tract(1)	ovary(1)	1						c.(520-522)TTA>TTT		olfactory receptor, family 4, subfamily F,							210.0	204.0	206.0					15																	102346444		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346444A>T	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.522A>T	15.37:g.102346444A>T	ENSP00000327525:p.Leu174Phe						p.L174F	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	522	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		174			Extracellular (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.522A>T	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	9.842	1.191187	0.21954	.	.	ENSG00000184140	ENST00000328882	T	0.00130	8.69	4.78	-2.31	0.06765	GPCR, rhodopsin-like superfamily (1);	0.165435	0.28365	N	0.015614	T	0.00210	0.0006	M	0.72576	2.205	0.09310	N	1	B	0.30563	0.285	B	0.40477	0.33	T	0.36286	-0.9754	10	0.72032	D	0.01	.	6.9553	0.24568	0.3096:0.0:0.5406:0.1498	.	174	Q8NGB9	OR4F6_HUMAN	F	174	ENSP00000327525:L174F	ENSP00000327525:L174F	L	+	3	2	OR4F6	100163967	0.000000	0.05858	0.115000	0.21578	0.193000	0.23685	-2.873000	0.00719	-0.494000	0.06669	-0.326000	0.08463	TTA		0.373	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			48	80	0	0	0	0	48	80				
TMEM8A	58986	broad.mit.edu	37	16	422106	422106	+	Missense_Mutation	SNP	C	C	G	rs150493488		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:422106C>G	ENST00000431232.2	-	13	2357	c.2197G>C	c.(2197-2199)Gca>Cca	p.A733P	MRPL28_ENST00000389675.2_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.A540P|MRPL28_ENST00000199706.8_5'Flank|MRPL28_ENST00000429738.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	733					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGCAAGGCTGCGCTCCCGGCC	0.607																																						uc002cgu.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(2197-2199)GCA>CCA		transmembrane protein 8 (five membrane-spanning							68.0	72.0	71.0					16																	422106		2201	4300	6501	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:422106C>G	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.2197G>C	16.37:g.422106C>G	ENSP00000401338:p.Ala733Pro					MRPL28_uc010bqu.1_5'Flank|MRPL28_uc002cgr.1_5'Flank|MRPL28_uc002cgs.1_5'Flank|MRPL28_uc002cgt.1_5'Flank|TMEM8A_uc002cgv.3_Missense_Mutation_p.A540P	p.A733P	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			13	2326	-			733			Helical; (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.2197G>C	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411954	0.62511	.	.	ENSG00000129925	ENST00000431232;ENST00000250930;ENST00000382942	T;T	0.31510	1.9;1.49	4.3	3.34	0.38264	.	0.360328	0.22501	N	0.059226	T	0.33498	0.0865	L	0.51422	1.61	0.31139	N	0.706853	D	0.56746	0.977	P	0.49561	0.615	T	0.37407	-0.9707	10	0.54805	T	0.06	-3.0709	8.8409	0.35142	0.0:0.7659:0.1505:0.0836	.	733	Q9HCN3	TMM8A_HUMAN	P	733;540;221	ENSP00000401338:A733P;ENSP00000250930:A540P	ENSP00000250930:A540P	A	-	1	0	TMEM8A	362107	0.998000	0.40836	0.016000	0.15963	0.565000	0.35776	3.526000	0.53509	1.039000	0.40074	0.455000	0.32223	GCA		0.607	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		55	62	0	0	0	0	55	62				
PKD1	5310	broad.mit.edu	37	16	2159077	2159077	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:2159077C>A	ENST00000262304.4	-	15	6299	c.6091G>T	c.(6091-6093)Gtg>Ttg	p.V2031L	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Missense_Mutation_p.V2031L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2031	PKD 16. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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						CCCGCGGCCACGGGCGTGTAG	0.677																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(6091-6093)GTG>TTG		polycystin 1 isoform 1 precursor							28.0	32.0	31.0					16																	2159077		2185	4282	6467	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.chr16:2159077C>A	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.6091G>T	16.37:g.2159077C>A	ENSP00000262304:p.Val2031Leu					PKD1_uc002cot.1_Missense_Mutation_p.V2031L	p.V2031L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			15	6300	-			2031			PKD 16.|Extracellular (Potential).		Q15140|Q15141	Missense_Mutation	SNP	ENST00000262304.4	37	c.6091G>T	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	c	5.054	0.195720	0.09599	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000382481	T;T	0.59083	0.29;0.29	5.49	5.49	0.81192	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (2);	0.180303	0.47455	D	0.000226	T	0.57989	0.2091	L	0.51422	1.61	0.26889	N	0.967378	P;B	0.34955	0.477;0.384	B;B	0.43658	0.331;0.426	T	0.53662	-0.8407	10	0.27785	T	0.31	.	12.7594	0.57354	0.0:0.9248:0.0:0.0752	.	2031;2031	P98161-3;P98161	.;PKD1_HUMAN	L	2031;2031;310	ENSP00000262304:V2031L;ENSP00000399501:V2031L	ENSP00000262304:V2031L	V	-	1	0	PKD1	2099078	0.977000	0.34250	0.939000	0.37840	0.596000	0.36781	2.787000	0.47798	2.597000	0.87782	0.544000	0.68410	GTG		0.677	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			45	48	1	0	2.22e-12	4.09e-12	45	48				
PKD1	5310	broad.mit.edu	37	16	2167056	2167056	+	Splice_Site	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:2167056T>C	ENST00000262304.4	-	7	1594		c.e7-2		RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Splice_Site	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)						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						TCTAGGCTCCTGGGGGCGGGT	0.682																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.e7-1		polycystin 1 isoform 1 precursor							3.0	3.0	3.0					16																	2167056		1085	2296	3381	SO:0001630	splice_region_variant	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.chr16:2167056T>C	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.1386-2A>G	16.37:g.2167056T>C						PKD1_uc002cot.1_Splice_Site_p.R462_splice	p.R462_splice	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			7	1595	-								Q15140|Q15141	Splice_Site	SNP	ENST00000262304.4	37	c.1386_splice	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	.	9.117	1.007994	0.19199	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	.	.	.	4.82	4.82	0.62117	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3999	0.55407	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKD1	2107057	1.000000	0.71417	0.949000	0.38748	0.226000	0.24999	5.941000	0.70195	1.823000	0.53134	0.445000	0.29226	.		0.682	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		Intron	9	15	0	0	0	0	9	15				
ABCA3	21	broad.mit.edu	37	16	2329015	2329015	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:2329015C>T	ENST00000301732.5	-	29	5176	c.4476G>A	c.(4474-4476)ggG>ggA	p.G1492G	ABCA3_ENST00000382381.3_Silent_p.G1434G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1492	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)	CCACGCAGGCCCCGATGTGGC	0.652																																						uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(4474-4476)GGG>GGA		ATP-binding cassette, sub-family A member 3							65.0	67.0	66.0					16																	2329015		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2329015C>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.4476G>A	16.37:g.2329015C>T						ABCA3_uc010bsk.1_Silent_p.G1434G	p.G1492G	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			29	5188	-		Ovarian(90;0.17)	1492			ABC transporter 2.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.4476G>A	CCDS10466.1																																																																																				0.652	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		41	104	0	0	0	0	41	104				
AMDHD2	51005	broad.mit.edu	37	16	2578355	2578355	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:2578355G>C	ENST00000293971.6	+	7	930	c.836G>C	c.(835-837)cGg>cCg	p.R279P	AMDHD2_ENST00000565570.1_Intron|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000413459.3_Missense_Mutation_p.R279P|AMDHD2_ENST00000302956.4_Missense_Mutation_p.R279P	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	279					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCCGCCCTGCGGATCGCCCAC	0.672																																						uc002cqq.2		NA																	0				skin(2)|large_intestine(1)|breast(1)	4						c.(835-837)CGG>CCG		amidohydrolase domain containing 2 isoform 1							34.0	41.0	39.0					16																	2578355		2195	4297	6492	SO:0001583	missense	51005				N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity	g.chr16:2578355G>C	AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.836G>C	16.37:g.2578355G>C	ENSP00000293971:p.Arg279Pro					AMDHD2_uc002cqp.2_Missense_Mutation_p.R279P|AMDHD2_uc010uwc.1_Missense_Mutation_p.R279P|AMDHD2_uc010uwd.1_Missense_Mutation_p.R43P	p.R279P	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN			7	933	+			279					B4DL77|Q8WV54	Missense_Mutation	SNP	ENST00000293971.6	37	c.836G>C		.	.	.	.	.	.	.	.	.	.	G	22.4	4.289562	0.80914	.	.	ENSG00000162066	ENST00000413459;ENST00000302956;ENST00000293971	D;D;D	0.99942	-8.47;-8.47;-8.47	5.51	5.51	0.81932	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.99949	0.9978	H	0.94925	3.6	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.96064	0.9041	10	0.72032	D	0.01	-18.3432	17.9845	0.89152	0.0:0.0:1.0:0.0	.	279;279;279	Q9Y303-3;Q9Y303;Q9Y303-2	.;NAGA_HUMAN;.	P	279	ENSP00000391596:R279P;ENSP00000307481:R279P;ENSP00000293971:R279P	ENSP00000293971:R279P	R	+	2	0	AMDHD2	2518356	1.000000	0.71417	0.993000	0.49108	0.463000	0.32649	7.730000	0.84881	2.582000	0.87167	0.655000	0.94253	CGG		0.672	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000435652.1	NM_015944		15	68	0	0	0	0	15	68				
MEFV	4210	broad.mit.edu	37	16	3306443	3306443	+	Silent	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:3306443T>G	ENST00000219596.1	-	1	184	c.145A>C	c.(145-147)Agg>Cgg	p.R49R	MEFV_ENST00000339854.4_Silent_p.R49R|MEFV_ENST00000536379.1_Silent_p.R49R|MEFV_ENST00000541159.1_Silent_p.R49R	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	49	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TTCACCGGCCTGGCTCTCTGG	0.602																																						uc002cun.1		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)|lung(1)	6						c.(145-147)AGG>CGG		Mediterranean fever protein	Colchicine(DB01394)						86.0	84.0	85.0					16																	3306443		2197	4300	6497	SO:0001819	synonymous_variant	4210				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	g.chr16:3306443T>G	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.145A>C	16.37:g.3306443T>G							p.R49R	NM_000243	NP_000234	O15553	MEFV_HUMAN			1	185	-			49			DAPIN.		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Silent	SNP	ENST00000219596.1	37	c.145A>C	CCDS10498.1																																																																																				0.602	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251464.1	NM_000243		68	85	0	0	0	0	68	85				
GRIN2A	2903	broad.mit.edu	37	16	9923416	9923416	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:9923416C>G	ENST00000396573.2	-	10	2180	c.1871G>C	c.(1870-1872)gGg>gCg	p.G624A	GRIN2A_ENST00000404927.2_Missense_Mutation_p.G624A|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G467A|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G624A|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G624A|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G624A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	624					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTGGTGGTCCCTTTAGGATT	0.493																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1870-1872)GGG>GCG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						121.0	103.0	109.0					16																	9923416		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9923416C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1871G>C	16.37:g.9923416C>G	ENSP00000379818:p.Gly624Ala					GRIN2A_uc010uym.1_Missense_Mutation_p.G624A|GRIN2A_uc010uyn.1_Missense_Mutation_p.G467A|GRIN2A_uc002czr.3_Missense_Mutation_p.G624A	p.G624A	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			9	2419	-			624			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1871G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764621	0.89932	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.27	5.27	0.74061	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	L	0.33753	1.03	0.80722	D	1	D;D;D	0.76494	0.992;0.994;0.999	D;D;D	0.91635	0.943;0.966;0.999	T	0.55566	-0.8121	9	.	.	.	.	17.9016	0.88906	0.0:1.0:0.0:0.0	.	467;624;624	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	A	624;624;467;624;624	ENSP00000379818:G624A;ENSP00000385872:G624A;ENSP00000441572:G467A;ENSP00000332549:G624A;ENSP00000379820:G624A	.	G	-	2	0	GRIN2A	9830917	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.681000	0.84073	2.465000	0.83290	0.655000	0.94253	GGG		0.493	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			18	85	0	0	0	0	18	85				
CIITA	4261	broad.mit.edu	37	16	10971201	10971201	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:10971201C>T	ENST00000324288.8	+	1	147	c.14C>T	c.(13-15)gCt>gTt	p.A5V	RP11-876N24.2_ENST00000572017.1_RNA|RP11-876N24.2_ENST00000573071.1_RNA|CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.A5V	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	5					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGTTGCCTGGCTCCACGCCCT	0.602			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3		NA		Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(13-15)GCT>GTT		class II transactivator							63.0	57.0	59.0					16																	10971201		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:10971201C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.14C>T	16.37:g.10971201C>T	ENSP00000316328:p.Ala5Val					CIITA_uc002daj.3_Missense_Mutation_p.A5V|CIITA_uc002dak.3_Missense_Mutation_p.A5V|CIITA_uc002dag.2_Missense_Mutation_p.A5V|CIITA_uc002dah.2_Missense_Mutation_p.A5V|CIITA_uc010bup.1_Missense_Mutation_p.A5V	p.A5V	NM_000246	NP_000237	P33076	C2TA_HUMAN			1	147	+			5					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.14C>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	C	0.147	-1.095624	0.01858	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.72051	-0.62;1.7	2.94	1.97	0.26223	.	.	.	.	.	T	0.40619	0.1124	N	0.14661	0.345	0.25198	N	0.990074	P;B;B;B;B;B	0.36144	0.539;0.009;0.004;0.001;0.06;0.012	B;B;B;B;B;B	0.27796	0.083;0.005;0.001;0.001;0.019;0.006	T	0.32771	-0.9894	9	0.06099	T	0.92	.	5.1954	0.15233	0.0:0.8306:0.0:0.1694	.	5;5;5;5;5;5	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	V	5	ENSP00000316328:A5V;ENSP00000371257:A5V	ENSP00000316328:A5V	A	+	2	0	CIITA	10878702	0.668000	0.27493	0.916000	0.36221	0.411000	0.31082	0.418000	0.21230	0.782000	0.33613	0.313000	0.20887	GCT		0.602	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		6	13	0	0	0	0	6	13				
LITAF	9516	broad.mit.edu	37	16	11647435	11647435	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:11647435C>A	ENST00000571688.1	-	3	561	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	LITAF_ENST00000381810.3_Missense_Mutation_p.A111S|LITAF_ENST00000571459.1_Intron|LITAF_ENST00000571976.1_Missense_Mutation_p.A111S|LITAF_ENST00000572255.1_Missense_Mutation_p.A18S|LITAF_ENST00000576036.1_Missense_Mutation_p.A111S|LITAF_ENST00000413364.2_Missense_Mutation_p.A111S|LITAF_ENST00000570904.1_Missense_Mutation_p.A111S|LITAF_ENST00000339430.5_Missense_Mutation_p.A111S|LITAF_ENST00000574763.1_Missense_Mutation_p.A111S	NM_001136472.1	NP_001129944.1	Q99732	LITAF_HUMAN	lipopolysaccharide-induced TNF factor	111					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						AGAGCACCGGCGTTATAGGAC	0.592																																						uc002daz.2		NA																	0				liver(1)	1						c.(331-333)GCC>TCC		lipopolysaccharide-induced TNF-alpha factor							76.0	56.0	63.0					16																	11647435		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.chr16:11647435C>A	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.331G>T	16.37:g.11647435C>A	ENSP00000459533:p.Ala111Ser					LITAF_uc002dba.2_Missense_Mutation_p.A111S|LITAF_uc002dbb.2_Missense_Mutation_p.A111S|LITAF_uc002dbc.2_Missense_Mutation_p.A111S|LITAF_uc002dbd.2_Missense_Mutation_p.A111S	p.A111S	NM_004862	NP_004853	Q99732	LITAF_HUMAN			3	564	-			111					D3DUG1|G5E9K0|Q05DW0|Q9C0L6	Missense_Mutation	SNP	ENST00000571688.1	37	c.331G>T	CCDS32386.1	.	.	.	.	.	.	.	.	.	.	C	4.979	0.181803	0.09495	.	.	ENSG00000189067	ENST00000339430;ENST00000413364;ENST00000381810	D;D;D	0.85702	-2.02;-2.02;-2.02	5.39	5.39	0.77823	LPS-induced tumor necrosis factor alpha factor (2);	0.067254	0.64402	D	0.000012	T	0.68421	0.2999	N	0.12853	0.265	0.29602	N	0.847573	B;B	0.34103	0.437;0.137	B;B	0.32928	0.155;0.047	T	0.62011	-0.6944	10	0.06365	T	0.9	-28.755	11.7205	0.51678	0.1762:0.8237:0.0:0.0	.	111;111	G5E9K0;Q99732	.;LITAF_HUMAN	S	111	ENSP00000340118:A111S;ENSP00000397958:A111S;ENSP00000371231:A111S	ENSP00000340118:A111S	A	-	1	0	LITAF	11554936	0.574000	0.26684	0.400000	0.26346	0.080000	0.17528	0.909000	0.28558	2.525000	0.85131	0.655000	0.94253	GCC		0.592	LITAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436794.2	NM_004862		13	39	1	0	9.31e-06	1.49e-05	13	39				
GP2	2813	broad.mit.edu	37	16	20327337	20327337	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:20327337C>A	ENST00000381362.4	-	10	1527	c.1451G>T	c.(1450-1452)aGt>aTt	p.S484I	GP2_ENST00000573897.1_5'Flank|GP2_ENST00000341642.5_Missense_Mutation_p.S334I|GP2_ENST00000302555.5_Missense_Mutation_p.S481I|GP2_ENST00000381360.5_Missense_Mutation_p.S337I	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	484	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGGTACTTCACTGCGGACTTG	0.483																																						uc002dgv.2		NA																	0				ovary(3)|skin(1)	4						c.(1450-1452)AGT>ATT		zymogen granule membrane glycoprotein 2 isoform							118.0	110.0	113.0					16																	20327337		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20327337C>A	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.1451G>T	16.37:g.20327337C>A	ENSP00000370767:p.Ser484Ile					GP2_uc002dgw.2_Missense_Mutation_p.S481I|GP2_uc002dgx.2_Missense_Mutation_p.S337I|GP2_uc002dgy.2_Missense_Mutation_p.S334I	p.S484I	NM_001007240	NP_001007241	P55259	GP2_HUMAN			10	1534	-			484			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.1451G>T	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413764	0.83449	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.91351	-2.83;-2.83;-1.59;-1.6	5.25	3.23	0.37069	Zona pellucida sperm-binding protein (1);	.	.	.	.	D	0.93083	0.7798	M	0.78049	2.395	0.09310	N	0.999999	P;D;P;P	0.55605	0.912;0.972;0.923;0.857	P;P;P;P	0.59643	0.813;0.861;0.657;0.704	D	0.84701	0.0728	9	0.52906	T	0.07	-0.7687	6.8629	0.24077	0.0:0.7264:0.178:0.0957	.	334;462;481;484	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	I	481;484;337;334;462	ENSP00000304044:S481I;ENSP00000370767:S484I;ENSP00000370765:S337I;ENSP00000343861:S334I	ENSP00000304044:S481I	S	-	2	0	GP2	20234838	0.001000	0.12720	0.010000	0.14722	0.885000	0.51271	0.174000	0.16743	0.542000	0.28846	0.655000	0.94253	AGT		0.483	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		24	85	1	0	2.8e-10	5.02e-10	24	85				
PDILT	204474	broad.mit.edu	37	16	20370759	20370759	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:20370759G>C	ENST00000302451.4	-	12	1885	c.1637C>G	c.(1636-1638)tCc>tGc	p.S546C		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	546					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTCCAGCTTGGATACGTACTT	0.512																																						uc002dhc.1		NA																	0				large_intestine(1)	1						c.(1636-1638)TCC>TGC		protein disulfide isomerase-like, testis							225.0	202.0	210.0					16																	20370759		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20370759G>C		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1637C>G	16.37:g.20370759G>C	ENSP00000305465:p.Ser546Cys						p.S546C	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			12	1860	-			546					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.1637C>G	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	5.459	0.269692	0.10349	.	.	ENSG00000169340	ENST00000302451	T	0.03386	3.95	0.399	0.399	0.16325	.	5.906920	0.00628	N	0.000477	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	P	0.41214	0.742	B	0.26416	0.069	T	0.36311	-0.9753	9	0.62326	D	0.03	.	.	.	.	.	546	Q8N807	PDILT_HUMAN	C	546	ENSP00000305465:S546C	ENSP00000305465:S546C	S	-	2	0	PDILT	20278260	0.003000	0.15002	0.133000	0.22050	0.057000	0.15508	0.612000	0.24283	0.439000	0.26476	0.446000	0.29264	TCC		0.512	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		50	245	0	0	0	0	50	245				
ACSM5	54988	broad.mit.edu	37	16	20442556	20442556	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:20442556G>A	ENST00000331849.4	+	10	1368	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	407					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TGGATGATGAGGGCAACGTCC	0.557																																						uc002dhe.2		NA																	0				ovary(2)	2						c.(1219-1221)GAG>GAA		acyl-CoA synthetase medium-chain family member 5							150.0	129.0	136.0					16																	20442556		2203	4300	6503	SO:0001819	synonymous_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442556G>A		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1221G>A	16.37:g.20442556G>A							p.E407E	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			10	1368	+			407					Q96AV1|Q96CX8|Q9NWV3	Silent	SNP	ENST00000331849.4	37	c.1221G>A	CCDS10585.1																																																																																				0.557	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		37	129	0	0	0	0	37	129				
DNAH3	55567	broad.mit.edu	37	16	20948070	20948070	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:20948070C>T	ENST00000261383.3	-	60	11759	c.11760G>A	c.(11758-11760)gtG>gtA	p.V3920V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3920					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)		GCACTTTACCCACAAGCATGC	0.572																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(11758-11760)GTG>GTA		dynein, axonemal, heavy chain 3							72.0	63.0	66.0					16																	20948070		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20948070C>T	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.11760G>A	16.37:g.20948070C>T						DNAH3_uc010vbd.1_Silent_p.V1355V	p.V3920V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	60	11760	-			3920					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.11760G>A	CCDS10594.1																																																																																				0.572	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	17	0	0	0	0	7	17				
VWA3A	146177	broad.mit.edu	37	16	22126703	22126703	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:22126703A>G	ENST00000389398.5	+	9	821	c.725A>G	c.(724-726)cAg>cGg	p.Q242R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	242						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAGACGCTGCAGCCTGATGGA	0.463																																						uc010vbq.1		NA																	0				skin(1)	1						c.(724-726)CAG>CGG		von Willebrand factor A domain containing 3A							34.0	37.0	36.0					16																	22126703		1918	4127	6045	SO:0001583	missense	146177					extracellular region		g.chr16:22126703A>G	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.725A>G	16.37:g.22126703A>G	ENSP00000374049:p.Gln242Arg					VWA3A_uc010bxc.2_Missense_Mutation_p.Q229R	p.Q242R	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	9	821	+			242					A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.725A>G	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.861726	0.32884	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.09073	3.02	5.68	5.68	0.88126	.	0.337899	0.25581	N	0.029681	T	0.16085	0.0387	M	0.67953	2.075	0.80722	D	1	P	0.41673	0.759	P	0.46585	0.521	T	0.00514	-1.1695	10	0.49607	T	0.09	.	11.452	0.50158	0.8496:0.1504:0.0:0.0	.	242	A6NCI4	VWA3A_HUMAN	R	142;242	ENSP00000374049:Q242R	ENSP00000308827:Q142R	Q	+	2	0	VWA3A	22034204	0.987000	0.35691	0.222000	0.23844	0.773000	0.43773	2.946000	0.49050	2.161000	0.67846	0.523000	0.50628	CAG		0.463	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			3	17	0	0	0	0	3	17				
CHP2	63928	broad.mit.edu	37	16	23768878	23768878	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:23768878A>G	ENST00000300113.2	+	7	988	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	189					cellular response to calcium ion (GO:0071277)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CGTTGAGCAAAAAATGAGCAT	0.527																																						uc002dmb.1		NA																	0				central_nervous_system(1)	1						c.(565-567)AAA>GAA		hepatocellular carcinoma antigen gene 520							198.0	178.0	185.0					16																	23768878		2197	4300	6497	SO:0001583	missense	63928						calcium ion binding	g.chr16:23768878A>G		CCDS10617.1	16p12.2	2013-01-11	2013-01-11		ENSG00000166869	ENSG00000166869		"""EF-hand domain containing"""	24927	protein-coding gene	gene with protein product						12226101	Standard	NM_022097		Approved		uc002dmb.1	O43745	OTTHUMG00000131611	ENST00000300113.2:c.565A>G	16.37:g.23768878A>G	ENSP00000300113:p.Lys189Glu						p.K189E	NM_022097	NP_071380	O43745	CHP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0144)	7	988	+			189					A8K2I8	Missense_Mutation	SNP	ENST00000300113.2	37	c.565A>G	CCDS10617.1	.	.	.	.	.	.	.	.	.	.	A	23.0	4.366049	0.82463	.	.	ENSG00000166869	ENST00000300113	T	0.28895	1.59	4.57	3.4	0.38934	.	0.066850	0.56097	D	0.000034	T	0.57021	0.2025	M	0.90542	3.125	0.51482	D	0.999928	D	0.76494	0.999	D	0.68192	0.956	T	0.63427	-0.6640	10	0.56958	D	0.05	-20.8475	9.6135	0.39676	0.8251:0.1749:0.0:0.0	.	189	O43745	CHP2_HUMAN	E	189	ENSP00000300113:K189E	ENSP00000300113:K189E	K	+	1	0	AC130454.2	23676379	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.070000	0.71220	2.050000	0.60909	0.533000	0.62120	AAA		0.527	CHP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254498.1	NM_022097		57	177	0	0	0	0	57	177				
SPN	6693	broad.mit.edu	37	16	29675891	29675891	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:29675891A>C	ENST00000360121.3	+	2	934	c.842A>C	c.(841-843)cAg>cCg	p.Q281P	SPN_ENST00000395389.2_Missense_Mutation_p.Q281P	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0					anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CGCCGGCGGCAGAAGCGGCGG	0.697																																						uc002dtm.2		NA																	0				central_nervous_system(2)	2						c.(841-843)CAG>CCG		sialophorin precursor							25.0	21.0	22.0					16																	29675891		2195	4298	6493	SO:0001583	missense	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675891A>C	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.842A>C	16.37:g.29675891A>C	ENSP00000353238:p.Gln281Pro					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.Q281P|SPN_uc010bzd.2_RNA	p.Q281P	NM_001030288	NP_001025459	P16150	LEUK_HUMAN			2	978	+			281			Cytoplasmic (Potential).		A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.842A>C	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	23.2	4.388075	0.82902	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.37915	1.18;1.17;1.18	5.35	0.643	0.17770	.	0.318315	0.22857	N	0.054782	T	0.48150	0.1484	L	0.58101	1.795	0.09310	N	1	D	0.76494	0.999	D	0.69142	0.962	T	0.30736	-0.9968	10	0.72032	D	0.01	-1.0116	7.393	0.26921	0.6371:0.0:0.3629:0.0	.	281	P16150	LEUK_HUMAN	P	281	ENSP00000378787:Q281P;ENSP00000412907:Q281P;ENSP00000353238:Q281P	ENSP00000353238:Q281P	Q	+	2	0	SPN	29583392	1.000000	0.71417	0.451000	0.26982	0.552000	0.35366	1.137000	0.31479	0.114000	0.18032	0.383000	0.25322	CAG		0.697	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			8	20	0	0	0	0	8	20				
TBX6	6911	broad.mit.edu	37	16	30100304	30100304	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:30100304C>T	ENST00000395224.2	-	4	640	c.581G>A	c.(580-582)cGt>cAt	p.R194H	TBX6_ENST00000279386.2_Missense_Mutation_p.R194H|TBX6_ENST00000553607.1_Missense_Mutation_p.R194H	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	194					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GAGCTTGACACGATGGAAAGA	0.647																																						uc010veh.1		NA																	0				ovary(1)|pancreas(1)	2						c.(580-582)CGT>CAT		T-box 6							69.0	71.0	71.0					16																	30100304		2197	4300	6497	SO:0001583	missense	6911				anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:30100304C>T	AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.581G>A	16.37:g.30100304C>T	ENSP00000378650:p.Arg194His					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.R194H	p.R194H	NM_004608	NP_004599	O95947	TBX6_HUMAN			4	641	-			194			T-box.		Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	c.581G>A	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274831	0.59649	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.89050	-2.46;-2.46;-2.46	5.59	5.59	0.84812	p53-like transcription factor, DNA-binding (1);	0.218582	0.39274	N	0.001405	T	0.80412	0.4618	N	0.25890	0.77	0.43172	D	0.994978	P;B	0.49307	0.922;0.439	B;B	0.36666	0.23;0.098	D	0.83688	0.0175	10	0.87932	D	0	.	11.8086	0.52169	0.0:0.9186:0.0:0.0814	.	194;194	O95947;Q9HA44	TBX6_HUMAN;.	H	194	ENSP00000378650:R194H;ENSP00000279386:R194H;ENSP00000461223:R194H	ENSP00000279386:R194H	R	-	2	0	TBX6	30007805	0.643000	0.27269	1.000000	0.80357	0.975000	0.68041	1.592000	0.36676	2.637000	0.89404	0.462000	0.41574	CGT		0.647	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2	NM_004608, NM_080758		44	122	0	0	0	0	44	122				
ZNF629	23361	broad.mit.edu	37	16	30794552	30794552	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:30794552C>A	ENST00000262525.4	-	3	1304	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	366					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CAGGTGAGTCCGCTGGTGCTT	0.662																																						uc002dzs.1		NA																	0					0						c.(1096-1098)CGG>CTG		zinc finger protein 629							33.0	34.0	34.0					16																	30794552		2197	4300	6497	SO:0001583	missense	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794552C>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1097G>T	16.37:g.30794552C>A	ENSP00000262525:p.Arg366Leu						p.R366L	NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1305	-			366			C2H2-type 8.		Q15938	Missense_Mutation	SNP	ENST00000262525.4	37	c.1097G>T	CCDS45463.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569832	0.65765	.	.	ENSG00000102870	ENST00000262525	T	0.25085	1.82	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000729	T	0.42359	0.1199	L	0.35593	1.075	0.38963	D	0.958584	D	0.67145	0.996	D	0.72625	0.978	T	0.35425	-0.9789	10	0.66056	D	0.02	-41.13	18.352	0.90342	0.0:1.0:0.0:0.0	.	366	Q9UEG4	ZN629_HUMAN	L	366	ENSP00000262525:R366L	ENSP00000262525:R366L	R	-	2	0	ZNF629	30702053	0.000000	0.05858	0.991000	0.47740	0.994000	0.84299	0.578000	0.23773	2.629000	0.89072	0.561000	0.74099	CGG		0.662	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		19	25	1	0	2.58e-16	5.08e-16	19	25				
SALL1	6299	broad.mit.edu	37	16	51175026	51175026	+	Silent	SNP	C	C	G	rs201951803		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:51175026C>G	ENST00000251020.4	-	2	1140	c.1107G>C	c.(1105-1107)gcG>gcC	p.A369A	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.A272A|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	369					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)			ATGATGAGACCGCTGGGTTGC	0.512																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1		NA																	0				skin(5)|ovary(3)	8						c.(1105-1107)GCG>GCC		sal-like 1 isoform a							70.0	72.0	72.0					16																	51175026		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175026C>G	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.1107G>C	16.37:g.51175026C>G						SALL1_uc010vgr.1_Silent_p.A272A|SALL1_uc010cbv.2_Intron	p.A369A	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1138	-		all_cancers(37;0.0322)	369					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1107G>C	CCDS10747.1																																																																																				0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		14	37	0	0	0	0	14	37				
IRX6	79190	broad.mit.edu	37	16	55360356	55360356	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:55360356T>A	ENST00000290552.7	+	2	1486	c.154T>A	c.(154-156)Tac>Aac	p.Y52N	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	52					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CTGCGCACCCTACGATAGTCG	0.652																																						uc002ehy.2		NA																	0				central_nervous_system(5)|ovary(1)	6						c.(154-156)TAC>AAC		iroquois homeobox protein 6							37.0	33.0	34.0					16																	55360356		2198	4300	6498	SO:0001583	missense	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55360356T>A	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.154T>A	16.37:g.55360356T>A	ENSP00000290552:p.Tyr52Asn					IRX6_uc002ehx.2_Missense_Mutation_p.Y52N|IRX6_uc010ccb.1_RNA	p.Y52N	NM_024335	NP_077311	P78412	IRX6_HUMAN			2	687	+			52					B2RN06|Q7Z2K0	Missense_Mutation	SNP	ENST00000290552.7	37	c.154T>A	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.656066	0.88056	.	.	ENSG00000159387	ENST00000290552	D	0.83419	-1.72	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92312	0.5858	10	0.87932	D	0	-10.3251	15.2002	0.73130	0.0:0.0:0.0:1.0	.	52	P78412	IRX6_HUMAN	N	52	ENSP00000290552:Y52N	ENSP00000290552:Y52N	Y	+	1	0	IRX6	53917857	1.000000	0.71417	0.869000	0.34112	0.768000	0.43524	7.090000	0.76916	2.180000	0.69256	0.379000	0.24179	TAC		0.652	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		15	15	0	0	0	0	15	15				
CDH11	1009	broad.mit.edu	37	16	65016141	65016141	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:65016141C>T	ENST00000268603.4	-	8	1678	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	CDH11_ENST00000394156.3_Missense_Mutation_p.D355N|CDH11_ENST00000566827.1_Missense_Mutation_p.D229N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	355	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AACTTCGGGTCGATGTGCACG	0.468			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				lung(10)|ovary(3)|skin(1)	14						c.(1063-1065)GAC>AAC		cadherin 11, type 2 preproprotein							135.0	107.0	116.0					16																	65016141		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65016141C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1063G>A	16.37:g.65016141C>T	ENSP00000268603:p.Asp355Asn	TSP Lung(24;0.17)				CDH11_uc010cdn.2_Intron|CDH11_uc002eoj.2_Missense_Mutation_p.D355N|CDH11_uc010vin.1_Missense_Mutation_p.D229N|CDH11_uc002eok.1_RNA	p.D355N	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	8	1497	-		Ovarian(137;0.0973)	355			Cadherin 3.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1063G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	34	5.389496	0.95988	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.19532	2.14;2.14	5.61	5.61	0.85477	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.75264	2.295	0.80722	D	1	D;D	0.71674	0.988;0.998	P;D	0.65573	0.558;0.936	T	0.44205	-0.9343	10	0.72032	D	0.01	.	18.9874	0.92777	0.0:1.0:0.0:0.0	.	355;355	P55287-2;P55287	.;CAD11_HUMAN	N	355;355;338	ENSP00000268603:D355N;ENSP00000377711:D355N	ENSP00000268603:D355N	D	-	1	0	CDH11	63573642	1.000000	0.71417	0.995000	0.50966	0.954000	0.61252	7.370000	0.79589	2.813000	0.96785	0.655000	0.94253	GAC		0.468	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		19	22	0	0	0	0	19	22				
TMED6	146456	broad.mit.edu	37	16	69377541	69377541	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:69377541G>A	ENST00000288025.3	-	4	547	c.492C>T	c.(490-492)gaC>gaT	p.D164D	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_144676.3	NP_653277.2	Q8WW62	TMED6_HUMAN	transmembrane emp24 protein transport domain containing 6	164					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	9						TTTGTGTGCCGTCCTATGAGA	0.428																																						uc002exc.1		NA																	0				ovary(1)	1						c.(490-492)GAC>GAT		transmembrane emp24 protein transport domain							98.0	96.0	97.0					16																	69377541		2198	4300	6498	SO:0001819	synonymous_variant	146456				transport	endoplasmic reticulum membrane|integral to membrane		g.chr16:69377541G>A	BC020827	CCDS10878.1	16q22.1	2008-02-05			ENSG00000157315	ENSG00000157315			28331	protein-coding gene	gene with protein product						12477932	Standard	NM_144676		Approved	MGC23911	uc002exc.2	Q8WW62	OTTHUMG00000137571	ENST00000288025.3:c.492C>T	16.37:g.69377541G>A							p.D164D	NM_144676	NP_653277	Q8WW62	TMED6_HUMAN			4	525	-			164			Lumenal (Potential).		Q6UXN5	Silent	SNP	ENST00000288025.3	37	c.492C>T	CCDS10878.1																																																																																				0.428	TMED6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268951.1	NM_144676		30	29	0	0	0	0	30	29				
PLCG2	5336	broad.mit.edu	37	16	81979842	81979842	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:81979842G>C	ENST00000359376.3	+	31	3758	c.3544G>C	c.(3544-3546)Gtt>Ctt	p.V1182L		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1182					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCCCTCCTGGTTTTCTGTGA	0.527																																						uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(3544-3546)GTT>CTT		phospholipase C, gamma 2							142.0	142.0	142.0					16																	81979842		1980	4163	6143	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81979842G>C		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3544G>C	16.37:g.81979842G>C	ENSP00000352336:p.Val1182Leu						p.V1182L	NM_002661	NP_002652	P16885	PLCG2_HUMAN			31	3696	+			1182					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.3544G>C	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.451122	0.63290	.	.	ENSG00000197943	ENST00000359376	T	0.13089	2.62	5.61	5.61	0.85477	C2 calcium/lipid-binding domain, CaLB (1);	0.116529	0.56097	D	0.000022	T	0.15652	0.0377	L	0.48362	1.52	0.54753	D	0.999985	B	0.33857	0.429	B	0.33960	0.173	T	0.01360	-1.1375	10	0.66056	D	0.02	.	14.8473	0.70270	0.0707:0.0:0.9293:0.0	.	1182	P16885	PLCG2_HUMAN	L	1182	ENSP00000352336:V1182L	ENSP00000352336:V1182L	V	+	1	0	PLCG2	80537343	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.521000	0.60532	2.652000	0.90054	0.655000	0.94253	GTT		0.527	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			24	44	0	0	0	0	24	44				
MYO1C	4641	broad.mit.edu	37	17	1386207	1386207	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:1386207T>G	ENST00000575158.1	-	4	565	c.389A>C	c.(388-390)gAg>gCg	p.E130A	MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Missense_Mutation_p.E165A|MYO1C_ENST00000545534.2_Missense_Mutation_p.E141A|MYO1C_ENST00000438665.2_Missense_Mutation_p.E146A|MYO1C_ENST00000361007.2_Missense_Mutation_p.E130A			Q12965	MYO1E_HUMAN	myosin IC	137	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACCTCCGCGCTCGGGGGCTGG	0.692																																						uc002fsp.2		NA																	0					0						c.(493-495)GAG>GCG		myosin IC isoform a							22.0	23.0	23.0					17																	1386207		2202	4294	6496	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1386207T>G	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.389A>C	17.37:g.1386207T>G	ENSP00000459174:p.Glu130Ala					MYO1C_uc002fsn.2_Missense_Mutation_p.E146A|MYO1C_uc002fso.2_Missense_Mutation_p.E130A|MYO1C_uc010vqj.1_Missense_Mutation_p.E130A|MYO1C_uc010vqk.1_Missense_Mutation_p.E141A	p.E165A	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	714	-			165	E -> Q (in Ref. 1; CAA67131).		Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.494A>C	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957519	0.34565	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.45	5.45	0.79879	Myosin head, motor domain (2);	0.247463	0.46442	D	0.000290	T	0.76877	0.4049	N	0.15975	0.35	0.45342	D	0.998333	B;B;B	0.14012	0.005;0.009;0.004	B;B;B	0.18871	0.023;0.014;0.013	T	0.71414	-0.4600	10	0.16896	T	0.51	.	14.681	0.69017	0.0:0.0:0.0:1.0	.	141;165;146	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	A	165;146;146;130;141;130	ENSP00000352834:E165A;ENSP00000412197:E146A;ENSP00000354283:E130A;ENSP00000437685:E141A	ENSP00000352834:E165A	E	-	2	0	MYO1C	1332957	1.000000	0.71417	0.825000	0.32803	0.302000	0.27658	4.107000	0.57811	2.060000	0.61445	0.379000	0.24179	GAG		0.692	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			13	30	0	0	0	0	13	30				
SPNS3	201305	broad.mit.edu	37	17	4350211	4350211	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:4350211G>A	ENST00000355530.2	+	5	855	c.575G>A	c.(574-576)gGg>gAg	p.G192E	SPNS3_ENST00000333476.2_Missense_Mutation_p.G65E|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	192					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						TACGTGCTGGGGTCGGCTGTG	0.652																																						uc002fxt.2		NA																	0				large_intestine(1)	1						c.(574-576)GGG>GAG		spinster homolog 3							86.0	77.0	80.0					17																	4350211		2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4350211G>A		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.575G>A	17.37:g.4350211G>A	ENSP00000347721:p.Gly192Glu					SPNS3_uc002fxu.2_Missense_Mutation_p.G65E	p.G192E	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			5	619	+			192			Helical; (Potential).		Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.575G>A	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562515	0.45694	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.63255	-0.03;-0.03	4.26	3.28	0.37604	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.056432	0.64402	D	0.000001	T	0.80481	0.4631	M	0.90759	3.145	0.58432	D	0.999999	D;D	0.71674	0.996;0.998	D;D	0.80764	0.976;0.994	T	0.83172	-0.0093	10	0.87932	D	0	-21.5091	10.7837	0.46393	0.0:0.1933:0.8067:0.0	.	65;192	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	E	192;65	ENSP00000347721:G192E;ENSP00000333207:G65E	ENSP00000333207:G65E	G	+	2	0	SPNS3	4296960	1.000000	0.71417	0.988000	0.46212	0.032000	0.12392	3.613000	0.54152	1.092000	0.41356	-0.467000	0.05162	GGG		0.652	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		21	37	0	0	0	0	21	37				
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	rs587780075		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:7577138C>G	ENST00000269305.4	-	8	989	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000420246.2_Missense_Mutation_p.R267P|TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R267P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAAGCTGTTCCGTCCCAGTAG	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		59	Substitution - Missense(33)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)	lung(14)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(6)|urinary_tract(5)|ovary(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|stomach(2)|oesophagus(2)|liver(2)|eye(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM921040	TP53	M		c.(799-801)CGG>CCG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577138C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.800G>C	17.37:g.7577138C>G	ENSP00000269305:p.Arg267Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P	p.R267P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	994	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	267		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.800G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857957	0.71834	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.13	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.058834	0.64402	D	0.000001	D	0.99837	0.9926	M	0.90759	3.145	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.998	D	0.97815	1.0253	10	0.87932	D	0	-8.7531	8.8334	0.35098	0.0:0.7658:0.1508:0.0834	.	267;267;267;267	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	267;267;267;267;267;256;135	ENSP00000352610:R267P;ENSP00000269305:R267P;ENSP00000398846:R267P;ENSP00000391127:R267P;ENSP00000391478:R267P;ENSP00000425104:R135P	ENSP00000269305:R267P	R	-	2	0	TP53	7517863	1.000000	0.71417	0.489000	0.27452	0.858000	0.48976	7.587000	0.82613	0.725000	0.32318	0.462000	0.41574	CGG		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	17	0	0	0	0	23	17				
DNAH2	146754	broad.mit.edu	37	17	7689567	7689567	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:7689567C>T	ENST00000572933.1	+	40	7715	c.6255C>T	c.(6253-6255)tgC>tgT	p.C2085C	DNAH2_ENST00000389173.2_Silent_p.C2085C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2085	AAA 2. {ECO:0000250}.				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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCGTGGGCTGCACGGGCAGCG	0.577																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(6253-6255)TGC>TGT		dynein heavy chain domain 3							67.0	63.0	65.0					17																	7689567		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7689567C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6255C>T	17.37:g.7689567C>T							p.C2085C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			39	6269	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2085			AAA 2 (By similarity).|ATP (Potential).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.6255C>T	CCDS32551.1																																																																																				0.577	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		19	54	0	0	0	0	19	54				
ALOX12B	242	broad.mit.edu	37	17	7977057	7977057	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:7977057C>G	ENST00000319144.4	-	13	1933	c.1673G>C	c.(1672-1674)cGa>cCa	p.R558P	ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	558	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AGGCACGGTTCGCAAGCACCT	0.627										Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gjy.1		NA																	0					0						c.(1672-1674)CGA>CCA		arachidonate 12-lipoxygenase, 12R type							73.0	60.0	64.0					17																	7977057		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7977057C>G	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1673G>C	17.37:g.7977057C>G	ENSP00000315167:p.Arg558Pro	Multiple Myeloma(8;0.094)	OREG0024152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645		p.R558P	NM_001139	NP_001130	O75342	LX12B_HUMAN			13	1934	-			558			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1673G>C	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976789	0.34848	.	.	ENSG00000179477	ENST00000319144	T	0.76839	-1.05	4.99	4.02	0.46733	Lipoxygenase, C-terminal (3);	0.607751	0.16215	N	0.224294	T	0.71230	0.3315	L	0.55743	1.74	0.09310	N	1	P	0.40602	0.723	B	0.41646	0.362	T	0.61623	-0.7025	10	0.36615	T	0.2	-2.7344	5.5814	0.17252	0.0:0.658:0.1641:0.1778	.	558	O75342	LX12B_HUMAN	P	558	ENSP00000315167:R558P	ENSP00000315167:R558P	R	-	2	0	ALOX12B	7917782	0.000000	0.05858	0.228000	0.23943	0.100000	0.18952	0.065000	0.14466	1.091000	0.41335	0.650000	0.86243	CGA		0.627	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			9	29	0	0	0	0	9	29				
SPDYE4	388333	broad.mit.edu	37	17	8656718	8656718	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:8656718G>A	ENST00000328794.6	-	5	751	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	192										breast(1)|endometrium(2)|kidney(1)	4						ATGGAACAAGGGTCGCTGGGA	0.567																																						uc010cnz.1		NA																	0					0						c.(574-576)CCC>CTC		speedy homolog E4							128.0	108.0	114.0					17																	8656718		692	1591	2283	SO:0001583	missense	388333							g.chr17:8656718G>A	BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"""Speedy homologs"""	35463	protein-coding gene	gene with protein product			"""speedy homolog E4 (Xenopus laevis)"""				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.575C>T	17.37:g.8656718G>A	ENSP00000329522:p.Pro192Leu						p.P192L	NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN			5	752	-			192					B2RUZ6	Missense_Mutation	SNP	ENST00000328794.6	37	c.575C>T	CCDS45609.1	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792245	0.16258	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.53	1.53	0.23141	.	0.262263	0.24454	N	0.038390	T	0.43853	0.1266	M	0.77406	2.37	0.09310	N	1	B	0.25563	0.129	B	0.27380	0.079	T	0.47535	-0.9110	9	0.72032	D	0.01	.	4.5828	0.12267	0.1933:0.0:0.8067:0.0	.	192	A6NLX3	SPDE4_HUMAN	L	192	.	ENSP00000329522:P192L	P	-	2	0	SPDYE4	8597443	0.000000	0.05858	0.003000	0.11579	0.005000	0.04900	-0.481000	0.06552	1.427000	0.47276	0.297000	0.19635	CCC		0.567	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442494.1	NM_001128076		5	14	0	0	0	0	5	14				
MYH8	4626	broad.mit.edu	37	17	10304018	10304018	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10304018G>A	ENST00000403437.2	-	27	3518	c.3424C>T	c.(3424-3426)Ctc>Ttc	p.L1142F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1142					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCCGGGAGAGGTCAGAGCGC	0.582									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3424-3426)CTC>TTC		myosin, heavy chain 8, skeletal muscle,							62.0	70.0	67.0					17																	10304018		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10304018G>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.3424C>T	17.37:g.10304018G>A	ENSP00000384330:p.Leu1142Phe					uc002gml.1_Intron	p.L1142F	NM_002472	NP_002463	P13535	MYH8_HUMAN			27	3519	-			1142			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.3424C>T	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295235	0.60086	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.85171	-1.95	5.49	4.52	0.55395	Myosin tail (1);	0.000000	0.37178	U	0.002203	D	0.92021	0.7472	H	0.95611	3.695	0.49798	D	0.999829	B	0.34290	0.447	P	0.44477	0.451	D	0.93319	0.6691	10	0.87932	D	0	.	14.3484	0.66682	0.0706:0.0:0.9294:0.0	.	1142	P13535	MYH8_HUMAN	F	1142	ENSP00000384330:L1142F	ENSP00000252173:L1142F	L	-	1	0	MYH8	10244743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.609000	0.61148	1.555000	0.49500	0.655000	0.94253	CTC		0.582	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		48	119	0	0	0	0	48	119				
MYH4	4622	broad.mit.edu	37	17	10348361	10348361	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10348361G>A	ENST00000255381.2	-	37	5508	c.5398C>T	c.(5398-5400)Cgt>Tgt	p.R1800C	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1800					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCATCCAGACGGAGCTGCAGA	0.562																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(5398-5400)CGT>TGT		myosin, heavy polypeptide 4, skeletal muscle							142.0	138.0	139.0					17																	10348361		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10348361G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5398C>T	17.37:g.10348361G>A	ENSP00000255381:p.Arg1800Cys					uc002gml.1_Intron	p.R1800C	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			37	5509	-			1800			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.5398C>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.428466	0.62844	.	.	ENSG00000141048	ENST00000255381	D	0.82711	-1.64	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.38272	U	0.001758	D	0.94460	0.8217	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95644	0.8701	10	0.87932	D	0	.	19.744	0.96245	0.0:0.0:1.0:0.0	.	1800	Q9Y623	MYH4_HUMAN	C	1800	ENSP00000255381:R1800C	ENSP00000255381:R1800C	R	-	1	0	MYH4	10289086	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	5.606000	0.67641	2.743000	0.94032	0.591000	0.81541	CGT		0.562	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		60	111	0	0	0	0	60	111				
MYH4	4622	broad.mit.edu	37	17	10354160	10354160	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10354160G>T	ENST00000255381.2	-	29	4028	c.3918C>A	c.(3916-3918)tcC>tcA	p.S1306S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1306					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTTGCCTCGGGATAGCTGAG	0.393																																						uc002gmn.2		NA																	0				ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3916-3918)TCC>TCA		myosin, heavy polypeptide 4, skeletal muscle							167.0	152.0	157.0					17																	10354160		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10354160G>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3918C>A	17.37:g.10354160G>T						uc002gml.1_Intron	p.S1306S	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			29	4029	-			1306			Potential.			Silent	SNP	ENST00000255381.2	37	c.3918C>A	CCDS11154.1																																																																																				0.393	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		31	57	1	0	1.56e-20	3.17e-20	31	57				
MYH2	4620	broad.mit.edu	37	17	10424725	10424725	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10424725C>T	ENST00000245503.5	-	40	6082	c.5698G>A	c.(5698-5700)Gct>Act	p.A1900T	MYH2_ENST00000397183.2_Missense_Mutation_p.A1900T|MYH1_ENST00000226207.5_5'Flank|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.A667T|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1900					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGAATTTAGCTAGATTGGTG	0.473																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5698-5700)GCT>ACT		myosin heavy chain IIa							108.0	109.0	109.0					17																	10424725		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10424725C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5698G>A	17.37:g.10424725C>T	ENSP00000245503:p.Ala1900Thr					uc002gml.1_Intron|MYH1_uc002gmo.2_5'Flank|MYH2_uc002gmp.3_Missense_Mutation_p.A1900T|MYH2_uc010coj.2_Missense_Mutation_p.A667T	p.A1900T	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			40	5826	-			1900			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5698G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.449110	0.43531	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	T;T;T	0.77620	2.34;-1.11;-1.11	5.64	4.56	0.56223	Myosin tail (1);	0.402618	0.17982	U	0.155504	T	0.64594	0.2612	L	0.28400	0.85	0.25094	N	0.990832	B;B	0.02656	0.0;0.0	B;B	0.09377	0.0;0.004	T	0.54957	-0.8215	10	0.44086	T	0.13	.	7.2173	0.25967	0.6287:0.1345:0.0:0.2368	.	667;1900	Q567P6;Q9UKX2	.;MYH2_HUMAN	T	667;1900;1900	ENSP00000433944:A667T;ENSP00000245503:A1900T;ENSP00000380367:A1900T	ENSP00000245503:A1900T	A	-	1	0	MYH2	10365450	0.017000	0.18338	1.000000	0.80357	0.995000	0.86356	0.318000	0.19504	1.159000	0.42565	-0.271000	0.10264	GCT		0.473	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		44	118	0	0	0	0	44	118				
MYH2	4620	broad.mit.edu	37	17	10428788	10428788	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10428788C>T	ENST00000245503.5	-	32	4901	c.4517G>A	c.(4516-4518)cGa>cAa	p.R1506Q	MYH2_ENST00000397183.2_Missense_Mutation_p.R1506Q|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1506					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R1506Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGTTCTCTCGCTTCAGGGT	0.428																																						uc010coi.2		NA																	1	Substitution - Missense(1)	p.R1506*(1)	breast(1)	ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(4516-4518)CGA>CAA		myosin heavy chain IIa							93.0	94.0	94.0					17																	10428788		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10428788C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.4517G>A	17.37:g.10428788C>T	ENSP00000245503:p.Arg1506Gln					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1506Q|MYH2_uc010coj.2_Intron	p.R1506Q	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			32	4645	-			1506			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.4517G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409147	0.96072	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83506	-1.73;-1.73	5.2	5.2	0.72013	Myosin tail (1);	0.000000	0.33382	U	0.004965	D	0.95092	0.8410	H	0.98525	4.255	0.52501	D	0.999955	D	0.89917	1.0	D	0.91635	0.999	D	0.96816	0.9600	10	0.87932	D	0	.	18.9276	0.92552	0.0:1.0:0.0:0.0	.	1506	Q9UKX2	MYH2_HUMAN	Q	1506	ENSP00000245503:R1506Q;ENSP00000380367:R1506Q	ENSP00000245503:R1506Q	R	-	2	0	MYH2	10369513	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.630000	0.83225	2.713000	0.92767	0.591000	0.81541	CGA		0.428	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		27	74	0	0	0	0	27	74				
MYH2	4620	broad.mit.edu	37	17	10433044	10433044	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:10433044G>T	ENST00000245503.5	-	24	3338	c.2954C>A	c.(2953-2955)aCa>aAa	p.T985K	MYH2_ENST00000397183.2_Missense_Mutation_p.T985K|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	985					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCTCTTCTGTGAGGTTTTT	0.478																																						uc010coi.2		NA																	0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(2953-2955)ACA>AAA		myosin heavy chain IIa							186.0	187.0	187.0					17																	10433044		2202	4300	6502	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10433044G>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2954C>A	17.37:g.10433044G>T	ENSP00000245503:p.Thr985Lys					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T985K|MYH2_uc010coj.2_Intron	p.T985K	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			24	3082	-			985			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2954C>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220467	0.58560	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.90844	-2.74;-2.74	5.24	5.24	0.73138	.	0.000000	0.40385	U	0.001108	D	0.90810	0.7114	M	0.72894	2.215	0.80722	D	1	B	0.18610	0.029	B	0.22753	0.041	D	0.87938	0.2715	10	0.66056	D	0.02	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	985	Q9UKX2	MYH2_HUMAN	K	985	ENSP00000245503:T985K;ENSP00000380367:T985K	ENSP00000245503:T985K	T	-	2	0	MYH2	10373769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.105000	0.64591	2.718000	0.92993	0.591000	0.81541	ACA		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		73	152	1	0	4.81e-37	1.02e-36	73	152				
DNAH9	1770	broad.mit.edu	37	17	11522951	11522951	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:11522951G>C	ENST00000262442.4	+	6	1271	c.1203G>C	c.(1201-1203)ttG>ttC	p.L401F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L401F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	401	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGACACTTTGAGCTTCTTCA	0.443																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1201-1203)TTG>TTC		dynein, axonemal, heavy chain 9 isoform 2							147.0	147.0	147.0					17																	11522951		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11522951G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1203G>C	17.37:g.11522951G>C	ENSP00000262442:p.Leu401Phe						p.L401F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	6	1271	+		Breast(5;0.0122)|all_epithelial(5;0.131)	401			Potential.|Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1203G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576998	0.28092	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.57273	0.41;0.41	5.98	2.6	0.31112	Dynein heavy chain, domain-1 (1);	0.183077	0.35936	N	0.002885	T	0.39358	0.1075	L	0.47716	1.5	0.41796	D	0.989899	P	0.37141	0.584	B	0.36766	0.232	T	0.23297	-1.0192	10	0.45353	T	0.12	.	3.6934	0.08354	0.2187:0.1085:0.5502:0.1226	.	401	Q9NYC9	DYH9_HUMAN	F	401	ENSP00000262442:L401F;ENSP00000414874:L401F	ENSP00000262442:L401F	L	+	3	2	DNAH9	11463676	0.982000	0.34865	0.874000	0.34290	0.549000	0.35272	1.277000	0.33167	0.845000	0.35118	0.591000	0.81541	TTG		0.443	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		45	103	0	0	0	0	45	103				
DNAH9	1770	broad.mit.edu	37	17	11648295	11648295	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:11648295T>A	ENST00000262442.4	+	31	6361	c.6293T>A	c.(6292-6294)tTt>tAt	p.F2098Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.F2098Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2098					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGGACCTCTTTCCCGCCCTG	0.562																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(6292-6294)TTT>TAT		dynein, axonemal, heavy chain 9 isoform 2							74.0	76.0	76.0					17																	11648295		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11648295T>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6293T>A	17.37:g.11648295T>A	ENSP00000262442:p.Phe2098Tyr					DNAH9_uc010coo.2_Missense_Mutation_p.F1392Y	p.F2098Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	31	6361	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2098					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.6293T>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751158	0.89753	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.46819	0.86;0.86	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.81475	0.4830	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89279	0.3610	10	0.87932	D	0	.	15.5848	0.76473	0.0:0.0:0.0:1.0	.	2098	Q9NYC9	DYH9_HUMAN	Y	2098;2098;680	ENSP00000262442:F2098Y;ENSP00000414874:F2098Y	ENSP00000262442:F2098Y	F	+	2	0	DNAH9	11589020	1.000000	0.71417	0.998000	0.56505	0.716000	0.41182	7.997000	0.88414	2.075000	0.62263	0.529000	0.55759	TTT		0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		18	49	0	0	0	0	18	49				
MYOCD	93649	broad.mit.edu	37	17	12620739	12620739	+	Splice_Site	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:12620739G>T	ENST00000343344.4	+	4	253		c.e4+1		MYOCD_ENST00000425538.1_Splice_Site			Q8IZQ8	MYCD_HUMAN	myocardin						cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATACTCCAAGGTAAGGCTGCA	0.443																																						uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.e4+1		myocardin isoform 2							55.0	55.0	55.0					17																	12620739		2203	4300	6503	SO:0001630	splice_region_variant	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12620739G>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.253+1G>T	17.37:g.12620739G>T						MYOCD_uc002gno.2_Splice_Site_p.A85_splice|MYOCD_uc002gnp.1_5'Flank	p.A85_splice	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	4	552	+								Q5UBU5|Q8N7Q1	Splice_Site	SNP	ENST00000343344.4	37	c.253_splice	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407313	0.83230	.	.	ENSG00000141052	ENST00000425538;ENST00000343344	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6545	0.91445	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYOCD	12561464	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.346000	0.97056	2.941000	0.99782	0.655000	0.94253	.		0.443	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	Intron	7	23	1	0	0.00198382	0.0028924	7	23				
KCNJ12	3768	broad.mit.edu	37	17	21318738	21318738	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:21318738C>T	ENST00000583088.1	+	3	979	c.84C>T	c.(82-84)gcC>gcT	p.A28A	KCNJ12_ENST00000331718.5_Silent_p.A28A	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	28					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGTCGGGCGCCAACGGCTTCG	0.657										Prostate(3;0.18)																												uc002gyv.1		NA																	0				ovary(3)|skin(1)	4						c.(82-84)GCC>GCT		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)						80.0	69.0	72.0					17																	21318738		2203	4300	6503	SO:0001819	synonymous_variant	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318738C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.84C>T	17.37:g.21318738C>T		Prostate(3;0.18)					p.A28A	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	789	+			28			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	37	c.84C>T	CCDS11219.1																																																																																				0.657	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		5	43	0	0	0	0	5	43				
CCL7	6354	broad.mit.edu	37	17	32597383	32597383	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:32597383C>A	ENST00000378569.2	+	1	144	c.74C>A	c.(73-75)cCa>cAa	p.P25Q	CCL7_ENST00000394627.1_Missense_Mutation_p.P25Q|CCL7_ENST00000200307.4_Missense_Mutation_p.P35Q|CCL7_ENST00000394630.3_Missense_Mutation_p.P25Q	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	25					cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to ethanol (GO:0071361)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|monocyte chemotaxis (GO:0002548)|positive regulation of cell migration (GO:0030335)|positive regulation of natural killer cell chemotaxis (GO:2000503)|regulation of cell shape (GO:0008360)|response to gamma radiation (GO:0010332)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR1 chemokine receptor binding (GO:0031726)|chemokine activity (GO:0008009)|heparin binding (GO:0008201)			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTTGCTCAGCCAGGTAAGGTC	0.552																																						uc002hhz.2		NA																	0				ovary(1)	1						c.(73-75)CCA>CAA		chemokine (C-C motif) ligand 7 precursor							74.0	66.0	69.0					17																	32597383		2203	4300	6503	SO:0001583	missense	6354				cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	g.chr17:32597383C>A	AF043338	CCDS11278.1	17q11.2-q12	2013-02-25	2002-08-22	2002-08-23	ENSG00000108688	ENSG00000108688		"""Chemokine ligands"", ""Endogenous ligands"""	10634	protein-coding gene	gene with protein product	"""monocyte chemoattractant protein 3"", ""monocyte chemotactic protein 3"""	158106	"""small inducible cytokine A7 (monocyte chemotactic protein 3)"""	SCYA6, SCYA7		8461011	Standard	NM_006273		Approved	MCP-3, NC28, FIC, MARC, MCP3	uc002hhz.4	P80098	OTTHUMG00000132889	ENST00000378569.2:c.74C>A	17.37:g.32597383C>A	ENSP00000367832:p.Pro25Gln					CCL7_uc010ctf.2_RNA	p.P25Q	NM_006273	NP_006264	P80098	CCL7_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	1	144	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	25					Q569J6	Missense_Mutation	SNP	ENST00000378569.2	37	c.74C>A	CCDS11278.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490531	0.26686	.	.	ENSG00000108688	ENST00000378569;ENST00000200307;ENST00000394630;ENST00000394627	.	.	.	4.28	3.31	0.37934	Chemokine interleukin-8-like domain (1);	0.000000	0.33670	N	0.004675	T	0.71213	0.3313	.	.	.	0.34788	D	0.735405	D	0.89917	1.0	D	0.77004	0.989	T	0.78698	-0.2103	8	0.87932	D	0	.	8.1101	0.30909	0.0:0.8887:0.0:0.1113	.	25	P80098	CCL7_HUMAN	Q	35;25;35;35	.	ENSP00000200307:P25Q	P	+	2	0	CCL7	29621496	0.944000	0.32072	0.950000	0.38849	0.186000	0.23388	1.131000	0.31406	1.137000	0.42214	0.650000	0.86243	CCA		0.552	CCL7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256386.2	NM_006273		24	44	1	0	9.96e-16	1.94e-15	24	44				
CCL8	6355	broad.mit.edu	37	17	32646545	32646545	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:32646545T>C	ENST00000394620.1	+	1	491	c.25T>C	c.(25-27)Tgc>Cgc	p.C9R		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	9					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				AGCGCTTCTGTGCCTGCTGCT	0.527																																						uc002hib.2		NA																	0					0						c.(25-27)TGC>CGC		small inducible cytokine A8 precursor							74.0	68.0	70.0					17																	32646545		2203	4300	6503	SO:0001583	missense	6355				calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus	extracellular space	chemokine activity|heparin binding|signal transducer activity	g.chr17:32646545T>C	X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.25T>C	17.37:g.32646545T>C	ENSP00000378118:p.Cys9Arg						p.C9R	NM_005623	NP_005614	P80075	CCL8_HUMAN			1	480	+		Ovarian(249;0.0443)|Breast(31;0.151)	9					A0AV77|P78388	Missense_Mutation	SNP	ENST00000394620.1	37	c.25T>C	CCDS11280.1	.	.	.	.	.	.	.	.	.	.	T	14.37	2.514550	0.44763	.	.	ENSG00000108700	ENST00000394620;ENST00000225840	.	.	.	4.75	-0.726	0.11170	.	0.548656	0.15353	N	0.266855	T	0.42517	0.1206	.	.	.	0.18873	N	0.999989	P	0.38370	0.628	P	0.48141	0.568	T	0.40384	-0.9566	8	0.66056	D	0.02	.	5.0846	0.14675	0.4424:0.0:0.1745:0.383	.	9	P80075	CCL8_HUMAN	R	19;9	.	ENSP00000225840:C9R	C	+	1	0	CCL8	29670658	0.012000	0.17670	0.030000	0.17652	0.016000	0.09150	0.129000	0.15830	-0.385000	0.07833	-0.331000	0.08364	TGC		0.527	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256376.2	NM_005623		35	49	0	0	0	0	35	49				
ACACA	31	broad.mit.edu	37	17	35468548	35468548	+	Silent	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:35468548T>G	ENST00000394406.2	-	52	6562	c.6372A>C	c.(6370-6372)gtA>gtC	p.V2124V	ACACA_ENST00000353139.5_Silent_p.V2161V|ACACA_ENST00000361253.5_Silent_p.V250V|ACACA_ENST00000335166.5_Silent_p.V2046V|ACACA_ENST00000360679.3_Silent_p.V2066V	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2124	Carboxyltransferase.				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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATTTGATTTCTACTGTCCCTT	0.458																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(6370-6372)GTA>GTC		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						144.0	126.0	132.0					17																	35468548		2203	4300	6503	SO:0001819	synonymous_variant	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35468548T>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.6372A>C	17.37:g.35468548T>G						ACACA_uc002hnk.2_Silent_p.V2046V|ACACA_uc002hnl.2_Silent_p.V2066V|ACACA_uc002hnn.2_Silent_p.V2124V|ACACA_uc002hno.2_Silent_p.V2161V|ACACA_uc010cuy.2_Silent_p.V769V|ACACA_uc010wdb.1_Silent_p.V162V|ACACA_uc010wdc.1_Silent_p.V250V	p.V2124V	NM_198836	NP_942133	Q13085	ACACA_HUMAN			52	6563	-		Breast(25;0.00157)|Ovarian(249;0.15)	2124			Carboxyltransferase.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	SNP	ENST00000394406.2	37	c.6372A>C	CCDS11317.1																																																																																				0.458	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		27	71	0	0	0	0	27	71				
RPL23	9349	broad.mit.edu	37	17	37009953	37009953	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:37009953C>G	ENST00000479035.2	-	1	143	c.11G>C	c.(10-12)cGa>cCa	p.R4P	RPL23_ENST00000245857.5_5'Flank|RPL23_ENST00000394333.1_Missense_Mutation_p.R4P|RPL23_ENST00000394332.1_Missense_Mutation_p.R4P|SNORA21_ENST00000362423.1_RNA|RPL23_ENST00000577407.1_Missense_Mutation_p.R4P|SNORA21_ENST00000516890.1_RNA	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	4					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)|ribosomal protein import into nucleus (GO:0006610)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)	3						AACCTCACCTCGCTTCGACAT	0.562																																						uc002hqx.1		NA																	0					0						c.(10-12)CGA>CCA		ribosomal protein L23							73.0	62.0	66.0					17																	37009953		2203	4300	6503	SO:0001583	missense	9349				endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chr17:37009953C>G	X52839	CCDS11330.1	17q12	2011-04-06			ENSG00000125691	ENSG00000125691		"""L ribosomal proteins"""	10316	protein-coding gene	gene with protein product		603662				1861993	Standard	NM_000978		Approved	rpL17, L23	uc002hqx.1	P62829	OTTHUMG00000133118	ENST00000479035.2:c.11G>C	17.37:g.37009953C>G	ENSP00000420311:p.Arg4Pro					RPL23_uc002hqw.1_5'Flank|RPL23_uc002hqy.1_Missense_Mutation_p.R4P|SNORA21_uc002hqz.1_5'Flank	p.R4P	NM_000978	NP_000969	P62829	RL23_HUMAN			1	101	-			4					P23131|P24048|Q29246|Q3SWV7|Q6P5S1	Missense_Mutation	SNP	ENST00000479035.2	37	c.11G>C	CCDS11330.1	.	.	.	.	.	.	.	.	.	.	C	35	5.488755	0.96323	.	.	ENSG00000125691	ENST00000479035;ENST00000394333;ENST00000394332	D;D;D	0.87103	-2.21;-2.21;-2.21	6.06	6.06	0.98353	.	1.315800	0.05113	N	0.489334	D	0.95639	0.8582	M	0.87328	2.875	0.80722	D	1	D;D	0.76494	0.999;0.978	D;B	0.76575	0.988;0.422	D	0.88511	0.3089	10	0.72032	D	0.01	-3.5016	19.1847	0.93639	0.0:1.0:0.0:0.0	.	4;4	B9ZVP7;P62829	.;RL23_HUMAN	P	4	ENSP00000420311:R4P;ENSP00000377866:R4P;ENSP00000377865:R4P	ENSP00000377865:R4P	R	-	2	0	RPL23	34263479	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.693000	0.68264	2.882000	0.98803	0.655000	0.94253	CGA		0.562	RPL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256785.3	NM_000978		5	26	0	0	0	0	5	26				
KRT25	147183	broad.mit.edu	37	17	38910665	38910665	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:38910665C>T	ENST00000312150.4	-	2	545	c.485G>A	c.(484-486)aGg>aAg	p.R162K		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCTGTAAGCCTGGCATTATC	0.393																																						uc002hve.2		NA																	0				ovary(2)	2						c.(484-486)AGG>AAG		keratin 25							130.0	124.0	126.0					17																	38910665		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38910665C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.485G>A	17.37:g.38910665C>T	ENSP00000310573:p.Arg162Lys						p.R162K	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			2	546	-		Breast(137;0.00526)	162			Rod.|Coil 1B.			Missense_Mutation	SNP	ENST00000312150.4	37	c.485G>A	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458553	0.84317	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.88975	-2.45	5.73	4.76	0.60689	Filament (1);	0.000000	0.64402	D	0.000002	D	0.89008	0.6593	L	0.31294	0.92	0.32766	N	0.504509	D	0.55605	0.972	D	0.64237	0.923	D	0.87170	0.2220	10	0.12430	T	0.62	.	14.8388	0.70206	0.0:0.9307:0.0:0.0693	.	162	Q7Z3Z0	K1C25_HUMAN	K	162	ENSP00000310573:R162K	ENSP00000310573:R162K	R	-	2	0	KRT25	36164191	0.114000	0.22134	1.000000	0.80357	0.947000	0.59692	0.539000	0.23175	1.419000	0.47118	0.655000	0.94253	AGG		0.393	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		27	73	0	0	0	0	27	73				
KRT12	3859	broad.mit.edu	37	17	39019473	39019473	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:39019473C>A	ENST00000251643.4	-	6	1241	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	406	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.E406D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CGTTCTGGCGCTCTGCGTCCG	0.672																																						uc002hvk.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1216-1218)GAG>GAT		keratin 12							25.0	23.0	24.0					17																	39019473		2200	4292	6492	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019473C>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.1218G>T	17.37:g.39019473C>A	ENSP00000251643:p.Glu406Asp						p.E406D	NM_000223	NP_000214	Q99456	K1C12_HUMAN			6	1242	-		Breast(137;0.000301)	406			Rod.|Coil 2.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.1218G>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367067	0.61513	.	.	ENSG00000187242	ENST00000251643	D	0.89939	-2.59	5.05	4.09	0.47781	Filament (1);	0.000000	0.51477	D	0.000086	D	0.94703	0.8291	M	0.92317	3.295	0.41466	D	0.988079	D	0.89917	1.0	D	0.73708	0.981	D	0.94660	0.7847	10	0.87932	D	0	.	8.4926	0.33108	0.0:0.7682:0.0:0.2318	.	406	Q99456	K1C12_HUMAN	D	406	ENSP00000251643:E406D	ENSP00000251643:E406D	E	-	3	2	KRT12	36272999	0.942000	0.31987	1.000000	0.80357	0.500000	0.33767	0.869000	0.27996	1.381000	0.46364	-0.333000	0.08304	GAG		0.672	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223		18	26	1	0	3.33e-07	5.55e-07	18	26				
KRTAP1-3	81850	broad.mit.edu	37	17	39190992	39190992	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:39190992T>C	ENST00000344363.5	-	1	115	c.82A>G	c.(82-84)Agc>Ggc	p.S28G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	28						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TCACAGCAGCTTGGCTGGCAG	0.597																																						uc002hvv.2		NA																	0					0						c.(82-84)AGC>GGC		keratin associated protein 1-3							35.0	43.0	41.0					17																	39190992		1965	4169	6134	SO:0001583	missense	81850					extracellular region|keratin filament	structural constituent of epidermis	g.chr17:39190992T>C	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.82A>G	17.37:g.39190992T>C	ENSP00000344420:p.Ser28Gly						p.S28G	NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	116	-		Breast(137;0.000496)	28					Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	c.82A>G	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.859329	0.32884	.	.	ENSG00000221880	ENST00000344363	T	0.33438	1.41	3.97	2.88	0.33553	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.09310	N	1	B	0.26445	0.149	B	0.32211	0.142	T	0.23511	-1.0186	8	0.38643	T	0.18	.	5.9496	0.19237	0.0:0.1175:0.0:0.8825	.	38	Q8IUG1	KRA13_HUMAN	G	28	ENSP00000344420:S28G	ENSP00000344420:S28G	S	-	1	0	KRTAP1-3	36444518	0.204000	0.23447	0.010000	0.14722	0.719000	0.41307	3.160000	0.50739	0.864000	0.35578	0.460000	0.39030	AGC		0.597	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			34	57	0	0	0	0	34	57				
KRT33B	3884	broad.mit.edu	37	17	39521745	39521745	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:39521745G>T	ENST00000251646.3	-	4	698	c.649C>A	c.(649-651)Ccc>Acc	p.P217T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	217	Linker 12.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACAGCGGGAGCAGCGTCC	0.557																																						uc002hwl.2		NA																	0					0						c.(649-651)CCC>ACC		type I hair keratin 3B							70.0	67.0	68.0					17																	39521745		2191	4300	6491	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39521745G>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.649C>A	17.37:g.39521745G>T	ENSP00000251646:p.Pro217Thr						p.P217T	NM_002279	NP_002270	Q14525	KT33B_HUMAN			4	694	-		Breast(137;0.000496)	217			Linker 12.|Rod.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.649C>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	g	17.77	3.471443	0.63737	.	.	ENSG00000131738	ENST00000251646	D	0.88896	-2.44	4.78	4.78	0.61160	Filament (1);	0.000000	0.64402	D	0.000007	D	0.95937	0.8677	M	0.94063	3.49	0.45607	D	0.998549	D	0.76494	0.999	D	0.83275	0.996	D	0.96878	0.9644	10	0.87932	D	0	.	17.3136	0.87216	0.0:0.0:1.0:0.0	.	217	Q14525	KT33B_HUMAN	T	217	ENSP00000251646:P217T	ENSP00000251646:P217T	P	-	1	0	KRT33B	36775271	1.000000	0.71417	0.995000	0.50966	0.112000	0.19704	6.353000	0.73032	2.624000	0.88883	0.650000	0.86243	CCC		0.557	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		17	49	1	0	4.15e-12	7.62e-12	17	49				
KRT34	3885	broad.mit.edu	37	17	39535393	39535393	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:39535393C>A	ENST00000394001.1	-	6	1068	c.1038G>T	c.(1036-1038)gaG>gaT	p.E346D		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	346	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TGTAGTGGGCCTCGCTCTCCG	0.577																																						uc002hwm.2		NA																	0				central_nervous_system(1)	1						c.(1036-1038)GAG>GAT		keratin 34							91.0	82.0	85.0					17																	39535393		2203	4300	6503	SO:0001583	missense	3885				epidermis development	intermediate filament	protein binding|structural molecule activity	g.chr17:39535393C>A	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.1038G>T	17.37:g.39535393C>A	ENSP00000377570:p.Glu346Asp						p.E346D	NM_021013	NP_066293	O76011	KRT34_HUMAN			6	1050	-		Breast(137;0.000496)	346			Rod.|Coil 2.		Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	37	c.1038G>T	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	c	20.8	4.042726	0.75732	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	4.91	3.94	0.45596	Filament (1);	0.000000	0.64402	D	0.000004	T	0.81795	0.4898	M	0.92555	3.32	0.36039	D	0.839943	D	0.89917	1.0	D	0.79108	0.992	D	0.87917	0.2701	9	0.87932	D	0	.	10.931	0.47217	0.0:0.8398:0.0:0.1602	.	346	O76011	KRT34_HUMAN	D	304;346	.	ENSP00000251648:E346D	E	-	3	2	KRT34	36788919	0.001000	0.12720	1.000000	0.80357	0.733000	0.41908	0.016000	0.13377	1.201000	0.43203	0.555000	0.69702	GAG		0.577	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013		39	65	1	0	3.66e-28	7.66e-28	39	65				
FAM134C	162427	broad.mit.edu	37	17	40734205	40734205	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:40734205G>C	ENST00000309428.5	-	9	1086	c.1027C>G	c.(1027-1029)Ctg>Gtg	p.L343V	FAM134C_ENST00000585894.1_Missense_Mutation_p.L246V|FAM134C_ENST00000543197.1_Missense_Mutation_p.L148V	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	343						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)		TCATCATCCAGGCCAGCAGGA	0.567																																						uc002ial.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1027-1029)CTG>GTG		hypothetical protein LOC162427							98.0	94.0	95.0					17																	40734205		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40734205G>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.1027C>G	17.37:g.40734205G>C	ENSP00000309432:p.Leu343Val					FAM134C_uc010wgq.1_Missense_Mutation_p.L143V|FAM134C_uc002iam.1_Missense_Mutation_p.L143V|FAM134C_uc010cyk.1_Missense_Mutation_p.L246V	p.L343V	NM_178126	NP_835227	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	9	1130	-		Breast(137;0.00116)	343					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.1027C>G	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	G	5.898	0.349790	0.11182	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.43688	0.94;0.96	6.04	5.08	0.68730	.	0.098174	0.64402	D	0.000002	T	0.31199	0.0789	L	0.44542	1.39	0.42422	D	0.992643	P	0.43287	0.802	B	0.36719	0.231	T	0.09271	-1.0682	10	0.30078	T	0.28	-11.2737	9.6711	0.40013	0.0689:0.0:0.6821:0.249	.	343	Q86VR2	F134C_HUMAN	V	343;148	ENSP00000309432:L343V;ENSP00000446235:L148V	ENSP00000309432:L343V	L	-	1	2	FAM134C	37987731	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.690000	0.54713	1.568000	0.49683	0.563000	0.77884	CTG		0.567	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		39	90	0	0	0	0	39	90				
RUNDC1	146923	broad.mit.edu	37	17	41133041	41133041	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:41133041G>C	ENST00000361677.1	+	1	460	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	PTGES3L-AARSD1_ENST00000409103.1_5'Flank|PTGES3L-AARSD1_ENST00000360221.4_5'Flank|PTGES3L-AARSD1_ENST00000421990.2_5'Flank|PTGES3L_ENST00000453594.1_5'Flank|PTGES3L_ENST00000409446.3_5'Flank|PTGES3L-AARSD1_ENST00000409399.1_5'Flank	NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	150										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CGCCAGCGATGAGGGCGATGG	0.697																																						uc002ici.1		NA																	0					0						c.(448-450)GAG>CAG		RUN domain containing 1							3.0	4.0	3.0					17																	41133041		1809	3590	5399	SO:0001583	missense	146923							g.chr17:41133041G>C	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.448G>C	17.37:g.41133041G>C	ENSP00000354622:p.Glu150Gln					AARSD1_uc002icd.2_5'Flank|AARSD1_uc002ice.2_5'Flank|AARSD1_uc002icf.2_5'Flank|AARSD1_uc010whg.1_5'Flank|AARSD1_uc002icg.2_5'Flank|AARSD1_uc002ich.2_5'Flank|AARSD1_uc010whh.1_5'Flank|RUNDC1_uc010whi.1_5'UTR	p.E150Q	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	1	460	+		Breast(137;0.00499)	150					Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.448G>C	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	G	8.878	0.951048	0.18431	.	.	ENSG00000198863	ENST00000361677	T	0.73681	-0.77	4.73	4.73	0.59995	.	0.685403	0.13692	N	0.369447	T	0.66963	0.2843	L	0.42245	1.32	0.36303	D	0.857136	B	0.17667	0.023	B	0.22386	0.039	T	0.64368	-0.6424	10	0.22109	T	0.4	-9.9632	12.643	0.56720	0.0:0.1668:0.8332:0.0	.	150	Q96C34	RUND1_HUMAN	Q	150	ENSP00000354622:E150Q	ENSP00000354622:E150Q	E	+	1	0	RUNDC1	38386567	1.000000	0.71417	0.808000	0.32385	0.243000	0.25628	3.486000	0.53215	2.440000	0.82611	0.549000	0.68633	GAG		0.697	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		4	6	0	0	0	0	4	6				
ADAM11	4185	broad.mit.edu	37	17	42854579	42854579	+	Missense_Mutation	SNP	C	C	T	rs370482564		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:42854579C>T	ENST00000200557.6	+	21	1896	c.1727C>T	c.(1726-1728)aCg>aTg	p.T576M	ADAM11_ENST00000535346.1_Missense_Mutation_p.T376M	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	576	Cys-rich.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GTGGAGGGGACGGAGCGTGGG	0.647																																						uc002ihh.2		NA																	0				pancreas(1)	1						c.(1726-1728)ACG>ATG		ADAM metallopeptidase domain 11 preproprotein		C	MET/THR	0,4406		0,0,2203	54.0	55.0	55.0		1727	4.4	1.0	17		55	2,8598	2.2+/-6.3	0,2,4298	no	missense	ADAM11	NM_002390.4	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	576/770	42854579	2,13004	2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42854579C>T	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1727C>T	17.37:g.42854579C>T	ENSP00000200557:p.Thr576Met					ADAM11_uc010wjd.1_Missense_Mutation_p.T376M|ADAM11_uc002ihi.2_5'Flank	p.T576M	NM_002390	NP_002381	O75078	ADA11_HUMAN			21	1727	+		Prostate(33;0.0959)	576			Cys-rich.|Extracellular (Potential).		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.1727C>T	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607329	0.87157	0.0	2.33E-4	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.23348	1.91;1.91	4.43	4.43	0.53597	ADAM, cysteine-rich (2);	0.058353	0.64402	D	0.000003	T	0.58793	0.2147	M	0.90705	3.14	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.78314	0.991;0.831	T	0.69371	-0.5163	10	0.72032	D	0.01	.	16.687	0.85311	0.0:1.0:0.0:0.0	.	376;576	B4DKD2;O75078	.;ADA11_HUMAN	M	576;376;476	ENSP00000200557:T576M;ENSP00000443773:T376M	ENSP00000200557:T576M	T	+	2	0	ADAM11	40210105	1.000000	0.71417	0.974000	0.42286	0.878000	0.50629	5.670000	0.68088	2.405000	0.81733	0.478000	0.44815	ACG		0.647	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		9	35	0	0	0	0	9	35				
EFTUD2	9343	broad.mit.edu	37	17	42931930	42931931	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:42931930_42931931GG>AA	ENST00000426333.2	-	22	2549_2550	c.2252_2253CC>TT	c.(2251-2253)cCC>cTT	p.P751L	EFTUD2_ENST00000402521.3_Missense_Mutation_p.P716L|EFTUD2_ENST00000592576.1_Missense_Mutation_p.P741L|EFTUD2_ENST00000591382.1_Missense_Mutation_p.P751L	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	751					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GTACCTCAGAGGGCAGAGTATC	0.52																																					Ovarian(10;65 485 10258 29980 30707)	uc002ihn.2		NA																	0				ovary(1)	1						c.(2251-2253)CCC>CTT		elongation factor Tu GTP binding domain																																				SO:0001583	missense	9343					Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	g.chr17:42931930_42931931GG>AA	D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.2252_2253delinsAA	17.37:g.42931930_42931931delinsAA	ENSP00000392094:p.Pro751Leu					EFTUD2_uc010wje.1_Missense_Mutation_p.P716L|EFTUD2_uc010wjf.1_Missense_Mutation_p.P741L	p.P751L	NM_004247	NP_004238	Q15029	U5S1_HUMAN			22	2513_2514	-		Prostate(33;0.109)	751					B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	DNP	ENST00000426333.2	37	c.2252_2253CC>TT	CCDS11489.1																																																																																				0.520	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247		26	101	0	0	0	0	26	101				
UTP18	51096	broad.mit.edu	37	17	49353297	49353297	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:49353297C>A	ENST00000225298.7	+	6	839	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	261					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CAGTTCCATCCCGGTGCACAG	0.383																																						uc002its.2		NA																	0					0						c.(781-783)CCC>CAC		UTP18, small subunit processome component							89.0	91.0	90.0					17																	49353297		1911	4125	6036	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49353297C>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.782C>A	17.37:g.49353297C>A	ENSP00000225298:p.Pro261His						p.P261H	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		6	831	+			261			WD 1.		Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.782C>A	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154872	0.78114	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.25579	1.79	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.61510	-0.7048	10	0.87932	D	0	-16.6136	18.8399	0.92180	0.0:1.0:0.0:0.0	.	261	Q9Y5J1	UTP18_HUMAN	H	261;237	ENSP00000225298:P261H	ENSP00000225298:P261H	P	+	2	0	UTP18	46708296	1.000000	0.71417	0.970000	0.41538	0.882000	0.50991	4.650000	0.61440	2.885000	0.99019	0.655000	0.94253	CCC		0.383	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		14	21	1	0	2.32e-09	4.08e-09	14	21				
MSI2	124540	broad.mit.edu	37	17	55607074	55607074	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:55607074A>G	ENST00000284073.2	+	7	652	c.443A>G	c.(442-444)aAc>aGc	p.N148S	MSI2_ENST00000579180.1_Missense_Mutation_p.N44S|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.N87S|MSI2_ENST00000322684.3_Missense_Mutation_p.N144S|MSI2_ENST00000416426.2_Missense_Mutation_p.N126S	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	148	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.N144S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AAAACTACCAACAGGCACAGA	0.428			T	HOXA9	CML																																	uc002iuz.1		NA		Dom	yes		17	17q23.2	124540	T	musashi homolog 2 (Drosophila)			L	HOXA9		CML		1	Substitution - Missense(1)	p.N144S(1)	pancreas(1)	central_nervous_system(1)|pancreas(1)	2						c.(442-444)AAC>AGC		musashi 2 isoform a							134.0	120.0	124.0					17																	55607074		2203	4300	6503	SO:0001583	missense	124540					cytoplasm	nucleotide binding|RNA binding	g.chr17:55607074A>G	BC001526	CCDS11596.1, CCDS11597.1	17q23.2	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	18585	protein-coding gene	gene with protein product		607897	"""musashi homolog 2 (Drosophila)"""			11588182	Standard	NM_138962		Approved		uc002iuz.1	Q96DH6		ENST00000284073.2:c.443A>G	17.37:g.55607074A>G	ENSP00000284073:p.Asn148Ser					MSI2_uc010wnm.1_Missense_Mutation_p.N126S|MSI2_uc002iva.2_Missense_Mutation_p.N144S	p.N148S	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN		GBM - Glioblastoma multiforme(1;0.0025)	7	616	+	Breast(9;1.78e-08)		148			RRM 2.		Q7Z6M7|Q8N9T4	Missense_Mutation	SNP	ENST00000284073.2	37	c.443A>G	CCDS11596.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.200232	0.58126	.	.	ENSG00000153944	ENST00000416426;ENST00000284073;ENST00000322684;ENST00000442934	D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.213564	0.46442	D	0.000290	D	0.82793	0.5114	L	0.46947	1.48	0.48696	D	0.999695	B;B;B	0.33583	0.357;0.109;0.418	B;B;B	0.35607	0.079;0.061;0.206	T	0.82552	-0.0400	10	0.51188	T	0.08	.	16.0821	0.81012	1.0:0.0:0.0:0.0	.	126;144;148	B4DHE8;Q96DH6-2;Q96DH6	.;.;MSI2H_HUMAN	S	126;148;144;87	ENSP00000414671:N126S;ENSP00000284073:N148S;ENSP00000313616:N144S;ENSP00000392607:N87S	ENSP00000284073:N148S	N	+	2	0	MSI2	52962073	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.232000	0.78116	2.200000	0.70718	0.460000	0.39030	AAC		0.428	MSI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441813.1			13	30	0	0	0	0	13	30				
C17orf47	284083	broad.mit.edu	37	17	56619276	56619276	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:56619276C>A	ENST00000321691.3	-	2	1794	c.1613G>T	c.(1612-1614)tGc>tTc	p.C538F	SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	538										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGGAAAAGCACAGACCTTT	0.493																																						uc002iwq.1		NA																	0				breast(1)	1						c.(1612-1614)TGC>TTC		hypothetical protein LOC284083							142.0	127.0	132.0					17																	56619276		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56619276C>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1613G>T	17.37:g.56619276C>A	ENSP00000354874:p.Cys538Phe					SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.C538F	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			2	1749	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		538					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1613G>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	8.186	0.794877	0.16327	.	.	ENSG00000181013	ENST00000321691	T	0.24723	1.84	5.78	2.71	0.32032	.	0.267435	0.33515	N	0.004835	T	0.17789	0.0427	L	0.32530	0.975	0.35169	D	0.771397	P	0.43826	0.818	B	0.43950	0.437	T	0.18178	-1.0345	10	0.07990	T	0.79	-4.9093	8.3781	0.32455	0.0:0.7542:0.0:0.2458	.	538	Q8NEP4	CQ047_HUMAN	F	538	ENSP00000354874:C538F	ENSP00000354874:C538F	C	-	2	0	C17orf47	53974275	0.639000	0.27234	0.879000	0.34478	0.875000	0.50365	0.302000	0.19192	0.367000	0.24454	-0.263000	0.10527	TGC		0.493	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		46	102	1	0	2.01e-17	3.98e-17	46	102				
CCDC47	57003	broad.mit.edu	37	17	61833679	61833679	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:61833679C>A	ENST00000225726.5	-	8	1251	c.869G>T	c.(868-870)gGa>gTa	p.G290V	CCDC47_ENST00000403162.3_Missense_Mutation_p.G290V|CCDC47_ENST00000582252.1_Missense_Mutation_p.G290V	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	290					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ATACTTTGCTCCAGACTTAGG	0.408																																						uc002jbs.3		NA																	0					0						c.(868-870)GGA>GTA		coiled-coil domain containing 47 precursor							102.0	99.0	100.0					17																	61833679		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61833679C>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.869G>T	17.37:g.61833679C>A	ENSP00000225726:p.Gly290Val					CCDC47_uc010ddx.2_Missense_Mutation_p.G290V|CCDC47_uc002jbt.2_Missense_Mutation_p.G290V	p.G290V	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			8	1205	-			290					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.869G>T	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.282061	0.40394	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.54	5.54	0.83059	.	0.047315	0.85682	D	0.000000	T	0.68348	0.2991	L	0.51422	1.61	0.80722	D	1	D;D	0.63880	0.959;0.993	P;D	0.64595	0.675;0.927	T	0.65874	-0.6062	9	0.41790	T	0.15	-17.2451	14.4394	0.67306	0.0:0.853:0.147:0.0	.	290;290	Q96A33-2;Q96A33	.;CCD47_HUMAN	V	290	.	ENSP00000225726:G290V	G	-	2	0	CCDC47	59187411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.648000	0.67930	2.765000	0.95021	0.655000	0.94253	GGA		0.408	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		21	49	1	0	2.38e-13	4.46e-13	21	49				
CCDC47	57003	broad.mit.edu	37	17	61843413	61843413	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:61843413T>C	ENST00000225726.5	-	2	505	c.123A>G	c.(121-123)gaA>gaG	p.E41E	CCDC47_ENST00000403162.3_Silent_p.E41E|CCDC47_ENST00000582252.1_Silent_p.E41E	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	41					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CATCCTCAAATTCAGCGAAGT	0.443																																						uc002jbs.3		NA																	0					0						c.(121-123)GAA>GAG		coiled-coil domain containing 47 precursor							199.0	180.0	186.0					17																	61843413		2203	4300	6503	SO:0001819	synonymous_variant	57003					integral to membrane	protein binding	g.chr17:61843413T>C	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.123A>G	17.37:g.61843413T>C						CCDC47_uc010ddx.2_Silent_p.E41E|CCDC47_uc002jbt.2_Silent_p.E41E	p.E41E	NM_020198	NP_064583	Q96A33	CCD47_HUMAN			2	459	-			41					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Silent	SNP	ENST00000225726.5	37	c.123A>G	CCDS11643.1																																																																																				0.443	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	NM_020198		59	129	0	0	0	0	59	129				
RGS9	8787	broad.mit.edu	37	17	63206682	63206682	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:63206682G>T	ENST00000262406.9	+	17	1433	c.1366G>T	c.(1366-1368)Gcc>Tcc	p.A456S	RGS9_ENST00000443584.3_Missense_Mutation_p.A453S|RGS9_ENST00000449996.3_Missense_Mutation_p.A453S	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	456					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GGAAGAGGAAGCCAAGGCCCG	0.567																																						uc002jfe.2		NA																	0				ovary(2)|skin(2)	4						c.(1366-1368)GCC>TCC		regulator of G-protein signaling 9 isoform 1							76.0	81.0	80.0					17																	63206682		2043	4197	6240	SO:0001583	missense	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63206682G>T	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1366G>T	17.37:g.63206682G>T	ENSP00000262406:p.Ala456Ser					RGS9_uc010dem.2_Missense_Mutation_p.A453S|RGS9_uc002jfd.2_Missense_Mutation_p.A453S|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.A227S	p.A456S	NM_003835	NP_003826	O75916	RGS9_HUMAN			17	1476	+			456					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	ENST00000262406.9	37	c.1366G>T	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425701	0.43020	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.31510	1.49;1.49	5.16	5.16	0.70880	.	0.357170	0.30771	N	0.008904	T	0.30417	0.0764	L	0.44542	1.39	0.30779	N	0.742219	B;B;B	0.23806	0.044;0.055;0.091	B;B;B	0.23275	0.022;0.033;0.045	T	0.13522	-1.0506	10	0.33141	T	0.24	.	19.013	0.92881	0.0:0.0:1.0:0.0	.	456;456;453	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	S	456;453	ENSP00000262406:A456S;ENSP00000396329:A453S	ENSP00000262406:A456S	A	+	1	0	RGS9	60637144	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.298000	0.65710	2.571000	0.86741	0.655000	0.94253	GCC		0.567	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1	NM_003835		28	69	1	0	1.55e-18	3.12e-18	28	69				
HELZ	9931	broad.mit.edu	37	17	65119097	65119097	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:65119097C>T	ENST00000358691.5	-	26	3785	c.3619G>A	c.(3619-3621)Gtg>Atg	p.V1207M	HELZ_ENST00000580168.1_Missense_Mutation_p.V1208M	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1207						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTAAAGGCACCGACATAACT	0.378																																						uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(3622-3624)GTG>ATG		helicase with zinc finger domain							116.0	106.0	109.0					17																	65119097		1849	4094	5943	SO:0001583	missense	9931							g.chr17:65119097C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.3619G>A	17.37:g.65119097C>T	ENSP00000351524:p.Val1207Met					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.V1207M	p.V1208M	NM_014877	NP_055692					26	3809	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.3622G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168516	0.38315	.	.	ENSG00000198265	ENST00000358691	D	0.83506	-1.73	5.51	5.51	0.81932	.	0.152045	0.64402	D	0.000015	T	0.67487	0.2898	N	0.03115	-0.41	0.43417	D	0.995562	B;B	0.27229	0.172;0.172	B;B	0.22152	0.038;0.038	T	0.64037	-0.6501	10	0.26408	T	0.33	-6.1619	19.7791	0.96410	0.0:1.0:0.0:0.0	.	1208;1207	B7ZLW2;P42694	.;HELZ_HUMAN	M	1207	ENSP00000351524:V1207M	ENSP00000351524:V1207M	V	-	1	0	HELZ	62549559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.334000	0.65923	2.737000	0.93849	0.655000	0.94253	GTG		0.378	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		11	47	0	0	0	0	11	47				
HELZ	9931	broad.mit.edu	37	17	65162623	65162623	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:65162623C>T	ENST00000358691.5	-	15	2032	c.1866G>A	c.(1864-1866)atG>atA	p.M622I	HELZ_ENST00000580168.1_Missense_Mutation_p.M622I	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	622						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGGTGGGAGTCATACTGATGT	0.363																																						uc010wqk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1864-1866)ATG>ATA		helicase with zinc finger domain							150.0	139.0	142.0					17																	65162623		1872	4117	5989	SO:0001583	missense	9931							g.chr17:65162623C>T	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1866G>A	17.37:g.65162623C>T	ENSP00000351524:p.Met622Ile					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.M622I	p.M622I	NM_014877	NP_055692					15	2053	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1866G>A	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567648	0.45798	.	.	ENSG00000198265	ENST00000358691	D	0.82526	-1.62	5.62	5.62	0.85841	.	0.085526	0.85682	D	0.000000	T	0.74535	0.3729	N	0.19112	0.55	0.58432	D	0.999993	B;B	0.26775	0.125;0.159	B;B	0.22601	0.04;0.015	T	0.69569	-0.5110	10	0.36615	T	0.2	-12.4382	19.6559	0.95842	0.0:1.0:0.0:0.0	.	622;622	B7ZLW2;P42694	.;HELZ_HUMAN	I	622	ENSP00000351524:M622I	ENSP00000351524:M622I	M	-	3	0	HELZ	62593085	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.432000	0.52824	2.657000	0.90304	0.491000	0.48974	ATG		0.363	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		20	44	0	0	0	0	20	44				
NOL11	25926	broad.mit.edu	37	17	65717512	65717512	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:65717512A>G	ENST00000253247.4	+	4	446	c.331A>G	c.(331-333)Agg>Ggg	p.R111G	NOL11_ENST00000535137.1_5'UTR|NOL11_ENST00000581966.1_3'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	111					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAGTATATAGGATACTTTC	0.368																																						uc002jgd.1		NA																	0					0						c.(331-333)AGG>GGG		nucleolar protein 11							86.0	86.0	86.0					17																	65717512		2203	4300	6503	SO:0001583	missense	25926					nucleolus		g.chr17:65717512A>G	AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.331A>G	17.37:g.65717512A>G	ENSP00000253247:p.Arg111Gly					NOL11_uc010wql.1_Translation_Start_Site|NOL11_uc010deu.1_Translation_Start_Site	p.R111G	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	334	+	all_cancers(12;1.54e-10)		111					B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	ENST00000253247.4	37	c.331A>G	CCDS11671.1	.	.	.	.	.	.	.	.	.	.	A	7.561	0.664777	0.14710	.	.	ENSG00000130935	ENST00000253247	T	0.22945	1.93	5.28	4.17	0.49024	.	0.083285	0.85682	D	0.000000	T	0.26593	0.0650	M	0.63843	1.955	0.80722	D	1	P	0.51933	0.949	B	0.41571	0.36	T	0.05022	-1.0911	10	0.72032	D	0.01	-18.1228	9.7702	0.40585	0.6651:0.3349:0.0:0.0	.	111	Q9H8H0	NOL11_HUMAN	G	111	ENSP00000253247:R111G	ENSP00000253247:R111G	R	+	1	2	NOL11	63147974	0.884000	0.30299	0.752000	0.31206	0.472000	0.32918	1.740000	0.38228	0.921000	0.36994	0.459000	0.35465	AGG		0.368	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462		16	61	0	0	0	0	16	61				
ABCA8	10351	broad.mit.edu	37	17	66871844	66871844	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:66871844C>G	ENST00000269080.2	-	34	4418	c.4281G>C	c.(4279-4281)acG>acC	p.T1427T	ABCA8_ENST00000430352.2_Silent_p.T1467T|ABCA8_ENST00000586539.1_Silent_p.T1467T	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1427	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CACCCCTTTCCGTGTTTCTAA	0.488																																						uc002jhp.2		NA																	0				ovary(2)|skin(1)	3						c.(4279-4281)ACG>ACC		ATP-binding cassette, sub-family A member 8							79.0	62.0	68.0					17																	66871844		2203	4300	6503	SO:0001819	synonymous_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66871844C>G	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4281G>C	17.37:g.66871844C>G						ABCA8_uc002jhq.2_Silent_p.T1467T|ABCA8_uc010wqq.1_Silent_p.T1462T	p.T1427T	NM_007168	NP_009099	O94911	ABCA8_HUMAN			34	4460	-	Breast(10;4.56e-13)		1427			ABC transporter 2.		A1L3U3|C9JQE6|Q86WW0	Silent	SNP	ENST00000269080.2	37	c.4281G>C	CCDS11680.1																																																																																				0.488	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		12	32	0	0	0	0	12	32				
DNAI2	64446	broad.mit.edu	37	17	72301505	72301505	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:72301505A>T	ENST00000311014.6	+	9	1202	c.1135A>T	c.(1135-1137)Aac>Tac	p.N379Y	RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.N236Y|DNAI2_ENST00000446837.2_Missense_Mutation_p.N379Y|DNAI2_ENST00000582036.1_Missense_Mutation_p.N379Y|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000579490.1_Missense_Mutation_p.N436Y			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	379					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTACCCGAAGAACTTCCTGAC	0.577									Kartagener syndrome																													uc002jkf.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1135-1137)AAC>TAC		dynein, axonemal, intermediate polypeptide 2							71.0	67.0	69.0					17																	72301505		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72301505A>T	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1135A>T	17.37:g.72301505A>T	ENSP00000308312:p.Asn379Tyr					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_3'UTR|DNAI2_uc002jki.2_RNA	p.N379Y	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			9	1234	+			379			WD 4.		C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1135A>T	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358901	0.24598	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.31510	1.49;1.49;1.49	4.96	4.96	0.65561	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.088972	0.85682	D	0.000000	T	0.29190	0.0726	L	0.43646	1.37	0.58432	D	0.999994	B	0.21225	0.053	B	0.31390	0.129	T	0.08452	-1.0721	10	0.40728	T	0.16	-58.7534	10.7546	0.46230	0.9229:0.0:0.0771:0.0	.	379	Q9GZS0	DNAI2_HUMAN	Y	379;236;379	ENSP00000308312:N379Y;ENSP00000302929:N236Y;ENSP00000400252:N379Y	ENSP00000302929:N236Y	N	+	1	0	DNAI2	69813100	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	5.992000	0.70609	1.877000	0.54381	0.454000	0.30748	AAC		0.577	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036		34	36	0	0	0	0	34	36				
LLGL2	3993	broad.mit.edu	37	17	73569302	73569302	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:73569302A>G	ENST00000392550.3	+	20	2785	c.2668A>G	c.(2668-2670)Atc>Gtc	p.I890V	LLGL2_ENST00000167462.5_Missense_Mutation_p.I890V|LLGL2_ENST00000577200.1_Missense_Mutation_p.I890V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	890					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)			CTACAGCTGCATCCGCCGGGA	0.662																																						uc002joh.2		NA																	0				ovary(2)	2						c.(2668-2670)ATC>GTC		lethal giant larvae homolog 2 isoform c							60.0	54.0	56.0					17																	73569302		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.chr17:73569302A>G	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.2668A>G	17.37:g.73569302A>G	ENSP00000376333:p.Ile890Val					LLGL2_uc002joi.2_Missense_Mutation_p.I890V|LLGL2_uc010dgg.1_Missense_Mutation_p.I890V|LLGL2_uc002joj.2_Missense_Mutation_p.I879V|LLGL2_uc010wsd.1_Missense_Mutation_p.I517V	p.I890V	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	2822	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		890					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2668A>G	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097135	0.37048	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.05649	3.41;3.53	5.15	5.15	0.70609	.	0.049361	0.85682	D	0.000000	T	0.07234	0.0183	L	0.41824	1.3	0.48395	D	0.999644	B;B;B;B;B	0.31009	0.296;0.127;0.201;0.15;0.303	B;B;B;B;B	0.31101	0.124;0.047;0.102;0.124;0.05	T	0.38714	-0.9648	10	0.22706	T	0.39	-0.2391	15.0295	0.71696	1.0:0.0:0.0:0.0	.	517;879;879;890;890	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	V	890;890;879	ENSP00000167462:I890V;ENSP00000376333:I890V	ENSP00000167462:I890V	I	+	1	0	LLGL2	71080897	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.316000	0.72857	1.950000	0.56595	0.329000	0.21502	ATC		0.662	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		28	59	0	0	0	0	28	59				
AFMID	125061	broad.mit.edu	37	17	76200969	76200969	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:76200969A>G	ENST00000327898.5	+	6	464	c.455A>G	c.(454-456)tAt>tGt	p.Y152C	AFMID_ENST00000409257.5_Missense_Mutation_p.Y152C|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000589664.1_3'UTR					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CAGAAGCGGTATCCAAGCAAC	0.557																																						uc002jva.3		NA																	0				large_intestine(1)|pancreas(1)	2						c.(454-456)TAT>TGT		arylformamidase isoform 1							120.0	111.0	114.0					17																	76200969		2203	4300	6503	SO:0001583	missense	125061					cytosol|nucleus	arylformamidase activity	g.chr17:76200969A>G	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.455A>G	17.37:g.76200969A>G	ENSP00000328938:p.Tyr152Cys					AFMID_uc002jvb.3_Intron|AFMID_uc002juz.3_Missense_Mutation_p.Y152C	p.Y152C	NM_001010982	NP_001010982	Q63HM1	AFMID_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)		6	470	+			152						Missense_Mutation	SNP	ENST00000327898.5	37	c.455A>G	CCDS45801.1	.	.	.	.	.	.	.	.	.	.	A	14.09	2.432124	0.43122	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T;T	0.11495	2.77;2.77	4.89	1.17	0.20885	Alpha/beta hydrolase fold-3 (1);	0.130042	0.53938	D	0.000053	T	0.30665	0.0772	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.977	T	0.01301	-1.1391	10	0.42905	T	0.14	-4.8483	8.863	0.35269	0.5604:0.0:0.0:0.4396	.	152;152	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	C	152	ENSP00000386890:Y152C;ENSP00000328938:Y152C	ENSP00000328938:Y152C	Y	+	2	0	AFMID	73712564	1.000000	0.71417	0.007000	0.13788	0.006000	0.05464	3.702000	0.54800	-0.015000	0.14150	0.533000	0.62120	TAT		0.557	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333203.1	XM_058889		11	26	0	0	0	0	11	26				
CEP131	22994	broad.mit.edu	37	17	79176070	79176070	+	Missense_Mutation	SNP	C	C	A	rs376964153		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:79176070C>A	ENST00000269392.4	-	7	1005	c.758G>T	c.(757-759)cGg>cTg	p.R253L	RP11-455O6.2_ENST00000571085.1_RNA|AZI1_ENST00000450824.2_Missense_Mutation_p.R253L|AZI1_ENST00000575907.1_Missense_Mutation_p.R253L|AZI1_ENST00000374782.3_Missense_Mutation_p.R253L|AZI1_ENST00000570482.2_5'UTR	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		253					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCTCCTTCCGCCTGGGCAA	0.652																																						uc002jzp.1		NA																	0				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						c.(757-759)CGG>CTG		5-azacytidine induced 1 isoform a							74.0	64.0	68.0					17																	79176070		2202	4300	6502	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79176070C>A																												ENST00000269392.4:c.758G>T	17.37:g.79176070C>A	ENSP00000269392:p.Arg253Leu					AZI1_uc002jzn.1_Missense_Mutation_p.R253L|AZI1_uc002jzo.1_Missense_Mutation_p.R253L|AZI1_uc010wum.1_Missense_Mutation_p.R253L	p.R253L	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		7	958	-	all_neural(118;0.0804)|Melanoma(429;0.242)		253					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.758G>T		.	.	.	.	.	.	.	.	.	.	C	25.3	4.628403	0.87560	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17854	2.27;2.26;2.25	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	M	0.63843	1.955	0.50813	D	0.999894	D;D;D;D	0.64830	0.971;0.971;0.994;0.994	P;P;P;P	0.56278	0.562;0.562;0.734;0.795	T	0.07986	-1.0744	10	0.72032	D	0.01	-41.7908	18.1537	0.89684	0.0:1.0:0.0:0.0	.	253;253;253;253	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	L	253	ENSP00000393583:R253L;ENSP00000363914:R253L;ENSP00000269392:R253L	ENSP00000269392:R253L	R	-	2	0	AZI1	76790665	0.338000	0.24775	0.417000	0.26559	0.019000	0.09904	3.464000	0.53057	2.605000	0.88082	0.655000	0.94253	CGG		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			16	48	1	0	1.15e-07	1.93e-07	16	48				
FN3K	64122	broad.mit.edu	37	17	80699208	80699208	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:80699208A>T	ENST00000300784.7	+	4	469	c.407A>T	c.(406-408)gAg>gTg	p.E136V		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	136					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GAGGGTGCTGAGCCTCAGTAT	0.552																																					Melanoma(10;391 597 14592 32548 32749)	uc010wvs.1		NA																	0					0						c.(406-408)GAG>GTG		fructosamine 3 kinase							108.0	79.0	89.0					17																	80699208		2203	4300	6503	SO:0001583	missense	64122				fructoselysine metabolic process		fructosamine-3-kinase activity	g.chr17:80699208A>T	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.407A>T	17.37:g.80699208A>T	ENSP00000300784:p.Glu136Val					FN3K_uc002kfw.1_Missense_Mutation_p.E91V	p.E136V	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		4	468	+	Breast(20;0.000523)|all_neural(118;0.0952)		136						Missense_Mutation	SNP	ENST00000300784.7	37	c.407A>T	CCDS11818.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.349646	0.24426	.	.	ENSG00000167363	ENST00000300784;ENST00000457624;ENST00000536165	T	0.48522	0.81	4.1	-0.726	0.11170	Protein kinase-like domain (1);	0.058818	0.64402	D	0.000003	T	0.38401	0.1039	L	0.40543	1.245	0.32619	N	0.523533	B;P	0.41188	0.254;0.741	B;P	0.48334	0.281;0.574	T	0.42430	-0.9452	9	.	.	.	-18.0641	3.6846	0.08323	0.5528:0.0:0.2893:0.1579	.	136;91	Q9H479;B3KNR9	FN3K_HUMAN;.	V	136;136;91	ENSP00000300784:E136V	.	E	+	2	0	FN3K	78292497	0.013000	0.17824	0.054000	0.19295	0.204000	0.24138	0.541000	0.23207	-0.171000	0.10797	0.477000	0.44152	GAG		0.552	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158		8	9	0	0	0	0	8	9				
TBCD	6904	broad.mit.edu	37	17	80885196	80885196	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:80885196C>T	ENST00000355528.4	+	29	2736	c.2606C>T	c.(2605-2607)aCc>aTc	p.T869I	TBCD_ENST00000539345.2_Missense_Mutation_p.T869I	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	869					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GACGTGGGCACCTGGTACGTA	0.572																																						uc002kfz.2		NA																	0					0						c.(2605-2607)ACC>ATC		beta-tubulin cofactor D							50.0	54.0	53.0					17																	80885196		2127	4234	6361	SO:0001583	missense	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80885196C>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.2606C>T	17.37:g.80885196C>T	ENSP00000347719:p.Thr869Ile					TBCD_uc002kfy.1_Missense_Mutation_p.T869I|TBCD_uc002kgb.1_Missense_Mutation_p.T194I|TBCD_uc002kgc.2_Missense_Mutation_p.T14I|TBCD_uc002kgd.2_5'Flank	p.T869I	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		29	2736	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	869					O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	ENST00000355528.4	37	c.2606C>T	CCDS45818.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627509	0.28978	.	.	ENSG00000141556	ENST00000355528;ENST00000334614	T	0.68479	-0.33	3.88	3.88	0.44766	Armadillo-like helical (1);Armadillo-type fold (1);	0.220156	0.37261	N	0.002166	T	0.46308	0.1386	N	0.14661	0.345	0.80722	D	1	B;B;B	0.28400	0.06;0.144;0.21	B;B;B	0.23716	0.047;0.048;0.043	T	0.41378	-0.9512	9	.	.	.	.	13.5579	0.61770	0.0:1.0:0.0:0.0	.	620;869;869	F8WC00;Q9BTW9;Q9BTW9-4	.;TBCD_HUMAN;.	I	869;620	ENSP00000347719:T869I	.	T	+	2	0	TBCD	78478485	0.860000	0.29831	0.162000	0.22713	0.014000	0.08584	2.725000	0.47294	2.052000	0.61016	0.498000	0.49722	ACC		0.572	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		6	15	0	0	0	0	6	15				
CETN1	1068	broad.mit.edu	37	18	580859	580859	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:580859C>T	ENST00000327228.3	+	1	493	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	151	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						CGAAGCTGATCGGGATGGGGA	0.547																																						uc002kko.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(451-453)CGG>TGG		centrin 1							88.0	86.0	87.0					18																	580859		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580859C>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.451C>T	18.37:g.580859C>T	ENSP00000319052:p.Arg151Trp						p.R151W	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	493	+			151			2 (Probable).|EF-hand 4.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.451C>T	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909853	0.33721	.	.	ENSG00000177143	ENST00000327228	T	0.80304	-1.36	5.2	3.4	0.38934	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);EF-hand-like domain (1);	0.139303	0.44688	D	0.000433	D	0.86628	0.5978	M	0.77406	2.37	0.58432	D	0.999999	D	0.69078	0.997	D	0.64776	0.929	D	0.85781	0.1361	10	0.59425	D	0.04	.	8.327	0.32162	0.1558:0.762:0.0:0.0822	.	151	Q12798	CETN1_HUMAN	W	151	ENSP00000319052:R151W	ENSP00000319052:R151W	R	+	1	2	CETN1	570859	0.010000	0.17322	0.018000	0.16275	0.012000	0.07955	0.092000	0.15066	0.875000	0.35847	-0.182000	0.12963	CGG		0.547	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		46	173	0	0	0	0	46	173				
TMEM200C	645369	broad.mit.edu	37	18	5891787	5891787	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:5891787C>T	ENST00000581347.2	-	3	921	c.276G>A	c.(274-276)gcG>gcA	p.A92A	RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Silent_p.A92A			A6NKL6	T200C_HUMAN	transmembrane protein 200C	92						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						GGCTGCTGCCCGCAGGCGGCA	0.672																																						uc002kmx.1		NA																	0					0						c.(274-276)GCG>GCA		transmembrane protein 200C							30.0	39.0	36.0					18																	5891787		1951	4134	6085	SO:0001819	synonymous_variant	645369					integral to membrane		g.chr18:5891787C>T		CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.276G>A	18.37:g.5891787C>T							p.A92A	NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN			1	317	-			92						Silent	SNP	ENST00000581347.2	37	c.276G>A	CCDS45825.1																																																																																				0.672	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441917.4	NM_001080209		12	131	0	0	0	0	12	131				
ARHGAP28	79822	broad.mit.edu	37	18	6876197	6876197	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:6876197C>A	ENST00000383472.4	+	10	1384	c.1280C>A	c.(1279-1281)gCt>gAt	p.A427D	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.A268D|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A375D|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A250D|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A268D|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A268D|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A427D|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A263D			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	427	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGATGTACTGCTAAAGTCAAG	0.388																																						uc010wzi.1		NA																	0				pancreas(1)	1						c.(748-750)GCT>GAT		SubName: Full=Putative uncharacterized protein ARHGAP28;							140.0	135.0	137.0					18																	6876197		2203	4300	6503	SO:0001583	missense	79822				signal transduction	intracellular		g.chr18:6876197C>A	BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1280C>A	18.37:g.6876197C>A	ENSP00000372964:p.Ala427Asp					ARHGAP28_uc002knc.2_Missense_Mutation_p.A375D|ARHGAP28_uc002knd.2_Missense_Mutation_p.A268D|ARHGAP28_uc002kne.2_Missense_Mutation_p.A268D|ARHGAP28_uc002knf.2_Missense_Mutation_p.A259D	p.A250D			B4DXL2	B4DXL2_HUMAN			9	987	+		Colorectal(10;0.168)	250					A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	ENST00000383472.4	37	c.749C>A		.	.	.	.	.	.	.	.	.	.	C	25.4	4.637934	0.87760	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	5.58	5.58	0.84498	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.279079	0.38720	N	0.001590	T	0.41073	0.1143	L	0.48877	1.53	0.44890	D	0.997905	D;D;D;P	0.67145	0.995;0.996;0.995;0.744	D;D;D;P	0.68483	0.945;0.958;0.93;0.492	T	0.07712	-1.0758	10	0.66056	D	0.02	.	18.124	0.89580	0.0:1.0:0.0:0.0	.	427;259;268;375	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	D	427;375;268;263;268;268;259;250	ENSP00000382963:A427D;ENSP00000262227:A375D;ENSP00000392660:A268D;ENSP00000437262:A263D;ENSP00000313506:A268D;ENSP00000406907:A268D	ENSP00000262227:A375D	A	+	2	0	ARHGAP28	6866197	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.746000	0.62133	2.797000	0.96272	0.561000	0.74099	GCT		0.388	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000442123.3	XM_371108		65	63	1	0	5.26e-25	1.1e-24	65	63				
LAMA1	284217	broad.mit.edu	37	18	7024446	7024446	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:7024446G>A	ENST00000389658.3	-	18	2515	c.2422C>T	c.(2422-2424)Ctc>Ttc	p.L808F		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	808	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCATCATTGAGGTGGCAGGTG	0.438																																						uc002knm.2		NA																	0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(2422-2424)CTC>TTC		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						56.0	48.0	51.0					18																	7024446		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7024446G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2422C>T	18.37:g.7024446G>A	ENSP00000374309:p.Leu808Phe					LAMA1_uc010wzj.1_Missense_Mutation_p.L284F	p.L808F	NM_005559	NP_005550	P25391	LAMA1_HUMAN			18	2516	-		Colorectal(10;0.172)	808			Laminin EGF-like 7.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2422C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800732	0.50315	.	.	ENSG00000101680	ENST00000389658	T	0.61510	0.1	6.01	1.69	0.24217	EGF-like, laminin (3);	0.000000	0.64402	D	0.000006	T	0.67543	0.2904	M	0.80183	2.485	0.41817	D	0.99	D	0.65815	0.995	D	0.68192	0.956	T	0.64106	-0.6485	10	0.42905	T	0.14	.	1.7742	0.03018	0.266:0.1662:0.4301:0.1378	.	808	P25391	LAMA1_HUMAN	F	808	ENSP00000374309:L808F	ENSP00000374309:L808F	L	-	1	0	LAMA1	7014446	0.734000	0.28142	0.917000	0.36280	0.609000	0.37215	0.327000	0.19663	0.411000	0.25702	0.643000	0.83706	CTC		0.438	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		8	73	0	0	0	0	8	73				
PTPRM	5797	broad.mit.edu	37	18	8379247	8379247	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:8379247G>T	ENST00000332175.8	+	26	4693	c.3656G>T	c.(3655-3657)tGc>tTc	p.C1219F	PTPRM_ENST00000580170.1_Missense_Mutation_p.C1232F|PTPRM_ENST00000400053.4_Missense_Mutation_p.C1157F|PTPRM_ENST00000400060.4_Missense_Mutation_p.C1233F|PTPRM_ENST00000444013.1_Missense_Mutation_p.C1006F	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1219	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAAAACCGGTGCATGGACATC	0.567																																						uc002knn.3		NA																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(3655-3657)TGC>TTC		protein tyrosine phosphatase, receptor type, M							140.0	109.0	120.0					18																	8379247		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8379247G>T	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.3656G>T	18.37:g.8379247G>T	ENSP00000331418:p.Cys1219Phe					PTPRM_uc010dkv.2_Missense_Mutation_p.C1232F|PTPRM_uc010wzl.1_Missense_Mutation_p.C1006F	p.C1219F	NM_002845	NP_002836	P28827	PTPRM_HUMAN			26	4159	+		Colorectal(10;0.234)	1219			Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.3656G>T	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436218	0.43224	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	6.17	6.17	0.99709	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	N	0.00056	-2.365	0.80722	D	1	B;B;D	0.67145	0.003;0.007;0.996	B;B;D	0.83275	0.01;0.012;0.996	T	0.69011	-0.5258	10	0.18276	T	0.48	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1006;1232;1219	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	F	1219;1233;1157;1006	ENSP00000331418:C1219F;ENSP00000382933:C1233F;ENSP00000382927:C1157F;ENSP00000387608:C1006F	ENSP00000331418:C1219F	C	+	2	0	PTPRM	8369247	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.718000	0.74713	2.941000	0.99782	0.655000	0.94253	TGC		0.567	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			35	153	1	0	1.08e-12	2e-12	35	153				
TXNDC2	84203	broad.mit.edu	37	18	9887082	9887082	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:9887082C>G	ENST00000306084.6	+	2	805	c.606C>G	c.(604-606)atC>atG	p.I202M	TXNDC2_ENST00000357775.5_Missense_Mutation_p.I135M|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	202	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGAAGCCATCCAGCCCAAAG	0.577																																						uc002koi.3		NA																	0				ovary(1)|pancreas(1)	2						c.(604-606)ATC>ATG		thioredoxin domain-containing 2 isoform 2							153.0	155.0	154.0					18																	9887082		2203	4300	6503	SO:0001583	missense	84203				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887082C>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.606C>G	18.37:g.9887082C>G	ENSP00000304908:p.Ile202Met					TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.I135M	p.I202M	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN			2	1055	+			202			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.606C>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	c	11.24	1.580337	0.28180	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16897	2.31;2.31	3.48	-0.695	0.11291	.	1.706840	0.03594	N	0.232327	T	0.26666	0.0652	L	0.39245	1.2	0.20821	N	0.999847	D	0.61697	0.99	P	0.61477	0.889	T	0.17715	-1.0360	9	.	.	.	.	4.5863	0.12284	0.0:0.503:0.1698:0.3272	.	202	Q86VQ3	TXND2_HUMAN	M	135;202;202	ENSP00000350419:I135M;ENSP00000304908:I202M	.	I	+	3	3	TXNDC2	9877082	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.278000	0.02809	-0.008000	0.14320	-0.281000	0.10026	ATC		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			55	534	0	0	0	0	55	534				
MC5R	4161	broad.mit.edu	37	18	13826509	13826509	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:13826509G>A	ENST00000324750.3	+	1	967	c.745G>A	c.(745-747)Gtg>Atg	p.V249M	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	249					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CGTGTTTACCGTGTGCTGGGC	0.587																																						uc010xaf.1		NA																	0				ovary(3)|lung(2)|breast(1)	6						c.(745-747)GTG>ATG		melanocortin 5 receptor							224.0	176.0	192.0					18																	13826509		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826509G>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.745G>A	18.37:g.13826509G>A	ENSP00000318077:p.Val249Met						p.V249M	NM_005913	NP_005904	P33032	MC5R_HUMAN			1	745	+			249			Helical; Name=6; (Potential).		B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.745G>A	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332665	0.41297	.	.	ENSG00000176136	ENST00000324750	T	0.44083	0.93	4.88	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.120410	0.56097	D	0.000036	T	0.63486	0.2515	M	0.82433	2.59	0.50813	D	0.999892	D	0.54207	0.965	P	0.60789	0.879	T	0.69752	-0.5060	10	0.87932	D	0	.	13.6548	0.62330	0.0:0.0:0.8443:0.1557	.	249	P33032	MC5R_HUMAN	M	249	ENSP00000318077:V249M	ENSP00000318077:V249M	V	+	1	0	MC5R	13816509	1.000000	0.71417	0.830000	0.32933	0.006000	0.05464	4.299000	0.59073	1.018000	0.39521	0.305000	0.20034	GTG		0.587	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		50	417	0	0	0	0	50	417				
ZNF519	162655	broad.mit.edu	37	18	14105881	14105881	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:14105881G>A	ENST00000590202.1	-	3	810	c.658C>T	c.(658-660)Cca>Tca	p.P220S	RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	220					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TTTGAGAATGGGTCAGAAGTT	0.299																																						uc002kst.1		NA																	0					0						c.(658-660)CCA>TCA		zinc finger protein 519							54.0	57.0	56.0					18																	14105881		2202	4287	6489	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105881G>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.658C>T	18.37:g.14105881G>A	ENSP00000464872:p.Pro220Ser					ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	p.P220S	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			3	811	-			220						Missense_Mutation	SNP	ENST00000590202.1	37	c.658C>T	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	G	0.286	-0.983272	0.02180	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08758	0.0217	N	0.00583	-1.355	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.28235	-1.0050	8	0.44086	T	0.13	.	7.2226	0.25997	1.0E-4:0.0:0.9999:0.0	.	220	Q8TB69	ZN519_HUMAN	S	220	.	ENSP00000307908:P220S	P	-	1	0	ZNF519	14095881	0.000000	0.05858	0.015000	0.15790	0.276000	0.26787	-2.232000	0.01205	0.661000	0.30985	0.089000	0.15464	CCA		0.299	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		15	167	0	0	0	0	15	167				
ANKRD30B	374860	broad.mit.edu	37	18	14822494	14822494	+	Intron	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:14822494A>T	ENST00000358984.4	+	26	2493				RP11-1157N2__B.2_ENST00000581117.1_RNA	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B											breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TCTCCTGATAAAGATGGTCTT	0.274																																						uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(2296-2298)AAA>ATA		ankyrin repeat domain 30B							63.0	52.0	56.0					18																	14822494		692	1590	2282	SO:0001627	intron_variant	374860							g.chr18:14822494A>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2314-110A>T	18.37:g.14822494A>T							p.K766I	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			25	2477	+			851					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.2297A>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	a	0.330	-0.956850	0.02267	.	.	ENSG00000180777	ENST00000320584;ENST00000277669	.	.	.	0.958	-1.92	0.07618	.	.	.	.	.	T	0.48660	0.1512	.	.	.	0.09310	N	1	D	0.54397	0.966	P	0.58721	0.844	T	0.42155	-0.9468	7	0.87932	D	0	.	3.9923	0.09543	0.4003:0.0:0.0:0.5997	.	766	F8WAG3	.	I	160;186	.	ENSP00000277669:K186I	K	+	2	0	ANKRD30B	14812494	0.001000	0.12720	0.000000	0.03702	0.005000	0.04900	-0.005000	0.12855	-0.855000	0.04125	-1.133000	0.01973	AAA		0.274	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		7	65	0	0	0	0	7	65				
ROCK1	6093	broad.mit.edu	37	18	18572799	18572799	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:18572799G>A	ENST00000399799.2	-	17	2925	c.1985C>T	c.(1984-1986)tCa>tTa	p.S662L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	662	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TACCTTTTCTGAGTGATTAAG	0.303																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(1984-1986)TCA>TTA		Rho-associated, coiled-coil containing protein							105.0	95.0	99.0					18																	18572799		2202	4298	6500	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18572799G>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1985C>T	18.37:g.18572799G>A	ENSP00000382697:p.Ser662Leu						p.S662L	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			17	2926	-	Melanoma(1;0.165)		662			Glu-rich.|Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.1985C>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	G	6.780	0.512837	0.12944	.	.	ENSG00000067900	ENST00000399799	T	0.62498	0.02	5.65	5.65	0.86999	.	0.237949	0.36740	N	0.002432	T	0.28433	0.0703	N	0.00459	-1.475	0.42278	D	0.992083	B	0.02656	0.0	B	0.04013	0.001	T	0.50118	-0.8865	10	0.02654	T	1	.	19.7284	0.96174	0.0:0.0:1.0:0.0	.	662	Q13464	ROCK1_HUMAN	L	662	ENSP00000382697:S662L	ENSP00000382697:S662L	S	-	2	0	ROCK1	16826797	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.515000	0.60489	2.668000	0.90789	0.591000	0.81541	TCA		0.303	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		20	20	0	0	0	0	20	20				
ASXL3	80816	broad.mit.edu	37	18	31323688	31323688	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:31323688C>A	ENST00000269197.5	+	12	3876	c.3876C>A	c.(3874-3876)tgC>tgA	p.C1292*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1292	Ser-rich.				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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACACTCCATGCATAGCCATTA	0.393																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3874-3876)TGC>TGA		additional sex combs like 3							95.0	92.0	93.0					18																	31323688		1927	4139	6066	SO:0001587	stop_gained	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31323688C>A	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.3876C>A	18.37:g.31323688C>A	ENSP00000269197:p.Cys1292*					ASXL3_uc002kxq.2_Nonsense_Mutation_p.C999*	p.C1292*	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	3931	+			1292			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	ENST00000269197.5	37	c.3876C>A	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	40	7.964196	0.98585	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.92	2.79	0.32731	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	9.9813	0.41815	0.0:0.6548:0.0:0.3452	.	.	.	.	X	1292	.	ENSP00000269197:C1292X	C	+	3	2	ASXL3	29577686	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.954000	0.29175	0.861000	0.35504	-0.123000	0.14984	TGC		0.393	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			68	53	1	0	1.72e-30	3.62e-30	68	53				
SLC14A2	8170	broad.mit.edu	37	18	43253684	43253684	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:43253684T>A	ENST00000255226.6	+	18	3230	c.2414T>A	c.(2413-2415)tTc>tAc	p.F805Y	SLC14A2_ENST00000586448.1_Missense_Mutation_p.F805Y|SLC14A2_ENST00000589658.1_Missense_Mutation_p.F282Y|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	805					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCATCTACTTCGGCCTGTGT	0.587																																						uc010dnj.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2413-2415)TTC>TAC		solute carrier family 14 (urea transporter),							136.0	99.0	111.0					18																	43253684		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43253684T>A	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2414T>A	18.37:g.43253684T>A	ENSP00000255226:p.Phe805Tyr					SLC14A2_uc002lbe.2_Missense_Mutation_p.F805Y	p.F805Y	NM_007163	NP_009094	Q15849	UT2_HUMAN			19	2735	+			805			Helical; (Potential).		A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2414T>A	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	T	8.326	0.825487	0.16749	.	.	ENSG00000132874	ENST00000255226	T	0.49720	0.77	5.75	4.59	0.56863	.	0.196330	0.36374	N	0.002633	T	0.37265	0.0997	L	0.58669	1.825	0.80722	D	1	B	0.16802	0.019	B	0.23018	0.043	T	0.19192	-1.0313	10	0.02654	T	1	-13.0821	7.8483	0.29440	0.0:0.203:0.0:0.797	.	805	Q15849	UT2_HUMAN	Y	805	ENSP00000255226:F805Y	ENSP00000255226:F805Y	F	+	2	0	SLC14A2	41507682	0.076000	0.21285	0.992000	0.48379	0.931000	0.56810	0.603000	0.24149	1.003000	0.39130	0.459000	0.35465	TTC		0.587	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1			41	32	0	0	0	0	41	32				
TCEB3B	51224	broad.mit.edu	37	18	44560992	44560992	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:44560992G>T	ENST00000332567.4	-	1	996	c.644C>A	c.(643-645)cCc>cAc	p.P215H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	215					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTCCCCTGGGGTTGGCCCTG	0.662																																						uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(643-645)CCC>CAC		elongin A2							29.0	31.0	30.0					18																	44560992		2202	4299	6501	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560992G>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.644C>A	18.37:g.44560992G>T	ENSP00000331302:p.Pro215His					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.P215H	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	997	-			215					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.644C>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.532121	0.27387	.	.	ENSG00000206181	ENST00000332567	T	0.08193	3.12	2.09	2.09	0.27110	.	0.577250	0.14328	U	0.326541	T	0.10508	0.0257	L	0.47716	1.5	0.09310	N	1	P	0.49447	0.924	P	0.46975	0.533	T	0.13469	-1.0508	10	0.59425	D	0.04	-11.1113	7.7336	0.28802	0.0:0.0:1.0:0.0	.	215	Q8IYF1	ELOA2_HUMAN	H	215	ENSP00000331302:P215H	ENSP00000331302:P215H	P	-	2	0	TCEB3B	42814990	0.005000	0.15991	0.003000	0.11579	0.008000	0.06430	0.570000	0.23653	1.506000	0.48736	0.462000	0.41574	CCC		0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		22	9	1	0	2.01e-23	4.16e-23	22	9				
ME2	4200	broad.mit.edu	37	18	48439273	48439273	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:48439273G>T	ENST00000321341.5	+	4	617	c.345G>T	c.(343-345)acG>acT	p.T115T	ME2_ENST00000382927.3_Silent_p.T115T	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	115					malate metabolic process (GO:0006108)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)		ATACACCGACGGTTGGTCTTG	0.323																																						uc002ley.2		NA																	0					0						c.(343-345)ACG>ACT		malic enzyme 2, NAD(+)-dependent, mitochondrial	NADH(DB00157)						140.0	140.0	140.0					18																	48439273		2203	4300	6503	SO:0001819	synonymous_variant	4200				malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding	g.chr18:48439273G>T	M55905	CCDS11948.1, CCDS54187.1	18q21	2012-10-02			ENSG00000082212	ENSG00000082212	1.1.1.40		6984	protein-coding gene	gene with protein product		154270				1993674	Standard	NM_002396		Approved		uc002ley.3	P23368	OTTHUMG00000132694	ENST00000321341.5:c.345G>T	18.37:g.48439273G>T						ME2_uc010dpd.2_Silent_p.T115T	p.T115T	NM_002396	NP_002387	P23368	MAOM_HUMAN		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	4	601	+		Colorectal(6;0.0273)|all_epithelial(6;0.118)	115					B2R8J2|Q9BWL6|Q9BYG1|Q9H4B2	Silent	SNP	ENST00000321341.5	37	c.345G>T	CCDS11948.1																																																																																				0.323	ME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255991.1	NM_002396		66	54	1	0	1.18e-34	2.5e-34	66	54				
DCC	1630	broad.mit.edu	37	18	51013297	51013297	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:51013297G>T	ENST00000442544.2	+	26	4483	c.3867G>T	c.(3865-3867)gtG>gtT	p.V1289V	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Silent_p.V924V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1289					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CACTCTCAGTGGACCGAGGTT	0.473																																						uc002lfe.1		NA																	0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(3865-3867)GTG>GTT		netrin receptor DCC precursor							114.0	103.0	107.0					18																	51013297		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51013297G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3867G>T	18.37:g.51013297G>T						DCC_uc010dpf.1_Silent_p.V924V	p.V1289V	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	26	4454	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1289			Cytoplasmic (Potential).			Silent	SNP	ENST00000442544.2	37	c.3867G>T	CCDS11952.1																																																																																				0.473	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		42	35	1	0	2.27e-22	4.66e-22	42	35				
CDH20	28316	broad.mit.edu	37	18	59203814	59203814	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:59203814C>T	ENST00000262717.4	+	8	1758	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	CDH20_ENST00000538374.1_Missense_Mutation_p.R454W|CDH20_ENST00000536675.2_Missense_Mutation_p.R454W			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	454	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCCCTAGACCGGGAAGAATT	0.408																																						uc010dps.1		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(1360-1362)CGG>TGG		cadherin 20, type 2 preproprotein							136.0	134.0	135.0					18																	59203814		2203	4300	6503	SO:0001583	missense	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59203814C>T	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1360C>T	18.37:g.59203814C>T	ENSP00000262717:p.Arg454Trp					CDH20_uc002lif.2_Missense_Mutation_p.R448W	p.R454W	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			7	1372	+		Colorectal(73;0.186)	454			Cadherin 4.|Extracellular (Potential).		Q495S3	Missense_Mutation	SNP	ENST00000262717.4	37	c.1360C>T	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.455354	0.63401	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.60299	0.2;0.2;0.2	5.22	2.23	0.28157	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82342	0.5016	H	0.96970	3.915	0.52099	D	0.999949	D	0.76494	0.999	D	0.72625	0.978	D	0.86567	0.1845	10	0.87932	D	0	.	13.8405	0.63435	0.5467:0.4533:0.0:0.0	.	454	Q9HBT6	CAD20_HUMAN	W	454	ENSP00000444767:R454W;ENSP00000442226:R454W;ENSP00000262717:R454W	ENSP00000262717:R454W	R	+	1	2	CDH20	57354794	0.998000	0.40836	0.584000	0.28653	0.979000	0.70002	0.842000	0.27627	0.207000	0.20607	0.542000	0.68232	CGG		0.408	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		52	55	0	0	0	0	52	55				
CD226	10666	broad.mit.edu	37	18	67562961	67562961	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:67562961C>A	ENST00000280200.4	-	4	971	c.703G>T	c.(703-705)Gtg>Ttg	p.V235L	CD226_ENST00000577287.1_Missense_Mutation_p.V80L|CD226_ENST00000581982.1_Missense_Mutation_p.V80L|CD226_ENST00000582621.1_Missense_Mutation_p.V235L	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	235	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)|cytokine production (GO:0001816)|positive regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060369)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|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)|signal transduction (GO:0007165)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AATCTCATCACGAAGGTTTCG	0.532																																					NSCLC(184;838 2130 8673 21498 50749)	uc010dqo.2		NA																	0					0						c.(703-705)GTG>TTG		CD226 molecule precursor							139.0	143.0	142.0					18																	67562961		2203	4300	6503	SO:0001583	missense	10666				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	g.chr18:67562961C>A	U56102	CCDS11997.1	18q22.3	2013-01-11	2006-03-28		ENSG00000150637	ENSG00000150637		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	16961	protein-coding gene	gene with protein product		605397	"""CD226 antigen"""			8673704	Standard	NM_006566		Approved	DNAM-1, DNAM1, PTA1, TLiSA1	uc002lkm.4	Q15762	OTTHUMG00000132809	ENST00000280200.4:c.703G>T	18.37:g.67562961C>A	ENSP00000280200:p.Val235Leu					CD226_uc002lkm.3_Missense_Mutation_p.V235L	p.V235L	NM_006566	NP_006557	Q15762	CD226_HUMAN			3	1150	-		Esophageal squamous(42;0.129)	235			Ig-like C2-type 2.|Extracellular (Potential).		B2R818	Missense_Mutation	SNP	ENST00000280200.4	37	c.703G>T	CCDS11997.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845614	0.32606	.	.	ENSG00000150637	ENST00000280200	T	0.11821	2.74	4.82	2.98	0.34508	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220159	0.37348	N	0.002139	T	0.15305	0.0369	M	0.69823	2.125	0.09310	N	1	B	0.26902	0.163	B	0.27887	0.084	T	0.16897	-1.0387	10	0.51188	T	0.08	.	6.4927	0.22125	0.0:0.7182:0.1838:0.0981	.	235	Q15762	CD226_HUMAN	L	235	ENSP00000280200:V235L	ENSP00000280200:V235L	V	-	1	0	CD226	65713941	0.001000	0.12720	0.006000	0.13384	0.013000	0.08279	0.452000	0.21795	0.709000	0.31976	0.650000	0.86243	GTG		0.532	CD226-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256226.3	NM_006566		84	72	1	0	1.29e-55	2.76e-55	84	72				
NETO1	81832	broad.mit.edu	37	18	70417315	70417315	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:70417315T>A	ENST00000327305.6	-	9	2180	c.1523A>T	c.(1522-1524)cAc>cTc	p.H508L	NETO1_ENST00000299430.2_Missense_Mutation_p.H507L|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.H508L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	508					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GGCTTTATCGTGTCTGGACAG	0.438																																						uc002lkw.2		NA																	0				ovary(2)|skin(2)	4						c.(1522-1524)CAC>CTC		neuropilin- and tolloid-like protein 1 isoform 3							94.0	82.0	86.0					18																	70417315		2203	4300	6503	SO:0001583	missense	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70417315T>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1523A>T	18.37:g.70417315T>A	ENSP00000313088:p.His508Leu					NETO1_uc002lkx.1_Missense_Mutation_p.H507L|NETO1_uc002lky.1_Missense_Mutation_p.H508L	p.H508L	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	9	1807	-		Esophageal squamous(42;0.129)	508			Cytoplasmic (Potential).		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	ENST00000327305.6	37	c.1523A>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278599	0.80692	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.21734	1.99;2.0	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000006	T	0.42086	0.1187	L	0.51422	1.61	0.80722	D	1	D;D	0.69078	0.997;0.995	D;D	0.78314	0.991;0.979	T	0.22452	-1.0216	10	0.66056	D	0.02	-18.6429	16.0791	0.80989	0.0:0.0:0.0:1.0	.	507;508	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	L	508;507	ENSP00000313088:H508L;ENSP00000299430:H507L	ENSP00000299430:H507L	H	-	2	0	NETO1	68568295	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.662000	0.83803	2.200000	0.70718	0.377000	0.23210	CAC		0.438	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		26	25	0	0	0	0	26	25				
CDC34	997	broad.mit.edu	37	19	541375	541375	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:541375T>C	ENST00000215574.4	+	5	752	c.534T>C	c.(532-534)cgT>cgC	p.R178R	GZMM_ENST00000264553.3_5'Flank	NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	178					cellular protein modification process (GO:0006464)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of neuron apoptotic process (GO:0043525)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|response to growth factor (GO:0070848)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)		ACGCGGAGCGTGACGGCGTGA	0.706																																						uc002lov.2		NA																	0					0						c.(532-534)CGT>CGC		ubiquitin-conjugating enzyme Cdc34							25.0	27.0	26.0					19																	541375		2196	4297	6493	SO:0001819	synonymous_variant	997				DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr19:541375T>C	L22005	CCDS12030.1	19p13.3	2013-01-17	2013-01-17					"""Ubiquitin-conjugating enzymes E2"""	1734	protein-coding gene	gene with protein product		116948	"""cell division cycle 34"", ""cell division cycle 34 homolog (S. cerevisiae)"""			8248134, 16210246	Standard	NM_004359		Approved	E2-CDC34, UBE2R1, UBC3	uc002lov.3	P49427		ENST00000215574.4:c.534T>C	19.37:g.541375T>C						GZMM_uc002low.1_5'Flank	p.R178R	NM_004359	NP_004350	P49427	UB2R1_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)	5	733	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|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)	178					A8K689	Silent	SNP	ENST00000215574.4	37	c.534T>C	CCDS12030.1																																																																																				0.706	CDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451889.2	NM_004359		6	11	0	0	0	0	6	11				
PALM	5064	broad.mit.edu	37	19	746513	746513	+	Missense_Mutation	SNP	C	C	A	rs552444013		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:746513C>A	ENST00000338448.5	+	9	909	c.863C>A	c.(862-864)cCg>cAg	p.P288Q	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.P244Q	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	288					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		TCCGGCCCGCCGGGGATCCAG	0.697																																						uc002lpm.1		NA																	0					0						c.(862-864)CCG>CAG		paralemmin isoform 1							21.0	22.0	22.0					19																	746513		2197	4292	6489	SO:0001583	missense	5064				cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane		g.chr19:746513C>A	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.863C>A	19.37:g.746513C>A	ENSP00000341911:p.Pro288Gln					PALM_uc002lpn.1_Missense_Mutation_p.P244Q|PALM_uc010xfu.1_Missense_Mutation_p.P153Q	p.P288Q	NM_002579	NP_002570	O75781	PALM_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)|Lung(535;0.201)	9	1057	+		all_epithelial(18;2.19e-21)|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)	288					O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	c.863C>A	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004855	0.54254	.	.	ENSG00000099864	ENST00000338448;ENST00000264560;ENST00000538247	T;T	0.18338	2.22;2.22	4.03	4.03	0.46877	.	0.502303	0.18186	N	0.148961	T	0.33990	0.0882	M	0.73962	2.25	0.09310	N	1	D;D	0.58620	0.978;0.983	P;P	0.55391	0.659;0.775	T	0.09997	-1.0649	10	0.62326	D	0.03	-25.9007	12.3704	0.55252	0.0:1.0:0.0:0.0	.	244;288	O75781-2;O75781	.;PALM_HUMAN	Q	288;244;153	ENSP00000341911:P288Q;ENSP00000264560:P244Q	ENSP00000264560:P244Q	P	+	2	0	PALM	697513	0.647000	0.27304	0.019000	0.16419	0.703000	0.40648	1.844000	0.39269	2.185000	0.69588	0.462000	0.41574	CCG		0.697	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579		10	40	1	0	3.86e-05	6e-05	10	40				
DIRAS1	148252	broad.mit.edu	37	19	2717513	2717513	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:2717513C>T	ENST00000323469.4	-	2	475	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	DIRAS1_ENST00000585334.1_Missense_Mutation_p.G98R	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	98					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TAGATGGGCCCCAGCTCCTCC	0.627																																						uc002lwf.3		NA																	0				ovary(1)	1						c.(292-294)GGG>AGG		DIRAS family, GTP-binding RAS-like 1							45.0	40.0	41.0					19																	2717513		2203	4297	6500	SO:0001583	missense	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717513C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.292G>A	19.37:g.2717513C>T	ENSP00000325836:p.Gly98Arg						p.G98R	NM_145173	NP_660156	O95057	DIRA1_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	450	-			98						Missense_Mutation	SNP	ENST00000323469.4	37	c.292G>A	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201331	0.22121	.	.	ENSG00000176490	ENST00000323469	T	0.75477	-0.94	4.07	-0.695	0.11291	Small GTP-binding protein domain (1);	0.169303	0.49305	D	0.000145	T	0.42017	0.1184	N	0.04245	-0.25	0.26922	N	0.966667	B	0.02656	0.0	B	0.06405	0.002	T	0.17745	-1.0359	10	0.20519	T	0.43	.	3.7079	0.08408	0.0:0.3451:0.3048:0.35	.	98	O95057	DIRA1_HUMAN	R	98	ENSP00000325836:G98R	ENSP00000325836:G98R	G	-	1	0	DIRAS1	2668513	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	1.026000	0.30103	0.692000	0.31613	0.549000	0.68633	GGG		0.627	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			17	26	0	0	0	0	17	26				
TLE2	7089	broad.mit.edu	37	19	3015720	3015720	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:3015720C>G	ENST00000262953.6	-	9	871	c.609G>C	c.(607-609)gaG>gaC	p.E203D	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.E204D|TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000591529.1_Missense_Mutation_p.E217D|TLE2_ENST00000443826.3_Missense_Mutation_p.E81D|TLE2_ENST00000426948.2_Missense_Mutation_p.E217D|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Missense_Mutation_p.E81D	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	203	CCN domain.				negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TCGGTCGCTCCTCCTCCACGA	0.632																																						uc002lww.2		NA																	0					0						c.(607-609)GAG>GAC		transducin-like enhancer protein 2 isoform 1							35.0	39.0	38.0					19																	3015720		2083	4204	6287	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3015720C>G	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.609G>C	19.37:g.3015720C>G	ENSP00000262953:p.Glu203Asp					TLE2_uc010xhb.1_5'UTR|TLE2_uc010dth.2_Missense_Mutation_p.E204D|TLE2_uc010xhc.1_Missense_Mutation_p.E81D|TLE2_uc010dti.2_Missense_Mutation_p.E217D|TLE2_uc010xhd.1_Missense_Mutation_p.E111D	p.E203D	NM_003260	NP_003251	Q04725	TLE2_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	872	-			203			CCN domain.		B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.609G>C	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	2.082	-0.410462	0.04799	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000450017;ENST00000443826;ENST00000426948;ENST00000439015	T;T;T;T	0.55413	0.68;0.52;0.52;0.92	4.56	-0.2	0.13216	.	1.689850	0.03320	N	0.191826	T	0.45677	0.1354	L	0.59436	1.845	0.27938	N	0.937632	B;B;B;B;B	0.28470	0.001;0.001;0.213;0.001;0.001	B;B;B;B;B	0.27076	0.003;0.001;0.076;0.001;0.001	T	0.14980	-1.0453	10	0.15066	T	0.55	-3.9812	5.4962	0.16804	0.0:0.5274:0.1405:0.3321	.	111;81;217;81;203	B4DZU9;E9PEV7;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	D	203;81;197;81;217;111	ENSP00000262953:E203D;ENSP00000413107:E81D;ENSP00000392427:E81D;ENSP00000392869:E217D	ENSP00000262953:E203D	E	-	3	2	TLE2	2966720	0.940000	0.31905	0.757000	0.31301	0.503000	0.33858	0.157000	0.16402	0.126000	0.18424	-0.350000	0.07774	GAG		0.632	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260		8	12	0	0	0	0	8	12				
PIP5K1C	23396	broad.mit.edu	37	19	3653452	3653452	+	Missense_Mutation	SNP	C	C	G	rs121908315		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:3653452C>G	ENST00000335312.3	-	7	845	c.757G>C	c.(757-759)Gac>Cac	p.D253H	PIP5K1C_ENST00000537021.1_Missense_Mutation_p.D253H|PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.D253H|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.D253H	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	253	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.		D -> N (in LCCS3; loss of activity). {ECO:0000269|PubMed:17701898}.		actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCTTGAGGTCGAACTTGAGG	0.587																																					Esophageal Squamous(135;99 1744 12852 27186 39851)	uc002lyj.1		NA																	0				stomach(2)|skin(2)	4	GRCh37	CM073263	PIP5K1C	M	rs121908315	c.(757-759)GAC>CAC		phosphatidylinositol-4-phosphate 5-kinase, type							135.0	94.0	108.0					19																	3653452		2203	4300	6503	SO:0001583	missense	23396				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	g.chr19:3653452C>G	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.757G>C	19.37:g.3653452C>G	ENSP00000335333:p.Asp253His					PIP5K1C_uc010xhq.1_Missense_Mutation_p.D253H|PIP5K1C_uc010xhr.1_Missense_Mutation_p.D253H	p.D253H	NM_012398	NP_036530	O60331	PI51C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)	7	814	-		Hepatocellular(1079;0.137)	253		D -> N (in LCCS3; loss of activity).	PIPK.		B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	c.757G>C	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245620	0.59103	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.65364	-0.15;-0.15;-0.15	4.57	4.57	0.56435	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.88377	0.6420	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93772	0.7076	10	0.87932	D	0	-39.1893	16.3211	0.82951	0.0:1.0:0.0:0.0	.	253;253	O60331-3;O60331	.;PI51C_HUMAN	H	253	ENSP00000335333:D253H;ENSP00000445992:D253H;ENSP00000444779:D253H	ENSP00000335333:D253H	D	-	1	0	PIP5K1C	3604452	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	7.632000	0.83247	2.075000	0.62263	0.491000	0.48974	GAC		0.587	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398		21	61	0	0	0	0	21	61				
ZBTB7A	51341	broad.mit.edu	37	19	4054160	4054160	+	Missense_Mutation	SNP	G	G	T	rs199813924	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:4054160G>T	ENST00000322357.4	-	2	1349	c.1071C>A	c.(1069-1071)agC>agA	p.S357R	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.S357R	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	357					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGGCGCCGCTGAAGTACT	0.667																																						uc002lzh.2		NA																	0				pancreas(1)|skin(1)	2						c.(1069-1071)AGC>AGA		zinc finger and BTB domain containing 7A							46.0	47.0	47.0					19																	4054160		2203	4300	6503	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054160G>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1071C>A	19.37:g.4054160G>T	ENSP00000323670:p.Ser357Arg					ZBTB7A_uc002lzi.2_Missense_Mutation_p.S357R	p.S357R	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1146	-		Hepatocellular(1079;0.137)	357					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1071C>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279413	0.40294	.	.	ENSG00000178951	ENST00000322357	T	0.12672	2.66	5.03	1.07	0.20283	.	0.000000	0.85682	D	0.000000	T	0.26919	0.0659	L	0.58101	1.795	0.38852	D	0.956293	D	0.71674	0.998	D	0.63597	0.916	T	0.04796	-1.0926	10	0.56958	D	0.05	.	11.0559	0.47918	0.259:0.0:0.741:0.0	.	357	O95365	ZBT7A_HUMAN	R	357	ENSP00000323670:S357R	ENSP00000323670:S357R	S	-	3	2	ZBTB7A	4005160	0.991000	0.36638	0.997000	0.53966	0.996000	0.88848	1.658000	0.37376	0.498000	0.27948	0.462000	0.41574	AGC		0.667	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		20	44	1	0	7.42e-09	1.28e-08	20	44				
ZBTB7A	51341	broad.mit.edu	37	19	4054266	4054266	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:4054266T>A	ENST00000322357.4	-	2	1243	c.965A>T	c.(964-966)cAg>cTg	p.Q322L	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.Q322L	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	322					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACATCATCTGCTGCAGCAG	0.731																																						uc002lzh.2		NA																	0				pancreas(1)|skin(1)	2						c.(964-966)CAG>CTG		zinc finger and BTB domain containing 7A							5.0	7.0	6.0					19																	4054266		2021	3831	5852	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054266T>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.965A>T	19.37:g.4054266T>A	ENSP00000323670:p.Gln322Leu					ZBTB7A_uc002lzi.2_Missense_Mutation_p.Q322L	p.Q322L	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1040	-		Hepatocellular(1079;0.137)	322					D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.965A>T	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892840	0.52121	.	.	ENSG00000178951	ENST00000322357	T	0.12984	2.63	4.8	4.8	0.61643	.	0.262025	0.31542	N	0.007465	T	0.11452	0.0279	L	0.27053	0.805	0.45015	D	0.998037	P	0.34522	0.455	B	0.34346	0.18	T	0.08617	-1.0713	10	0.66056	D	0.02	.	13.1625	0.59552	0.0:0.0:0.0:1.0	.	322	O95365	ZBT7A_HUMAN	L	322	ENSP00000323670:Q322L	ENSP00000323670:Q322L	Q	-	2	0	ZBTB7A	4005266	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.864000	0.62990	1.793000	0.52555	0.374000	0.22700	CAG		0.731	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		4	15	0	0	0	0	4	15				
ARRDC5	645432	broad.mit.edu	37	19	4891178	4891178	+	Missense_Mutation	SNP	C	C	A	rs529524038		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:4891178C>A	ENST00000381781.2	-	3	908	c.909G>T	c.(907-909)tgG>tgT	p.W303C	AC027319.1_ENST00000408608.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	303										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGGTCAGGGACCAGGGCAGGT	0.607																																						uc002mbm.2		NA																	0					0						c.(907-909)TGG>TGT		arrestin domain containing 5							134.0	140.0	138.0					19																	4891178		2167	4253	6420	SO:0001583	missense	645432				signal transduction			g.chr19:4891178C>A		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.909G>T	19.37:g.4891178C>A	ENSP00000371200:p.Trp303Cys						p.W303C	NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	3	909	-			303						Missense_Mutation	SNP	ENST00000381781.2	37	c.909G>T	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156951	0.57259	.	.	ENSG00000205784	ENST00000381781	T	0.15952	2.38	4.91	4.91	0.64330	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.44285	D	0.000473	T	0.30262	0.0759	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01360	-1.1375	10	0.45353	T	0.12	-22.2313	15.8571	0.78987	0.0:1.0:0.0:0.0	.	303	A6NEK1	ARRD5_HUMAN	C	303	ENSP00000371200:W303C	ENSP00000371200:W303C	W	-	3	0	ARRDC5	4842178	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	2.377000	0.44300	2.663000	0.90544	0.650000	0.86243	TGG		0.607	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		52	132	1	0	2.3e-20	4.68e-20	52	132				
KDM4B	23030	broad.mit.edu	37	19	5082396	5082396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:5082396G>T	ENST00000159111.4	+	9	1017	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	KDM4B_ENST00000536461.1_Nonsense_Mutation_p.E267*|KDM4B_ENST00000381759.4_Nonsense_Mutation_p.E267*|KDM4B_ENST00000592175.1_3'UTR	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	267	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGAGGCCGGGGAATTCATGAT	0.597																																						uc002mbq.3		NA																	0				lung(1)	1						c.(799-801)GAA>TAA		jumonji domain containing 2B							76.0	59.0	64.0					19																	5082396		2202	4300	6502	SO:0001587	stop_gained	23030				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr19:5082396G>T	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.799G>T	19.37:g.5082396G>T	ENSP00000159111:p.Glu267*					KDM4B_uc010xil.1_Nonsense_Mutation_p.E267*|KDM4B_uc010xim.1_Nonsense_Mutation_p.E267*|KDM4B_uc002mbr.3_Nonsense_Mutation_p.E25*	p.E267*	NM_015015	NP_055830	O94953	KDM4B_HUMAN			9	1025	+			267			JmjC.		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Nonsense_Mutation	SNP	ENST00000159111.4	37	c.799G>T	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615097	0.87359	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-32.6123	18.1627	0.89714	0.0:0.0:1.0:0.0	.	.	.	.	X	267	.	ENSP00000159111:E267X	E	+	1	0	KDM4B	5033396	1.000000	0.71417	0.993000	0.49108	0.010000	0.07245	9.808000	0.99193	2.304000	0.77564	0.462000	0.41574	GAA		0.597	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015		11	23	1	0	9.7e-10	1.72e-09	11	23				
C3	718	broad.mit.edu	37	19	6686804	6686804	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:6686804C>G	ENST00000245907.6	-	28	3691	c.3599G>C	c.(3598-3600)gGc>gCc	p.G1200A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1200					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTCAGCCTGCCCATCTGGGC	0.542																																						uc002mfm.2		NA																	0				skin(3)|ovary(1)|pancreas(1)	5						c.(3598-3600)GGC>GCC		complement component 3 precursor							159.0	150.0	153.0					19																	6686804		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6686804C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3599G>C	19.37:g.6686804C>G	ENSP00000245907:p.Gly1200Ala					C3_uc002mfl.2_5'UTR	p.G1200A	NM_000064	NP_000055	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	28	3661	-			1200					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.3599G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	c	13.36	2.213496	0.39102	.	.	ENSG00000125730	ENST00000245907	T	0.49720	0.77	6.06	-6.36	0.01969	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.855375	0.10550	N	0.661566	T	0.55689	0.1936	M	0.91249	3.19	0.09310	N	1	P	0.40083	0.702	B	0.41723	0.365	T	0.58907	-0.7553	10	0.35671	T	0.21	.	15.9113	0.79475	0.0:0.6181:0.0:0.3819	.	1200	P01024	CO3_HUMAN	A	1200	ENSP00000245907:G1200A	ENSP00000245907:G1200A	G	-	2	0	C3	6637804	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.987000	0.03743	-0.962000	0.03604	-2.070000	0.00385	GGC		0.542	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		71	163	0	0	0	0	71	163				
TIMM44	10469	broad.mit.edu	37	19	7999066	7999066	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:7999066C>A	ENST00000270538.3	-	5	719	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	151					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TTGGCTGCTTCCTCCACGCCC	0.622																																						uc002miz.2		NA																	0				ovary(1)	1						c.(451-453)GAA>TAA		translocase of inner mitochondrial membrane 44							86.0	92.0	90.0					19																	7999066		2203	4300	6503	SO:0001587	stop_gained	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7999066C>A	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.451G>T	19.37:g.7999066C>A	ENSP00000270538:p.Glu151*					TIMM44_uc002mja.2_5'UTR|TIMM44_uc010dvx.1_RNA	p.E151*	NM_006351	NP_006342	O43615	TIM44_HUMAN			5	453	-			151					A8K0R9|D6W664|Q8N193	Nonsense_Mutation	SNP	ENST00000270538.3	37	c.451G>T	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223738	0.79576	.	.	ENSG00000104980	ENST00000270538	.	.	.	5.52	4.48	0.54585	.	0.086812	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-19.1517	12.6231	0.56614	0.0:0.9169:0.0:0.0831	.	.	.	.	X	151	.	ENSP00000270538:E151X	E	-	1	0	TIMM44	7905066	1.000000	0.71417	0.380000	0.26093	0.015000	0.08874	5.531000	0.67148	2.606000	0.88127	0.561000	0.74099	GAA		0.622	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3			32	103	1	0	9.94e-08	1.68e-07	32	103				
FBN3	84467	broad.mit.edu	37	19	8206823	8206824	+	Splice_Site	DNP	CC	CC	AA			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:8206823_8206824CC>AA	ENST00000600128.1	-	7	1153_1154	c.739_740GG>TT	c.(739-741)GGt>TTt	p.G247F	FBN3_ENST00000270509.2_Splice_Site_p.G247F|FBN3_ENST00000601739.1_Splice_Site_p.G247F			Q75N90	FBN3_HUMAN	fibrillin 3	247	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCACTATTCACCTTGGCAGGCC	0.634																																						uc002mjf.2		NA																	0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.e6+1		fibrillin 3 precursor																																				SO:0001630	splice_region_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8206823_8206824CC>AA		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.739_740delinsAA	19.37:g.8206823_8206824delinsAA							p.D247_splice	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			6	760	-								Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Splice_Site	DNP	ENST00000600128.1	37	c.739_splice	CCDS12196.1																																																																																				0.634	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	Missense_Mutation	12	48	0	0	0	0	12	48				
MYO1F	4542	broad.mit.edu	37	19	8587264	8587264	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:8587264C>T	ENST00000338257.8	-	27	3484	c.3217G>A	c.(3217-3219)Gaa>Aaa	p.E1073K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1073	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACACACCTTCCATGAGGATC	0.592																																						uc002mkg.2		NA																	0				ovary(2)|skin(1)	3						c.(3217-3219)GAA>AAA		myosin IF							61.0	64.0	63.0					19																	8587264		2131	4233	6364	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8587264C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3217G>A	19.37:g.8587264C>T	ENSP00000344871:p.Glu1073Lys						p.E1073K	NM_012335	NP_036467	O00160	MYO1F_HUMAN			27	3331	-			1073			SH3.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.3217G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028477	0.54790	.	.	ENSG00000142347	ENST00000338257	T	0.49432	0.78	5.5	5.5	0.81552	Src homology-3 domain (5);	.	.	.	.	T	0.27384	0.0672	N	0.01424	-0.875	0.80722	D	1	P	0.38148	0.62	P	0.45474	0.482	T	0.28713	-1.0035	9	0.02654	T	1	.	17.9674	0.89103	0.0:1.0:0.0:0.0	.	1073	O00160	MYO1F_HUMAN	K	1073	ENSP00000344871:E1073K	ENSP00000344871:E1073K	E	-	1	0	MYO1F	8493264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.767000	0.85331	2.572000	0.86782	0.650000	0.86243	GAA		0.592	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			12	27	0	0	0	0	12	27				
MUC16	94025	broad.mit.edu	37	19	9015728	9015728	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9015728C>A	ENST00000397910.4	-	29	38298	c.38095G>T	c.(38095-38097)Gtg>Ttg	p.V12699L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12701	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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						GTGAACGGCACCAGGAGAGGG	0.458																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38095-38097)GTG>TTG		mucin 16							188.0	163.0	171.0					19																	9015728		1952	4122	6074	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9015728C>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.38095G>T	19.37:g.9015728C>A	ENSP00000381008:p.Val12699Leu					MUC16_uc010xki.1_5'Flank	p.V12699L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			29	38299	-			12701			SEA 5.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38095G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.028	0.002750	0.07866	.	.	ENSG00000181143	ENST00000397910	T	0.40756	1.02	2.38	-1.33	0.09172	.	.	.	.	.	T	0.33089	0.0851	M	0.63428	1.95	.	.	.	B	0.09022	0.002	B	0.16289	0.015	T	0.43294	-0.9400	8	0.87932	D	0	.	1.0243	0.01524	0.2224:0.3841:0.2411:0.1524	.	12699	B5ME49	.	L	12699	ENSP00000381008:V12699L	ENSP00000381008:V12699L	V	-	1	0	MUC16	8876728	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.732000	0.04904	-0.205000	0.10219	-0.708000	0.03648	GTG		0.458	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	113	1	0	0.000109025	0.000166631	35	113				
MUC16	94025	broad.mit.edu	37	19	9059286	9059286	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9059286G>A	ENST00000397910.4	-	3	28363	c.28160C>T	c.(28159-28161)tCa>tTa	p.S9387L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9389	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						GGCTGTGCTTGATGAGTCCAA	0.527																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(28159-28161)TCA>TTA		mucin 16							134.0	133.0	133.0					19																	9059286		1999	4165	6164	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059286G>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.28160C>T	19.37:g.9059286G>A	ENSP00000381008:p.Ser9387Leu						p.S9387L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	28364	-			9389			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28160C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.303	0.424066	0.11928	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.88	-2.11	0.07187	.	.	.	.	.	T	0.02267	0.0070	L	0.29908	0.895	.	.	.	B	0.12630	0.006	B	0.20184	0.028	T	0.44937	-0.9295	8	0.87932	D	0	.	2.7006	0.05148	0.3952:0.257:0.3478:0.0	.	9387	B5ME49	.	L	9387	ENSP00000381008:S9387L	ENSP00000381008:S9387L	S	-	2	0	MUC16	8920286	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	0.021000	0.13489	-0.466000	0.06943	0.306000	0.20318	TCA		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		35	103	0	0	0	0	35	103				
MUC16	94025	broad.mit.edu	37	19	9059658	9059658	+	Missense_Mutation	SNP	G	G	C	rs190782019		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9059658G>C	ENST00000397910.4	-	3	27991	c.27788C>G	c.(27787-27789)aCa>aGa	p.T9263R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9265	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						GAGAACATTTGTATCTCCTGT	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		21565	0.001		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.(27787-27789)ACA>AGA		mucin 16							100.0	101.0	101.0					19																	9059658		2067	4217	6284	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9059658G>C	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.27788C>G	19.37:g.9059658G>C	ENSP00000381008:p.Thr9263Arg						p.T9263R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	27992	-			9265			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.27788C>G	CCDS54212.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	g	3.435	-0.115227	0.06881	.	.	ENSG00000181143	ENST00000397910	T	0.35048	1.33	2.24	-0.263	0.12954	.	.	.	.	.	T	0.31544	0.0800	L	0.27053	0.805	.	.	.	P	0.51791	0.948	P	0.51777	0.679	T	0.41538	-0.9503	8	0.87932	D	0	.	6.5129	0.22232	0.0:0.0:0.4863:0.5137	.	9263	B5ME49	.	R	9263	ENSP00000381008:T9263R	ENSP00000381008:T9263R	T	-	2	0	MUC16	8920658	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.268000	0.02836	0.024000	0.15214	0.306000	0.20318	ACA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	90	0	0	0	0	29	90				
MUC16	94025	broad.mit.edu	37	19	9071927	9071927	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9071927A>G	ENST00000397910.4	-	3	15722	c.15519T>C	c.(15517-15519)ggT>ggC	p.G5173G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5175	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						TCTCAGAGGAACCATGCACTG	0.498																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(15517-15519)GGT>GGC		mucin 16							293.0	277.0	283.0					19																	9071927		2011	4179	6190	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9071927A>G	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.15519T>C	19.37:g.9071927A>G							p.G5173G	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	15723	-			5175			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.15519T>C	CCDS54212.1																																																																																				0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		70	242	0	0	0	0	70	242				
MUC16	94025	broad.mit.edu	37	19	9075894	9075894	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:9075894T>A	ENST00000397910.4	-	3	11755	c.11552A>T	c.(11551-11553)cAg>cTg	p.Q3851L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3852	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						CCCTTGTCTCTGAAAAGTTGC	0.502																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(11551-11553)CAG>CTG		mucin 16							164.0	146.0	152.0					19																	9075894		2025	4186	6211	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075894T>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.11552A>T	19.37:g.9075894T>A	ENSP00000381008:p.Gln3851Leu						p.Q3851L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	11756	-			3852			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.11552A>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.561	-0.089563	0.07053	.	.	ENSG00000181143	ENST00000397910	T	0.02395	4.31	1.67	0.578	0.17391	.	.	.	.	.	T	0.02156	0.0067	N	0.08118	0	.	.	.	D	0.55172	0.97	P	0.48089	0.566	T	0.45891	-0.9230	8	0.87932	D	0	.	3.7475	0.08554	0.0:0.2121:0.0:0.7879	.	3851	B5ME49	.	L	3851	ENSP00000381008:Q3851L	ENSP00000381008:Q3851L	Q	-	2	0	MUC16	8936894	0.003000	0.15002	0.001000	0.08648	0.071000	0.16799	0.187000	0.16998	0.095000	0.17434	0.172000	0.16884	CAG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	67	0	0	0	0	34	67				
TYK2	7297	broad.mit.edu	37	19	10475629	10475629	+	Silent	SNP	C	C	T	rs377353763		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:10475629C>T	ENST00000525621.1	-	8	1588	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	TYK2_ENST00000529370.1_Silent_p.P369P|TYK2_ENST00000264818.6_Silent_p.P369P|TYK2_ENST00000524462.1_Silent_p.P184P	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	369	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GTGGCTCCCGCGGCCTGTCTG	0.617																																						uc002moc.3		NA																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(1105-1107)CCG>CCA		tyrosine kinase 2		C		0,4406		0,0,2203	47.0	49.0	49.0		1107	-8.4	0.0	19		49	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TYK2	NM_003331.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		369/1188	10475629	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10475629C>T		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1107G>A	19.37:g.10475629C>T						TYK2_uc010dxe.2_Silent_p.P184P|TYK2_uc002mod.2_Silent_p.P369P	p.P369P	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		8	1485	-			369			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.1107G>A	CCDS12236.1																																																																																				0.617	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			20	43	0	0	0	0	20	43				
SMARCA4	6597	broad.mit.edu	37	19	11144853	11144853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:11144853G>T	ENST00000429416.3	+	29	4209	c.3928G>T	c.(3928-3930)Gag>Tag	p.E1310*	SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.E1310*|SMARCA4_ENST00000358026.2_Nonsense_Mutation_p.E1310*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.E1277*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.E1277*	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1310					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|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 from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E1310*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGCCCGGCACGAGGAGGAGTT	0.597			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Nonsense(2)|Unknown(1)	p.E1310*(2)	lung(3)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3928-3930)GAG>TAG		SWI/SNF-related matrix-associated							128.0	101.0	110.0					19																	11144853		2203	4300	6503	SO:0001587	stop_gained	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11144853G>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3928G>T	19.37:g.11144853G>T	ENSP00000395654:p.Glu1310*					SMARCA4_uc010dxp.2_Nonsense_Mutation_p.E1310*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.E1310*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.E1277*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.E1277*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.E1277*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.E1277*|SMARCA4_uc010dxt.1_Nonsense_Mutation_p.E497*|SMARCA4_uc002mqh.3_Nonsense_Mutation_p.E400*|SMARCA4_uc002mqi.1_Nonsense_Mutation_p.E480*	p.E1310*	NM_003072	NP_003063	P51532	SMCA4_HUMAN			28	4212	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1310					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Nonsense_Mutation	SNP	ENST00000429416.3	37	c.3928G>T	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.199513|9.199513	0.99098|0.99098	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806|ENST00000538456	.|.	.|.	.|.	4.64|4.64	4.64|4.64	0.57946|0.57946	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.71600	.|0.3359	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74423	.|-0.3670	.|3	0.87932|.	D|.	0|.	-40.0189|-40.0189	16.4262|16.4262	0.83815|0.83815	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	1310;1310;1341;1310;1277;1277;1277;1277|46	.|.	ENSP00000343896:E1310X|.	E|R	+|+	1|2	0|0	SMARCA4|SMARCA4	11005853|11005853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.628000|0.628000	0.37860|0.37860	9.304000|9.304000	0.96190|0.96190	2.423000|2.423000	0.82170|0.82170	0.462000|0.462000	0.41574|0.41574	GAG|CGA		0.597	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		24	44	1	0	2.22e-12	4.09e-12	24	44				
ZNF625	90589	broad.mit.edu	37	19	12256682	12256682	+	Silent	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:12256682T>A	ENST00000355738.1	-	4	700	c.351A>T	c.(349-351)atA>atT	p.I117I	ZNF625_ENST00000542938.1_Silent_p.I117I|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000455799.1_3'UTR|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Silent_p.I183I			Q96I27	ZN625_HUMAN	zinc finger protein 625	117					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)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						CACTGTGCATTATCCTGTGTC	0.433																																						uc002mth.2		NA																	0					0						c.(349-351)ATA>ATT		zinc finger protein 625							140.0	132.0	135.0					19																	12256682		2203	4300	6503	SO:0001819	synonymous_variant	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256682T>A	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.351A>T	19.37:g.12256682T>A						ZNF20_uc002mtg.1_Intron|ZNF625_uc010dyn.1_RNA|ZNF625_uc010dyo.1_Silent_p.I151I	p.I117I	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			4	701	-			117			C2H2-type 3.		A4FU45|I3L0E9	Silent	SNP	ENST00000355738.1	37	c.351A>T																																																																																					0.433	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233		32	89	0	0	0	0	32	89				
CACNA1A	773	broad.mit.edu	37	19	13340911	13340911	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:13340911T>C	ENST00000360228.5	-	36	5512	c.5513A>G	c.(5512-5514)tAt>tGt	p.Y1838C	CACNA1A_ENST00000573710.2_Missense_Mutation_p.Y1839C|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1839					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	TGCGGGGTCATACTCGGCCCA	0.587																																						uc010dze.2		NA																	0				large_intestine(2)	2						c.(5515-5517)TAT>TGT		calcium channel, alpha 1A subunit isoform 3	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						66.0	72.0	70.0					19																	13340911		2067	4231	6298	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13340911T>C	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5513A>G	19.37:g.13340911T>C	ENSP00000353362:p.Tyr1838Cys					CACNA1A_uc010xnd.1_Missense_Mutation_p.Y544C|CACNA1A_uc002mwx.3_Missense_Mutation_p.Y544C|CACNA1A_uc010dzc.2_Missense_Mutation_p.Y1364C|CACNA1A_uc002mwy.3_Missense_Mutation_p.Y1838C|CACNA1A_uc002mwv.3_Missense_Mutation_p.Y355C	p.Y1839C	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		36	5752	-			1839			Cytoplasmic (Potential).		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5516A>G	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.781205	0.49891	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.97161	-4.27	4.08	4.08	0.47627	.	0.279234	0.30446	N	0.009603	D	0.98658	0.9550	M	0.93550	3.43	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.995;0.999;0.994;0.997	D	0.99372	1.0920	10	0.87932	D	0	.	12.0368	0.53429	0.0:0.0:0.0:1.0	.	1839;1844;1838;1839	O00555;E9PD31;Q9NS88;E7EVF2	CAC1A_HUMAN;.;.;.	C	1838;1844;1839;1839	ENSP00000353362:Y1838C	ENSP00000317661:Y1839C	Y	-	2	0	CACNA1A	13201911	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.964000	0.87933	1.494000	0.48533	0.459000	0.35465	TAT		0.587	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		9	13	0	0	0	0	9	13				
RFX1	5989	broad.mit.edu	37	19	14094399	14094399	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:14094399T>G	ENST00000254325.4	-	3	562	c.328A>C	c.(328-330)Atg>Ctg	p.M110L		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	110					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CTGGCCCGCATGGCACCTTCT	0.672																																						uc002mxv.2		NA																	0				lung(1)|pancreas(1)	2						c.(328-330)ATG>CTG		regulatory factor X1							19.0	20.0	19.0					19																	14094399		2194	4294	6488	SO:0001583	missense	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14094399T>G		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.328A>C	19.37:g.14094399T>G	ENSP00000254325:p.Met110Leu					RFX1_uc010dzi.2_Missense_Mutation_p.M110L	p.M110L	NM_002918	NP_002909	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		3	600	-			110						Missense_Mutation	SNP	ENST00000254325.4	37	c.328A>C	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	T	12.11	1.840012	0.32513	.	.	ENSG00000132005	ENST00000254325	T	0.38240	1.15	4.66	3.61	0.41365	.	0.385573	0.28754	N	0.014241	T	0.16727	0.0402	N	0.08118	0	0.24662	N	0.993467	B	0.02656	0.0	B	0.01281	0.0	T	0.13361	-1.0512	10	0.49607	T	0.09	-27.7279	4.6397	0.12543	0.1699:0.0924:0.0:0.7377	.	110	P22670	RFX1_HUMAN	L	110	ENSP00000254325:M110L	ENSP00000254325:M110L	M	-	1	0	RFX1	13955399	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.274000	0.33132	0.591000	0.29711	0.379000	0.24179	ATG		0.672	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	NM_002918		3	10	0	0	0	0	3	10				
ZNF99	7652	broad.mit.edu	37	19	22940748	22940748	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:22940748C>T	ENST00000596209.1	-	4	2053	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	ZNF99_ENST00000397104.3_Missense_Mutation_p.G564S	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	655					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)				AAAGCTTTACCACATTCTTCA	0.378																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1690-1692)GGT>AGT		zinc finger protein 99							46.0	50.0	49.0					19																	22940748		2128	4252	6380	SO:0001583	missense	7652							g.chr19:22940748C>T	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.1963G>A	19.37:g.22940748C>T	ENSP00000472969:p.Gly655Ser						p.G564S	NM_001080409	NP_001073878					5	1690	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1690G>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	17.00	3.277634	0.59758	.	.	ENSG00000213973	ENST00000397104	T	0.00583	6.41	1.16	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01454	0.0047	L	0.45228	1.405	0.33284	D	0.562702	D	0.89917	1.0	D	0.81914	0.995	T	0.57033	-0.7880	9	0.66056	D	0.02	.	9.2264	0.37410	0.0:1.0:0.0:0.0	.	564	A8MXY4	ZNF99_HUMAN	S	564	ENSP00000380293:G564S	ENSP00000380293:G564S	G	-	1	0	ZNF99	22732588	0.553000	0.26513	0.006000	0.13384	0.473000	0.32948	1.496000	0.35638	0.597000	0.29811	0.194000	0.17425	GGT		0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		11	49	0	0	0	0	11	49				
ZNF254	9534	broad.mit.edu	37	19	24309076	24309076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:24309076C>T	ENST00000357002.4	+	4	389	c.274C>T	c.(274-276)Caa>Taa	p.Q92*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.Q7*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	92					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TCATTTTGCTCAAGACCTTTG	0.308																																						uc002nru.2		NA																	0					0						c.(274-276)CAA>TAA		zinc finger protein 254							32.0	33.0	33.0					19																	24309076		2168	4279	6447	SO:0001587	stop_gained	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24309076C>T	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.274C>T	19.37:g.24309076C>T	ENSP00000349494:p.Gln92*					ZNF254_uc010xrk.1_Nonsense_Mutation_p.Q7*	p.Q92*	NM_203282	NP_975011	O75437	ZN254_HUMAN			4	408	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	92					A4QPC0|Q86XL7	Nonsense_Mutation	SNP	ENST00000357002.4	37	c.274C>T	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.300040	0.40694	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	.	.	.	1.42	-0.124	0.13523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	6.8441	0.23979	0.0:0.4613:0.5387:0.0	.	.	.	.	X	7;92;92	.	ENSP00000445527:Q7X	Q	+	1	0	ZNF254	24100916	.	.	0.003000	0.11579	0.631000	0.37964	.	.	0.536000	0.28733	0.313000	0.20887	CAA		0.308	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		7	30	0	0	0	0	7	30				
TSHZ3	57616	broad.mit.edu	37	19	31769884	31769884	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:31769884T>A	ENST00000240587.4	-	2	1142	c.815A>T	c.(814-816)cAg>cTg	p.Q272L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	272					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAGCACCTTCTGGGCGTCTTC	0.512																																						uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(814-816)CAG>CTG		zinc finger protein 537							161.0	141.0	148.0					19																	31769884		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769884T>A	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.815A>T	19.37:g.31769884T>A	ENSP00000240587:p.Gln272Leu						p.Q272L	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	880	-	Esophageal squamous(110;0.226)		272					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.815A>T	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	T	19.81	3.895871	0.72639	.	.	ENSG00000121297	ENST00000240587	T	0.41758	0.99	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.36672	1.1	0.80722	D	1	P	0.48016	0.904	D	0.69824	0.966	T	0.58808	-0.7571	10	0.87932	D	0	-34.3512	15.9132	0.79488	0.0:0.0:0.0:1.0	.	272	Q63HK5	TSH3_HUMAN	L	272	ENSP00000240587:Q272L	ENSP00000240587:Q272L	Q	-	2	0	TSHZ3	36461724	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.148000	0.66965	0.533000	0.62120	CAG		0.512	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		44	148	0	0	0	0	44	148				
ZNF507	22847	broad.mit.edu	37	19	32844667	32844667	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:32844667G>A	ENST00000311921.4	+	2	1123	c.931G>A	c.(931-933)Gag>Aag	p.E311K	ZNF507_ENST00000355898.5_Missense_Mutation_p.E311K|ZNF507_ENST00000544431.1_Missense_Mutation_p.E311K	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	311					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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGCTATTGGAGAGAGTGAACT	0.473																																						uc002nte.2		NA																	0				ovary(1)|pancreas(1)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(931-933)GAG>AAG		zinc finger protein 507							158.0	149.0	152.0					19																	32844667		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844667G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.931G>A	19.37:g.32844667G>A	ENSP00000312277:p.Glu311Lys					ZNF507_uc002ntc.2_Missense_Mutation_p.E311K|ZNF507_uc010xrn.1_Missense_Mutation_p.E311K|ZNF507_uc002ntd.2_Missense_Mutation_p.E311K	p.E311K	NM_001136156	NP_001129628	Q8TCN5	ZN507_HUMAN			3	1203	+	Esophageal squamous(110;0.162)		311					A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.931G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579140	0.46006	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.05925	3.68;3.68;3.37	5.91	3.8	0.43715	.	0.346611	0.37393	N	0.002119	T	0.02727	0.0082	N	0.08118	0	0.09310	N	0.999994	B;B	0.19817	0.023;0.039	B;B	0.18871	0.01;0.023	T	0.47005	-0.9150	10	0.05959	T	0.93	.	9.3192	0.37952	0.1793:0.0:0.8207:0.0	.	311;311	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	K	311	ENSP00000348162:E311K;ENSP00000312277:E311K;ENSP00000441549:E311K	ENSP00000312277:E311K	E	+	1	0	ZNF507	37536507	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.120000	0.57897	2.791000	0.96007	0.655000	0.94253	GAG		0.473	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		47	159	0	0	0	0	47	159				
FXYD3	5349	broad.mit.edu	37	19	35613703	35613703	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:35613703C>G	ENST00000344013.6	+	6	328	c.132C>G	c.(130-132)tgC>tgG	p.C44W	FXYD3_ENST00000603181.1_Missense_Mutation_p.C44W|FXYD3_ENST00000346446.5_Missense_Mutation_p.C44W|FXYD3_ENST00000406988.1_Missense_Mutation_p.C44W|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000406242.3_Missense_Mutation_p.C44W|FXYD3_ENST00000535103.1_Missense_Mutation_p.C101W|FXYD3_ENST00000605677.1_Missense_Mutation_p.C44W|FXYD3_ENST00000604621.1_Missense_Mutation_p.C44W|FXYD3_ENST00000604255.1_Missense_Mutation_p.C101W|FXYD3_ENST00000605550.1_Missense_Mutation_p.C44W|FXYD3_ENST00000603524.1_Missense_Mutation_p.C73W|FXYD3_ENST00000604404.1_Missense_Mutation_p.C44W|FXYD3_ENST00000435734.2_Missense_Mutation_p.C44W|FXYD3_ENST00000604804.1_Missense_Mutation_p.C73W			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	44					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGCTCATCTGCGCTGGGGTTC	0.652																																						uc010xsn.1		NA																	0					0						c.(130-132)TGC>TGG		FXYD domain containing ion transport regulator 3							83.0	88.0	86.0					19																	35613703		2203	4300	6503	SO:0001583	missense	5349					chloride channel complex|integral to plasma membrane	chloride channel activity	g.chr19:35613703C>G	X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"""FXYD domain-containing ion transport regulator 3"""	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.132C>G	19.37:g.35613703C>G	ENSP00000339499:p.Cys44Trp					FXYD3_uc010xsl.1_Missense_Mutation_p.C44W|FXYD3_uc010xsm.1_Missense_Mutation_p.C101W|FXYD3_uc002nxw.2_Missense_Mutation_p.C44W|FXYD3_uc002nxv.2_Missense_Mutation_p.C44W|FXYD3_uc010xso.1_Missense_Mutation_p.C44W	p.C44W	NM_001136011	NP_001129483	Q14802	FXYD3_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		7	458	+	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		44			Helical; (Potential).		A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	ENST00000344013.6	37	c.132C>G	CCDS12442.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791475	0.31685	.	.	ENSG00000089356	ENST00000406242;ENST00000435734;ENST00000346446;ENST00000344013;ENST00000406988;ENST00000535103	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.97	-3.87	0.04218	.	0.142719	0.49305	D	0.000160	T	0.67683	0.2919	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.74674	0.971;0.984;0.977;0.947	T	0.66260	-0.5968	10	0.66056	D	0.02	-2.612	11.5874	0.50927	0.0:0.5682:0.0:0.4318	.	101;44;44;44	F5H174;F8WB34;Q14802-2;Q14802	.;.;.;FXYD3_HUMAN	W	44;101;44;44;44;101	ENSP00000385412:C44W;ENSP00000328259:C44W;ENSP00000339499:C44W;ENSP00000385200:C44W;ENSP00000443953:C101W	ENSP00000339499:C44W	C	+	3	2	FXYD3	40305543	0.548000	0.26473	0.382000	0.26119	0.157000	0.22087	-1.096000	0.03353	-1.379000	0.02118	-0.827000	0.03088	TGC		0.652	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000468985.1	NM_021910		32	75	0	0	0	0	32	75				
KIRREL2	84063	broad.mit.edu	37	19	36357124	36357124	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:36357124T>C	ENST00000360202.5	+	15	2055	c.1857T>C	c.(1855-1857)ccT>ccC	p.P619P	KIRREL2_ENST00000347900.6_Intron|APLP1_ENST00000537454.2_5'Flank|KIRREL2_ENST00000262625.7_Intron|APLP1_ENST00000221891.4_5'Flank|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000592409.1_Silent_p.P584P	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	619					cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGAAGCCCCTGGAGGAGGTC	0.607																																						uc002ocb.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1855-1857)CCT>CCC		kin of IRRE-like 2 isoform c							77.0	75.0	76.0					19																	36357124		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36357124T>C	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.1857T>C	19.37:g.36357124T>C						KIRREL2_uc002obz.3_Intron|KIRREL2_uc002oca.3_Intron|KIRREL2_uc002occ.3_Silent_p.P566P|KIRREL2_uc002ocd.3_Silent_p.P581P|APLP1_uc010xsz.1_5'Flank|APLP1_uc002oce.2_5'Flank|APLP1_uc002ocf.2_5'Flank|APLP1_uc002ocg.2_5'Flank	p.P619P	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		15	2069	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		619			Cytoplasmic (Potential).		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.1857T>C	CCDS12481.1																																																																																				0.607	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		20	88	0	0	0	0	20	88				
ZNF540	163255	broad.mit.edu	37	19	38103945	38103945	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:38103945T>A	ENST00000592533.1	+	5	2096	c.1764T>A	c.(1762-1764)ttT>ttA	p.F588L	ZNF540_ENST00000343599.5_Missense_Mutation_p.F588L|ZNF540_ENST00000316433.4_Missense_Mutation_p.F588L|ZNF540_ENST00000589117.1_Missense_Mutation_p.F556L	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	588					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAGGCCTTTAGTCGTAGTG	0.408																																						uc002ogq.2		NA																	0				large_intestine(1)	1						c.(1762-1764)TTT>TTA		zinc finger protein 540							70.0	73.0	72.0					19																	38103945		2203	4300	6503	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38103945T>A	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.1764T>A	19.37:g.38103945T>A	ENSP00000466274:p.Phe588Leu					ZNF540_uc002ogu.2_Missense_Mutation_p.F588L|ZNF540_uc010efq.2_Missense_Mutation_p.F556L	p.F588L	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	2096	+			588			C2H2-type 15.		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.1764T>A	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303454	0.81136	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T	0.46063	0.88	2.27	-0.111	0.13576	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44477	0.1295	M	0.82517	2.595	0.09310	N	1	D;P	0.56287	0.975;0.944	B;P	0.45449	0.349;0.481	T	0.41805	-0.9488	9	0.87932	D	0	.	3.5933	0.07997	0.1998:0.1353:0.0:0.6649	.	556;588	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	L	588;556	ENSP00000324598:F588L	ENSP00000324598:F588L	F	+	3	2	ZNF540	42795785	0.000000	0.05858	0.049000	0.19019	0.985000	0.73830	-0.488000	0.06497	0.083000	0.17047	0.254000	0.18369	TTT		0.408	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		18	51	0	0	0	0	18	51				
RYR1	6261	broad.mit.edu	37	19	38956797	38956797	+	Silent	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:38956797G>C	ENST00000359596.3	+	24	2937	c.2937G>C	c.(2935-2937)gcG>gcC	p.A979A	RYR1_ENST00000355481.4_Silent_p.A979A|RYR1_ENST00000360985.3_Silent_p.A979A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	979	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)	TGACGCCGGCGCAGACGACAC	0.652																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(2935-2937)GCG>GCC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						31.0	33.0	32.0					19																	38956797		2200	4299	6499	SO:0001819	synonymous_variant	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.chr19:38956797G>C	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.2937G>C	19.37:g.38956797G>C						RYR1_uc002oiu.2_Silent_p.A979A	p.A979A	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		24	3067	+	all_cancers(60;7.91e-06)		979			2.|Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.2937G>C	CCDS33011.1																																																																																				0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			7	18	0	0	0	0	7	18				
HIPK4	147746	broad.mit.edu	37	19	40886623	40886623	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:40886623G>T	ENST00000291823.2	-	3	1559	c.1275C>A	c.(1273-1275)gcC>gcA	p.A425A		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	425					histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GCTGGTCGATGGCTCTTTGCA	0.617																																						uc002onp.2		NA																	0				ovary(1)|stomach(1)	2						c.(1273-1275)GCC>GCA		homeodomain interacting protein kinase 4							70.0	73.0	72.0					19																	40886623		2203	4300	6503	SO:0001819	synonymous_variant	147746					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr19:40886623G>T	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.1275C>A	19.37:g.40886623G>T							p.A425A	NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)		3	1560	-			425					A8K863|Q96M54	Silent	SNP	ENST00000291823.2	37	c.1275C>A	CCDS12555.1																																																																																				0.617	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685		41	79	1	0	9.86e-28	2.06e-27	41	79				
CYP2B6	1555	broad.mit.edu	37	19	41516003	41516003	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:41516003C>T	ENST00000324071.4	+	6	934	c.927C>T	c.(925-927)taC>taT	p.Y309Y	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	309					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	CTCTCCGCTACGGCTTCCTGC	0.562																																						uc002opr.1		NA																	0				ovary(1)|skin(1)	2						c.(925-927)TAC>TAT		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						125.0	92.0	103.0					19																	41516003		2203	4300	6503	SO:0001819	synonymous_variant	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41516003C>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.927C>T	19.37:g.41516003C>T						CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.Y309Y	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		6	934	+			309					B4DWP3|Q2V565|Q9UK46	Silent	SNP	ENST00000324071.4	37	c.927C>T	CCDS12570.1																																																																																				0.562	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767		14	68	0	0	0	0	14	68				
CEACAM7	1087	broad.mit.edu	37	19	42190981	42190981	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:42190981A>T	ENST00000006724.3	-	2	437	c.236T>A	c.(235-237)aTt>aAt	p.I79N	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.I79N|CEACAM7_ENST00000338196.4_Missense_Mutation_p.I79N|CEACAM7_ENST00000602225.1_Missense_Mutation_p.I79N	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	79	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		ATATCCTATAATTCGATAGTT	0.458																																						uc002ori.1		NA																	0				ovary(2)	2						c.(235-237)ATT>AAT		carcinoembryonic antigen-related cell adhesion							134.0	143.0	140.0					19																	42190981		2203	4300	6503	SO:0001583	missense	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42190981A>T	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.236T>A	19.37:g.42190981A>T	ENSP00000006724:p.Ile79Asn					CEACAM7_uc010ehx.2_Missense_Mutation_p.I79N|CEACAM7_uc010ehy.1_Missense_Mutation_p.I79N	p.I79N	NM_006890	NP_008821	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	238	-			79			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	c.236T>A	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870133	0.33069	.	.	ENSG00000007306	ENST00000006724;ENST00000401731;ENST00000338196	T;T;T	0.71698	-0.59;-0.59;-0.59	1.68	1.68	0.24146	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86756	0.6009	H	0.97158	3.95	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73288	-0.4030	9	0.87932	D	0	.	5.421	0.16400	1.0:0.0:0.0:0.0	.	79;79	Q14002-2;Q14002	.;CEAM7_HUMAN	N	79	ENSP00000006724:I79N;ENSP00000385932:I79N;ENSP00000343286:I79N	ENSP00000006724:I79N	I	-	2	0	CEACAM7	46882821	0.294000	0.24380	0.044000	0.18714	0.106000	0.19336	1.588000	0.36633	1.018000	0.39521	0.260000	0.18958	ATT		0.458	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	NM_006890		46	116	0	0	0	0	46	116				
PSG11	5680	broad.mit.edu	37	19	43529181	43529181	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:43529181G>T	ENST00000401740.1	-	2	195	c.92C>A	c.(91-93)cCt>cAt	p.P31H	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.P31H			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	31					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGCAGTGGTAGGCAAGTTCCA	0.483																																						uc002ovh.1		NA																	0				ovary(1)|skin(1)	2						c.(109-111)CCT>CAT		SubName: Full=Putative uncharacterized protein PSG6;							173.0	179.0	177.0					19																	43529181		2199	4294	6493	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43529181G>T	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.92C>A	19.37:g.43529181G>T	ENSP00000384995:p.Pro31His					PSG11_uc002ouw.2_Missense_Mutation_p.P37H|PSG10_uc002ouv.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.P37H|PSG11_uc002ovm.1_Missense_Mutation_p.P31H|PSG11_uc002ovn.1_Missense_Mutation_p.P37H|PSG11_uc002ovo.1_Intron|PSG11_uc002ovp.1_Intron	p.P37H			Q00889	PSG6_HUMAN			2	199	-		Prostate(69;0.00899)	31					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.110C>A	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	g	9.634	1.137273	0.21123	.	.	ENSG00000243130	ENST00000320078;ENST00000401740	T;T	0.37235	1.21;1.21	0.929	-0.211	0.13172	.	.	.	.	.	T	0.58764	0.2145	M	0.90425	3.115	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46762	-0.9168	9	0.87932	D	0	.	3.0184	0.06067	0.3533:0.0:0.6467:0.0	.	31	Q9UQ72	PSG11_HUMAN	H	31	ENSP00000319140:P31H;ENSP00000384995:P31H	ENSP00000319140:P31H	P	-	2	0	PSG11	48221021	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.035000	0.13797	-0.040000	0.13580	0.184000	0.17185	CCT		0.483	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		50	153	1	0	4.01e-20	8.14e-20	50	153				
PSG2	5670	broad.mit.edu	37	19	43585036	43585036	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:43585036A>G	ENST00000406487.1	-	2	525	c.427T>C	c.(427-429)Tac>Cac	p.Y143H	PSG2_ENST00000491995.1_5'Flank	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	143	Ig-like V-type.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CACTTACGGTATAAGGTGAAG	0.507																																						uc002ovi.2		NA																	0				ovary(1)|skin(1)	2						c.(427-429)TAC>CAC		SubName: Full=Putative uncharacterized protein PSG6;							122.0	116.0	118.0					19																	43585036		2201	4296	6497	SO:0001583	missense	5675				female pregnancy	extracellular region		g.chr19:43585036A>G		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.427T>C	19.37:g.43585036A>G	ENSP00000385706:p.Tyr143His					PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Missense_Mutation_p.Y143H|PSG2_uc002ovq.3_Missense_Mutation_p.Y143H|PSG2_uc010eiq.1_Missense_Mutation_p.Y143H|PSG2_uc002ovs.3_Missense_Mutation_p.Y143H|PSG2_uc002ovt.3_Missense_Mutation_p.Y143H	p.Y143H			Q00889	PSG6_HUMAN			2	520	-		Prostate(69;0.00899)	142			Ig-like V-type.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.427T>C	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	N	1.451	-0.565064	0.03939	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	T	0.32515	1.45	0.569	0.569	0.17340	Immunoglobulin subtype (1);	.	.	.	.	T	0.13927	0.0337	N	0.05383	-0.06	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15870	0.007;0.014	T	0.27806	-1.0063	8	0.29301	T	0.29	.	.	.	.	.	143;143	B5MCM8;P11465	.;PSG2_HUMAN	H	143	ENSP00000385706:Y143H	ENSP00000332984:Y143H	Y	-	1	0	PSG2	48276876	0.001000	0.12720	0.026000	0.17262	0.025000	0.11179	0.212000	0.17497	0.477000	0.27464	0.155000	0.16302	TAC		0.507	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		37	131	0	0	0	0	37	131				
XRCC1	7515	broad.mit.edu	37	19	44051050	44051050	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:44051050T>A	ENST00000262887.5	-	11	1826	c.1279A>T	c.(1279-1281)Aag>Tag	p.K427*	XRCC1_ENST00000543982.1_Nonsense_Mutation_p.K396*			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	427					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TGAGGAAGCTTGGGGGCTTCA	0.617								Other BER factors																														uc002owt.2		NA																	0				ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(1279-1281)AAG>TAG	Other_BER_factors	X-ray repair cross complementing protein 1							62.0	62.0	62.0					19																	44051050		2203	4300	6503	SO:0001587	stop_gained	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44051050T>A	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1279A>T	19.37:g.44051050T>A	ENSP00000262887:p.Lys427*					XRCC1_uc010xwp.1_Nonsense_Mutation_p.K396*	p.K427*	NM_006297	NP_006288	P18887	XRCC1_HUMAN			11	1399	-		Prostate(69;0.0153)	427					Q6IBS4|Q9HCB1	Nonsense_Mutation	SNP	ENST00000262887.5	37	c.1279A>T	CCDS12624.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	33|33	5.270314|5.270314	0.95429|0.95429	.|.	.|.	ENSG00000073050|ENSG00000073050	ENST00000538738|ENST00000458471;ENST00000262887;ENST00000543982	.|.	.|.	.|.	5.13|5.13	1.51|1.51	0.23008|0.23008	.|.	.|0.551779	.|0.20461	.|N	.|0.091882	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|-14.8548	10.2434|10.2434	0.43326|0.43326	0.0:0.0:0.5178:0.4822|0.0:0.0:0.5178:0.4822	.|.	.|.	.|.	.|.	.|X	-1|441;427;396	.|.	.|ENSP00000262887:K427X	.|K	-|-	.|1	.|0	XRCC1|XRCC1	48742890|48742890	0.950000|0.950000	0.32346|0.32346	0.577000|0.577000	0.28562|0.28562	0.780000|0.780000	0.44128|0.44128	0.463000|0.463000	0.21972|0.21972	0.425000|0.425000	0.26087|0.26087	0.496000|0.496000	0.49642|0.49642	.|AAG		0.617	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		18	64	0	0	0	0	18	64				
CADM4	199731	broad.mit.edu	37	19	44131332	44131332	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:44131332G>T	ENST00000222374.2	-	3	398	c.350C>A	c.(349-351)aCg>aAg	p.T117K	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	117	Ig-like V-type.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TACCGTGAGCGTGGCAATCTG	0.587																																						uc002oxc.1		NA																	0					0						c.(349-351)ACG>AAG		cell adhesion molecule 4 precursor							203.0	163.0	177.0					19																	44131332		2203	4300	6503	SO:0001583	missense	199731				cell adhesion	integral to membrane		g.chr19:44131332G>T	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.350C>A	19.37:g.44131332G>T	ENSP00000222374:p.Thr117Lys						p.T117K	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			3	399	-		Prostate(69;0.0199)	117			Ig-like V-type.|Extracellular (Potential).		B2R7L5|Q9Y4A4	Missense_Mutation	SNP	ENST00000222374.2	37	c.350C>A	CCDS12627.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177916	0.78564	.	.	ENSG00000105767	ENST00000222374	T	0.64803	-0.12	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	L	0.55990	1.75	0.58432	D	0.99999	D	0.89917	1.0	D	0.91635	0.999	T	0.68284	-0.5449	10	0.21540	T	0.41	.	17.3919	0.87434	0.0:0.0:1.0:0.0	.	117	Q8NFZ8	CADM4_HUMAN	K	117	ENSP00000222374:T117K	ENSP00000222374:T117K	T	-	2	0	CADM4	48823172	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.388000	0.73195	2.710000	0.92621	0.591000	0.81541	ACG		0.587	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296		26	71	1	0	2.46e-21	5.02e-21	26	71				
OPA3	80207	broad.mit.edu	37	19	46056875	46056875	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:46056875T>A	ENST00000263275.4	-	2	491	c.437A>T	c.(436-438)cAg>cTg	p.Q146L	OPA3_ENST00000323060.3_Intron|OPA3_ENST00000544371.1_Missense_Mutation_p.Q93L	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	146					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CAGGGCGCCCTGTGGCGGCGC	0.716																																						uc002pck.3		NA																	0					0						c.(436-438)CAG>CTG		OPA3 protein isoform b							16.0	20.0	19.0					19																	46056875		2134	4225	6359	SO:0001583	missense	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46056875T>A	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.437A>T	19.37:g.46056875T>A	ENSP00000263275:p.Gln146Leu					OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.Q93L	p.Q146L	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	537	-		Ovarian(192;0.051)|all_neural(266;0.112)	146			Potential.		Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	c.437A>T	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.378326	0.24944	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.82711	-1.61;-1.64	3.9	-1.41	0.08941	.	.	.	.	.	T	0.66470	0.2792	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47573	-0.9107	9	0.21014	T	0.42	.	0.956	0.01385	0.2974:0.1013:0.1668:0.4346	.	146	Q9H6K4	OPA3_HUMAN	L	146;93	ENSP00000263275:Q146L;ENSP00000442839:Q93L	ENSP00000263275:Q146L	Q	-	2	0	OPA3	50748715	0.000000	0.05858	0.001000	0.08648	0.104000	0.19210	-3.414000	0.00479	-0.098000	0.12285	0.402000	0.26972	CAG		0.716	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			13	39	0	0	0	0	13	39				
DMWD	1762	broad.mit.edu	37	19	46290016	46290016	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:46290016G>A	ENST00000270223.6	-	3	783	c.738C>T	c.(736-738)ccC>ccT	p.P246P	AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'Flank|DMWD_ENST00000377735.3_Silent_p.P246P	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	246										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCGAGGCGCAGGGGTGGCTGA	0.627																																						uc002pdj.1		NA																	0					0						c.(736-738)CCC>CCT		dystrophia myotonica-containing WD repeat motif							40.0	39.0	39.0					19																	46290016		2203	4300	6503	SO:0001819	synonymous_variant	1762				meiosis			g.chr19:46290016G>A	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.738C>T	19.37:g.46290016G>A						DMWD_uc002pdk.1_Silent_p.P246P|DMWD_uc010eko.1_5'UTR	p.P246P	NM_004943	NP_004934	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	784	-		Ovarian(192;0.0308)|all_neural(266;0.112)	246			WD 1.			Silent	SNP	ENST00000270223.6	37	c.738C>T	CCDS33054.1																																																																																				0.627	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		22	43	0	0	0	0	22	43				
ARHGAP35	2909	broad.mit.edu	37	19	47503715	47503715	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:47503715A>G	ENST00000404338.3	+	6	4270	c.4270A>G	c.(4270-4272)Atc>Gtc	p.I1424V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1424	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTACCAGACAATCATTGAACT	0.592																																						uc010ekv.2		NA																	0				central_nervous_system(1)	1						c.(4270-4272)ATC>GTC		glucocorticoid receptor DNA binding factor 1							207.0	219.0	215.0					19																	47503715		2148	4234	6382	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47503715A>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4270A>G	19.37:g.47503715A>G	ENSP00000385720:p.Ile1424Val						p.I1424V	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	6	4270	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	1424			Rho-GAP.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.4270A>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.334500	0.24253	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.40756	1.02	5.6	5.6	0.85130	.	0.050654	0.85682	D	0.000000	T	0.27559	0.0677	N	0.16201	0.385	0.54753	D	0.99998	B	0.11235	0.004	B	0.17098	0.017	T	0.09100	-1.0690	10	0.18710	T	0.47	-31.7493	14.7638	0.69623	1.0:0.0:0.0:0.0	.	1424	Q9NRY4-2	.	V	1424	ENSP00000385720:I1424V	ENSP00000324820:I1424V	I	+	1	0	ARHGAP35	52195555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.410000	0.80065	2.135000	0.66039	0.528000	0.53228	ATC		0.592	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		60	146	0	0	0	0	60	146				
KPTN	11133	broad.mit.edu	37	19	47978726	47978726	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:47978726G>T	ENST00000338134.3	-	12	1365	c.1258C>A	c.(1258-1260)Cag>Aag	p.Q420K	KPTN_ENST00000536339.1_Missense_Mutation_p.Q180K	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	420					actin filament organization (GO:0007015)|cellular component movement (GO:0006928)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		TCCAACCCCTGTAGCCGACGT	0.612																																						uc002pgy.2		NA																	0				ovary(1)	1						c.(1258-1260)CAG>AAG		kaptin (actin binding protein)							31.0	34.0	33.0					19																	47978726		2036	4180	6216	SO:0001583	missense	11133				actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding	g.chr19:47978726G>T	AF105369	CCDS42583.1	19q13.32	2014-08-13	2001-11-28		ENSG00000118162	ENSG00000118162			6404	protein-coding gene	gene with protein product		615620	"""kaptin (actin-binding protein)"""			10099934	Standard	XM_005258467		Approved	2E4	uc002pgy.3	Q9Y664	OTTHUMG00000183443	ENST00000338134.3:c.1258C>A	19.37:g.47978726G>T	ENSP00000337850:p.Gln420Lys					KPTN_uc010xys.1_RNA	p.Q420K	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)	12	1362	-		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	420					B3KN86|B4DQ76|Q96GT1	Missense_Mutation	SNP	ENST00000338134.3	37	c.1258C>A	CCDS42583.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.658931	0.29515	.	.	ENSG00000118162	ENST00000338134;ENST00000536339	.	.	.	3.63	3.63	0.41609	.	2.568680	0.02155	N	0.058288	T	0.48132	0.1483	L	0.50333	1.59	0.09310	N	1	B	0.21606	0.058	B	0.21546	0.035	T	0.34054	-0.9844	9	0.39692	T	0.17	-26.3746	10.974	0.47454	0.0:0.0:1.0:0.0	.	420	Q9Y664	KPTN_HUMAN	K	420;180	.	ENSP00000337850:Q420K	Q	-	1	0	KPTN	52670538	0.048000	0.20356	0.004000	0.12327	0.004000	0.04260	2.959000	0.49153	2.003000	0.58678	0.561000	0.74099	CAG		0.612	KPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466672.2			10	20	1	0	3.86e-05	6e-05	10	20				
CRX	1406	broad.mit.edu	37	19	48339545	48339545	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:48339545G>A	ENST00000221996.7	+	3	352	c.146G>A	c.(145-147)aGc>aAc	p.S49N	CRX_ENST00000539067.1_Missense_Mutation_p.S49N|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	49					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCACCCGGAGCCAACTGGAG	0.632																																					Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NA																	0				breast(1)|central_nervous_system(1)	2						c.(145-147)AGC>AAC		cone-rod homeobox protein							77.0	83.0	81.0					19																	48339545		2203	4300	6503	SO:0001583	missense	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48339545G>A	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.146G>A	19.37:g.48339545G>A	ENSP00000221996:p.Ser49Asn					CRX_uc010elm.1_RNA	p.S49N	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	3	350	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	49			Homeobox.		Q0QD45	Missense_Mutation	SNP	ENST00000221996.7	37	c.146G>A	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738152	0.49045	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.96168	-3.93;-3.93	3.67	2.55	0.30701	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.119730	0.53938	D	0.000045	D	0.89753	0.6806	N	0.25380	0.74	0.38173	D	0.939396	P	0.47841	0.901	B	0.41374	0.355	D	0.89203	0.3559	10	0.44086	T	0.13	-15.0804	8.9728	0.35917	0.0:0.3809:0.619:0.0	.	49	O43186	CRX_HUMAN	N	49	ENSP00000221996:S49N;ENSP00000445565:S49N	ENSP00000221996:S49N	S	+	2	0	CRX	53031357	0.896000	0.30565	1.000000	0.80357	0.599000	0.36880	3.859000	0.55987	1.883000	0.54544	0.205000	0.17691	AGC		0.632	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		22	58	0	0	0	0	22	58				
PNKP	11284	broad.mit.edu	37	19	50364538	50364538	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:50364538C>A	ENST00000322344.3	-	17	1642	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000600910.1_3'UTR|AC018766.5_ENST00000593654.1_RNA|PNKP_ENST00000596014.1_Silent_p.L511L|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000599259.1_RNA|PNKP_ENST00000600573.1_Silent_p.L480L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	511	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		ACAGCCGCCCCAGCCTCGGCT	0.622								Other BER factors																														uc002pqh.2		NA																	0				ovary(1)|kidney(1)	2						c.(1531-1533)CTG>CTT	Other_BER_factors	polynucleotide kinase 3' phosphatase							49.0	53.0	52.0					19																	50364538		2203	4300	6503	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50364538C>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1533G>T	19.37:g.50364538C>A						PNKP_uc002pqg.2_Silent_p.L292L|PNKP_uc002pqi.2_Silent_p.L472L|PNKP_uc002pqj.2_Silent_p.L511L|PNKP_uc010enm.2_Silent_p.L480L|PNKP_uc002pqk.2_3'UTR	p.L511L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	16	1585	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	511					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.1533G>T	CCDS12783.1																																																																																				0.622	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		45	80	1	0	1.85e-21	3.77e-21	45	80				
IZUMO2	126123	broad.mit.edu	37	19	50657863	50657863	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:50657863A>G	ENST00000293405.3	-	6	617	c.617T>C	c.(616-618)gTg>gCg	p.V206A		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	206						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TCACGAGACCACGATGACCAC	0.577																																						uc002prp.1		NA																	0					0						c.(616-618)GTG>GCG		hypothetical protein LOC126123 precursor							116.0	134.0	128.0					19																	50657863		2130	4242	6372	SO:0001583	missense	126123					integral to membrane		g.chr19:50657863A>G	AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.617T>C	19.37:g.50657863A>G	ENSP00000293405:p.Val206Ala						p.V206A	NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)	6	704	-		all_neural(266;0.0459)|Ovarian(192;0.0728)	206			Helical; (Potential).		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	c.617T>C	CCDS12792.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.626|8.626	0.892656|0.892656	0.17613|0.17613	.|.	.|.	ENSG00000161652|ENSG00000161652	ENST00000293405|ENST00000377000	T|.	0.51817|.	0.69|.	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	.|.	.|.	.|.	.|.	T|T	0.36413|0.36413	0.0966|0.0966	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	P|.	0.46784|.	0.884|.	B|.	0.35353|.	0.201|.	T|T	0.28235|0.28235	-1.0050|-1.0050	9|6	0.66056|0.87932	D|D	0.02|0	.|.	8.325|8.325	0.32151|0.32151	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	206|.	Q6UXV1|.	IZUM2_HUMAN|.	A|R	206|171	ENSP00000293405:V206A|.	ENSP00000293405:V206A|ENSP00000366199:W171R	V|W	-|-	2|1	0|0	IZUMO2|IZUMO2	55349675|55349675	0.026000|0.026000	0.19158|0.19158	0.007000|0.007000	0.13788|0.13788	0.371000|0.371000	0.29859|0.29859	1.966000|1.966000	0.40481|0.40481	1.746000|1.746000	0.51805|0.51805	0.254000|0.254000	0.18369|0.18369	GTG|TGG		0.577	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358		20	36	0	0	0	0	20	36				
SYT3	84258	broad.mit.edu	37	19	51133373	51133373	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:51133373G>T	ENST00000338916.4	-	3	1363	c.730C>A	c.(730-732)Ccc>Acc	p.P244T	SYT3_ENST00000600079.1_Missense_Mutation_p.P244T|SYT3_ENST00000593901.1_Missense_Mutation_p.P244T|SYT3_ENST00000544769.1_Missense_Mutation_p.P244T	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	244					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCACTGCTGGGGTCCGGCTGG	0.642																																						uc002pst.2		NA																	0				ovary(2)|breast(1)	3						c.(730-732)CCC>ACC		synaptotagmin III							25.0	26.0	26.0					19																	51133373		2203	4300	6503	SO:0001583	missense	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51133373G>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.730C>A	19.37:g.51133373G>T	ENSP00000340914:p.Pro244Thr					SYT3_uc002psv.2_Missense_Mutation_p.P244T|SYT3_uc010ycd.1_Missense_Mutation_p.P244T	p.P244T	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	3	1364	-		all_neural(266;0.131)	244			Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Missense_Mutation	SNP	ENST00000338916.4	37	c.730C>A	CCDS12798.1	.	.	.	.	.	.	.	.	.	.	G	4.577	0.107210	0.08780	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.59638	0.25;0.25	4.29	0.873	0.19118	.	0.401360	0.22649	U	0.057349	T	0.31451	0.0797	N	0.08118	0	0.31128	N	0.708057	B	0.17038	0.02	B	0.12156	0.007	T	0.16541	-1.0399	10	0.49607	T	0.09	.	6.3804	0.21531	0.1011:0.3584:0.5405:0.0	.	244	Q9BQG1	SYT3_HUMAN	T	244	ENSP00000340914:P244T;ENSP00000438883:P244T	ENSP00000340914:P244T	P	-	1	0	SYT3	55825185	0.005000	0.15991	0.274000	0.24659	0.449000	0.32228	-0.241000	0.08940	0.179000	0.19938	0.655000	0.94253	CCC		0.642	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		9	25	1	0	2.18e-05	3.43e-05	9	25				
GPR32	2854	broad.mit.edu	37	19	51274592	51274592	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:51274592G>T	ENST00000270590.4	+	1	872	c.735G>T	c.(733-735)cgG>cgT	p.R245R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTCTTGCGGGAGGGCTGGG	0.602																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.1		NA																	0				upper_aerodigestive_tract(1)	1						c.(733-735)CGG>CGT		G protein-coupled receptor 32							48.0	52.0	51.0					19																	51274592		2203	4294	6497	SO:0001819	synonymous_variant	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274592G>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.735G>T	19.37:g.51274592G>T							p.R245R	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	735	+		all_neural(266;0.131)	245			Cytoplasmic (Potential).		Q502U7|Q6NWS5	Silent	SNP	ENST00000270590.4	37	c.735G>T	CCDS12801.1																																																																																				0.602	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			20	49	1	0	4.63e-17	9.15e-17	20	49				
CEACAM18	729767	broad.mit.edu	37	19	51984682	51984682	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:51984682A>G	ENST00000396477.4	+	3	457	c.436A>G	c.(436-438)Agc>Ggc	p.S146G	CEACAM18_ENST00000451626.1_Missense_Mutation_p.S207G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	146										breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CGTCAATGCCAGCTCCCTGGT	0.502																																						uc002pwv.1		NA																	0				skin(1)	1						c.(619-621)AGC>GGC		carcinoembryonic antigen-related cell adhesion							62.0	60.0	61.0					19																	51984682		2026	4177	6203	SO:0001583	missense	729767					integral to membrane		g.chr19:51984682A>G			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9		ENST00000396477.4:c.436A>G	19.37:g.51984682A>G	ENSP00000379738:p.Ser146Gly						p.S207G	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	619	+		all_neural(266;0.0529)	207					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.619A>G		.	.	.	.	.	.	.	.	.	.	.	9.814	1.183867	0.21870	.	.	ENSG00000213822	ENST00000451626;ENST00000451086;ENST00000396477	T	0.05786	3.39	2.82	2.82	0.32997	.	.	.	.	.	T	0.09335	0.0230	M	0.74546	2.27	0.09310	N	1	B	0.17852	0.024	B	0.14578	0.011	T	0.13469	-1.0508	9	0.38643	T	0.18	-9.5301	7.5072	0.27551	1.0:0.0:0.0:0.0	.	207	A8MTB9	CEA18_HUMAN	G	207;146;146	ENSP00000402203:S207G	ENSP00000379738:S146G	S	+	1	0	CEACAM18	56676494	0.002000	0.14202	0.006000	0.13384	0.033000	0.12548	1.418000	0.34782	1.554000	0.49487	0.456000	0.33151	AGC		0.502	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2			13	35	0	0	0	0	13	35				
PRKCG	5582	broad.mit.edu	37	19	54401341	54401341	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54401341T>C	ENST00000263431.3	+	10	1350	c.1068T>C	c.(1066-1068)gtT>gtC	p.V356V	PRKCG_ENST00000540413.1_Silent_p.V356V|PRKCG_ENST00000536044.1_Missense_Mutation_p.F327S|PRKCG_ENST00000542049.1_Silent_p.V243V	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	356	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	TCCTCATGGTTCTAGGAAAAG	0.572																																						uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1066-1068)GTT>GTC		protein kinase C, gamma							42.0	40.0	41.0					19																	54401341		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401341T>C	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1068T>C	19.37:g.54401341T>C						PRKCG_uc010yef.1_Missense_Mutation_p.F327S|PRKCG_uc010yeg.1_Silent_p.V356V|PRKCG_uc010yeh.1_Silent_p.V243V	p.V356V	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	10	1350	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		356			Protein kinase.		B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.1068T>C	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.984789	0.53934	.	.	ENSG00000126583	ENST00000536044	T	0.77489	-1.1	5.14	-1.16	0.09678	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55341	-0.8156	8	0.87932	D	0	.	5.9155	0.19052	0.0:0.3229:0.2065:0.4706	.	327	B7Z870	.	S	327	ENSP00000440541:F327S	ENSP00000440541:F327S	F	+	2	0	PRKCG	59093153	0.912000	0.30974	0.970000	0.41538	0.996000	0.88848	-0.150000	0.10189	-0.162000	0.10964	0.397000	0.26171	TTC		0.572	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		19	42	0	0	0	0	19	42				
PRKCG	5582	broad.mit.edu	37	19	54403889	54403889	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54403889G>A	ENST00000263431.3	+	14	1743	c.1461G>A	c.(1459-1461)atG>atA	p.M487I	PRKCG_ENST00000540413.1_Missense_Mutation_p.M487I|PRKCG_ENST00000542049.1_Missense_Mutation_p.M374I	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	487	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	ACAATGTGATGCTGGATGCTG	0.542																																						uc002qcq.1		NA																	0				lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1459-1461)ATG>ATA		protein kinase C, gamma							176.0	166.0	170.0					19																	54403889		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54403889G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1461G>A	19.37:g.54403889G>A	ENSP00000263431:p.Met487Ile					PRKCG_uc010yeg.1_Missense_Mutation_p.M487I|PRKCG_uc010yeh.1_Missense_Mutation_p.M374I	p.M487I	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	14	1743	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		487			Protein kinase.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.1461G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095256	0.76870	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.65732	-0.17;-0.17;-0.17	4.37	4.37	0.52481	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.71358	0.3330	L	0.45470	1.425	0.50813	D	0.999894	B;D;D	0.57899	0.152;0.977;0.981	B;P;D	0.63957	0.048;0.826;0.92	T	0.75144	-0.3421	9	0.87932	D	0	.	14.805	0.69945	0.0:0.0:1.0:0.0	.	374;487;487	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	I	487;487;374	ENSP00000443493:M487I;ENSP00000263431:M487I;ENSP00000438090:M374I	ENSP00000263431:M487I	M	+	3	0	PRKCG	59095701	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.743000	0.85020	2.159000	0.67721	0.561000	0.74099	ATG		0.542	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		70	129	0	0	0	0	70	129				
LILRA6	79168	broad.mit.edu	37	19	54742904	54742904	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54742904G>T	ENST00000396365.2	-	8	1410	c.1371C>A	c.(1369-1371)gtC>gtA	p.V457V	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Silent_p.V440V	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	457					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAACACCAGGACCAAGCCTG	0.577																																						uc002qeu.1		NA																	0				skin(2)	2						c.(1369-1371)GTC>GTA		leukocyte immunoglobulin-like receptor,							116.0	105.0	109.0					19																	54742904		2176	4299	6475	SO:0001819	synonymous_variant	79168					integral to membrane	receptor activity	g.chr19:54742904G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1371C>A	19.37:g.54742904G>T						LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRA6_uc002qek.1_Intron|LILRB3_uc010erh.1_Intron|LILRB3_uc002qej.1_Intron|LILRA6_uc002qel.1_Intron|LILRA6_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRA6_uc010yep.1_Intron|LILRA6_uc010yeq.1_Intron|LILRA6_uc002qet.3_RNA|LILRA6_uc002qev.1_Silent_p.V301V	p.V457V	NM_024318	NP_077294	Q6PI73	LIRA6_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	8	1495	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		457			Helical; (Potential).			Silent	SNP	ENST00000396365.2	37	c.1371C>A	CCDS42610.1																																																																																				0.577	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		19	55	1	0	1.34e-09	2.36e-09	19	55				
LILRA4	23547	broad.mit.edu	37	19	54848235	54848235	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54848235C>A	ENST00000291759.4	-	6	1188	c.1132G>T	c.(1132-1134)Gct>Tct	p.A378S	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	378	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGGAATTCAGCCTGGTACTTA	0.587																																						uc002qfj.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(1132-1134)GCT>TCT		leukocyte immunoglobulin-like receptor subfamily							174.0	155.0	161.0					19																	54848235		2203	4300	6503	SO:0001583	missense	23547					integral to membrane	receptor activity	g.chr19:54848235C>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1132G>T	19.37:g.54848235C>A	ENSP00000291759:p.Ala378Ser					LILRA4_uc002qfi.2_Missense_Mutation_p.A312S	p.A378S	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1189	-	Ovarian(34;0.19)		378			Ig-like C2-type 4.|Extracellular (Potential).		Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	c.1132G>T	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	14.54	2.566329	0.45694	.	.	ENSG00000239961	ENST00000291759	T	0.02631	4.22	2.51	2.51	0.30379	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.180567	0.26463	N	0.024221	T	0.14874	0.0359	M	0.88310	2.945	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.01071	-1.1461	10	0.59425	D	0.04	.	8.6218	0.33866	0.0:1.0:0.0:0.0	.	378	P59901	LIRA4_HUMAN	S	378	ENSP00000291759:A378S	ENSP00000291759:A378S	A	-	1	0	LILRA4	59540047	0.008000	0.16893	0.090000	0.20809	0.044000	0.14063	0.839000	0.27586	1.718000	0.51419	0.455000	0.32223	GCT		0.587	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		51	158	1	0	1.21e-23	2.52e-23	51	158				
LILRB1	10859	broad.mit.edu	37	19	55146717	55146717	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:55146717C>A	ENST00000396331.1	+	13	1924	c.1567C>A	c.(1567-1569)Cca>Aca	p.P523T	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.P524T|LILRB1_ENST00000396315.1_Missense_Mutation_p.P524T|LILRB1_ENST00000418536.2_Missense_Mutation_p.P507T|LILRB1_ENST00000396321.2_Missense_Mutation_p.P523T|LILRB1_ENST00000324602.7_Missense_Mutation_p.P524T|LILRB1_ENST00000396317.1_Missense_Mutation_p.P507T|LILRB1_ENST00000434867.2_Missense_Mutation_p.P523T|LILRB1_ENST00000396332.4_Missense_Mutation_p.P523T|LILRB1_ENST00000427581.2_Missense_Mutation_p.P573T|LILRB1_ENST00000448689.1_Silent_p.A497A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	523					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGTCCAGCCCAGCTGCCGA	0.607										HNSCC(37;0.09)																												uc002qgj.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1567-1569)CCA>ACA		leukocyte immunoglobulin-like receptor,							63.0	71.0	68.0					19																	55146717		2203	4294	6497	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146717C>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1567C>A	19.37:g.55146717C>A	ENSP00000379622:p.Pro523Thr	HNSCC(37;0.09)				LILRB1_uc010erp.1_Missense_Mutation_p.P138T|LILRB1_uc002qgl.2_Missense_Mutation_p.P523T|LILRB1_uc002qgk.2_Missense_Mutation_p.P524T|LILRB1_uc002qgm.2_Missense_Mutation_p.P524T|LILRB1_uc010erq.2_Missense_Mutation_p.P507T|LILRB1_uc010err.2_RNA	p.P523T	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	13	1907	+			523			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1567C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	11.00	1.511242	0.27036	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00551	6.88;6.82;6.88;6.69;6.75;6.88;6.88;6.65;6.82;6.75	1.35	1.35	0.21983	.	.	.	.	.	T	0.02047	0.0064	M	0.87456	2.885	0.09310	N	1	B;B;D;D;D;D	0.89917	0.409;0.23;1.0;0.992;1.0;1.0	B;B;D;P;D;D	0.91635	0.118;0.082;0.999;0.88;0.983;0.987	T	0.36768	-0.9734	9	0.87932	D	0	.	6.0779	0.19925	0.0:1.0:0.0:0.0	.	507;523;524;523;524;523	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	T	523;507;523;524;524;523;523;573;507;524	ENSP00000379614:P523T;ENSP00000391514:P507T;ENSP00000379622:P523T;ENSP00000379618:P524T;ENSP00000315997:P524T;ENSP00000405243:P523T;ENSP00000379623:P523T;ENSP00000395004:P573T;ENSP00000379610:P507T;ENSP00000379608:P524T	ENSP00000315997:P524T	P	+	1	0	LILRB1	59838529	0.011000	0.17503	0.168000	0.22838	0.033000	0.12548	1.035000	0.30216	1.046000	0.40249	0.205000	0.17691	CCA		0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			15	77	1	0	0.000422831	0.00063337	15	77				
NCR1	9437	broad.mit.edu	37	19	55417664	55417664	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:55417664T>A	ENST00000291890.4	+	2	80	c.42T>A	c.(40-42)tgT>tgA	p.C14*	NCR1_ENST00000350790.5_Nonsense_Mutation_p.C14*|NCR1_ENST00000447255.1_Nonsense_Mutation_p.C14*|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000594765.1_Nonsense_Mutation_p.C14*|NCR1_ENST00000598576.1_Intron|NCR1_ENST00000338835.5_Nonsense_Mutation_p.C14*	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	14					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CAGGGCTGTGTCTGAGTCAGA	0.612																																						uc002qib.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(40-42)TGT>TGA		natural cytotoxicity triggering receptor 1							109.0	89.0	96.0					19																	55417664		2203	4300	6503	SO:0001587	stop_gained	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55417664T>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.42T>A	19.37:g.55417664T>A	ENSP00000291890:p.Cys14*					NCR1_uc002qic.2_Nonsense_Mutation_p.C14*|NCR1_uc002qie.2_Nonsense_Mutation_p.C14*|NCR1_uc002qid.2_Nonsense_Mutation_p.C14*|NCR1_uc002qif.2_Nonsense_Mutation_p.C14*|NCR1_uc010esj.2_Intron	p.C14*	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	2	80	+			14					B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Nonsense_Mutation	SNP	ENST00000291890.4	37	c.42T>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	T	35	5.462344	0.96240	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790	.	.	.	3.31	-0.00503	0.14019	.	0.885699	0.09766	N	0.758566	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	3.1989	0.06643	0.0:0.2418:0.2163:0.5419	.	.	.	.	X	14	.	ENSP00000291890:C14X	C	+	3	2	NCR1	60109476	0.030000	0.19436	0.981000	0.43875	0.896000	0.52359	0.251000	0.18257	-0.081000	0.12662	0.528000	0.53228	TGT		0.612	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			14	56	0	0	0	0	14	56				
NLRP4	147945	broad.mit.edu	37	19	56370017	56370017	+	Silent	SNP	C	C	A	rs140509890	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:56370017C>A	ENST00000301295.6	+	3	1680	c.1258C>A	c.(1258-1260)Cgg>Agg	p.R420R	NLRP4_ENST00000587891.1_Silent_p.R345R|NLRP4_ENST00000346986.5_Silent_p.R420R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	420	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R420W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGACGACCTCCGGAGAAATGG	0.582																																						uc002qmd.3		NA																	1	Substitution - Missense(1)	p.R420Q(1)	large_intestine(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1258-1260)CGG>AGG		NLR family, pyrin domain containing 4							107.0	106.0	106.0					19																	56370017		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56370017C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1258C>A	19.37:g.56370017C>A						NLRP4_uc002qmf.2_Silent_p.R345R|NLRP4_uc010etf.2_Silent_p.R251R	p.R420R	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	1680	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	420			NACHT.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.1258C>A	CCDS12936.1																																																																																				0.582	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		32	104	1	0	4.75e-14	9.02e-14	32	104				
NLRP4	147945	broad.mit.edu	37	19	56372754	56372754	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:56372754C>A	ENST00000301295.6	+	4	2281	c.1859C>A	c.(1858-1860)tCg>tAg	p.S620*	NLRP4_ENST00000587891.1_Nonsense_Mutation_p.S545*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.S620*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	620					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GACCACAGGTCGGATTACAGC	0.552																																						uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1858-1860)TCG>TAG		NLR family, pyrin domain containing 4							113.0	88.0	96.0					19																	56372754		2203	4300	6503	SO:0001587	stop_gained	147945						ATP binding	g.chr19:56372754C>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1859C>A	19.37:g.56372754C>A	ENSP00000301295:p.Ser620*					NLRP4_uc002qmf.2_Nonsense_Mutation_p.S545*|NLRP4_uc010etf.2_Nonsense_Mutation_p.S451*	p.S620*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	4	2281	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	620					Q86W87|Q96AY6	Nonsense_Mutation	SNP	ENST00000301295.6	37	c.1859C>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	39	7.649562	0.98412	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.3	-0.278	0.12894	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	2.8171	0.05459	0.2124:0.4498:0.0:0.3378	.	.	.	.	X	620	.	ENSP00000301295:S620X	S	+	2	0	NLRP4	61064566	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.196000	0.17176	0.162000	0.19483	0.655000	0.94253	TCG		0.552	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		16	25	1	0	1.57e-10	2.84e-10	16	25				
NLRP4	147945	broad.mit.edu	37	19	56382227	56382227	+	Missense_Mutation	SNP	G	G	A	rs548667642	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:56382227G>A	ENST00000301295.6	+	7	2811	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	NLRP4_ENST00000587891.1_Missense_Mutation_p.E722K|NLRP4_ENST00000346986.5_Missense_Mutation_p.E741K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	797					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCAGTGCTGCGAATACATCTC	0.512													g|||	2	0.000399361	0.0	0.0	5008	,	,		19772	0.0		0.0	False		,,,				2504	0.002					uc002qmd.3		NA																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2389-2391)GAA>AAA		NLR family, pyrin domain containing 4							157.0	133.0	142.0					19																	56382227		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56382227G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2389G>A	19.37:g.56382227G>A	ENSP00000301295:p.Glu797Lys					NLRP4_uc002qmf.2_Missense_Mutation_p.E722K|NLRP4_uc010etf.2_Missense_Mutation_p.E572K	p.E797K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	7	2811	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	797					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2389G>A	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	g	9.675	1.147684	0.21288	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.52057	0.68;0.96	3.94	-1.27	0.09347	.	.	.	.	.	T	0.23094	0.0558	N	0.21142	0.635	0.09310	N	1	B;B;B	0.28820	0.224;0.169;0.105	B;B;B	0.20184	0.023;0.028;0.012	T	0.25813	-1.0121	9	0.02654	T	1	.	7.2321	0.26049	0.1044:0.5188:0.3768:0.0	.	741;722;797	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	797;741	ENSP00000301295:E797K;ENSP00000344787:E741K	ENSP00000301295:E797K	E	+	1	0	NLRP4	61074039	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.052000	0.11865	0.101000	0.17610	-0.127000	0.14921	GAA		0.512	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		25	51	0	0	0	0	25	51				
PEG3	5178	broad.mit.edu	37	19	57335011	57335011	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:57335011A>T	ENST00000326441.9	-	5	794	c.431T>A	c.(430-432)aTg>aAg	p.M144K	ZIM2_ENST00000599935.1_Missense_Mutation_p.M18K|ZIM2_ENST00000391708.3_Missense_Mutation_p.M18K|PEG3_ENST00000598410.1_Missense_Mutation_p.M18K|PEG3_ENST00000593695.1_Missense_Mutation_p.M18K|PEG3_ENST00000423103.2_Missense_Mutation_p.M144K|ZIM2_ENST00000593931.1_Missense_Mutation_p.M18K|PEG3_ENST00000594706.1_5'Flank|ZIM2_ENST00000221722.5_Missense_Mutation_p.M18K|ZIM2_ENST00000601070.1_Missense_Mutation_p.M18K|ZIM2_ENST00000593711.1_Missense_Mutation_p.M18K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	144					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTCCGGGTCATGTCGTCGTC	0.552																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(430-432)ATG>AAG		paternally expressed 3 isoform 1							307.0	223.0	251.0					19																	57335011		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57335011A>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.431T>A	19.37:g.57335011A>T	ENSP00000326581:p.Met144Lys					ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_Missense_Mutation_p.M18K|ZIM2_uc002qnq.2_Missense_Mutation_p.M18K|ZIM2_uc010etp.2_Missense_Mutation_p.M18K|ZIM2_uc010ygs.1_Missense_Mutation_p.M18K|PEG3_uc002qnt.2_Missense_Mutation_p.M144K|PEG3_uc002qnv.2_Missense_Mutation_p.M144K|PEG3_uc002qnw.2_Missense_Mutation_p.M18K|PEG3_uc002qnx.2_Missense_Mutation_p.M18K|PEG3_uc010etr.2_Missense_Mutation_p.M144K	p.M144K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	2	782	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	144					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.431T>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.321222	0.23994	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.06608	3.28;3.28;4.14;4.14	4.29	0.936	0.19488	Transcription regulator SCAN (1);	0.598474	0.16062	N	0.231457	T	0.04318	0.0119	L	0.34521	1.04	.	.	.	P;P;P;B	0.35575	0.51;0.51;0.51;0.267	B;B;B;B	0.29077	0.067;0.058;0.098;0.086	T	0.23904	-1.0175	9	0.87932	D	0	-11.175	5.234	0.15437	0.6267:0.2756:0.0977:0.0	.	18;144;77;18	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	K	18;18;144;144;144	ENSP00000375589:M18K;ENSP00000221722:M18K;ENSP00000326581:M144K;ENSP00000403051:M144K	ENSP00000221722:M18K	M	-	2	0	ZIM2	62026823	0.623000	0.27094	0.043000	0.18650	0.006000	0.05464	1.202000	0.32271	0.078000	0.16900	-0.290000	0.09829	ATG		0.552	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			29	62	0	0	0	0	29	62				
USP29	57663	broad.mit.edu	37	19	57641686	57641686	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:57641686C>T	ENST00000254181.4	+	4	2097	c.1643C>T	c.(1642-1644)cCt>cTt	p.P548L	USP29_ENST00000598197.1_Missense_Mutation_p.P548L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	548	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACCAAACCACCTCTTCCCTTG	0.418																																						uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(1642-1644)CCT>CTT		ubiquitin specific peptidase 29							139.0	149.0	146.0					19																	57641686		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57641686C>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1643C>T	19.37:g.57641686C>T	ENSP00000254181:p.Pro548Leu						p.P548L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1999	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	548						Missense_Mutation	SNP	ENST00000254181.4	37	c.1643C>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545503	0.27652	.	.	ENSG00000131864	ENST00000254181	T	0.28895	1.59	2.52	1.47	0.22746	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.44097	U	0.000499	T	0.26810	0.0656	L	0.39898	1.24	0.43550	D	0.995854	D	0.53462	0.96	P	0.47015	0.534	T	0.03933	-1.0991	10	0.87932	D	0	-6.1394	7.5666	0.27883	0.0:0.8603:0.0:0.1396	.	548	Q9HBJ7	UBP29_HUMAN	L	548	ENSP00000254181:P548L	ENSP00000254181:P548L	P	+	2	0	USP29	62333498	0.387000	0.25188	0.034000	0.17996	0.111000	0.19643	2.677000	0.46892	0.587000	0.29643	0.467000	0.42956	CCT		0.418	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			52	143	0	0	0	0	52	143				
ZNF324B	388569	broad.mit.edu	37	19	58967712	58967712	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:58967712G>T	ENST00000336614.4	+	4	1508	c.1401G>T	c.(1399-1401)gtG>gtT	p.V467V	ZNF324B_ENST00000545523.1_Silent_p.V467V|ZNF324B_ENST00000391696.1_Silent_p.V457V	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	467					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(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGGCGCCGTGCTGCTCAGCC	0.682																																						uc002qsv.1		NA																	0				ovary(1)	1						c.(1399-1401)GTG>GTT		zinc finger protein 324B							54.0	58.0	57.0					19																	58967712		2203	4299	6502	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967712G>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1401G>T	19.37:g.58967712G>T						ZNF324B_uc002qsu.1_Silent_p.V457V|ZNF324B_uc010euq.1_Silent_p.V467V	p.V467V	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1508	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	467			C2H2-type 8.		B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.1401G>T	CCDS33138.1																																																																																				0.682	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		23	68	1	0	1.23e-08	2.12e-08	23	68				
TPO	7173	broad.mit.edu	37	2	1480964	1480964	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1480964C>A	ENST00000345913.4	+	8	1017	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	TPO_ENST00000382198.1_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.S309Y|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.S309Y|TPO_ENST00000329066.4_Missense_Mutation_p.S309Y|TPO_ENST00000382201.3_Missense_Mutation_p.S309Y|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	309					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAACCTGTCCACGGCCAAC	0.706																																						uc002qww.2		NA																	0				ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20						c.(925-927)TCC>TAC		thyroid peroxidase isoform a	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						18.0	18.0	18.0					2																	1480964		2201	4293	6494	SO:0001583	missense	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1480964C>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.926C>A	2.37:g.1480964C>A	ENSP00000318820:p.Ser309Tyr					TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.S309Y|TPO_uc002qwr.2_Missense_Mutation_p.S309Y|TPO_uc002qwx.2_Missense_Mutation_p.S309Y|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.S309Y	p.S309Y	NM_000547	NP_000538	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	8	1017	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	309			Extracellular (Potential).		P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	37	c.926C>A	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.029587	0.35797	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000329066;ENST00000382201;ENST00000422464	T;T;T;T;T;T	0.70516	-0.46;-0.48;-0.43;-0.48;-0.37;-0.49	4.99	3.09	0.35607	.	0.591077	0.18636	N	0.135449	D	0.82481	0.5046	M	0.80746	2.51	0.80722	D	1	D;D;D	0.56968	0.973;0.973;0.978	P;P;P	0.60682	0.807;0.807;0.878	D	0.85593	0.1247	10	0.87932	D	0	-29.965	15.1614	0.72788	0.0:0.7331:0.2669:0.0	.	309;309;309	P07202-4;P07202-2;P07202	.;.;PERT_HUMAN	Y	309;309;309;309;309;238	ENSP00000337263:S309Y;ENSP00000318820:S309Y;ENSP00000263886:S309Y;ENSP00000329869:S309Y;ENSP00000371636:S309Y;ENSP00000405788:S238Y	ENSP00000329869:S309Y	S	+	2	0	TPO	1459971	0.051000	0.20477	0.738000	0.30950	0.017000	0.09413	1.705000	0.37867	1.081000	0.41110	0.460000	0.39030	TCC		0.706	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		9	25	1	0	7.48e-07	1.24e-06	9	25				
PXDN	7837	broad.mit.edu	37	2	1658260	1658260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1658260C>A	ENST00000252804.4	-	15	1908	c.1858G>T	c.(1858-1860)Gga>Tga	p.G620*		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	620					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACGGATCTCCATTTCGACTG	0.428																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(1858-1860)GGA>TGA		peroxidasin precursor							99.0	95.0	96.0					2																	1658260		1951	4149	6100	SO:0001587	stop_gained	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1658260C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1858G>T	2.37:g.1658260C>A	ENSP00000252804:p.Gly620*					PXDN_uc002qxb.1_Nonsense_Mutation_p.G620*	p.G620*	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	15	1922	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	620					A8QM65|D6W4Y0|Q4KMG2	Nonsense_Mutation	SNP	ENST00000252804.4	37	c.1858G>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	7.943707|7.943707	0.98574|0.98574	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804|ENST00000433670	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75095	.|0.3803	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73603	.|-0.3930	.|3	0.56958|.	D|.	0.05|.	-45.4365|-45.4365	18.815|18.815	0.92073|0.92073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	620|615	.|.	ENSP00000252804:G620X|.	G|M	-|-	1|3	0|0	PXDN|PXDN	1637267|1637267	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.616000|0.616000	0.37450|0.37450	7.392000|7.392000	0.79840|0.79840	2.555000|2.555000	0.86185|0.86185	0.478000|0.478000	0.44815|0.44815	GGA|ATG		0.428	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		15	32	1	0	7.93e-07	1.31e-06	15	32				
PXDN	7837	broad.mit.edu	37	2	1680770	1680770	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1680770C>T	ENST00000252804.4	-	8	827	c.777G>A	c.(775-777)tcG>tcA	p.S259S	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	259	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGTGTTCCCCGAGGTCACAT	0.532																																						uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(775-777)TCG>TCA		peroxidasin precursor							60.0	68.0	66.0					2																	1680770		1981	4157	6138	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1680770C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.777G>A	2.37:g.1680770C>T						PXDN_uc002qxb.1_Silent_p.S259S|PXDN_uc002qxc.1_Silent_p.S76S	p.S259S	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	8	841	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	259			Ig-like C2-type 1.		A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.777G>A	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.871|5.871	0.344949|0.344949	0.11126|0.11126	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000447941|ENST00000433670	.|.	.|.	.|.	4.77|4.77	-9.54|-9.54	0.00572|0.00572	.|.	.|.	.|.	.|.	.|.	T|T	0.33498|0.33498	0.0865|0.0865	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39840|0.39840	-0.9594|-0.9594	4|4	.|.	.|.	.|.	-4.5439|-4.5439	2.0388|2.0388	0.03545|0.03545	0.2174:0.1624:0.1437:0.4765|0.2174:0.1624:0.1437:0.4765	.|.	.|.	.|.	.|.	R|Q	183|255	.|.	.|.	G|R	-|-	1|2	0|0	PXDN|PXDN	1659777|1659777	0.000000|0.000000	0.05858|0.05858	0.007000|0.007000	0.13788|0.13788	0.703000|0.703000	0.40648|0.40648	-2.272000|-2.272000	0.01165|0.01165	-2.439000|-2.439000	0.00551|0.00551	0.449000|0.449000	0.29647|0.29647	GGG|CGG		0.532	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		6	14	0	0	0	0	6	14				
MYT1L	23040	broad.mit.edu	37	2	1890319	1890319	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1890319T>A	ENST00000399161.2	-	18	3450	c.2703A>T	c.(2701-2703)caA>caT	p.Q901H	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q899H	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	901					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTTGAGTTCTTGGGAGCTGG	0.433																																						uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(2701-2703)CAA>CAT		myelin transcription factor 1-like							52.0	53.0	53.0					2																	1890319		1851	4099	5950	SO:0001583	missense	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1890319T>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2703A>T	2.37:g.1890319T>A	ENSP00000382114:p.Gln901His					MYT1L_uc002qxd.2_Missense_Mutation_p.Q899H|MYT1L_uc010ewl.1_RNA	p.Q901H	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	18	3530	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	901					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	ENST00000399161.2	37	c.2703A>T		.	.	.	.	.	.	.	.	.	.	T	18.23	3.576984	0.65878	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.49720	0.77;0.77	5.66	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.85130	0.994;0.997	T	0.65311	-0.6199	10	0.54805	T	0.06	-26.9277	11.5347	0.50631	0.0:0.0699:0.0:0.9301	.	901;899	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	H	901;847;899	ENSP00000382114:Q901H;ENSP00000396103:Q899H	ENSP00000295067:Q847H	Q	-	3	2	MYT1L	1869326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.420000	0.52735	0.979000	0.38497	0.533000	0.62120	CAA		0.433	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		18	42	0	0	0	0	18	42				
MYT1L	23040	broad.mit.edu	37	2	1914014	1914014	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:1914014G>A	ENST00000399161.2	-	13	2562	c.1815C>T	c.(1813-1815)ctC>ctT	p.L605L	MYT1L_ENST00000428368.2_Silent_p.L603L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	605					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTGGGTACCTGAGCACGCGGT	0.637																																						uc002qxe.2		NA																	0				ovary(5)|central_nervous_system(1)	6						c.(1813-1815)CTC>CTT		myelin transcription factor 1-like							45.0	54.0	51.0					2																	1914014		2105	4211	6316	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1914014G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1815C>T	2.37:g.1914014G>A						MYT1L_uc002qxd.2_Silent_p.L603L|MYT1L_uc010ewl.1_RNA	p.L605L	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	13	2642	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	605					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.1815C>T																																																																																					0.637	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		5	37	0	0	0	0	5	37				
ADAM17	6868	broad.mit.edu	37	2	9666299	9666299	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:9666299C>G	ENST00000310823.3	-	6	876	c.694G>C	c.(694-696)Gat>Cat	p.D232H	ADAM17_ENST00000497134.1_Missense_Mutation_p.D232H	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	232	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		AAGCGATGATCTGCTACCACC	0.358																																						uc002qzu.2		NA																	0				lung(1)|kidney(1)	2						c.(694-696)GAT>CAT		a disintegrin and metalloprotease domain 17							234.0	212.0	220.0					2																	9666299		2203	4300	6503	SO:0001583	missense	6868				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding	g.chr2:9666299C>G	U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.694G>C	2.37:g.9666299C>G	ENSP00000309968:p.Asp232His					ADAM17_uc010ewy.2_Missense_Mutation_p.D232H|ADAM17_uc010ewz.2_Intron|ADAM17_uc010exa.2_5'Flank|ADAM17_uc010exb.1_3'UTR	p.D232H	NM_003183	NP_003174	P78536	ADA17_HUMAN		Epithelial(75;0.225)	6	877	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		232			Peptidase M12B.|Extracellular (Potential).		O60226	Missense_Mutation	SNP	ENST00000310823.3	37	c.694G>C	CCDS1665.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024892	0.93518	.	.	ENSG00000151694	ENST00000310823;ENST00000497134;ENST00000538558	D;D	0.95482	-3.72;-3.72	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.000000	0.85682	D	0.000000	D	0.98451	0.9484	M	0.93150	3.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99060	1.0830	10	0.87932	D	0	.	19.8857	0.96911	0.0:1.0:0.0:0.0	.	232;232	B2RNB2;P78536	.;ADA17_HUMAN	H	232	ENSP00000309968:D232H;ENSP00000418728:D232H	ENSP00000309968:D232H	D	-	1	0	ADAM17	9583750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.380000	0.79704	2.771000	0.95319	0.650000	0.86243	GAT		0.358	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1			35	92	0	0	0	0	35	92				
GREB1	9687	broad.mit.edu	37	2	11702672	11702672	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:11702672C>G	ENST00000381486.2	+	3	541	c.241C>G	c.(241-243)Ctg>Gtg	p.L81V	GREB1_ENST00000234142.5_Missense_Mutation_p.L81V|RNU2-13P_ENST00000515909.1_RNA|GREB1_ENST00000263834.5_Missense_Mutation_p.L81V|GREB1_ENST00000381483.2_Missense_Mutation_p.L81V|GREB1_ENST00000389825.3_5'UTR|RNA5SP85_ENST00000365378.1_RNA	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	81						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCTTTCCAGCTGCACCCTCT	0.612																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(241-243)CTG>GTG		growth regulation by estrogen in breast cancer 1							147.0	121.0	130.0					2																	11702672		2203	4300	6503	SO:0001583	missense	9687					integral to membrane		g.chr2:11702672C>G		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.241C>G	2.37:g.11702672C>G	ENSP00000370896:p.Leu81Val					GREB1_uc002rbl.2_Missense_Mutation_p.L81V|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.L81V	p.L81V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	3	541	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		81					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.241C>G	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626677	0.28978	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.17528	3.27;2.27;2.28;3.27	5.36	4.33	0.51752	.	0.051135	0.85682	D	0.000000	T	0.13372	0.0324	L	0.29908	0.895	0.34204	D	0.673524	B;B;B	0.30914	0.002;0.3;0.0	B;B;B	0.33454	0.011;0.164;0.002	T	0.21008	-1.0258	10	0.30078	T	0.28	-35.6263	10.9406	0.47270	0.7427:0.2573:0.0:0.0	.	81;81;81	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	V	81	ENSP00000370896:L81V;ENSP00000263834:L81V;ENSP00000370892:L81V;ENSP00000234142:L81V	ENSP00000234142:L81V	L	+	1	2	GREB1	11620123	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	1.955000	0.40372	1.071000	0.40834	0.555000	0.69702	CTG		0.612	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		29	87	0	0	0	0	29	87				
NBAS	51594	broad.mit.edu	37	2	15470842	15470842	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:15470842C>A	ENST00000281513.5	-	36	4252	c.4227G>T	c.(4225-4227)tgG>tgT	p.W1409C	NBAS_ENST00000441750.1_Missense_Mutation_p.W1289C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1409					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGCAGTGGTCCAGCGCAATA	0.468																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(4225-4227)TGG>TGT		neuroblastoma-amplified protein							183.0	158.0	166.0					2																	15470842		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15470842C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4227G>T	2.37:g.15470842C>A	ENSP00000281513:p.Trp1409Cys					NBAS_uc010exl.1_Missense_Mutation_p.W481C|NBAS_uc002rcd.1_RNA	p.W1409C	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			36	4253	-			1409					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4227G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.68|16.68	3.190925|3.190925	0.58017|0.58017	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513	.|T;T	.|0.10005	.|2.92;3.09	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.053922	.|0.85682	.|D	.|0.000000	T|T	0.30759|0.30759	0.0775|0.0775	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.77004	.|0.989;0.907	T|T	0.01074|0.01074	-1.1460|-1.1460	5|10	.|0.87932	.|D	.|0	.|.	11.839|11.839	0.52342|0.52342	0.0:0.9191:0.0:0.0809|0.0:0.9191:0.0:0.0809	.|.	.|1289;1409	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	V|C	457|1289;1409	.|ENSP00000413201:W1289C;ENSP00000281513:W1409C	.|ENSP00000281513:W1409C	G|W	-|-	2|3	0|0	NBAS|NBAS	15388293|15388293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	3.154000|3.154000	0.50693|0.50693	2.621000|2.621000	0.88768|0.88768	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.468	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		19	57	1	0	2.46e-09	4.32e-09	19	57				
APOB	338	broad.mit.edu	37	2	21230042	21230042	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:21230042T>C	ENST00000233242.1	-	26	9825	c.9698A>G	c.(9697-9699)tAc>tGc	p.Y3233C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3233	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAGCTTTGTACTTATCAAA	0.363																																						uc002red.2		NA																	0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(9697-9699)TAC>TGC		apolipoprotein B precursor	Atorvastatin(DB01076)						46.0	47.0	47.0					2																	21230042		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21230042T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.9698A>G	2.37:g.21230042T>C	ENSP00000233242:p.Tyr3233Cys						p.Y3233C	NM_000384	NP_000375	P04114	APOB_HUMAN			26	9826	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3233			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.9698A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256675	0.22965	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.38077	1.16	4.38	1.67	0.24075	.	0.505513	0.16534	N	0.210254	T	0.58524	0.2128	M	0.86953	2.85	0.80722	D	1	D	0.67145	0.996	D	0.64595	0.927	T	0.61272	-0.7096	10	0.87932	D	0	.	8.8426	0.35151	0.2991:0.0:0.0:0.7009	.	3233	P04114	APOB_HUMAN	C	3233	ENSP00000233242:Y3233C	ENSP00000233242:Y3233C	Y	-	2	0	APOB	21083547	1.000000	0.71417	0.028000	0.17463	0.415000	0.31203	1.387000	0.34430	0.509000	0.28195	0.460000	0.39030	TAC		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			19	27	0	0	0	0	19	27				
APOB	338	broad.mit.edu	37	2	21235485	21235485	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:21235485T>A	ENST00000233242.1	-	26	4382	c.4255A>T	c.(4255-4257)Aca>Tca	p.T1419S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1419					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T1419A(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATGATAGTGTGAACGTATTC	0.343																																						uc002red.2		NA																	1	Substitution - Missense(1)	p.T1419A(1)	ovary(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(4255-4257)ACA>TCA		apolipoprotein B precursor	Atorvastatin(DB01076)						75.0	79.0	78.0					2																	21235485		2199	4300	6499	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21235485T>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4255A>T	2.37:g.21235485T>A	ENSP00000233242:p.Thr1419Ser						p.T1419S	NM_000384	NP_000375	P04114	APOB_HUMAN			26	4383	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1419					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4255A>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.622250	0.28889	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00745	5.75	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000004	T	0.03263	0.0095	M	0.70595	2.14	0.80722	D	1	D	0.67145	0.996	P	0.60012	0.867	T	0.54173	-0.8333	10	0.48119	T	0.1	.	14.398	0.67025	0.0:0.0:0.0:1.0	.	1419	P04114	APOB_HUMAN	S	1419	ENSP00000233242:T1419S	ENSP00000233242:T1419S	T	-	1	0	APOB	21088990	0.949000	0.32298	0.521000	0.27850	0.075000	0.17131	2.141000	0.42168	2.129000	0.65627	0.533000	0.62120	ACA		0.343	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	45	0	0	0	0	9	45				
PRR30	339779	broad.mit.edu	37	2	27360306	27360306	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:27360306A>T	ENST00000335524.3	-	3	1417	c.892T>A	c.(892-894)Ttc>Atc	p.F298I	PREB_ENST00000260643.2_5'Flank|PREB_ENST00000406567.3_5'Flank|PREB_ENST00000416802.1_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		298										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGAGGCCGAAGCCGATGCCT	0.657																																						uc002rjb.2		NA																	0					0						c.(892-894)TTC>ATC		hypothetical protein LOC339779							21.0	23.0	22.0					2																	27360306		2176	4241	6417	SO:0001583	missense	339779							g.chr2:27360306A>T																												ENST00000335524.3:c.892T>A	2.37:g.27360306A>T	ENSP00000335017:p.Phe298Ile					PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	p.F298I	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1472	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		298					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.892T>A	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.078740	0.76528	.	.	ENSG00000186143	ENST00000335524	T	0.53857	0.6	4.67	4.67	0.58626	.	0.000000	0.39544	N	0.001336	T	0.59878	0.2226	L	0.32530	0.975	0.32926	D	0.516504	D	0.89917	1.0	D	0.87578	0.998	T	0.69975	-0.4999	10	0.87932	D	0	-19.8419	10.4098	0.44285	1.0:0.0:0.0:0.0	.	298	Q53SZ7	CB053_HUMAN	I	298	ENSP00000335017:F298I	ENSP00000335017:F298I	F	-	1	0	C2orf53	27213810	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	2.742000	0.47434	1.945000	0.56424	0.459000	0.35465	TTC		0.657	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			15	36	0	0	0	0	15	36				
TRMT61B	55006	broad.mit.edu	37	2	29092590	29092590	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:29092590C>A	ENST00000306108.5	-	1	577	c.554G>T	c.(553-555)gGg>gTg	p.G185V		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	185					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CGGGACTGCCCCCCAGTTACT	0.498																																						uc002rmm.2		NA																	0					0						c.(553-555)GGG>GTG		tRNA methyltransferase 61 homolog B							77.0	84.0	82.0					2																	29092590		2203	4300	6503	SO:0001583	missense	55006						tRNA (adenine-N1-)-methyltransferase activity	g.chr2:29092590C>A	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.554G>T	2.37:g.29092590C>A	ENSP00000302801:p.Gly185Val					TRMT61B_uc002rmn.2_Missense_Mutation_p.G185V|TRMT61B_uc010ezk.2_RNA	p.G185V	NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN			1	586	-			185					Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	ENST00000306108.5	37	c.554G>T	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033446	0.75504	.	.	ENSG00000171103	ENST00000306108	T	0.33216	1.42	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74518	-0.3639	10	0.87932	D	0	.	19.3938	0.94596	0.0:1.0:0.0:0.0	.	185;185	F8WDR2;Q9BVS5	.;TR61B_HUMAN	V	185	ENSP00000302801:G185V	ENSP00000302801:G185V	G	-	2	0	TRMT61B	28946094	0.999000	0.42202	0.518000	0.27811	0.645000	0.38454	5.264000	0.65513	2.590000	0.87494	0.561000	0.74099	GGG		0.498	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910		33	91	1	0	2.68e-12	4.94e-12	33	91				
WDR43	23160	broad.mit.edu	37	2	29158393	29158393	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:29158393C>T	ENST00000407426.3	+	12	1500	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	482						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACAGAAAGTACTTCAAACTAG	0.318																																						uc002rmo.2		NA																	0				ovary(1)	1						c.(1444-1446)CTT>TTT		WD repeat domain 43							96.0	92.0	93.0					2																	29158393		1820	4076	5896	SO:0001583	missense	23160					nucleolus		g.chr2:29158393C>T	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1444C>T	2.37:g.29158393C>T	ENSP00000384302:p.Leu482Phe						p.L482F	NM_015131	NP_055946	Q15061	WDR43_HUMAN			12	1476	+	Acute lymphoblastic leukemia(172;0.155)		482					Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	c.1444C>T	CCDS46251.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772223	0.31411	.	.	ENSG00000163811	ENST00000407426	D	0.86562	-2.14	5.66	5.66	0.87406	.	0.172346	0.52532	D	0.000067	D	0.82600	0.5072	L	0.35793	1.09	0.46874	D	0.999233	P	0.35923	0.528	B	0.39258	0.295	T	0.80562	-0.1327	10	0.35671	T	0.21	-14.7678	13.0115	0.58733	0.0:0.9256:0.0:0.0744	.	482	Q15061	WDR43_HUMAN	F	482	ENSP00000384302:L482F	ENSP00000384302:L482F	L	+	1	0	WDR43	29011897	1.000000	0.71417	1.000000	0.80357	0.370000	0.29829	3.078000	0.50096	2.832000	0.97577	0.655000	0.94253	CTT		0.318	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324865.1	XM_087089		10	39	0	0	0	0	10	39				
CAPN13	92291	broad.mit.edu	37	2	30959385	30959385	+	Missense_Mutation	SNP	C	C	G	rs368618651		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:30959385C>G	ENST00000295055.8	-	18	1882	c.1706G>C	c.(1705-1707)cGc>cCc	p.R569P	CAPN13_ENST00000534090.2_Missense_Mutation_p.R569P	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	569	EF-hand 1.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)	p.R569H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GTGAACAAGGCGCTTCCACAG	0.532																																						uc002rnn.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	large_intestine(1)|ovary(1)	2						c.(1705-1707)CGC>CCC		calpain 13							96.0	100.0	98.0					2																	30959385		2005	4165	6170	SO:0001583	missense	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30959385C>G		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1706G>C	2.37:g.30959385C>G	ENSP00000295055:p.Arg569Pro					CAPN13_uc002rnm.2_RNA	p.R569P	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			17	1882	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		569			EF-hand 1.		Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	ENST00000295055.8	37	c.1706G>C	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	c	14.66	2.602412	0.46423	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	T;T	0.29917	1.55;1.55	5.04	1.64	0.23874	EF-hand-like domain (1);	0.823271	0.10902	N	0.621490	T	0.42426	0.1202	M	0.79475	2.455	0.09310	N	1	D	0.61697	0.99	P	0.53490	0.727	T	0.30119	-0.9989	10	0.87932	D	0	.	3.782	0.08684	0.0:0.5508:0.199:0.2502	.	569	Q6MZZ7	CAN13_HUMAN	P	569	ENSP00000295055:R569P;ENSP00000431298:R569P	ENSP00000295055:R569P	R	-	2	0	CAPN13	30812889	0.000000	0.05858	0.008000	0.14137	0.017000	0.09413	0.208000	0.17415	0.629000	0.30376	0.546000	0.68486	CGC		0.532	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		23	46	0	0	0	0	23	46				
NLRC4	58484	broad.mit.edu	37	2	32474682	32474682	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:32474682G>A	ENST00000404025.2	-	5	2739	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	NLRC4_ENST00000360906.5_Silent_p.L751L|NLRC4_ENST00000402280.1_Silent_p.L751L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	751					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					ATACCCGGCAGCCGTTGATTC	0.393																																						uc002roi.2		NA																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(2251-2253)CTG>TTG		caspase recruitment domain protein 12							189.0	194.0	192.0					2																	32474682		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32474682G>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2251C>T	2.37:g.32474682G>A						NLRC4_uc002roj.1_Silent_p.L751L|NLRC4_uc010ezt.1_Intron	p.L751L	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	2497	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		751			LRR 5.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.2251C>T	CCDS33174.1																																																																																				0.393	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		69	184	0	0	0	0	69	184				
NLRC4	58484	broad.mit.edu	37	2	32475967	32475967	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:32475967C>T	ENST00000404025.2	-	5	1454	c.966G>A	c.(964-966)ttG>ttA	p.L322L	NLRC4_ENST00000360906.5_Silent_p.L322L|NLRC4_ENST00000402280.1_Silent_p.L322L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	322	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAATTTGGAGCAACAAGCCTT	0.507																																						uc002roi.2		NA																	0				ovary(3)|large_intestine(1)|lung(1)|skin(1)	6						c.(964-966)TTG>TTA		caspase recruitment domain protein 12							73.0	68.0	70.0					2																	32475967		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32475967C>T	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.966G>A	2.37:g.32475967C>T						NLRC4_uc002roj.1_Silent_p.L322L|NLRC4_uc010ezt.1_Intron	p.L322L	NM_021209	NP_067032	Q9NPP4	NLRC4_HUMAN			4	1212	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		322			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.966G>A	CCDS33174.1																																																																																				0.507	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		18	51	0	0	0	0	18	51				
LTBP1	4052	broad.mit.edu	37	2	33540329	33540329	+	Silent	SNP	G	G	A	rs367863981		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:33540329G>A	ENST00000404816.2	+	24	4076	c.3723G>A	c.(3721-3723)acG>acA	p.T1241T	LTBP1_ENST00000418533.2_Silent_p.T915T|LTBP1_ENST00000404525.1_Silent_p.T862T|LTBP1_ENST00000390003.4_Silent_p.T916T|LTBP1_ENST00000402934.1_Silent_p.T862T|LTBP1_ENST00000354476.3_Silent_p.T1242T|LTBP1_ENST00000407925.1_Silent_p.T915T|LTBP1_ENST00000272273.5_Silent_p.T181T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1241	EGF-like 12; 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)				ATGGCCGTACGTGTGAAGGTA	0.448																																						uc002ros.2		NA																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(3724-3726)ACG>ACA		latent transforming growth factor beta binding		G	,,,,	0,4406		0,0,2203	108.0	95.0	100.0		2745,2745,2586,2586,3723	-10.0	0.0	2		100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LTBP1	NM_000627.3,NM_001166264.1,NM_001166265.1,NM_001166266.1,NM_206943.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	915/1396,915/1354,862/1343,862/1301,1241/1722	33540329	1,13005	2203	4300	6503	SO:0001819	synonymous_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.chr2:33540329G>A		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.3723G>A	2.37:g.33540329G>A						LTBP1_uc002rot.2_Silent_p.T916T|LTBP1_uc002rou.2_Silent_p.T915T|LTBP1_uc002rov.2_Silent_p.T862T|LTBP1_uc010ymz.1_Silent_p.T915T|LTBP1_uc010yna.1_Silent_p.T862T|LTBP1_uc010ynb.1_Silent_p.T181T	p.T1242T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			24	3726	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1241			EGF-like 12; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.3726G>A	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	G	5.488	0.275061	0.10403	0.0	1.16E-4	ENSG00000049323	ENST00000415140	.	.	.	4.98	-9.97	0.00440	.	.	.	.	.	T	0.40979	0.1139	.	.	.	0.51767	D	0.999933	.	.	.	.	.	.	T	0.47262	-0.9131	4	.	.	.	.	4.1331	0.10158	0.2967:0.1654:0.4129:0.1251	.	.	.	.	H	203	.	.	R	+	2	0	LTBP1	33393833	0.000000	0.05858	0.013000	0.15412	0.796000	0.44982	-2.853000	0.00731	-2.676000	0.00411	-0.794000	0.03295	CGT		0.448	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		13	31	0	0	0	0	13	31				
RASGRP3	25780	broad.mit.edu	37	2	33741637	33741637	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:33741637T>C	ENST00000403687.3	+	4	839	c.99T>C	c.(97-99)taT>taC	p.Y33Y	RASGRP3_ENST00000402538.3_Silent_p.Y33Y|RASGRP3_ENST00000407811.1_Silent_p.Y33Y	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	33	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATAATAGTTATTTGCCAAGAA	0.328																																						uc002rox.2		NA																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(97-99)TAT>TAC		RAS guanyl releasing protein 3 (calcium and							124.0	110.0	114.0					2																	33741637		1815	4081	5896	SO:0001819	synonymous_variant	25780				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	g.chr2:33741637T>C	AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.99T>C	2.37:g.33741637T>C						RASGRP3_uc010ync.1_Silent_p.Y33Y|RASGRP3_uc002roy.2_Silent_p.Y33Y	p.Y33Y	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN			5	726	+	all_hematologic(175;0.115)		33			N-terminal Ras-GEF.		D6W583|O94931|Q53SD7	Silent	SNP	ENST00000403687.3	37	c.99T>C	CCDS46256.1																																																																																				0.328	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325462.2	NM_015376		2	9	0	0	0	0	2	9				
SLC8A1	6546	broad.mit.edu	37	2	40656936	40656936	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:40656936G>T	ENST00000403092.1	-	2	518	c.485C>A	c.(484-486)aCt>aAt	p.T162N	SLC8A1_ENST00000408028.2_Missense_Mutation_p.T162N|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T162N|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T162N|SLC8A1_ENST00000406785.2_Missense_Mutation_p.T162N|SLC8A1_ENST00000332839.4_Missense_Mutation_p.T162N|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T162N			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	162					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTCTCCTGCAGTGAAGTTATG	0.468																																						uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(484-486)ACT>AAT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						121.0	107.0	112.0					2																	40656936		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656936G>T		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.485C>A	2.37:g.40656936G>T	ENSP00000384763:p.Thr162Asn					SLC8A1_uc002rry.2_Missense_Mutation_p.T162N|SLC8A1_uc002rrz.2_Missense_Mutation_p.T162N|SLC8A1_uc002rsa.2_Missense_Mutation_p.T162N|SLC8A1_uc002rsd.3_Missense_Mutation_p.T162N|SLC8A1_uc002rsb.1_Missense_Mutation_p.T162N|SLC8A1_uc010fan.1_Missense_Mutation_p.T162N|SLC8A1_uc002rsc.1_Missense_Mutation_p.T162N	p.T162N	NM_021097	NP_066920	P32418	NAC1_HUMAN			1	509	-			162			Extracellular (Potential).|Alpha-1.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.485C>A	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377012	0.24857	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.29142	1.58;1.62;1.62;1.62;1.58;1.58;1.62;1.59;1.58;1.59	5.59	5.59	0.84812	Sodium/calcium exchanger membrane region (1);	0.265095	0.44483	D	0.000446	T	0.21307	0.0513	N	0.20845	0.615	0.42650	D	0.993442	B;B;B;B;B	0.22080	0.006;0.064;0.006;0.001;0.002	B;B;B;B;B	0.26517	0.043;0.07;0.043;0.006;0.012	T	0.07195	-1.0785	10	0.27785	T	0.31	.	12.1031	0.53796	0.0:0.0:0.8285:0.1714	.	162;162;162;162;162	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	N	162	ENSP00000383886:T162N;ENSP00000440727:T162N;ENSP00000384763:T162N;ENSP00000385678:T162N;ENSP00000385188:T162N;ENSP00000385535:T162N;ENSP00000332931:T162N;ENSP00000384908:T162N;ENSP00000385811:T162N;ENSP00000443515:T162N	ENSP00000332931:T162N	T	-	2	0	SLC8A1	40510440	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.534000	0.45676	2.648000	0.89879	0.563000	0.77884	ACT		0.468	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		20	57	1	0	1.56e-12	2.89e-12	20	57				
NRXN1	9378	broad.mit.edu	37	2	50779852	50779852	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:50779852C>T	ENST00000406316.2	-	9	3108	c.1632G>A	c.(1630-1632)gaG>gaA	p.E544E	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.E584E|NRXN1_ENST00000405472.3_Silent_p.E536E|NRXN1_ENST00000406859.3_Silent_p.E544E|NRXN1_ENST00000402717.3_Silent_p.E536E|NRXN1_ENST00000401669.2_Silent_p.E544E	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	544	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATCTAGCATCTCAATAGCAA	0.448																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(1750-1752)GAG>GAA		neurexin 1 isoform alpha2 precursor							171.0	156.0	161.0					2																	50779852		1916	4119	6035	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50779852C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1632G>A	2.37:g.50779852C>T						NRXN1_uc002rxb.3_Silent_p.E216E|NRXN1_uc002rxe.3_Silent_p.E544E|NRXN1_uc002rxc.1_RNA	p.E584E	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	3229	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1752G>A	CCDS54360.1																																																																																				0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			30	73	0	0	0	0	30	73				
NRXN1	9378	broad.mit.edu	37	2	50779857	50779857	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:50779857T>C	ENST00000406316.2	-	9	3103	c.1627A>G	c.(1627-1629)Att>Gtt	p.I543V	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.I583V|NRXN1_ENST00000405472.3_Missense_Mutation_p.I535V|NRXN1_ENST00000406859.3_Missense_Mutation_p.I543V|NRXN1_ENST00000402717.3_Missense_Mutation_p.I535V|NRXN1_ENST00000401669.2_Missense_Mutation_p.I543V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	543	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			AGCATCTCAATAGCAAAGAAG	0.443																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(1747-1749)ATT>GTT		neurexin 1 isoform alpha2 precursor							170.0	156.0	161.0					2																	50779857		1913	4120	6033	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50779857T>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1627A>G	2.37:g.50779857T>C	ENSP00000384311:p.Ile543Val					NRXN1_uc002rxb.3_Missense_Mutation_p.I215V|NRXN1_uc002rxe.3_Missense_Mutation_p.I543V|NRXN1_uc002rxc.1_RNA	p.I583V	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		9	3224	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1747A>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	8.072	0.770461	0.15983	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	N	0.08118	0	0.46564	D	0.999103	B;B;B	0.29085	0.012;0.081;0.232	B;B;B	0.36418	0.016;0.115;0.224	T	0.49986	-0.8880	10	0.13108	T	0.6	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	583;543;535	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	583;543;535;543;584;535;543	ENSP00000385142:I583V;ENSP00000384311:I543V;ENSP00000434015:I535V;ENSP00000385017:I543V;ENSP00000385434:I535V;ENSP00000385681:I543V	ENSP00000385017:I543V	I	-	1	0	NRXN1	50633361	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.302000	0.72788	2.270000	0.75569	0.482000	0.46254	ATT		0.443	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			27	79	0	0	0	0	27	79				
NRXN1	9378	broad.mit.edu	37	2	51254661	51254661	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:51254661G>T	ENST00000406316.2	-	2	2227	c.751C>A	c.(751-753)Cgc>Agc	p.R251S	NRXN1_ENST00000404971.1_Missense_Mutation_p.R251S|NRXN1_ENST00000405472.3_Missense_Mutation_p.R251S|NRXN1_ENST00000406859.3_Missense_Mutation_p.R251S|NRXN1_ENST00000402717.3_Missense_Mutation_p.R251S|NRXN1_ENST00000401669.2_Missense_Mutation_p.R251S|NRXN1_ENST00000405581.1_Missense_Mutation_p.R251S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	251	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCTTGCCGCGGAAGCCGGTT	0.751																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(751-753)CGC>AGC		neurexin 1 isoform alpha2 precursor							14.0	17.0	16.0					2																	51254661		2074	4157	6231	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254661G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.751C>A	2.37:g.51254661G>T	ENSP00000384311:p.Arg251Ser					NRXN1_uc002rxe.3_Missense_Mutation_p.R251S|NRXN1_uc002rxd.1_Missense_Mutation_p.R251S	p.R251S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	2228	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.751C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269815	0.40095	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.77489	0.62;0.62;-1.1;0.62;-1.1;0.62;0.62	5.9	4.99	0.66335	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.177240	0.24375	U	0.039066	T	0.66327	0.2778	N	0.20530	0.585	0.34482	D	0.703963	B;B;B	0.30068	0.001;0.267;0.015	B;B;B	0.33521	0.013;0.165;0.007	T	0.68085	-0.5502	10	0.18276	T	0.48	.	16.4579	0.84025	0.0:0.0:0.8682:0.1318	.	251;251;251	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	S	251	ENSP00000385142:R251S;ENSP00000384311:R251S;ENSP00000434015:R251S;ENSP00000385017:R251S;ENSP00000385434:R251S;ENSP00000385681:R251S;ENSP00000385310:R251S	ENSP00000385017:R251S	R	-	1	0	NRXN1	51108165	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.417000	0.66423	2.793000	0.96121	0.563000	0.77884	CGC		0.751	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	30	1	0	0.000602214	0.000897232	5	30				
NRXN1	9378	broad.mit.edu	37	2	51254722	51254722	+	Missense_Mutation	SNP	G	G	T	rs200930363		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:51254722G>T	ENST00000406316.2	-	2	2166	c.690C>A	c.(688-690)aaC>aaA	p.N230K	NRXN1_ENST00000404971.1_Missense_Mutation_p.N230K|NRXN1_ENST00000405472.3_Missense_Mutation_p.N230K|NRXN1_ENST00000406859.3_Missense_Mutation_p.N230K|NRXN1_ENST00000402717.3_Missense_Mutation_p.N230K|NRXN1_ENST00000401669.2_Missense_Mutation_p.N230K|NRXN1_ENST00000405581.1_Missense_Mutation_p.N230K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	230	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACACACCTCCGTTGAGGCACA	0.711																																						uc010fbq.2		NA																	0				ovary(2)	2						c.(688-690)AAC>AAA		neurexin 1 isoform alpha2 precursor							16.0	21.0	19.0					2																	51254722		2136	4213	6349	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51254722G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.690C>A	2.37:g.51254722G>T	ENSP00000384311:p.Asn230Lys					NRXN1_uc002rxe.3_Missense_Mutation_p.N230K|NRXN1_uc002rxd.1_Missense_Mutation_p.N230K	p.N230K	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	2167	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.690C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097569	0.56075	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.79845	0.39;0.39;-1.31;0.39;-1.31;0.39;0.39	5.69	2.38	0.29361	Concanavalin A-like lectin/glucanase, subgroup (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41194	U	0.000938	D	0.88433	0.6435	M	0.91300	3.195	0.36050	D	0.840723	P;D;B	0.63880	0.731;0.993;0.028	P;D;B	0.65684	0.665;0.937;0.002	D	0.87850	0.2657	10	0.41790	T	0.15	.	6.0805	0.19938	0.2739:0.0:0.5902:0.1359	.	230;230;230	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	K	230	ENSP00000385142:N230K;ENSP00000384311:N230K;ENSP00000434015:N230K;ENSP00000385017:N230K;ENSP00000385434:N230K;ENSP00000385681:N230K;ENSP00000385310:N230K	ENSP00000385017:N230K	N	-	3	2	NRXN1	51108226	0.660000	0.27420	0.998000	0.56505	0.595000	0.36748	-0.174000	0.09839	0.718000	0.32166	-0.224000	0.12420	AAC		0.711	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			11	15	1	0	4.69e-08	7.99e-08	11	15				
CFAP36	112942	broad.mit.edu	37	2	55756024	55756024	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:55756024A>T	ENST00000349456.4	+	4	441	c.293A>T	c.(292-294)cAa>cTa	p.Q98L	CCDC104_ENST00000407816.3_Missense_Mutation_p.Q98L|CCDC104_ENST00000339012.3_Missense_Mutation_p.Q123L|CCDC104_ENST00000403007.3_Missense_Mutation_p.Q98L|CCDC104_ENST00000406691.3_Missense_Mutation_p.Q98L			Q96G28	CFA36_HUMAN		98										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCCATTTTGCAACCTGTGTTG	0.363																																						uc002ryy.2		NA																	0				ovary(1)	1						c.(292-294)CAA>CTA		coiled-coil domain containing 104							66.0	65.0	65.0					2																	55756024		2203	4300	6503	SO:0001583	missense	112942							g.chr2:55756024A>T																												ENST00000349456.4:c.293A>T	2.37:g.55756024A>T	ENSP00000295117:p.Gln98Leu					CCDC104_uc002ryx.2_Missense_Mutation_p.Q123L	p.Q98L	NM_080667	NP_542398	Q96G28	CC104_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	491	+			98					Q53SF0|Q53ST9|Q6UY34	Missense_Mutation	SNP	ENST00000349456.4	37	c.293A>T	CCDS1854.2	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673699	0.88445	.	.	ENSG00000163001	ENST00000339012;ENST00000406691;ENST00000349456;ENST00000407816;ENST00000403007	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	6.17	6.17	0.99709	ADP-ribosylation factor-like 2-binding protein, domain (2);	0.053381	0.85682	D	0.000000	T	0.69806	0.3152	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.989;0.994	T	0.72890	-0.4155	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	98;123	Q96G28;Q96G28-2	CC104_HUMAN;.	L	123;98;98;98;98	ENSP00000342699:Q123L;ENSP00000385400:Q98L;ENSP00000295117:Q98L;ENSP00000385376:Q98L;ENSP00000385972:Q98L	ENSP00000342699:Q123L	Q	+	2	0	CCDC104	55609528	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.353000	0.79414	2.371000	0.80710	0.533000	0.62120	CAA		0.363	CCDC104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319610.2			5	34	0	0	0	0	5	34				
MEIS1	4211	broad.mit.edu	37	2	66664968	66664968	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:66664968C>T	ENST00000272369.9	+	2	569	c.112C>T	c.(112-114)Cac>Tac	p.H38Y	MEIS1_ENST00000488550.1_Missense_Mutation_p.H38Y|MEIS1_ENST00000398506.2_Missense_Mutation_p.H36Y|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000495021.2_5'Flank|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000444274.2_Missense_Mutation_p.H6Y|MEIS1_ENST00000560281.2_Missense_Mutation_p.H38Y|MEIS1_ENST00000407092.2_Missense_Mutation_p.H38Y	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	38					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						GCCGGTCCACCACCTGAACCA	0.612																																						uc002sdu.2		NA																	0					0						c.(112-114)CAC>TAC		Meis homeobox 1							41.0	45.0	44.0					2																	66664968		2091	4235	6326	SO:0001583	missense	4211						sequence-specific DNA binding transcription factor activity	g.chr2:66664968C>T		CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.112C>T	2.37:g.66664968C>T	ENSP00000272369:p.His38Tyr					MEIS1_uc002sdt.2_Missense_Mutation_p.H38Y|MEIS1_uc002sdv.2_Missense_Mutation_p.H36Y|MEIS1_uc010yqh.1_RNA|MEIS1_uc010yqi.1_5'Flank|MEIS1_uc002sdw.1_5'Flank	p.H38Y	NM_002398	NP_002389	O00470	MEIS1_HUMAN			2	569	+			38					A8MV50	Missense_Mutation	SNP	ENST00000272369.9	37	c.112C>T	CCDS46309.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.227983	0.58777	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000444274	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	T	0.54727	0.1876	L	0.61218	1.895	0.58432	D	0.999999	P;P;P	0.52842	0.956;0.764;0.956	D;B;D	0.73380	0.98;0.41;0.98	T	0.43507	-0.9387	10	0.36615	T	0.2	.	19.3704	0.94481	0.0:1.0:0.0:0.0	.	36;38;38	O00470-2;O00470;F8W8U3	.;MEIS1_HUMAN;.	Y	38;38;36;6	ENSP00000272369:H38Y;ENSP00000384461:H38Y;ENSP00000381518:H36Y;ENSP00000403206:H6Y	ENSP00000272369:H38Y	H	+	1	0	MEIS1	66518472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.561000	0.67339	2.666000	0.90696	0.655000	0.94253	CAC		0.612	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319725.4	NM_002398		7	25	0	0	0	0	7	25				
DYSF	8291	broad.mit.edu	37	2	71797809	71797809	+	Nonsense_Mutation	SNP	C	C	T	rs369607332		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:71797809C>T	ENST00000258104.3	+	29	3389	c.3112C>T	c.(3112-3114)Cga>Tga	p.R1038*	DYSF_ENST00000409366.1_Nonsense_Mutation_p.R1039*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.R1055*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.R1025*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.R1056*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.R1055*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.R1069*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.R1056*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.R1038*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.R1039*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.R1070*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1038	Arg-rich.		R -> Q (in LGMD2B; unknown pathological significance). {ECO:0000269|PubMed:14678801, ECO:0000269|PubMed:16100712, ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTACACACACCGACGGCGGCG	0.642																																						uc002sie.2		NA																	0				ovary(3)|breast(2)|pancreas(1)|skin(1)	7	GRCh37	CM053204	DYSF	M		c.(3112-3114)CGA>TGA		dysferlin isoform 8							70.0	70.0	70.0					2																	71797809		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71797809C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3112C>T	2.37:g.71797809C>T	ENSP00000258104:p.Arg1038*					DYSF_uc010feg.2_Nonsense_Mutation_p.R1069*|DYSF_uc010feh.2_Nonsense_Mutation_p.R1024*|DYSF_uc002sig.3_Nonsense_Mutation_p.R1024*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.R1038*|DYSF_uc010fef.2_Nonsense_Mutation_p.R1055*|DYSF_uc010fei.2_Nonsense_Mutation_p.R1055*|DYSF_uc010fek.2_Nonsense_Mutation_p.R1056*|DYSF_uc010fej.2_Nonsense_Mutation_p.R1025*|DYSF_uc010fel.2_Nonsense_Mutation_p.R1025*|DYSF_uc010feo.2_Nonsense_Mutation_p.R1070*|DYSF_uc010fem.2_Nonsense_Mutation_p.R1039*|DYSF_uc010fen.2_Nonsense_Mutation_p.R1056*|DYSF_uc002sif.2_Nonsense_Mutation_p.R1039*	p.R1038*	NM_003494	NP_003485	O75923	DYSF_HUMAN			29	3488	+			1038		R -> Q (in LGMD2B; uncertain pathogenicity).	Cytoplasmic (Potential).|Arg-rich.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.3112C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	44	10.903689	0.99486	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.1	2.05	0.26809	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.8442	3.6337	0.08141	0.3635:0.4483:0.0:0.1881	.	.	.	.	X	1069;1055;1055;1038;1038;1070;1039;1025;1039;1056;1056	.	ENSP00000258104:R1038X	R	+	1	2	DYSF	71651317	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	1.180000	0.32005	0.499000	0.27970	0.655000	0.94253	CGA		0.642	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		14	32	0	0	0	0	14	32				
RAB11FIP5	26056	broad.mit.edu	37	2	73315415	73315415	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:73315415G>A	ENST00000258098.6	-	3	1571	c.1331C>T	c.(1330-1332)tCt>tTt	p.S444F	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	444					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CACAGCCTCAGAGGAGGCCAC	0.657																																						uc002siu.3		NA																	0					0						c.(1330-1332)TCT>TTT		RAB11 family interacting protein 5 (class I)							74.0	66.0	69.0					2																	73315415		2203	4300	6503	SO:0001583	missense	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315415G>A	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1331C>T	2.37:g.73315415G>A	ENSP00000258098:p.Ser444Phe					RAB11FIP5_uc002sit.3_Missense_Mutation_p.S366F	p.S444F	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			3	1572	-			444					O94939|Q9P0M1	Missense_Mutation	SNP	ENST00000258098.6	37	c.1331C>T	CCDS1923.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087112	0.36855	.	.	ENSG00000135631	ENST00000258098	T	0.49432	0.78	4.72	3.81	0.43845	.	0.660831	0.13618	N	0.374588	T	0.40546	0.1121	L	0.44542	1.39	0.22648	N	0.998895	P;P	0.46395	0.612;0.877	B;B	0.41723	0.259;0.365	T	0.27606	-1.0069	10	0.66056	D	0.02	-0.3751	9.0983	0.36653	0.0:0.1608:0.6729:0.1663	.	444;444	Q9BXF6;Q2Z1P3	RFIP5_HUMAN;.	F	444	ENSP00000258098:S444F	ENSP00000258098:S444F	S	-	2	0	RAB11FIP5	73168923	0.044000	0.20184	0.834000	0.33040	0.944000	0.59088	1.483000	0.35497	1.301000	0.44836	0.561000	0.74099	TCT		0.657	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		39	88	0	0	0	0	39	88				
RAB11FIP5	26056	broad.mit.edu	37	2	73315801	73315801	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:73315801C>G	ENST00000258098.6	-	3	1185	c.945G>C	c.(943-945)gtG>gtC	p.V315V	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	315					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAGGAGGAGCCACTCGCATCT	0.592																																						uc002siu.3		NA																	0					0						c.(943-945)GTG>GTC		RAB11 family interacting protein 5 (class I)							21.0	23.0	22.0					2																	73315801		2139	4209	6348	SO:0001819	synonymous_variant	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315801C>G	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.945G>C	2.37:g.73315801C>G						RAB11FIP5_uc002sit.3_Silent_p.V237V	p.V315V	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN			3	1186	-			315					O94939|Q9P0M1	Silent	SNP	ENST00000258098.6	37	c.945G>C	CCDS1923.1																																																																																				0.592	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		6	23	0	0	0	0	6	23				
CCDC142	84865	broad.mit.edu	37	2	74709692	74709692	+	Silent	SNP	G	G	A	rs200721448		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:74709692G>A	ENST00000393965.3	-	1	669	c.273C>T	c.(271-273)ctC>ctT	p.L91L	CCDC142_ENST00000290418.4_Silent_p.L91L|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_Intron|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000233623.5_5'Flank	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	91										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						ACACCGCCCGGAGACGCTGCA	0.716																																						uc002slr.2		NA																	0				central_nervous_system(1)	1						c.(271-273)CTC>CTT		coiled-coil domain containing 142							7.0	8.0	8.0					2																	74709692		2106	4118	6224	SO:0001819	synonymous_variant	84865							g.chr2:74709692G>A	AK075543	CCDS1945.1	2p13.1	2008-02-05			ENSG00000135637	ENSG00000135637			25889	protein-coding gene	gene with protein product							Standard	NM_032779		Approved	FLJ14397	uc002slq.3	Q17RM4	OTTHUMG00000129962	ENST00000393965.3:c.273C>T	2.37:g.74709692G>A						TTC31_uc002sls.2_5'Flank|TTC31_uc010yrv.1_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.2_RNA|CCDC142_uc002slq.2_Silent_p.L91L|CCDC142_uc002slp.2_Silent_p.L91L	p.L91L	NM_032779	NP_116168	Q17RM4	CC142_HUMAN			1	666	-			91			Potential.		B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7	Silent	SNP	ENST00000393965.3	37	c.273C>T																																																																																					0.716	CCDC142-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328391.1	NM_032779		7	8	0	0	0	0	7	8				
DQX1	165545	broad.mit.edu	37	2	74754875	74754875	+	5'Flank	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:74754875G>A	ENST00000404568.3	-	0	0				HTRA2_ENST00000258080.3_5'Flank|AUP1_ENST00000377526.3_Missense_Mutation_p.R277C|DQX1_ENST00000393951.2_5'Flank|HTRA2_ENST00000352222.3_5'Flank	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1							nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GACTGGGGGCGCAATCTGGGG	0.512																																						uc010yrx.1		NA																	0					0						c.(1000-1002)CGC>TGC		SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA;							156.0	170.0	166.0					2																	74754875		1998	4164	6162	SO:0001631	upstream_gene_variant	550					endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding	g.chr2:74754875G>A	AK074337	CCDS1949.2	2p12	2010-04-20	2009-01-15		ENSG00000144045	ENSG00000144045			20410	protein-coding gene	gene with protein product			"""DEAQ box polypeptide 1 (RNA-dependent ATPase)"""				Standard	NM_133637		Approved	FLJ23757	uc010yrw.2	Q8TE96	OTTHUMG00000129965		2.37:g.74754875G>A	Exception_encountered					DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_Missense_Mutation_p.R10C|AUP1_uc002smf.2_Missense_Mutation_p.R277C|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.R186C|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	p.R334C			Q9Y679	AUP1_HUMAN			7	1126	-			343			Cytoplasmic (Potential).		Q6B017|Q8NAM8	Missense_Mutation	SNP	ENST00000404568.3	37	c.1000C>T	CCDS1949.2	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903540	0.33628	.	.	ENSG00000115307	ENST00000377526;ENST00000258081;ENST00000412627	.	.	.	5.42	3.61	0.41365	.	0.363552	0.27284	N	0.020078	T	0.22589	0.0545	N	0.08118	0	0.36431	D	0.864931	D;D;P	0.58620	0.983;0.958;0.61	B;B;B	0.41299	0.353;0.197;0.169	T	0.31392	-0.9945	9	0.66056	D	0.02	-5.1007	10.3604	0.43989	0.1647:0.0:0.8353:0.0	.	334;343;277	E7EU18;Q9Y679;Q9Y679-2	.;AUP1_HUMAN;.	C	277;341;279	.	ENSP00000258081:R341C	R	-	1	0	AUP1	74608383	0.118000	0.22208	0.865000	0.33974	0.980000	0.70556	3.183000	0.50918	1.304000	0.44892	0.561000	0.74099	CGC		0.512	DQX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252230.3	NM_133637		50	129	0	0	0	0	50	129				
LRRTM4	80059	broad.mit.edu	37	2	77746849	77746849	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:77746849G>T	ENST00000409093.1	-	3	482	c.146C>A	c.(145-147)tCt>tAt	p.S49Y	LRRTM4_ENST00000409884.1_Missense_Mutation_p.S49Y|LRRTM4_ENST00000409282.1_Missense_Mutation_p.S50Y|LRRTM4_ENST00000409088.3_Missense_Mutation_p.S49Y|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S50Y			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	49	LRRNT.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GAAAGCATGAGACTCACAGTA	0.463																																						uc002snr.2		NA																	0				pancreas(3)|ovary(1)	4						c.(145-147)TCT>TAT		leucine rich repeat transmembrane neuronal 4							112.0	108.0	109.0					2																	77746849		1999	4172	6171	SO:0001583	missense	80059					integral to membrane		g.chr2:77746849G>T	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.146C>A	2.37:g.77746849G>T	ENSP00000386357:p.Ser49Tyr					LRRTM4_uc002snq.2_Missense_Mutation_p.S49Y|LRRTM4_uc002sns.2_Missense_Mutation_p.S49Y|LRRTM4_uc002snt.2_Missense_Mutation_p.S50Y	p.S49Y	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	561	-			49			Extracellular (Potential).|LRRNT.		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	c.146C>A	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580041	0.65992	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.04970	3.52;3.52;3.52;3.52;3.52	5.72	5.72	0.89469	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	M	0.83312	2.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.00956	-1.1501	10	0.54805	T	0.06	.	18.4391	0.90658	0.0:0.0:1.0:0.0	.	50;49;49	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	Y	50;49;49;49;50	ENSP00000387228:S50Y;ENSP00000387297:S49Y;ENSP00000386357:S49Y;ENSP00000386236:S49Y;ENSP00000386286:S50Y	ENSP00000386236:S49Y	S	-	2	0	LRRTM4	77600357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	TCT		0.463	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		27	72	1	0	1.18e-12	2.18e-12	27	72				
CTNNA2	1496	broad.mit.edu	37	2	80136847	80136847	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:80136847G>T	ENST00000402739.4	+	6	985	c.980G>T	c.(979-981)cGg>cTg	p.R327L	CTNNA2_ENST00000466387.1_Missense_Mutation_p.R327L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R361L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R327L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R327L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R327L	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	327					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGAGACGACCGGCGCGAGAGG	0.637																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(979-981)CGG>CTG		catenin, alpha 2 isoform 1							51.0	57.0	55.0					2																	80136847		2074	4217	6291	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80136847G>T		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.980G>T	2.37:g.80136847G>T	ENSP00000384638:p.Arg327Leu					CTNNA2_uc010yse.1_Missense_Mutation_p.R327L|CTNNA2_uc010ysf.1_Missense_Mutation_p.R327L|CTNNA2_uc010ysg.1_Missense_Mutation_p.R327L	p.R327L	NM_004389	NP_004380	P26232	CTNA2_HUMAN			6	985	+			327					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.980G>T		.	.	.	.	.	.	.	.	.	.	G	35	5.419941	0.96111	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.6	5.6	0.85130	.	0.146450	0.47093	D	0.000258	T	0.74801	0.3764	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.987;0.979	T	0.78674	-0.2112	10	0.72032	D	0.01	.	19.6081	0.95588	0.0:0.0:1.0:0.0	.	327;327;327	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	L	327;327;361;327;327;327	ENSP00000418191:R327L;ENSP00000419295:R327L;ENSP00000355398:R361L;ENSP00000384638:R327L;ENSP00000444675:R327L;ENSP00000441705:R327L	ENSP00000355398:R361L	R	+	2	0	CTNNA2	79990358	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.803000	0.99136	2.652000	0.90054	0.591000	0.81541	CGG		0.637	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		33	74	1	0	5.83e-16	1.14e-15	33	74				
CTNNA2	1496	broad.mit.edu	37	2	80816527	80816527	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:80816527C>G	ENST00000402739.4	+	14	2111	c.2106C>G	c.(2104-2106)gcC>gcG	p.A702A	CTNNA2_ENST00000466387.1_Silent_p.A702A|CTNNA2_ENST00000361291.4_Silent_p.A736A|AC008067.2_ENST00000595478.1_RNA|AC008067.2_ENST00000609950.1_RNA|CTNNA2_ENST00000540488.1_Silent_p.A702A|CTNNA2_ENST00000496558.1_Silent_p.A702A|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Silent_p.A702A|CTNNA2_ENST00000343114.3_Silent_p.A381A|AC008067.2_ENST00000430876.1_RNA	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	702					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAGAAGTGGCCAAATGGGACG	0.498																																						uc010ysh.1		NA																	0				pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(2104-2106)GCC>GCG		catenin, alpha 2 isoform 1							128.0	137.0	134.0					2																	80816527		2199	4300	6499	SO:0001819	synonymous_variant	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80816527C>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2106C>G	2.37:g.80816527C>G						CTNNA2_uc010yse.1_Silent_p.A702A|CTNNA2_uc010ysf.1_Silent_p.A702A|CTNNA2_uc010ysg.1_Silent_p.A702A|CTNNA2_uc010ysi.1_Silent_p.A334A|CTNNA2_uc010ysj.1_Silent_p.A31A	p.A702A	NM_004389	NP_004380	P26232	CTNA2_HUMAN			14	2111	+			702					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37	c.2106C>G																																																																																					0.498	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		35	57	0	0	0	0	35	57				
PTCD3	55037	broad.mit.edu	37	2	86350830	86350830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:86350830G>T	ENST00000254630.7	+	9	727	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	PTCD3_ENST00000409277.3_Missense_Mutation_p.R179S	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	221					mitochondrial translation (GO:0032543)|regulation of translation (GO:0006417)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						TCAGGAAGAGGAAAATGATGA	0.383																																						uc002sqw.2		NA																	0				ovary(1)	1						c.(661-663)GAA>TAA		pentatricopeptide repeat domain 3 precursor							150.0	140.0	143.0					2																	86350830		2203	4300	6503	SO:0001587	stop_gained	55037					mitochondrion	protein binding	g.chr2:86350830G>T		CCDS33235.1	2p11.2	2014-02-12	2012-02-24		ENSG00000132300	ENSG00000132300			24717	protein-coding gene	gene with protein product		614918				8889548	Standard	NM_017952		Approved	FLJ20758, DKFZp666K071	uc002sqw.2	Q96EY7	OTTHUMG00000153168	ENST00000254630.7:c.661G>T	2.37:g.86350830G>T	ENSP00000254630:p.Glu221*					PTCD3_uc010ytc.1_RNA|PTCD3_uc002sqx.1_5'Flank	p.E221*	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN			9	727	+			221					A6NHD2|D6W5M1|Q597H0|Q658Y9|Q9BUZ8|Q9NWL0	Nonsense_Mutation	SNP	ENST00000254630.7	37	c.661G>T	CCDS33235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.29|14.29	2.492092|2.492092	0.44352|0.44352	.|.	.|.	ENSG00000132300|ENSG00000132300	ENST00000254630|ENST00000409277	.|T	.|0.54279	.|0.58	4.5|4.5	3.61|3.61	0.41365|0.41365	.|.	0.653896|.	0.16585|.	N|.	0.208020|.	.|T	.|0.56775	.|0.2008	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.51694	.|-0.8673	.|6	0.06494|0.72032	T|D	0.89|0.01	-8.6581|-8.6581	11.184|11.184	0.48644|0.48644	0.0:0.1868:0.8132:0.0|0.0:0.1868:0.8132:0.0	.|.	.|.	.|.	.|.	X|S	221|179	.|ENSP00000386462:R179S	ENSP00000254630:E221X|ENSP00000386462:R179S	E|R	+|+	1|3	0|2	PTCD3|PTCD3	86204341|86204341	0.991000|0.991000	0.36638|0.36638	0.035000|0.035000	0.18076|0.18076	0.092000|0.092000	0.18411|0.18411	2.587000|2.587000	0.46128|0.46128	1.181000|1.181000	0.42912|0.42912	0.591000|0.591000	0.81541|0.81541	GAA|AGG		0.383	PTCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329854.1	NM_017952		14	36	1	0	3.27e-08	5.61e-08	14	36				
ADRA2B	151	broad.mit.edu	37	2	96780851	96780851	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:96780851C>A	ENST00000409345.3	-	1	1133	c.1038G>T	c.(1036-1038)gtG>gtT	p.V346V		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	346					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTATAGCACCCACGCCCCTGC	0.677																																						uc002svi.2		NA																	0				ovary(2)|lung(1)	3						c.(1045-1047)GTG>GTT		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						23.0	29.0	27.0					2																	96780851		2171	4256	6427	SO:0001819	synonymous_variant	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96780851C>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1038G>T	2.37:g.96780851C>A							p.V349V	NM_000682	NP_000673	P18089	ADA2B_HUMAN			3	1047	-			349			Cytoplasmic (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Silent	SNP	ENST00000409345.3	37	c.1047G>T	CCDS56129.1																																																																																				0.677	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			7	16	1	0	0.00198382	0.0028924	7	16				
NCAPH	23397	broad.mit.edu	37	2	97008569	97008569	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:97008569G>C	ENST00000240423.4	+	4	482	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	NCAPH_ENST00000455200.1_Missense_Mutation_p.E136Q|NCAPH_ENST00000427946.1_Missense_Mutation_p.E11Q	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	147					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GAAAGACACCGAACCAACCAA	0.353																																						uc002svz.1		NA																	0				urinary_tract(1)|skin(1)	2						c.(439-441)GAA>CAA		non-SMC condensin I complex, subunit H							69.0	68.0	68.0					2																	97008569		2202	4300	6502	SO:0001583	missense	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97008569G>C	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.439G>C	2.37:g.97008569G>C	ENSP00000240423:p.Glu147Gln					NCAPH_uc010fhu.1_Missense_Mutation_p.E123Q|NCAPH_uc010fhv.1_Missense_Mutation_p.E136Q|NCAPH_uc010yum.1_Missense_Mutation_p.E123Q|NCAPH_uc010fhw.1_Missense_Mutation_p.E136Q|NCAPH_uc010yun.1_Missense_Mutation_p.E11Q|NCAPH_uc002swa.1_Intron	p.E147Q	NM_015341	NP_056156	Q15003	CND2_HUMAN			4	523	+		Ovarian(717;0.0221)	147					B4E189|Q8TB87	Missense_Mutation	SNP	ENST00000240423.4	37	c.439G>C	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572359	0.86542	.	.	ENSG00000121152	ENST00000240423;ENST00000427946;ENST00000435975;ENST00000455200	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.73319	2.225	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.63633	-0.6593	10	0.30854	T	0.27	-27.7504	16.754	0.85494	0.0:0.0:1.0:0.0	.	123;136;136;147	B4DRG7;E9PHA2;C9J470;Q15003	.;.;.;CND2_HUMAN	Q	147;11;136;136	ENSP00000240423:E147Q;ENSP00000400774:E11Q;ENSP00000405237:E136Q;ENSP00000407308:E136Q	ENSP00000240423:E147Q	E	+	1	0	NCAPH	96372296	1.000000	0.71417	0.943000	0.38184	0.963000	0.63663	9.073000	0.93992	2.632000	0.89209	0.655000	0.94253	GAA		0.353	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2	NM_015341		14	37	0	0	0	0	14	37				
LMAN2L	81562	broad.mit.edu	37	2	97370351	97370351	+	IGR	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:97370351C>A	ENST00000264963.4	-	0	2397				FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like						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						CTACAATAGACCATGAGTGGA	0.463																																						uc010fia.2		NA																	0				ovary(1)	1						c.(6202-6204)GAC>GAA		fer-1-like 5 isoform 2							111.0	111.0	111.0					2																	97370351		1872	4104	5976	SO:0001628	intergenic_variant	90342					integral to membrane		g.chr2:97370351C>A	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		2.37:g.97370351C>A						FER1L5_uc002sws.3_Missense_Mutation_p.D777E|FER1L5_uc002swt.3_Missense_Mutation_p.D777E|FER1L5_uc010yus.1_Missense_Mutation_p.D776E	p.D2068E	NM_001113382	NP_001106853	A0AVI2	FR1L5_HUMAN			52	6204	+			2068					B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.6204C>A	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	C	6.391	0.440241	0.12104	.	.	ENSG00000214272	ENST00000414152;ENST00000436930;ENST00000397978	.	.	.	4.89	0.843	0.18935	.	.	.	.	.	T	0.22360	0.0539	N	0.19112	0.55	.	.	.	B;B;B	0.11235	0.002;0.002;0.004	B;B;B	0.08055	0.001;0.002;0.003	T	0.19712	-1.0297	7	0.45353	T	0.12	.	1.2992	0.02076	0.1786:0.4516:0.1735:0.1964	.	776;2068;777	B7ZLI3;A0AVI2;A0AVI2-2	.;FR1L5_HUMAN;.	E	2068;2072;777	.	ENSP00000442027:D777E	D	+	3	2	FER1L5	96734078	0.002000	0.14202	0.000000	0.03702	0.056000	0.15407	0.718000	0.25866	0.086000	0.17137	0.655000	0.94253	GAC		0.463	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1	NM_030805		31	83	1	0	1.75e-11	3.19e-11	31	83				
INPP4A	3631	broad.mit.edu	37	2	99179952	99179952	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:99179952C>T	ENST00000523221.1	+	17	1895	c.1895C>T	c.(1894-1896)cCg>cTg	p.P632L	INPP4A_ENST00000545415.1_Missense_Mutation_p.P593L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409016.4_Missense_Mutation_p.P593L|INPP4A_ENST00000074304.5_Missense_Mutation_p.P632L|INPP4A_ENST00000409540.3_Missense_Mutation_p.P593L|INPP4A_ENST00000409851.3_Missense_Mutation_p.P627L			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	632					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GCCCTTTACCCGCTGCTGACC	0.532																																						uc002syy.2		NA																	0				kidney(1)	1						c.(1894-1896)CCG>CTG		inositol polyphosphate-4-phosphatase, type 1							35.0	38.0	37.0					2																	99179952		2063	4207	6270	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99179952C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.1895C>T	2.37:g.99179952C>T	ENSP00000427722:p.Pro632Leu					INPP4A_uc010yvj.1_Missense_Mutation_p.P593L|INPP4A_uc010yvk.1_Missense_Mutation_p.P593L|INPP4A_uc002syx.2_Missense_Mutation_p.P627L|INPP4A_uc010fik.2_Intron	p.P632L	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			19	2288	+			632					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.1895C>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186557	0.94885	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67841	0.2936	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.978;0.978	T	0.68992	-0.5263	10	0.87932	D	0	-28.5329	18.455	0.90717	0.0:1.0:0.0:0.0	.	593;593;632;627	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	L	593;627;632;593;593;632	ENSP00000386704:P593L;ENSP00000386777:P627L;ENSP00000074304:P632L;ENSP00000442149:P593L;ENSP00000387294:P593L;ENSP00000427722:P632L	ENSP00000074304:P632L	P	+	2	0	INPP4A	98546384	1.000000	0.71417	0.973000	0.42090	0.969000	0.65631	7.651000	0.83577	2.838000	0.97847	0.655000	0.94253	CCG		0.532	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		9	29	0	0	0	0	9	29				
CREG2	200407	broad.mit.edu	37	2	102000150	102000150	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:102000150T>C	ENST00000324768.5	-	2	593	c.456A>G	c.(454-456)ccA>ccG	p.P152P	CREG2_ENST00000495455.1_5'UTR	NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	152						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	FMN binding (GO:0010181)|oxidoreductase activity (GO:0016491)			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AGTTCCCAAATGGCAGTCCTT	0.512																																						uc002tba.2		NA																	0				ovary(1)	1						c.(454-456)CCA>CCG		cellular repressor of E1A-stimulated genes 2							103.0	103.0	103.0					2																	102000150		2203	4300	6503	SO:0001819	synonymous_variant	200407					extracellular region	FMN binding	g.chr2:102000150T>C	AB046109	CCDS2052.1	2q12.1	2007-08-01			ENSG00000175874	ENSG00000175874			14272	protein-coding gene	gene with protein product						12408961	Standard	NM_153836		Approved		uc002tba.2	Q8IUH2	OTTHUMG00000130692	ENST00000324768.5:c.456A>G	2.37:g.102000150T>C							p.P152P	NM_153836	NP_722578	Q8IUH2	CREG2_HUMAN			2	502	-			152					Q86X03|Q8N540|Q8N9E3	Silent	SNP	ENST00000324768.5	37	c.456A>G	CCDS2052.1																																																																																				0.512	CREG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253188.2	NM_153836		34	77	0	0	0	0	34	77				
MFSD9	84804	broad.mit.edu	37	2	103353142	103353142	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:103353142C>G	ENST00000258436.5	-	1	171	c.128G>C	c.(127-129)cGc>cCc	p.R43P	TMEM182_ENST00000409173.1_5'Flank|TMEM182_ENST00000409528.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	43					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CAGGAAGCGGCGGGCTCCGAC	0.672																																						uc002tcb.2		NA																	0				ovary(2)|breast(2)	4						c.(127-129)CGC>CCC		major facilitator superfamily domain containing							36.0	44.0	41.0					2																	103353142		2203	4299	6502	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103353142C>G		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.128G>C	2.37:g.103353142C>G	ENSP00000258436:p.Arg43Pro					TMEM182_uc002tcc.3_5'Flank|TMEM182_uc002tcd.3_5'Flank|MFSD9_uc010fja.2_RNA	p.R43P	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN			1	196	-			43					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.128G>C	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569950	0.28003	.	.	ENSG00000135953	ENST00000258436	D	0.82526	-1.62	3.79	2.9	0.33743	Major facilitator superfamily domain, general substrate transporter (1);	0.426176	0.23162	N	0.051232	T	0.73016	0.3533	L	0.29908	0.895	0.33926	D	0.641451	B	0.18968	0.032	B	0.17433	0.018	T	0.75422	-0.3323	10	0.49607	T	0.09	-3.4393	11.2334	0.48925	0.0:0.8131:0.1869:0.0	.	43	Q8NBP5	MFSD9_HUMAN	P	43	ENSP00000258436:R43P	ENSP00000258436:R43P	R	-	2	0	MFSD9	102719574	0.998000	0.40836	0.956000	0.39512	0.211000	0.24417	0.651000	0.24873	1.144000	0.42321	0.555000	0.69702	CGC		0.672	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		14	42	0	0	0	0	14	42				
UXS1	80146	broad.mit.edu	37	2	106739524	106739524	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:106739524C>T	ENST00000409501.3	-	9	703	c.646G>A	c.(646-648)Gag>Aag	p.E216K	UXS1_ENST00000428048.2_Missense_Mutation_p.E60K|UXS1_ENST00000540130.1_Missense_Mutation_p.E159K|UXS1_ENST00000283148.7_Missense_Mutation_p.E221K|UXS1_ENST00000409032.1_Missense_Mutation_p.E48K			Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	216					protein tetramerization (GO:0051262)|UDP-D-xylose biosynthetic process (GO:0033320)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|UDP-glucuronate decarboxylase activity (GO:0048040)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CAGTAATCCTCACTTTGAGGG	0.453																																						uc002tdm.2		NA																	0				ovary(2)	2						c.(646-648)GAG>AAG		UDP-glucuronate decarboxylase 1							121.0	120.0	120.0					2																	106739524		1939	4131	6070	SO:0001583	missense	80146				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	g.chr2:106739524C>T	AK027244	CCDS46378.1, CCDS58720.1, CCDS58721.1	2q12.2	2012-02-22			ENSG00000115652	ENSG00000115652	4.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	17729	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 6E, member 12"""	609749				19027726	Standard	NM_001253875		Approved	FLJ23591, UGD, SDR6E1	uc002tdn.3	Q8NBZ7	OTTHUMG00000153150	ENST00000409501.3:c.646G>A	2.37:g.106739524C>T	ENSP00000387019:p.Glu216Lys					UXS1_uc002tdl.2_Missense_Mutation_p.E48K|UXS1_uc002tdn.2_Missense_Mutation_p.E221K|UXS1_uc002tdo.2_Missense_Mutation_p.E159K|UXS1_uc010ywh.1_Missense_Mutation_p.E60K	p.E216K	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN			9	744	-			216			Lumenal (Potential).		Q8NBX3|Q9H5C2	Missense_Mutation	SNP	ENST00000409501.3	37	c.646G>A	CCDS46378.1	.	.	.	.	.	.	.	.	.	.	C	36	5.886666	0.97068	.	.	ENSG00000115652	ENST00000283148;ENST00000540130;ENST00000409501;ENST00000409032;ENST00000428048;ENST00000441952;ENST00000416298;ENST00000444193;ENST00000457835;ENST00000436241	D;D;D;D;D;D;D;D;D;D	0.97404	-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37;-4.37	5.96	5.96	0.96718	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.050594	0.85682	N	0.000000	D	0.99435	0.9800	H	0.99940	5	0.80722	D	1	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.77004	0.941;0.981;0.989	D	0.97791	1.0238	10	0.87932	D	0	-12.8121	20.4123	0.99019	0.0:1.0:0.0:0.0	.	60;221;216	B4E3U7;Q8NBZ7-2;Q8NBZ7	.;.;UXS1_HUMAN	K	221;159;216;48;60;60;48;48;159;48	ENSP00000283148:E221K;ENSP00000438265:E159K;ENSP00000387019:E216K;ENSP00000387096:E48K;ENSP00000394334:E60K;ENSP00000416656:E60K;ENSP00000403612:E48K;ENSP00000404468:E48K;ENSP00000399316:E159K;ENSP00000397049:E48K	ENSP00000283148:E221K	E	-	1	0	UXS1	106105956	1.000000	0.71417	0.968000	0.41197	0.980000	0.70556	7.372000	0.79612	2.824000	0.97209	0.655000	0.94253	GAG		0.453	UXS1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329778.1	NM_025076.3		25	62	0	0	0	0	25	62				
SULT1C3	442038	broad.mit.edu	37	2	108863754	108863754	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:108863754G>T	ENST00000329106.2	+	1	104	c.104G>T	c.(103-105)tGg>tTg	p.W35L	SULT1C3_ENST00000376700.1_Missense_Mutation_p.W35L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	35					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCAAAAGAATGGTGGGAAAAA	0.378																																						uc010ywo.1		NA																	0				skin(1)	1						c.(103-105)TGG>TTG		sulfotransferase family, cytosolic, 1C, member							95.0	104.0	101.0					2																	108863754		2203	4300	6503	SO:0001583	missense	442038					cytoplasm	alcohol sulfotransferase activity	g.chr2:108863754G>T	BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.104G>T	2.37:g.108863754G>T	ENSP00000333310:p.Trp35Leu						p.W35L	NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN			1	104	+			35					Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	c.104G>T	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	g	3.683	-0.065184	0.07273	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.01438	4.89;4.89	3.99	-5.7	0.02421	.	26.214100	0.00698	N	0.000770	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47761	-0.9092	10	0.12766	T	0.61	.	2.3333	0.04241	0.5591:0.098:0.0904:0.2524	.	35	Q6IMI6	ST1C3_HUMAN	L	35	ENSP00000333310:W35L;ENSP00000365890:W35L	ENSP00000333310:W35L	W	+	2	0	SULT1C3	108230186	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.713000	0.00386	-1.614000	0.01575	-3.079000	0.00066	TGG		0.378	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1	NM_001008743		18	53	1	0	3.99e-14	7.59e-14	18	53				
FBLN7	129804	broad.mit.edu	37	2	112944822	112944822	+	Silent	SNP	G	G	T	rs377093141		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:112944822G>T	ENST00000331203.2	+	8	1330	c.1059G>T	c.(1057-1059)acG>acT	p.T353T	FBLN7_ENST00000409450.3_Silent_p.T307T|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Silent_p.T219T	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	353					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGCCCATCACGCTCTTCCGCA	0.647																																						uc002tho.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1057-1059)ACG>ACT		fibulin 7 isoform 1							89.0	91.0	90.0					2																	112944822		2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112944822G>T		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.1059G>T	2.37:g.112944822G>T						FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Silent_p.T307T|FBLN7_uc010fkj.1_Silent_p.T219T	p.T353T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN			8	1330	+			353					A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.1059G>T	CCDS2095.1																																																																																				0.647	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		38	103	1	0	4.14e-20	8.4e-20	38	103				
SLC35F5	80255	broad.mit.edu	37	2	114503857	114503857	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:114503857A>T	ENST00000245680.2	-	5	890	c.477T>A	c.(475-477)tcT>tcA	p.S159S	SLC35F5_ENST00000409342.1_Silent_p.S153S	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	159					transport (GO:0006810)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CACTTACCAAAGAACTATTCA	0.378																																						uc002tku.1		NA																	0					0						c.(475-477)TCT>TCA		solute carrier family 35, member F5							104.0	91.0	96.0					2																	114503857		2203	4300	6503	SO:0001819	synonymous_variant	80255				transport	integral to membrane		g.chr2:114503857A>T	AF529364	CCDS2119.1	2q14.1	2013-05-22			ENSG00000115084	ENSG00000115084		"""Solute carriers"""	23617	protein-coding gene	gene with protein product							Standard	XM_005263799		Approved	FLJ22004	uc002tku.1	Q8WV83	OTTHUMG00000131361	ENST00000245680.2:c.477T>A	2.37:g.114503857A>T						SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.S153S|SLC35F5_uc002tkw.2_Silent_p.S159S	p.S159S	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN			5	901	-			159					Q9H6P8|Q9H7D8	Silent	SNP	ENST00000245680.2	37	c.477T>A	CCDS2119.1																																																																																				0.378	SLC35F5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254150.1	NM_025181		16	39	0	0	0	0	16	39				
STEAP3	55240	broad.mit.edu	37	2	120003239	120003239	+	Missense_Mutation	SNP	T	T	A	rs185132453		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:120003239T>A	ENST00000354888.5	+	3	671	c.167T>A	c.(166-168)gTg>gAg	p.V56E	STEAP3_ENST00000393108.2_Missense_Mutation_p.V56E|STEAP3_ENST00000393107.2_Missense_Mutation_p.V56E|STEAP3_ENST00000393110.2_Missense_Mutation_p.V66E|STEAP3_ENST00000450943.2_Missense_Mutation_p.V56E|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393106.2_Missense_Mutation_p.V56E|STEAP3_ENST00000409811.1_Missense_Mutation_p.V56E|STEAP3_ENST00000425223.2_Missense_Mutation_p.V56E	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	56					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						AAAGTGGTGGTGGGGAGCCGC	0.637																																						uc002tlp.2		NA																	0				central_nervous_system(2)|skin(1)	3						c.(166-168)GTG>GAG		dudulin 2 isoform b							40.0	38.0	38.0					2																	120003239		2203	4300	6503	SO:0001583	missense	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120003239T>A	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.167T>A	2.37:g.120003239T>A	ENSP00000346961:p.Val56Glu					STEAP3_uc002tlq.2_Missense_Mutation_p.V66E|STEAP3_uc002tlr.2_Missense_Mutation_p.V56E|STEAP3_uc010fle.2_Missense_Mutation_p.V56E	p.V56E	NM_018234	NP_060704	Q658P3	STEA3_HUMAN			3	324	+			56			Cytoplasmic (Potential).		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Missense_Mutation	SNP	ENST00000354888.5	37	c.167T>A	CCDS2125.1	.	.	.	.	.	.	.	.	.	.	T	26.9	4.782844	0.90282	.	.	ENSG00000115107	ENST00000393108;ENST00000354888;ENST00000450943;ENST00000393110;ENST00000393106;ENST00000409811;ENST00000393107;ENST00000425223	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	4.96	4.96	0.65561	NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	T	0.73133	0.3548	M	0.90145	3.09	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.81914	0.995;0.983;0.97	T	0.79225	-0.1891	9	.	.	.	-23.5649	13.9669	0.64213	0.0:0.0:0.0:1.0	.	56;66;56	B8ZZX6;Q658P3-2;Q658P3	.;.;STEA3_HUMAN	E	56;56;56;66;56;56;56;56	ENSP00000376820:V56E;ENSP00000346961:V56E;ENSP00000396873:V56E;ENSP00000376822:V66E;ENSP00000376818:V56E;ENSP00000386510:V56E;ENSP00000376819:V56E;ENSP00000396214:V56E	.	V	+	2	0	STEAP3	119719709	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.859000	0.86982	2.083000	0.62718	0.533000	0.62120	GTG		0.637	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		11	31	0	0	0	0	11	31				
GLI2	2736	broad.mit.edu	37	2	121747847	121747847	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:121747847A>G	ENST00000452319.1	+	14	4417	c.4357A>G	c.(4357-4359)Atg>Gtg	p.M1453V	GLI2_ENST00000361492.4_Missense_Mutation_p.M1453V|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCAGATCCACATGTACGAACA	0.657																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(4357-4359)ATG>GTG		GLI-Kruppel family member GLI2							59.0	63.0	62.0					2																	121747847		2203	4300	6503	SO:0001583	missense	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121747847A>G		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4357A>G	2.37:g.121747847A>G	ENSP00000390436:p.Met1453Val					GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.M1125V|GLI2_uc002tmu.3_Missense_Mutation_p.M1108V	p.M1453V	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	4387	+	Renal(3;0.0496)	Prostate(154;0.0623)	1453						Missense_Mutation	SNP	ENST00000452319.1	37	c.4357A>G	CCDS33283.1	.	.	.	.	.	.	.	.	.	.	A	17.02	3.281083	0.59758	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.18657	2.2;2.2	4.89	4.89	0.63831	.	0.042036	0.85682	D	0.000000	T	0.28928	0.0718	M	0.77820	2.39	0.80722	D	1	P;P	0.40970	0.473;0.734	B;B	0.39503	0.056;0.301	T	0.11275	-1.0594	9	.	.	.	.	14.6681	0.68924	1.0:0.0:0.0:0.0	.	1453;1108	P10070;P10070-2	GLI2_HUMAN;.	V	1453	ENSP00000390436:M1453V;ENSP00000354586:M1453V	.	M	+	1	0	GLI2	121464317	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.771000	0.68881	2.050000	0.60909	0.454000	0.30748	ATG		0.657	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		24	64	0	0	0	0	24	64				
CNTNAP5	129684	broad.mit.edu	37	2	125175132	125175132	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:125175132T>C	ENST00000431078.1	+	4	858	c.494T>C	c.(493-495)aTt>aCt	p.I165T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	165	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGTGGGAAGATTGGCATGAGA	0.498																																						uc002tno.2		NA																	0				ovary(10)	10						c.(493-495)ATT>ACT		contactin associated protein-like 5 precursor							91.0	95.0	94.0					2																	125175132		1983	4160	6143	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125175132T>C	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.494T>C	2.37:g.125175132T>C	ENSP00000399013:p.Ile165Thr					CNTNAP5_uc010flu.2_Missense_Mutation_p.I165T	p.I165T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	4	858	+			165			F5/8 type C.|Extracellular (Potential).		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.494T>C	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571893	0.86542	.	.	ENSG00000155052	ENST00000431078	D	0.98455	-4.94	6.17	6.17	0.99709	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.49305	D	0.000142	D	0.99137	0.9702	M	0.91300	3.195	0.51767	D	0.999937	D	0.89917	1.0	D	0.87578	0.998	D	0.99453	1.0941	10	0.56958	D	0.05	.	15.6572	0.77150	0.0:0.0:0.0:1.0	.	165	Q8WYK1	CNTP5_HUMAN	T	165	ENSP00000399013:I165T	ENSP00000399013:I165T	I	+	2	0	CNTNAP5	124891602	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	5.785000	0.68998	2.371000	0.80710	0.533000	0.62120	ATT		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	16	0	0	0	0	3	16				
AMER3	205147	broad.mit.edu	37	2	131520349	131520349	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:131520349G>A	ENST00000423981.1	+	2	814	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	AMER3_ENST00000321420.4_Missense_Mutation_p.C235Y	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	235					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGGGCCCTGTGTGAGGACGTG	0.662																																						uc002trw.2		NA																	0				pancreas(2)|ovary(1)	3						c.(703-705)TGT>TAT		hypothetical protein LOC205147							56.0	64.0	61.0					2																	131520349		2202	4300	6502	SO:0001583	missense	205147							g.chr2:131520349G>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.704G>A	2.37:g.131520349G>A	ENSP00000392700:p.Cys235Tyr					FAM123C_uc010fmv.2_Missense_Mutation_p.C235Y|FAM123C_uc010fms.1_Missense_Mutation_p.C235Y|FAM123C_uc010fmt.1_Missense_Mutation_p.C235Y|FAM123C_uc010fmu.1_Missense_Mutation_p.C235Y	p.C235Y	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	894	+	Colorectal(110;0.1)		235					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.704G>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794717	0.50102	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.17691	2.26;2.26	5.21	5.21	0.72293	.	0.124181	0.56097	D	0.000030	T	0.40423	0.1116	M	0.63428	1.95	0.39522	D	0.968527	D	0.89917	1.0	D	0.91635	0.999	T	0.17961	-1.0352	10	0.54805	T	0.06	.	16.6282	0.84992	0.0:0.0:1.0:0.0	.	235	Q8N944	F123C_HUMAN	Y	235	ENSP00000314914:C235Y;ENSP00000392700:C235Y	ENSP00000314914:C235Y	C	+	2	0	FAM123C	131236819	1.000000	0.71417	0.998000	0.56505	0.589000	0.36550	6.513000	0.73742	2.597000	0.87782	0.561000	0.74099	TGT		0.662	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		26	130	0	0	0	0	26	130				
NCKAP5	344148	broad.mit.edu	37	2	133540264	133540264	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:133540264G>C	ENST00000409261.1	-	14	4493	c.4120C>G	c.(4120-4122)Cca>Gca	p.P1374A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1374A|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1374										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGACTTTGGAGGGATCCTC	0.622																																						uc002ttp.2		NA																	0					0						c.(4120-4122)CCA>GCA		Nck-associated protein 5 isoform 1							49.0	51.0	50.0					2																	133540264		1959	4142	6101	SO:0001583	missense	344148						protein binding	g.chr2:133540264G>C	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4120C>G	2.37:g.133540264G>C	ENSP00000387128:p.Pro1374Ala					NCKAP5_uc002ttq.2_Intron	p.P1374A	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	4494	-			1374					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.4120C>G	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	0.230	-1.022031	0.02061	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09817	2.94;2.94	5.5	3.67	0.42095	.	0.195146	0.24781	U	0.035660	T	0.08626	0.0214	L	0.29908	0.895	0.19945	N	0.999946	B	0.29590	0.25	B	0.31495	0.131	T	0.25433	-1.0132	10	0.42905	T	0.14	.	8.7858	0.34821	0.0752:0.0:0.7709:0.1538	.	1374	O14513	NCKP5_HUMAN	A	1374	ENSP00000387128:P1374A;ENSP00000380603:P1374A	ENSP00000380603:P1374A	P	-	1	0	NCKAP5	133256734	1.000000	0.71417	0.008000	0.14137	0.052000	0.14988	2.156000	0.42310	0.836000	0.34901	-0.136000	0.14681	CCA		0.622	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		15	30	0	0	0	0	15	30				
ORC4	5000	broad.mit.edu	37	2	148696734	148696734	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:148696734C>A	ENST00000392857.5	-	11	1040	c.933G>T	c.(931-933)atG>atT	p.M311I	ORC4_ENST00000488761.1_5'Flank|ORC4_ENST00000542387.1_Missense_Mutation_p.M94I|AC009480.1_ENST00000584553.1_RNA|ORC4_ENST00000535373.1_Missense_Mutation_p.M311I|ORC4_ENST00000264169.2_Missense_Mutation_p.M311I|ORC4_ENST00000536575.1_Missense_Mutation_p.M227I|ORC4_ENST00000392858.1_Missense_Mutation_p.M311I|ORC4_ENST00000540442.1_Missense_Mutation_p.M237I	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	311					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTTTCGAGTCCATGCTACACA	0.358																																						uc002twi.2		NA																	0					0						c.(931-933)ATG>ATT		origin recognition complex subunit 4							170.0	152.0	158.0					2																	148696734		2203	4300	6503	SO:0001583	missense	5000				cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	g.chr2:148696734C>A	AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.933G>T	2.37:g.148696734C>A	ENSP00000376597:p.Met311Ile					ORC4L_uc002twj.2_Missense_Mutation_p.M311I|ORC4L_uc010zbo.1_Missense_Mutation_p.M237I|ORC4L_uc010zbp.1_Missense_Mutation_p.M94I|ORC4L_uc010fnr.2_Missense_Mutation_p.M311I|ORC4L_uc010zbq.1_Missense_Mutation_p.M227I|ORC4L_uc002twk.2_Missense_Mutation_p.M311I|ORC4L_uc010zbr.1_Missense_Mutation_p.M311I|ORC4L_uc002twl.1_5'Flank	p.M311I	NM_181741	NP_859525	O43929	ORC4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)	11	1068	-			311					B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	c.933G>T	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387659	0.42308	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.73	5.73	0.89815	.	0.305787	0.43110	D	0.000614	T	0.69860	0.3158	L	0.42245	1.32	0.31484	N	0.666852	B;B;B	0.19583	0.037;0.015;0.015	B;B;B	0.12837	0.008;0.008;0.008	T	0.66893	-0.5808	10	0.36615	T	0.2	-11.8234	19.4912	0.95050	0.0:1.0:0.0:0.0	.	311;311;311	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	I	311;311;311;237;227;311;94	ENSP00000264169:M311I;ENSP00000441953:M311I;ENSP00000376598:M311I;ENSP00000438326:M237I;ENSP00000441502:M227I;ENSP00000376597:M311I;ENSP00000437440:M94I	ENSP00000264169:M311I	M	-	3	0	ORC4	148413204	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	2.006000	0.40874	2.699000	0.92147	0.655000	0.94253	ATG		0.358	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		14	31	1	0	2.32e-09	4.08e-09	14	31				
FAP	2191	broad.mit.edu	37	2	163027550	163027550	+	Missense_Mutation	SNP	G	G	T	rs138652824	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:163027550G>T	ENST00000188790.4	-	26	2429	c.2222C>A	c.(2221-2223)aCg>aAg	p.T741K	FAP_ENST00000443424.1_Missense_Mutation_p.T716K|AC007750.5_ENST00000418968.3_RNA|AC007750.5_ENST00000609668.1_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.T741K(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAAGTGGTTCGTGGACAGGCC	0.433																																						uc002ucd.2		NA																	1	Substitution - Missense(1)	p.T741K(1)	ovary(1)	ovary(3)	3						c.(2221-2223)ACG>AAG		fibroblast activation protein, alpha subunit							147.0	147.0	147.0					2																	163027550		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163027550G>T	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.2222C>A	2.37:g.163027550G>T	ENSP00000188790:p.Thr741Lys					FAP_uc010fpc.2_Missense_Mutation_p.T290K|FAP_uc010zct.1_Missense_Mutation_p.T716K|FAP_uc010fpd.2_Missense_Mutation_p.T220K	p.T741K	NM_004460	NP_004451	Q12884	SEPR_HUMAN			26	2430	-			741			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000188790.4	37	c.2222C>A	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.565030	0.27915	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.25912	1.77;1.77	5.6	3.75	0.43078	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.591873	0.18039	N	0.153678	T	0.09202	0.0227	N	0.11673	0.155	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.14023	0.01;0.0;0.003	T	0.37865	-0.9687	10	0.05436	T	0.98	-22.0058	1.9767	0.03417	0.1524:0.1394:0.4388:0.2694	.	716;220;741	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	K	741;716	ENSP00000188790:T741K;ENSP00000411391:T716K	ENSP00000188790:T741K	T	-	2	0	FAP	162735796	0.058000	0.20735	0.978000	0.43139	0.607000	0.37147	0.616000	0.24344	0.687000	0.31509	0.655000	0.94253	ACG		0.433	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			28	38	1	0	7.38e-10	1.31e-09	28	38				
SCN3A	6328	broad.mit.edu	37	2	166019263	166019263	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:166019263C>A	ENST00000360093.3	-	8	1261	c.770G>T	c.(769-771)tGt>tTt	p.C257F	SCN3A_ENST00000283254.7_Missense_Mutation_p.C257F|SCN3A_ENST00000409101.3_Missense_Mutation_p.C257F	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	257					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGCTCAGACAGAACACAGT	0.478																																						uc002ucx.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(769-771)TGT>TTT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						133.0	128.0	130.0					2																	166019263		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019263C>A	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.770G>T	2.37:g.166019263C>A	ENSP00000353206:p.Cys257Phe					SCN3A_uc002ucy.2_Missense_Mutation_p.C257F|SCN3A_uc002ucz.2_Missense_Mutation_p.C257F|SCN3A_uc002uda.1_Missense_Mutation_p.C126F|SCN3A_uc002udb.1_Missense_Mutation_p.C126F	p.C257F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			8	1262	-			257			Helical; Name=S5 of repeat I; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.770G>T		.	.	.	.	.	.	.	.	.	.	C	20.2	3.957650	0.73902	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98296	-4.85;-4.85;-4.85;-4.85	6.03	6.03	0.97812	Ion transport (1);	0.000000	0.64402	D	0.000003	D	0.98359	0.9455	L	0.38649	1.16	0.80722	D	1	D;D;D;B;D	0.76494	0.997;0.999;0.999;0.164;0.999	D;D;D;B;D	0.85130	0.996;0.984;0.997;0.35;0.996	D	0.99862	1.1084	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	257;257;257;257;257	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	F	257	ENSP00000353206:C257F;ENSP00000283254:C257F;ENSP00000386726:C257F;ENSP00000403348:C257F	ENSP00000283254:C257F	C	-	2	0	SCN3A	165727509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	TGT		0.478	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		37	36	1	0	1.91e-15	3.71e-15	37	36				
XIRP2	129446	broad.mit.edu	37	2	168105477	168105477	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:168105477A>T	ENST00000409195.1	+	9	7664	c.7575A>T	c.(7573-7575)ccA>ccT	p.P2525P	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.P2525P|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P2303P	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2350					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTCATTTCCAGAGAGTTCAG	0.348																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(7573-7575)CCA>CCT		xin actin-binding repeat containing 2 isoform 1							93.0	89.0	90.0					2																	168105477		1811	4064	5875	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168105477A>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7575A>T	2.37:g.168105477A>T						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P2350P|XIRP2_uc010fpq.2_Silent_p.P2303P|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron	p.P2525P	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	7593	+			2350					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.7575A>T	CCDS42769.1																																																																																				0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		32	51	0	0	0	0	32	51				
LRP2	4036	broad.mit.edu	37	2	170096254	170096254	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:170096254A>T	ENST00000263816.3	-	26	4362	c.4077T>A	c.(4075-4077)ggT>ggA	p.G1359G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1359	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CGTGAGTACAACCACCATTGA	0.383																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(4075-4077)GGT>GGA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						72.0	73.0	73.0					2																	170096254		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170096254A>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4077T>A	2.37:g.170096254A>T							p.G1359G	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	26	4290	-			1359			Extracellular (Potential).|EGF-like 5.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.4077T>A	CCDS2232.1																																																																																				0.383	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		17	27	0	0	0	0	17	27				
SSB	6741	broad.mit.edu	37	2	170667535	170667535	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:170667535A>G	ENST00000409333.1	+	10	1225	c.978A>G	c.(976-978)ctA>ctG	p.L326L	METTL5_ENST00000409837.1_Intron|SSB_ENST00000260956.4_Silent_p.L326L			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	326					histone mRNA metabolic process (GO:0008334)|tRNA modification (GO:0006400)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						AAGAATCCCTAAACAAATGGA	0.333																																						uc002ufk.2		NA																	0				skin(3)|pancreas(1)	4						c.(976-978)CTA>CTG		autoantigen La							47.0	48.0	48.0					2																	170667535		2203	4300	6503	SO:0001819	synonymous_variant	6741				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	g.chr2:170667535A>G		CCDS2237.1	2q31.1	2014-02-14		2005-06-16	ENSG00000138385	ENSG00000138385		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	11316	protein-coding gene	gene with protein product	"""La ribonucleoprotein domain family, member 3"""	109090					Standard	NM_003142		Approved	LARP3, La, La/SSB	uc002ufk.3	P05455	OTTHUMG00000132212	ENST00000409333.1:c.978A>G	2.37:g.170667535A>G						SSB_uc002ufl.2_Silent_p.L326L|SSB_uc002ufm.2_Silent_p.L326L	p.L326L	NM_003142	NP_003133	P05455	LA_HUMAN			10	1085	+			326					Q15367|Q53XJ4	Silent	SNP	ENST00000409333.1	37	c.978A>G	CCDS2237.1																																																																																				0.333	SSB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333316.1	NM_003142		14	27	0	0	0	0	14	27				
TTN	7273	broad.mit.edu	37	2	179392225	179392225	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:179392225A>G	ENST00000591111.1	-	312	102929	c.102705T>C	c.(102703-102705)aaT>aaC	p.N34235N	TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.N26811N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.N27003N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN_ENST00000342992.6_Silent_p.N33308N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.N26936N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000589042.1_Silent_p.N35876N|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	34235	Ser-rich.				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)			GTTGTGTCATATTAGATATTC	0.403																																						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.(99922-99924)AAT>AAC		titin isoform N2-A							136.0	127.0	130.0					2																	179392225		1843	4110	5953	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179392225A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.102705T>C	2.37:g.179392225A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.N27003N|TTN_uc010zfi.1_Silent_p.N26936N|TTN_uc010zfj.1_Silent_p.N26811N|TTN_uc002umq.2_Intron	p.N33308N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		311	100148	-			34235					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	Silent	SNP	ENST00000591111.1	37	c.99924T>C																																																																																					0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	56	0	0	0	0	38	56				
TTN	7273	broad.mit.edu	37	2	179457788	179457788	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:179457788A>T	ENST00000591111.1	-	250	54359	c.54135T>A	c.(54133-54135)aaT>aaA	p.N18045K	TTN_ENST00000460472.2_Missense_Mutation_p.N10621K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N10813K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N17118K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N10746K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N19686K			Q8WZ42	TITIN_HUMAN	titin	18045	Fibronectin type-III 31. {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)			TTGCTTCAGGATTAACAGGTG	0.358																																						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.(51352-51354)AAT>AAA		titin isoform N2-A							91.0	87.0	88.0					2																	179457788		1865	4122	5987	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179457788A>T	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.54135T>A	2.37:g.179457788A>T	ENSP00000465570:p.Asn18045Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N10813K|TTN_uc010zfi.1_Missense_Mutation_p.N10746K|TTN_uc010zfj.1_Missense_Mutation_p.N10621K	p.N17118K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		249	51578	-			18045					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.51354T>A		.	.	.	.	.	.	.	.	.	.	A	10.86	1.471191	0.26423	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	6.16	3.76	0.43208	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53948	0.1828	N	0.12569	0.235	0.36832	D	0.886951	D;D;D;D	0.67145	0.996;0.996;0.996;0.996	P;P;P;D	0.65233	0.904;0.904;0.904;0.933	T	0.62992	-0.6736	9	0.87932	D	0	.	8.5664	0.33543	0.7795:0.0:0.2205:0.0	.	10621;10746;10813;18045	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	17118;10621;10813;10746;10619	ENSP00000343764:N17118K;ENSP00000434586:N10621K;ENSP00000340554:N10813K;ENSP00000352154:N10746K	ENSP00000340554:N10813K	N	-	3	2	TTN	179166034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.836000	0.27545	1.140000	0.42260	0.528000	0.53228	AAT		0.358	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		45	52	0	0	0	0	45	52				
TTN	7273	broad.mit.edu	37	2	179482516	179482516	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:179482516A>T	ENST00000591111.1	-	203	42863	c.42639T>A	c.(42637-42639)gcT>gcA	p.A14213A	TTN_ENST00000460472.2_Silent_p.A6789A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.A6981A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.A13286A|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.A6914A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.A15854A|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14213	Fibronectin type-III 2. {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)			CAATTGGATCAGCAACTTTGA	0.388																																						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.(39856-39858)GCT>GCA		titin isoform N2-A							129.0	119.0	122.0					2																	179482516		1915	4122	6037	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482516A>T	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.42639T>A	2.37:g.179482516A>T						TTN_uc010zfh.1_Silent_p.A6981A|TTN_uc010zfi.1_Silent_p.A6914A|TTN_uc010zfj.1_Silent_p.A6789A	p.A13286A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		202	40082	-			14213					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	Silent	SNP	ENST00000591111.1	37	c.39858T>A																																																																																					0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	35	0	0	0	0	17	35				
COL3A1	1281	broad.mit.edu	37	2	189854843	189854843	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:189854843C>A	ENST00000304636.3	+	9	882	c.712C>A	c.(712-714)Cga>Aga	p.R238R	COL3A1_ENST00000317840.5_Silent_p.R238R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	238	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R238*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	TAGACCCGGACGACCTGGAGA	0.383																																						uc002uqj.1		NA																	1	Substitution - Nonsense(1)		large_intestine(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13						c.(712-714)CGA>AGA		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						71.0	73.0	72.0					2																	189854843		2203	4300	6503	SO:0001819	synonymous_variant	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189854843C>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.712C>A	2.37:g.189854843C>A						COL3A1_uc010frw.1_5'Flank	p.R238R	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		9	829	+			238			Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Silent	SNP	ENST00000304636.3	37	c.712C>A	CCDS2297.1																																																																																				0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		13	23	1	0	0.00244969	0.00356876	13	23				
PLCL1	5334	broad.mit.edu	37	2	198950550	198950550	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:198950550A>T	ENST00000428675.1	+	2	2707	c.2309A>T	c.(2308-2310)cAg>cTg	p.Q770L	PLCL1_ENST00000437704.2_Missense_Mutation_p.Q672L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	770	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAACTGTACAGCAAAACAGT	0.408																																						uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(2308-2310)CAG>CTG		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						101.0	95.0	97.0					2																	198950550		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950550A>T	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2309A>T	2.37:g.198950550A>T	ENSP00000402861:p.Gln770Leu					PLCL1_uc002uuv.3_Missense_Mutation_p.Q691L	p.Q770L	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	2600	+			770			C2.		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.2309A>T	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	A	9.161	1.018639	0.19355	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.69561	-0.41;-0.41	5.36	5.36	0.76844	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093630	0.47093	D	0.000241	T	0.56949	0.2020	L	0.35854	1.095	0.49483	D	0.999792	B;B	0.10296	0.003;0.003	B;B	0.14023	0.01;0.01	T	0.51957	-0.8639	9	.	.	.	.	15.5299	0.75952	1.0:0.0:0.0:0.0	.	770;696	Q15111;B4DYZ4	PLCL1_HUMAN;.	L	770;672	ENSP00000402861:Q770L;ENSP00000414138:Q672L	.	Q	+	2	0	PLCL1	198658795	0.997000	0.39634	0.996000	0.52242	0.994000	0.84299	4.937000	0.63513	2.254000	0.74563	0.459000	0.35465	CAG		0.408	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		20	37	0	0	0	0	20	37				
CASP8	841	broad.mit.edu	37	2	202137359	202137359	+	Splice_Site	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:202137359A>G	ENST00000432109.2	+	5	600		c.e5-1		CASP8_ENST00000264274.9_Splice_Site|CASP8_ENST00000358485.4_Splice_Site|CASP8_ENST00000323492.7_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000264275.5_Splice_Site	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|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)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCTCCTCTTAGAACCTGCTG	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.e5-2		caspase 8 isoform B precursor							98.0	103.0	101.0					2																	202137359		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202137359A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.412-1A>G	2.37:g.202137359A>G		HNSCC(4;0.00038)				CASP8_uc010ftc.1_Splice_Site_p.N138_splice|CASP8_uc002uxo.1_Splice_Site_p.N138_splice|CASP8_uc002uxp.1_Splice_Site_p.N170_splice|CASP8_uc002uxq.1_Splice_Site_p.N138_splice|CASP8_uc002uxs.1_Splice_Site_p.N138_splice|CASP8_uc002uxt.1_Splice_Site_p.N197_splice|CASP8_uc002uxu.1_Splice_Site|CASP8_uc010ftd.1_Splice_Site_p.N35_splice|CASP8_uc002uxv.1_Splice_Site_p.N138_splice|CASP8_uc002uxw.1_Splice_Site_p.N138_splice|CASP8_uc002uxy.1_Splice_Site_p.N138_splice|CASP8_uc002uxx.1_Splice_Site_p.N138_splice|CASP8_uc010ftf.2_Splice_Site_p.N138_splice|CASP8_uc010fte.1_Splice_Site_p.N35_splice	p.N138_splice	NM_033355	NP_203519	Q14790	CASP8_HUMAN			5	621	+								O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37	c.412_splice	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	8.540	0.872995	0.17322	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000450491;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6891	0.62535	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CASP8	201845604	1.000000	0.71417	0.503000	0.27626	0.069000	0.16628	6.429000	0.73387	2.166000	0.68216	0.477000	0.44152	.		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Intron	27	52	0	0	0	0	27	52				
ZDBF2	57683	broad.mit.edu	37	2	207176110	207176110	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:207176110G>T	ENST00000374423.3	+	5	7244	c.6858G>T	c.(6856-6858)atG>atT	p.M2286I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2286							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAGCGCTATGGCAAATCCTC	0.507																																						uc002vbp.2		NA																	0				ovary(3)	3						c.(6856-6858)ATG>ATT		zinc finger, DBF-type containing 2							33.0	34.0	34.0					2																	207176110		1910	4141	6051	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207176110G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.6858G>T	2.37:g.207176110G>T	ENSP00000363545:p.Met2286Ile						p.M2286I	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	7108	+			2286					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.6858G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.021855	0.00042	.	.	ENSG00000204186	ENST00000374423	T	0.37235	1.21	5.24	-10.5	0.00291	.	.	.	.	.	T	0.08758	0.0217	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09840	-1.0656	9	0.12103	T	0.63	.	3.623	0.08103	0.1608:0.3489:0.3341:0.1562	.	2286	Q9HCK1	ZDBF2_HUMAN	I	2286	ENSP00000363545:M2286I	ENSP00000363545:M2286I	M	+	3	0	ZDBF2	206884355	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.925000	0.00169	-4.237000	0.00062	-4.070000	0.00012	ATG		0.507	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		8	4	1	0	0.000274275	0.000411185	8	4				
IDH1	3417	broad.mit.edu	37	2	209116227	209116227	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:209116227C>T	ENST00000415913.1	-	3	430	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	IDH1_ENST00000446179.1_Missense_Mutation_p.E17K|IDH1_ENST00000345146.2_Missense_Mutation_p.E17K	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	17					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CGTGTCATTTCATCTCCTTGC	0.358			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2		NA		Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		0				central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868						c.(49-51)GAA>AAA		isocitrate dehydrogenase 1 (NADP+), soluble							62.0	64.0	63.0					2																	209116227		2203	4299	6502	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209116227C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.49G>A	2.37:g.209116227C>T	ENSP00000390265:p.Glu17Lys					IDH1_uc002vct.2_Missense_Mutation_p.E17K|IDH1_uc002vcu.2_Missense_Mutation_p.E17K	p.E17K	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	295	-			17					Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.49G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	33	5.211668	0.95069	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282;ENST00000417583;ENST00000451391	T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.48	4.6	0.57074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	H	0.99211	4.47	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.95317	0.8417	10	0.87932	D	0	-10.9525	13.9838	0.64321	0.0:0.9272:0.0:0.0728	.	17	O75874	IDHC_HUMAN	K	17	ENSP00000260985:E17K;ENSP00000410513:E17K;ENSP00000390265:E17K;ENSP00000391075:E17K;ENSP00000409045:E17K;ENSP00000396787:E17K	ENSP00000260985:E17K	E	-	1	0	IDH1	208824472	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	1.306000	0.44926	0.650000	0.86243	GAA		0.358	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	31	0	0	0	0	27	31				
PTH2R	5746	broad.mit.edu	37	2	209308084	209308084	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:209308084G>A	ENST00000272847.2	+	6	734	c.521G>A	c.(520-522)tGc>tAc	p.C174Y	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	174					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	CGATTGCATTGCACTAGGAAC	0.418																																						uc002vdb.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(520-522)TGC>TAC		parathyroid hormone 2 receptor precursor							93.0	85.0	88.0					2																	209308084		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308084G>A	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.521G>A	2.37:g.209308084G>A	ENSP00000272847:p.Cys174Tyr					PTH2R_uc010zjb.1_Missense_Mutation_p.C185Y	p.C174Y	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	734	+			174			Cytoplasmic (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.521G>A	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116554	0.77323	.	.	ENSG00000144407	ENST00000272847	T	0.52295	0.67	5.08	5.08	0.68730	GPCR, family 2-like (1);	0.000000	0.53938	D	0.000057	T	0.79311	0.4424	H	0.96576	3.845	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86643	0.1893	10	0.87932	D	0	.	15.9447	0.79784	0.0:0.0:1.0:0.0	.	63;174	B4DFN8;P49190	.;PTH2R_HUMAN	Y	174	ENSP00000272847:C174Y	ENSP00000272847:C174Y	C	+	2	0	PTH2R	209016329	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.994000	0.93529	2.363000	0.80096	0.585000	0.79938	TGC		0.418	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		17	20	0	0	0	0	17	20				
ACADL	33	broad.mit.edu	37	2	211085399	211085399	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:211085399G>T	ENST00000233710.3	-	2	432	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	69					carnitine catabolic process (GO:0042413)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid catabolic process (GO:0044242)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|long-chain fatty acid catabolic process (GO:0042758)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|oxidation-reduction process (GO:0055114)|protein homotetramerization (GO:0051289)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|palmitoyl-CoA oxidase activity (GO:0016401)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ACTTCTTCTTGGAAAAACTTC	0.358																																						uc002vdz.3		NA																	0					0						c.(205-207)CAA>AAA		long-chain acyl-CoA dehydrogenase precursor							115.0	118.0	117.0					2																	211085399		2203	4300	6503	SO:0001583	missense	33				carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity	g.chr2:211085399G>T	M74096	CCDS2389.1	2q34	2012-07-13	2010-04-30		ENSG00000115361	ENSG00000115361	1.3.99.13		88	protein-coding gene	gene with protein product		609576	"""acyl-Coenzyme A dehydrogenase, long chain"""			1774065	Standard	NM_001608		Approved	LCAD, ACAD4	uc002vdz.4	P28330	OTTHUMG00000132989	ENST00000233710.3:c.205C>A	2.37:g.211085399G>T	ENSP00000233710:p.Gln69Lys					ACADL_uc010zjg.1_Missense_Mutation_p.Q69K	p.Q69K	NM_001608	NP_001599	P28330	ACADL_HUMAN		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)	2	433	-		Renal(323;0.202)	69					B2R8T3|Q8IUN8	Missense_Mutation	SNP	ENST00000233710.3	37	c.205C>A	CCDS2389.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.619003	0.66787	.	.	ENSG00000115361	ENST00000233710	D	0.99698	-6.44	5.69	5.69	0.88448	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, N-terminal (1);Acyl-CoA dehydrogenase/oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98741	0.9577	L	0.31752	0.955	0.80722	D	1	B	0.16166	0.016	B	0.26310	0.068	D	0.96831	0.9611	10	0.41790	T	0.15	.	19.821	0.96592	0.0:0.0:1.0:0.0	.	69	P28330	ACADL_HUMAN	K	69	ENSP00000233710:Q69K	ENSP00000233710:Q69K	Q	-	1	0	ACADL	210793644	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.709000	0.74665	2.683000	0.91414	0.655000	0.94253	CAA		0.358	ACADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256561.2	NM_001608		18	23	1	0	1.01e-13	1.91e-13	18	23				
ABCA12	26154	broad.mit.edu	37	2	215976318	215976318	+	Splice_Site	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:215976318A>T	ENST00000272895.7	-	2	383		c.e2+1		ABCA12_ENST00000412081.1_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATTTACTTACAAGTTGGTT	0.294																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.e2+1		ATP-binding cassette, sub-family A, member 12							57.0	64.0	62.0					2																	215976318		2203	4298	6501	SO:0001630	splice_region_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215976318A>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.163+1T>A	2.37:g.215976318A>T						ABCA12_uc010zjn.1_Splice_Site	p.C55_splice	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	2	383	-		Renal(323;0.127)						Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Splice_Site	SNP	ENST00000272895.7	37	c.163_splice	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	19.79	3.892071	0.72524	.	.	ENSG00000144452	ENST00000272895;ENST00000412081	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4788	0.55829	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA12	215684563	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.999000	0.63934	2.269000	0.75478	0.533000	0.62120	.		0.294	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	Intron	19	22	0	0	0	0	19	22				
ANKZF1	55139	broad.mit.edu	37	2	220095004	220095004	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:220095004C>T	ENST00000323348.5	+	2	199	c.25C>T	c.(25-27)Ccg>Tcg	p.P9S	ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000409618.1_5'Flank|ATG9A_ENST00000361242.4_5'Flank|ATG9A_ENST00000409422.1_5'Flank|ANKZF1_ENST00000410034.3_Missense_Mutation_p.P9S|ANKZF1_ENST00000409849.1_Intron|ATG9A_ENST00000396761.2_5'Flank	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	9						membrane (GO:0016020)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGCAGCCCCGGCTCCTGC	0.612																																						uc002vkg.2		NA																	0				ovary(2)	2						c.(25-27)CCG>TCG		ankyrin repeat and zinc finger domain containing							37.0	39.0	38.0					2																	220095004		1897	4121	6018	SO:0001583	missense	55139					intracellular	zinc ion binding	g.chr2:220095004C>T	AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.25C>T	2.37:g.220095004C>T	ENSP00000321617:p.Pro9Ser					ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.P9S|ANKZF1_uc010zkw.1_Intron|ANKZF1_uc002vkh.2_Intron|ANKZF1_uc002vki.2_Missense_Mutation_p.P9S|ANKZF1_uc002vkj.1_5'Flank	p.P9S	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	199	+		Renal(207;0.0474)	9					Q9NVZ4	Missense_Mutation	SNP	ENST00000323348.5	37	c.25C>T	CCDS42821.1	.	.	.	.	.	.	.	.	.	.	C	0.046	-1.267498	0.01433	.	.	ENSG00000163516	ENST00000323348;ENST00000416565;ENST00000410034;ENST00000447157;ENST00000436226	T;T	0.24723	1.84;1.84	5.27	1.3	0.21679	.	0.852017	0.10572	N	0.658999	T	0.09686	0.0238	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.37291	-0.9712	10	0.02654	T	1	-0.1159	5.7757	0.18277	0.0:0.5316:0.2991:0.1693	.	9;9	B4DZT1;Q9H8Y5	.;ANKZ1_HUMAN	S	9	ENSP00000321617:P9S;ENSP00000386337:P9S	ENSP00000321617:P9S	P	+	1	0	ANKZF1	219803248	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.081000	0.11321	0.058000	0.16222	-0.373000	0.07131	CCG		0.612	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335790.1	NM_018089		11	22	0	0	0	0	11	22				
DOCK10	55619	broad.mit.edu	37	2	225639746	225639746	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:225639746G>T	ENST00000258390.7	-	52	5956	c.5889C>A	c.(5887-5889)gaC>gaA	p.D1963E	DOCK10_ENST00000409592.3_Missense_Mutation_p.D1957E	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1963	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTGTCTTCCGGTCTTCGATTT	0.507																																						uc010fwz.1		NA																	0				ovary(2)	2						c.(5887-5889)GAC>GAA		dedicator of cytokinesis 10							88.0	91.0	90.0					2																	225639746		2013	4202	6215	SO:0001583	missense	55619						GTP binding	g.chr2:225639746G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5889C>A	2.37:g.225639746G>T	ENSP00000258390:p.Asp1963Glu					DOCK10_uc002vob.2_Missense_Mutation_p.D1957E|DOCK10_uc002voa.2_Missense_Mutation_p.D619E	p.D1963E	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	52	6128	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1963			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5889C>A	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.434|3.434	-0.115457|-0.115457	0.06881|0.06881	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.18502|.	2.21;2.21|.	5.48|5.48	3.65|3.65	0.41850|0.41850	.|.	0.047154|.	0.85682|.	D|.	0.000000|.	T|T	0.23370|0.23370	0.0565|0.0565	N|N	0.03983|0.03983	-0.305|-0.305	0.39396|0.39396	D|D	0.9665|0.9665	B;B;B|.	0.06786|.	0.001;0.001;0.001|.	B;B;B|.	0.10450|.	0.002;0.005;0.002|.	T|T	0.07908|0.07908	-1.0748|-1.0748	10|5	0.02654|.	T|.	1|.	.|.	7.186|7.186	0.25799|0.25799	0.207:0.1409:0.652:0.0|0.207:0.1409:0.652:0.0	.|.	1963;1957;625|.	Q96BY6;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.|.	E|T	1957;1963;470|113	ENSP00000386694:D1957E;ENSP00000258390:D1963E|.	ENSP00000258390:D1963E|.	D|P	-|-	3|1	2|0	DOCK10|DOCK10	225347990|225347990	0.957000|0.957000	0.32711|0.32711	1.000000|1.000000	0.80357|0.80357	0.735000|0.735000	0.41995|0.41995	0.028000|0.028000	0.13644|0.13644	1.450000|1.450000	0.47717|0.47717	-0.251000|-0.251000	0.11542|0.11542	GAC|CCG		0.507	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			7	14	1	0	8.13e-05	0.000124651	7	14				
SPHKAP	80309	broad.mit.edu	37	2	228881633	228881633	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:228881633A>C	ENST00000392056.3	-	7	3983	c.3937T>G	c.(3937-3939)Tcc>Gcc	p.S1313A	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1313A	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1313						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCCTCAATGGAGCTAGCCCAC	0.507																																						uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(3937-3939)TCC>GCC		sphingosine kinase type 1-interacting protein							111.0	99.0	103.0					2																	228881633		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881633A>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3937T>G	2.37:g.228881633A>C	ENSP00000375909:p.Ser1313Ala					SPHKAP_uc002vpp.2_Missense_Mutation_p.S1313A|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1313A	p.S1313A	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	3984	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1313					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.3937T>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.761036	0.49468	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.53640	0.61;0.61	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.72894	2.215	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.994;0.991;0.997	T	0.69383	-0.5160	10	0.51188	T	0.08	.	15.497	0.75662	1.0:0.0:0.0:0.0	.	344;1313;1313	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	A	1313	ENSP00000375909:S1313A;ENSP00000339886:S1313A	ENSP00000339886:S1313A	S	-	1	0	SPHKAP	228589877	1.000000	0.71417	0.997000	0.53966	0.078000	0.17371	8.605000	0.90883	2.254000	0.74563	0.533000	0.62120	TCC		0.507	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		17	27	0	0	0	0	17	27				
CHGB	1114	broad.mit.edu	37	20	5903868	5903868	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:5903868G>A	ENST00000378961.4	+	4	1282	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	360						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGGAGTGGGAGCGCTATAG	0.527																																						uc002wmg.2		NA																	0				breast(3)|skin(2)|ovary(1)	6						c.(1078-1080)GAG>AAG		chromogranin B precursor							86.0	88.0	88.0					20																	5903868		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903868G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.1078G>A	20.37:g.5903868G>A	ENSP00000368244:p.Glu360Lys					CHGB_uc010zqz.1_Missense_Mutation_p.E43K	p.E360K	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1384	+			360					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.1078G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	1.388	-0.581444	0.03854	.	.	ENSG00000089199	ENST00000378961	T	0.01599	4.74	5.37	3.37	0.38596	.	1.911260	0.02637	N	0.104888	T	0.01870	0.0059	N	0.22421	0.69	0.09310	N	1	B	0.17268	0.021	B	0.15052	0.012	T	0.49542	-0.8929	10	0.17369	T	0.5	2.8012	6.4353	0.21819	0.2198:0.1377:0.6425:0.0	.	360	P05060	SCG1_HUMAN	K	360	ENSP00000368244:E360K	ENSP00000368244:E360K	E	+	1	0	CHGB	5851868	0.009000	0.17119	0.000000	0.03702	0.054000	0.15201	1.902000	0.39848	0.598000	0.29829	0.563000	0.77884	GAG		0.527	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		33	94	0	0	0	0	33	94				
HAO1	54363	broad.mit.edu	37	20	7915261	7915261	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:7915261C>G	ENST00000378789.3	-	2	210	c.159G>C	c.(157-159)atG>atC	p.M53I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	53	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CATTCCGGAGCATCCTTGGAT	0.403																																						uc002wmw.1		NA																	0				ovary(3)	3						c.(157-159)ATG>ATC		hydroxyacid oxidase 1							50.0	43.0	45.0					20																	7915261		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7915261C>G	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.159G>C	20.37:g.7915261C>G	ENSP00000368066:p.Met53Ile					HAO1_uc010gbu.2_Missense_Mutation_p.M53I	p.M53I	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN			2	183	-			53			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.159G>C	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110365	0.08780	.	.	ENSG00000101323	ENST00000378789	T	0.27402	1.67	5.93	0.53	0.17102	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.188749	0.56097	N	0.000024	T	0.12860	0.0312	N	0.13043	0.29	0.32402	N	0.551801	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23691	-1.0181	10	0.12430	T	0.62	-1.1626	5.9077	0.19010	0.1265:0.6011:0.0:0.2724	.	53;53	A8K058;Q9UJM8	.;HAOX1_HUMAN	I	53	ENSP00000368066:M53I	ENSP00000368066:M53I	M	-	3	0	HAO1	7863261	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.837000	0.39201	0.417000	0.25871	0.655000	0.94253	ATG		0.403	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			24	54	0	0	0	0	24	54				
FLRT3	23767	broad.mit.edu	37	20	14306911	14306911	+	Silent	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:14306911A>C	ENST00000378053.3	-	2	1498	c.1242T>G	c.(1240-1242)acT>acG	p.T414T	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000462077.1_5'Flank|FLRT3_ENST00000341420.4_Silent_p.T414T|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	414	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGACTTCACAGTAATTGTAA	0.468																																						uc002wov.1		NA																	0				kidney(1)	1						c.(1240-1242)ACT>ACG		fibronectin leucine rich transmembrane protein 3							154.0	150.0	151.0					20																	14306911		2203	4300	6503	SO:0001819	synonymous_variant	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306911A>C	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1242T>G	20.37:g.14306911A>C						MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.T414T	p.T414T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	3	1709	-		Colorectal(1;0.0464)	414			Extracellular (Potential).|Fibronectin type-III.		D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	c.1242T>G	CCDS13121.1																																																																																				0.468	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		46	117	0	0	0	0	46	117				
PCSK2	5126	broad.mit.edu	37	20	17446125	17446125	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:17446125G>A	ENST00000262545.2	+	11	1672	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.V418M|PCSK2_ENST00000377899.1_Missense_Mutation_p.V434M	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	453	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGGTGCCATGGTGAAAATGGC	0.567																																						uc002wpm.2		NA																	0				ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7						c.(1357-1359)GTG>ATG		proprotein convertase subtilisin/kexin type 2	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						81.0	67.0	72.0					20																	17446125		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446125G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1357G>A	20.37:g.17446125G>A	ENSP00000262545:p.Val453Met					PCSK2_uc002wpl.2_Missense_Mutation_p.V434M|PCSK2_uc010zrm.1_Missense_Mutation_p.V418M|PCSK2_uc002wpn.2_Missense_Mutation_p.V107M	p.V453M	NM_002594	NP_002585	P16519	NEC2_HUMAN			11	1677	+			453					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1357G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821204	0.90873	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88741	-2.42;-2.42;-2.42	5.41	5.41	0.78517	Galactose-binding domain-like (1);Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.000000	0.85682	D	0.000000	D	0.96476	0.8850	H	0.96547	3.84	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.996;0.998	D	0.97655	1.0157	10	0.87932	D	0	-26.3022	17.7632	0.88470	0.0:0.0:1.0:0.0	.	418;434;453	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	M	434;453;418	ENSP00000367131:V434M;ENSP00000262545:V453M;ENSP00000437458:V418M	ENSP00000262545:V453M	V	+	1	0	PCSK2	17394125	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.461000	0.97646	2.537000	0.85549	0.555000	0.69702	GTG		0.567	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		10	20	0	0	0	0	10	20				
DTD1	92675	broad.mit.edu	37	20	18724787	18724787	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:18724787G>T	ENST00000377452.3	+	5	701	c.521G>T	c.(520-522)aGa>aTa	p.R174I		NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	174					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						GAAAAGACCAGAGCTAAGGGA	0.448																																						uc002wrf.3		NA																	0				ovary(2)	2						c.(520-522)AGA>ATA		D-tyrosyl-tRNA deacylase 1							52.0	50.0	50.0					20																	18724787		2203	4299	6502	SO:0001583	missense	92675				D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds	g.chr20:18724787G>T	AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.521G>T	20.37:g.18724787G>T	ENSP00000366672:p.Arg174Ile						p.R174I	NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN			5	682	+			174					A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	ENST00000377452.3	37	c.521G>T	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.744029	0.89663	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.27053	0.805	0.80722	D	1	D	0.56521	0.976	P	0.47528	0.549	T	0.53380	-0.8447	9	0.66056	D	0.02	-6.0338	17.0144	0.86414	0.0:0.0:1.0:0.0	.	174	Q8TEA8	DTD1_HUMAN	I	174	.	ENSP00000366672:R174I	R	+	2	0	DTD1	18672787	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.993000	0.93524	2.619000	0.88677	0.462000	0.41574	AGA		0.448	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820		12	17	1	0	3.07e-06	4.97e-06	12	17				
FOXA2	3170	broad.mit.edu	37	20	22563227	22563227	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:22563227G>A	ENST00000377115.4	-	3	816	c.635C>T	c.(634-636)tCc>tTc	p.S212F	FOXA2_ENST00000419308.2_Missense_Mutation_p.S218F	NM_153675.2	NP_710141.1	Q9Y261	FOXA2_HUMAN	forkhead box A2	212					adult locomotory behavior (GO:0008344)|cell development (GO:0048468)|cell differentiation in hindbrain (GO:0021533)|cell fate specification (GO:0001708)|chromatin modification (GO:0016568)|connective tissue development (GO:0061448)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral neural tube patterning (GO:0021904)|ectoderm formation (GO:0001705)|endocrine pancreas development (GO:0031018)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|in utero embryonic development (GO:0001701)|lung epithelial cell differentiation (GO:0060487)|negative regulation of detection of glucose (GO:2000971)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter by glucose (GO:0000433)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|regulation of blood coagulation (GO:0030193)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in detection of glucose (GO:2000976)|response to interleukin-6 (GO:0070741)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTCGTTGAAGGAGAGCGAGTG	0.607																																						uc002wsn.2		NA																	0				ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(634-636)TCC>TTC		forkhead box A2 isoform 2							51.0	55.0	53.0					20																	22563227		2203	4300	6503	SO:0001583	missense	3170				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:22563227G>A	AF147787	CCDS13147.1, CCDS46585.1	20p11	2008-04-10		2002-09-20	ENSG00000125798	ENSG00000125798		"""Forkhead boxes"""	5022	protein-coding gene	gene with protein product		600288	"""hepatocyte nuclear factor 3, beta"""	HNF3B		9119385, 11875061	Standard	NM_153675		Approved		uc002wsm.3	Q9Y261	OTTHUMG00000032041	ENST00000377115.4:c.635C>T	20.37:g.22563227G>A	ENSP00000366319:p.Ser212Phe					FOXA2_uc002wsm.2_Missense_Mutation_p.S218F	p.S212F	NM_153675	NP_710141	Q9Y261	FOXA2_HUMAN			3	825	-	Lung NSC(19;0.188)		212			Fork-head.		Q8WUW4|Q96DF7	Missense_Mutation	SNP	ENST00000377115.4	37	c.635C>T	CCDS13147.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215238	0.79352	.	.	ENSG00000125798	ENST00000377115;ENST00000419308;ENST00000319993;ENST00000444877	D;D;D	0.97665	-4.48;-4.48;-4.48	4.98	4.98	0.66077	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.56097	U	0.000025	D	0.99239	0.9735	H	0.99143	4.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98616	1.0665	10	0.87932	D	0	.	17.8574	0.88769	0.0:0.0:1.0:0.0	.	212;218	Q9Y261;B0ZTD4	FOXA2_HUMAN;.	F	212;212;218;98	ENSP00000366319:S212F;ENSP00000400341:S212F;ENSP00000315955:S218F	ENSP00000315955:S218F	S	-	2	0	FOXA2	22511227	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.773000	0.98989	2.304000	0.77564	0.574000	0.79327	TCC		0.607	FOXA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078289.1			15	37	0	0	0	0	15	37				
SSTR4	6754	broad.mit.edu	37	20	23017238	23017238	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23017238C>A	ENST00000255008.3	+	1	1182	c.1118C>A	c.(1117-1119)cCa>cAa	p.P373Q	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	373					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)	p.P373Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCCTGCAACCAGAACCCGGC	0.667																																					Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)CCA>CAA		somatostatin receptor 4							40.0	48.0	45.0					20																	23017238		2081	4203	6284	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23017238C>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.1118C>A	20.37:g.23017238C>A	ENSP00000255008:p.Pro373Gln						p.P373Q	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	1182	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		373			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.1118C>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	C	3.375	-0.127528	0.06753	.	.	ENSG00000132671	ENST00000255008	T	0.65178	-0.14	3.92	1.89	0.25635	.	1.730700	0.03659	N	0.242347	T	0.49779	0.1577	N	0.22421	0.69	0.09310	N	0.999998	B	0.12630	0.006	B	0.12837	0.008	T	0.38607	-0.9653	10	0.51188	T	0.08	.	6.9321	0.24447	0.1725:0.7314:0.0:0.0962	.	373	P31391	SSR4_HUMAN	Q	373	ENSP00000255008:P373Q	ENSP00000255008:P373Q	P	+	2	0	SSTR4	22965238	0.049000	0.20398	0.067000	0.19924	0.002000	0.02628	1.327000	0.33746	0.284000	0.22305	-0.140000	0.14226	CCA		0.667	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			24	59	1	0	1.04e-07	1.76e-07	24	59				
THBD	7056	broad.mit.edu	37	20	23029284	23029284	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23029284C>A	ENST00000377103.2	-	1	1094	c.858G>T	c.(856-858)caG>caT	p.Q286H		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	286	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|female pregnancy (GO:0007565)|leukocyte migration (GO:0050900)|negative regulation of blood coagulation (GO:0030195)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|response to cAMP (GO:0051591)|response to lipopolysaccharide (GO:0032496)|response to X-ray (GO:0010165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)|Ibuprofen(DB01050)	CGTTGCAGGACTGCGTCGCGG	0.716																																						uc002wss.2		NA																	0					0						c.(856-858)CAG>CAT		thrombomodulin precursor	Drotrecogin alfa(DB00055)						17.0	17.0	17.0					20																	23029284		2193	4291	6484	SO:0001583	missense	7056				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity	g.chr20:23029284C>A		CCDS13148.1	20p11.21	2014-09-17			ENSG00000178726	ENSG00000178726		"""CD molecules"""	11784	protein-coding gene	gene with protein product		188040					Standard	NM_000361		Approved	CD141	uc002wss.3	P07204	OTTHUMG00000032053	ENST00000377103.2:c.858G>T	20.37:g.23029284C>A	ENSP00000366307:p.Gln286His					THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.Q227H	p.Q286H	NM_000361	NP_000352	P07204	TRBM_HUMAN			1	1018	-	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		286			EGF-like 2.|Extracellular (Potential).		Q8IV29|Q9UC32	Missense_Mutation	SNP	ENST00000377103.2	37	c.858G>T	CCDS13148.1	.	.	.	.	.	.	.	.	.	.	C	0.463	-0.888269	0.02511	.	.	ENSG00000178726	ENST00000377103;ENST00000503590	T	0.80123	-1.34	4.92	-4.98	0.03019	Epidermal growth factor-like, type 3 (1);	675.313000	0.01682	N	0.026193	T	0.61035	0.2315	N	0.04705	-0.18	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53634	-0.8411	10	0.31617	T	0.26	-2.2701	8.3832	0.32483	0.0648:0.5067:0.2573:0.1712	.	286	P07204	TRBM_HUMAN	H	286;268	ENSP00000366307:Q286H	ENSP00000366307:Q286H	Q	-	3	2	THBD	22977284	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.566000	0.05922	-1.803000	0.01242	-1.943000	0.00494	CAG		0.716	THBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078307.2			10	15	1	0	0.000442599	0.000662431	10	15				
CD93	22918	broad.mit.edu	37	20	23064994	23064994	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23064994C>G	ENST00000246006.4	-	1	1983	c.1836G>C	c.(1834-1836)aaG>aaC	p.K612N		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	612					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCTCCTCCCTCTTCGCTCTCC	0.567																																						uc002wsv.2		NA																	0				large_intestine(2)	2						c.(1834-1836)AAG>AAC		CD93 antigen precursor							144.0	142.0	142.0					20																	23064994		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23064994C>G	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1836G>C	20.37:g.23064994C>G	ENSP00000246006:p.Lys612Asn						p.K612N	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			1	1984	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		612			Cytoplasmic (Potential).		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1836G>C	CCDS13149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.76|12.76	2.034576|2.034576	0.35893|0.35893	.|.	.|.	ENSG00000125810|ENSG00000125810	ENST00000413585|ENST00000246006	.|D	.|0.82984	.|-1.67	6.03|6.03	2.56|2.56	0.30785|0.30785	.|.	.|0.583453	.|0.17174	.|N	.|0.184161	D|D	0.82563|0.82563	0.5064|0.5064	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|D	.|0.59767	.|0.986	.|P	.|0.50970	.|0.655	T|T	0.73307|0.73307	-0.4024|-0.4024	6|10	0.30078|0.66056	T|D	0.28|0.02	-25.6514|-25.6514	6.2945|6.2945	0.21079|0.21079	0.1375:0.6044:0.0:0.2581|0.1375:0.6044:0.0:0.2581	.|.	.|612	.|Q9NPY3	.|C1QR1_HUMAN	Q|N	325|612	.|ENSP00000246006:K612N	ENSP00000414935:E325Q|ENSP00000246006:K612N	E|K	-|-	1|3	0|2	CD93|CD93	23012994|23012994	0.000000|0.000000	0.05858|0.05858	0.008000|0.008000	0.14137|0.14137	0.057000|0.057000	0.15508|0.15508	0.230000|0.230000	0.17852|0.17852	0.861000|0.861000	0.35504|0.35504	0.650000|0.650000	0.86243|0.86243	GAG|AAG		0.567	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		52	149	0	0	0	0	52	149				
CST8	10047	broad.mit.edu	37	20	23476506	23476506	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23476506G>C	ENST00000246012.1	+	4	741	c.384G>C	c.(382-384)tgG>tgC	p.W128C		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	128					negative regulation of endopeptidase activity (GO:0010951)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CACTTCCCTGGAATGGTGAAT	0.358																																						uc002wth.1		NA																	0					0						c.(382-384)TGG>TGC		cystatin 8 precursor							166.0	153.0	158.0					20																	23476506		2203	4300	6503	SO:0001583	missense	10047					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23476506G>C	AF059244	CCDS13156.1	20p11.21	2012-08-14			ENSG00000125815	ENSG00000125815			2480	protein-coding gene	gene with protein product		608683				7619504, 20565543	Standard	NM_005492		Approved	CRES, CTES5	uc002wth.1	O60676	OTTHUMG00000032071	ENST00000246012.1:c.384G>C	20.37:g.23476506G>C	ENSP00000246012:p.Trp128Cys						p.W128C	NM_005492	NP_005483	O60676	CST8_HUMAN			4	741	+	Colorectal(13;0.0431)|Lung NSC(19;0.235)		128					Q2M2X6	Missense_Mutation	SNP	ENST00000246012.1	37	c.384G>C	CCDS13156.1	.	.	.	.	.	.	.	.	.	.	G	9.878	1.200835	0.22121	.	.	ENSG00000125815	ENST00000449810;ENST00000246012	T;T	0.19938	2.26;2.11	4.39	3.45	0.39498	Proteinase inhibitor I25, cystatin (2);	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	M	0.90369	3.11	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.55114	-0.8191	10	0.87932	D	0	-1.5847	8.407	0.32621	0.1045:0.0:0.8955:0.0	.	128	O60676	CST8_HUMAN	C	128	ENSP00000399144:W128C;ENSP00000246012:W128C	ENSP00000246012:W128C	W	+	3	0	CST8	23424506	1.000000	0.71417	1.000000	0.80357	0.079000	0.17450	3.518000	0.53451	1.443000	0.47586	-0.136000	0.14681	TGG		0.358	CST8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078336.1			26	48	0	0	0	0	26	48				
CST5	1473	broad.mit.edu	37	20	23860133	23860133	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:23860133T>A	ENST00000304710.4	-	1	254	c.181A>T	c.(181-183)Aag>Tag	p.K61*		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	61					negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TACTCATCCTTATTAATGACC	0.557																																						uc002wtr.1		NA																	0					0						c.(181-183)AAG>TAG		cystatin D precursor							234.0	216.0	222.0					20																	23860133		2203	4300	6503	SO:0001587	stop_gained	1473					extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding	g.chr20:23860133T>A		CCDS13162.1	20p11.21	2008-04-15			ENSG00000170367	ENSG00000170367			2477	protein-coding gene	gene with protein product		123858				1939105	Standard	NM_001900		Approved		uc002wtr.1	P28325	OTTHUMG00000032089	ENST00000304710.4:c.181A>T	20.37:g.23860133T>A	ENSP00000307132:p.Lys61*						p.K61*	NM_001900	NP_001891	P28325	CYTD_HUMAN			1	248	-			61					Q5JRF5|Q9UCA0	Nonsense_Mutation	SNP	ENST00000304710.4	37	c.181A>T	CCDS13162.1	.	.	.	.	.	.	.	.	.	.	t	15.48	2.845094	0.51164	.	.	ENSG00000170367	ENST00000304710	.	.	.	1.86	1.86	0.25419	.	0.111914	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	5.7341	0.18057	0.0:0.0:0.0:1.0	.	.	.	.	X	61	.	ENSP00000307132:K61X	K	-	1	0	CST5	23808133	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.029000	0.13666	1.106000	0.41623	0.364000	0.22116	AAG		0.557	CST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078355.2	NM_001900		70	224	0	0	0	0	70	224				
ACSS1	84532	broad.mit.edu	37	20	24995843	24995843	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:24995843C>A	ENST00000323482.4	-	8	1349	c.1270G>T	c.(1270-1272)Gcc>Tcc	p.A424S	ACSS1_ENST00000537502.1_Missense_Mutation_p.A341S|ACSS1_ENST00000542618.1_Missense_Mutation_p.A303S|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000432802.2_Missense_Mutation_p.A424S	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	424					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACTCCCAGGCCTCACAGTTG	0.532																																						uc002wub.2		NA																	0				ovary(1)|skin(1)	2						c.(1270-1272)GCC>TCC		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						53.0	55.0	54.0					20																	24995843		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24995843C>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1270G>T	20.37:g.24995843C>A	ENSP00000316924:p.Ala424Ser					ACSS1_uc002wuc.2_Missense_Mutation_p.A424S|ACSS1_uc010gdc.2_Missense_Mutation_p.A219S|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A341S	p.A424S	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			8	2148	-			424					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1270G>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456740	0.84317	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.19	5.19	0.71726	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.73598	2.24	0.80722	D	1	D;P;P;P	0.89917	1.0;0.861;0.885;0.642	D;P;P;P	0.87578	0.998;0.548;0.677;0.689	T	0.70197	-0.4938	10	0.87932	D	0	-26.3003	17.3118	0.87212	0.0:1.0:0.0:0.0	.	219;424;424;341	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	S	424;219;341;424;303	ENSP00000316924:A424S;ENSP00000439304:A341S;ENSP00000388793:A424S;ENSP00000437657:A303S	ENSP00000316924:A424S	A	-	1	0	ACSS1	24943843	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.337000	0.79256	2.415000	0.81967	0.655000	0.94253	GCC		0.532	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		20	39	1	0	7.42e-09	1.28e-08	20	39				
BPIFB2	80341	broad.mit.edu	37	20	31601615	31601615	+	Splice_Site	SNP	G	G	T	rs375769397		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:31601615G>T	ENST00000170150.3	+	5	503		c.e5-1			NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2							extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										CATCCCTACAGCGCCCCAGAG	0.637																																						uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.e5-1		bactericidal/permeability-increasing							42.0	44.0	43.0					20																	31601615		2203	4300	6503	SO:0001630	splice_region_variant	80341					extracellular region	lipid binding	g.chr20:31601615G>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.309-1G>T	20.37:g.31601615G>T							p.R103_splice	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			5	503	+								Q6UWN3|Q6ZME0|Q8NFQ7	Splice_Site	SNP	ENST00000170150.3	37	c.309_splice	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306962	0.23821	.	.	ENSG00000078898	ENST00000170150	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2515	0.49028	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFB2	31065276	0.969000	0.33509	0.064000	0.19789	0.069000	0.16628	4.171000	0.58236	2.357000	0.79964	0.561000	0.74099	.		0.637	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	Intron	18	58	1	0	3.33e-07	5.55e-07	18	58				
BPIFB2	80341	broad.mit.edu	37	20	31601640	31601640	+	Silent	SNP	G	G	C	rs148455522	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:31601640G>C	ENST00000170150.3	+	5	528	c.333G>C	c.(331-333)acG>acC	p.T111T		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	111						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TGGAGCTGACGCTGCCTGTGG	0.617																																						uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(331-333)ACG>ACC		bactericidal/permeability-increasing							47.0	47.0	47.0					20																	31601640		2203	4300	6503	SO:0001819	synonymous_variant	80341					extracellular region	lipid binding	g.chr20:31601640G>C	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.333G>C	20.37:g.31601640G>C							p.T111T	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			5	527	+			111					Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	ENST00000170150.3	37	c.333G>C	CCDS13210.1																																																																																				0.617	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		10	54	0	0	0	0	10	54				
GSS	2937	broad.mit.edu	37	20	33519801	33519801	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:33519801G>T	ENST00000216951.2	-	10	1068	c.970C>A	c.(970-972)Cag>Aag	p.Q324K	GSS_ENST00000451957.2_Missense_Mutation_p.Q213K|GSS_ENST00000541098.1_Missense_Mutation_p.Q196K	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	324					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCCTCAGGCTGGCCAGGGAGC	0.632																																						uc002xbg.2		NA																	0				ovary(3)	3						c.(970-972)CAG>AAG		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						60.0	59.0	59.0					20																	33519801		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33519801G>T		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.970C>A	20.37:g.33519801G>T	ENSP00000216951:p.Gln324Lys					GSS_uc010zun.1_Missense_Mutation_p.Q196K|GSS_uc010zuo.1_Missense_Mutation_p.Q213K|GSS_uc010zup.1_Missense_Mutation_p.Q255K|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Missense_Mutation_p.Q54K	p.Q324K	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		10	1050	-			324					B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.970C>A	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032812	0.35893	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.90133	-2.62;-2.62;-2.62	5.52	4.56	0.56223	Glutathione synthase, alpha-helical, eukaryotic (1);	0.275145	0.42964	D	0.000623	T	0.81541	0.4844	N	0.20986	0.625	0.46586	D	0.999119	B;B	0.20988	0.019;0.05	B;B	0.15870	0.014;0.006	T	0.73895	-0.3838	10	0.15499	T	0.54	-12.2229	9.9681	0.41736	0.0:0.1338:0.5929:0.2733	.	213;324	B6F210;P48637	.;GSHB_HUMAN	K	324;196;213	ENSP00000216951:Q324K;ENSP00000439744:Q196K;ENSP00000407517:Q213K	ENSP00000216951:Q324K	Q	-	1	0	GSS	32983462	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.813000	0.48002	1.309000	0.44985	0.557000	0.71058	CAG		0.632	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			51	72	1	0	1.36e-18	2.74e-18	51	72				
LBP	3929	broad.mit.edu	37	20	36993246	36993246	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:36993246G>A	ENST00000217407.2	+	8	922	c.761G>A	c.(760-762)cGt>cAt	p.R254H		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	254					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				ATCTTTCATCGTAACCACCGT	0.488																																						uc002xic.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(760-762)CGT>CAT		lipopolysaccharide-binding protein precursor							165.0	154.0	158.0					20																	36993246		2203	4300	6503	SO:0001583	missense	3929				acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	g.chr20:36993246G>A		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.761G>A	20.37:g.36993246G>A	ENSP00000217407:p.Arg254His						p.R254H	NM_004139	NP_004130	P18428	LBP_HUMAN			8	796	+		Myeloproliferative disorder(115;0.00878)	254					B2R938|O43438|Q92672|Q9H403|Q9UD66	Missense_Mutation	SNP	ENST00000217407.2	37	c.761G>A	CCDS13304.1	.	.	.	.	.	.	.	.	.	.	G	5.377	0.254774	0.10185	.	.	ENSG00000129988	ENST00000217407;ENST00000538599	T	0.09350	2.99	5.55	-11.1	0.00147	Lipid-binding serum glycoprotein, N-terminal (1);Lipid-binding serum glycoprotein, C-terminal (1);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.815870	0.02386	N	0.079246	T	0.07908	0.0198	L	0.41961	1.31	0.09310	N	1	B	0.21688	0.059	B	0.24155	0.051	T	0.12319	-1.0552	10	0.38643	T	0.18	1.7084	3.6728	0.08280	0.2601:0.1119:0.5334:0.0946	.	254	P18428	LBP_HUMAN	H	254	ENSP00000217407:R254H	ENSP00000217407:R254H	R	+	2	0	LBP	36426660	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.047000	0.00630	-4.210000	0.00064	-1.193000	0.01689	CGT		0.488	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139		38	61	0	0	0	0	38	61				
PTPRT	11122	broad.mit.edu	37	20	41306563	41306563	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:41306563C>A	ENST00000373187.1	-	7	1095	c.1096G>T	c.(1096-1098)Ggt>Tgt	p.G366C	PTPRT_ENST00000373201.1_Missense_Mutation_p.G366C|PTPRT_ENST00000356100.2_Missense_Mutation_p.G366C|PTPRT_ENST00000373190.1_Missense_Mutation_p.G366C|PTPRT_ENST00000373184.1_Missense_Mutation_p.G366C|PTPRT_ENST00000373198.4_Missense_Mutation_p.G366C|PTPRT_ENST00000373193.3_Missense_Mutation_p.G366C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	366	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCCCCCTCACCTGGTCGTGTG	0.562																																						uc002xkg.2		NA																	0		p.G366V(1)		skin(8)|ovary(7)|lung(5)	20						c.(1096-1098)GGT>TGT		protein tyrosine phosphatase, receptor type, T							98.0	99.0	98.0					20																	41306563		1942	4142	6084	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306563C>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1096G>T	20.37:g.41306563C>A	ENSP00000362283:p.Gly366Cys					PTPRT_uc010ggj.2_Missense_Mutation_p.G366C	p.G366C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			7	1280	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	366			Extracellular (Potential).|Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1096G>T	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590398	0.86851	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95290	0.8472	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.971;0.983	D	0.95620	0.8680	10	0.87932	D	0	.	19.1814	0.93625	0.0:1.0:0.0:0.0	.	366;366	O14522-1;O14522	.;PTPRT_HUMAN	C	366	ENSP00000362286:G366C;ENSP00000362283:G366C;ENSP00000362289:G366C;ENSP00000348408:G366C;ENSP00000362294:G366C;ENSP00000362280:G366C;ENSP00000362297:G366C	ENSP00000348408:G366C	G	-	1	0	PTPRT	40739977	1.000000	0.71417	0.984000	0.44739	0.791000	0.44710	7.776000	0.85560	2.705000	0.92388	0.655000	0.94253	GGT		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			32	38	1	0	2.85e-18	5.71e-18	32	38				
MYBL2	4605	broad.mit.edu	37	20	42328423	42328423	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:42328423C>T	ENST00000217026.4	+	7	817	c.690C>T	c.(688-690)tcC>tcT	p.S230S	MYBL2_ENST00000396863.4_Silent_p.S206S	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	230					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACTGGCCCTCCGTCCCTCCTA	0.488																																						uc002xlb.1		NA																	0				lung(3)|kidney(2)	5						c.(688-690)TCC>TCT		MYB-related protein B							69.0	64.0	65.0					20																	42328423		2203	4300	6503	SO:0001819	synonymous_variant	4605					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:42328423C>T		CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.690C>T	20.37:g.42328423C>T						MYBL2_uc010zwj.1_Silent_p.S206S|MYBL2_uc002xla.1_Silent_p.S230S	p.S230S	NM_002466	NP_002457	P10244	MYBB_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		7	905	+		Myeloproliferative disorder(115;0.00452)	230					B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	ENST00000217026.4	37	c.690C>T	CCDS13322.1																																																																																				0.488	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080408.1	NM_002466		16	28	0	0	0	0	16	28				
C20orf85	128602	broad.mit.edu	37	20	56735866	56735866	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:56735866G>T	ENST00000371168.3	+	4	463	c.402G>T	c.(400-402)caG>caT	p.Q134H		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	134										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGCCCAAGCAGGGCGTGCACT	0.597																																						uc002xyv.2		NA																	0				ovary(1)	1						c.(400-402)CAG>CAT		hypothetical protein LOC128602							56.0	45.0	49.0					20																	56735866		2203	4300	6503	SO:0001583	missense	128602							g.chr20:56735866G>T	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.402G>T	20.37:g.56735866G>T	ENSP00000360210:p.Gln134His						p.Q134H	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		4	440	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		134						Missense_Mutation	SNP	ENST00000371168.3	37	c.402G>T	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644140	0.67244	.	.	ENSG00000124237	ENST00000371168	T	0.25749	1.78	5.43	-5.23	0.02798	.	0.154286	0.43747	D	0.000539	T	0.37812	0.1017	L	0.60455	1.87	0.21325	N	0.999725	D	0.64830	0.994	D	0.66847	0.947	T	0.35674	-0.9779	10	0.72032	D	0.01	-1.084	12.7439	0.57268	0.7085:0.0:0.2915:0.0	.	134	Q9H1P6	CT085_HUMAN	H	134	ENSP00000360210:Q134H	ENSP00000360210:Q134H	Q	+	3	2	C20orf85	56169272	0.678000	0.27586	0.830000	0.32933	0.915000	0.54546	-0.534000	0.06150	-0.730000	0.04869	0.561000	0.74099	CAG		0.597	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		11	14	1	0	3.07e-06	4.97e-06	11	14				
NPEPL1	79716	broad.mit.edu	37	20	57268861	57268861	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:57268861C>T	ENST00000356091.6	+	2	507	c.219C>T	c.(217-219)taC>taT	p.Y73Y	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525817.1_Silent_p.Y25Y|NPEPL1_ENST00000525967.1_Silent_p.Y45Y	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	73						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			ACCTGAACTACGCCACCGTGG	0.672																																						uc010zzs.1		NA																	0					0						c.(217-219)TAC>TAT		aminopeptidase-like 1							47.0	56.0	53.0					20																	57268861		2090	4217	6307	SO:0001819	synonymous_variant	79716				proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	g.chr20:57268861C>T	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.219C>T	20.37:g.57268861C>T						NPEPL1_uc010zzr.1_Silent_p.Y25Y|NPEPL1_uc002xzn.2_RNA|NPEPL1_uc010gjo.1_Silent_p.Y45Y|NPEPL1_uc002xzp.2_Translation_Start_Site	p.Y73Y	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)		2	314	+	all_lung(29;0.0175)		73					A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Silent	SNP	ENST00000356091.6	37	c.219C>T	CCDS46621.1																																																																																				0.672	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663		29	34	0	0	0	0	29	34				
PHACTR3	116154	broad.mit.edu	37	20	58330273	58330273	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:58330273C>T	ENST00000371015.1	+	4	862	c.395C>T	c.(394-396)cCc>cTc	p.P132L	PHACTR3_ENST00000541461.1_Missense_Mutation_p.P91L|PHACTR3_ENST00000361300.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000395639.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000359926.3_Missense_Mutation_p.P129L|PHACTR3_ENST00000355648.4_Missense_Mutation_p.P91L|PHACTR3_ENST00000395636.2_Missense_Mutation_p.P91L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	132						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			GATGGAGGACCCCGATCTGTA	0.587																																						uc002yau.2		NA																	0				ovary(2)|pancreas(1)	3						c.(394-396)CCC>CTC		phosphatase and actin regulator 3 isoform 1							63.0	59.0	60.0					20																	58330273		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58330273C>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.395C>T	20.37:g.58330273C>T	ENSP00000360054:p.Pro132Leu					PHACTR3_uc002yat.2_Missense_Mutation_p.P129L|PHACTR3_uc010zzw.1_Missense_Mutation_p.P91L|PHACTR3_uc002yav.2_Missense_Mutation_p.P91L|PHACTR3_uc002yaw.2_Missense_Mutation_p.P91L|PHACTR3_uc002yax.2_Missense_Mutation_p.P91L	p.P132L	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		4	862	+	all_lung(29;0.00344)		132					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.395C>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	0.576	-0.838991	0.02692	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.29142	1.99;2.03;1.58;2.01;2.01;2.01;1.58	3.8	2.82	0.32997	.	0.687552	0.14295	N	0.328685	T	0.15565	0.0375	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24823	0.069;0.02;0.112	B;B;B	0.25140	0.055;0.016;0.058	T	0.28586	-1.0039	10	0.08599	T	0.76	-5.2295	9.1039	0.36685	0.2198:0.7802:0.0:0.0	.	91;132;129	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	L	129;132;91;91;91;91;91	ENSP00000353002:P129L;ENSP00000360054:P132L;ENSP00000379001:P91L;ENSP00000442483:P91L;ENSP00000347866:P91L;ENSP00000378998:P91L;ENSP00000354555:P91L	ENSP00000347866:P91L	P	+	2	0	PHACTR3	57763668	0.003000	0.15002	0.009000	0.14445	0.012000	0.07955	0.702000	0.25631	0.863000	0.35553	0.591000	0.81541	CCC		0.587	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		9	17	0	0	0	0	9	17				
DIDO1	11083	broad.mit.edu	37	20	61525097	61525097	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:61525097C>A	ENST00000266070.4	-	12	3347	c.3022G>T	c.(3022-3024)Gtg>Ttg	p.V1008L	DIDO1_ENST00000395335.2_Missense_Mutation_p.V1008L|DIDO1_ENST00000395340.1_Missense_Mutation_p.V1008L|DIDO1_ENST00000395343.1_Missense_Mutation_p.V1008L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1008					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GACTTGGGCACCATCACAGAA	0.557																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(3022-3024)GTG>TTG		death inducer-obliterator 1 isoform c							127.0	104.0	112.0					20																	61525097		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525097C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3022G>T	20.37:g.61525097C>A	ENSP00000266070:p.Val1008Leu					DIDO1_uc002yds.1_Missense_Mutation_p.V1008L|DIDO1_uc002ydt.1_Missense_Mutation_p.V1008L|DIDO1_uc002ydu.1_Missense_Mutation_p.V1008L	p.V1008L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			12	3286	-	Breast(26;5.68e-08)		1008					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.3022G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	5.622	0.299554	0.10622	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12774	3.01;3.01;2.65;2.65	5.95	0.636	0.17729	.	0.000000	0.36034	U	0.002833	T	0.08313	0.0207	L	0.31926	0.97	0.38197	D	0.94006	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.001	T	0.31392	-0.9945	10	0.22706	T	0.39	-18.9917	6.1185	0.20139	0.0:0.5055:0.2196:0.2749	.	1008;1008	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	L	1008	ENSP00000266070:V1008L;ENSP00000378752:V1008L;ENSP00000378749:V1008L;ENSP00000378744:V1008L	ENSP00000266070:V1008L	V	-	1	0	DIDO1	60995542	0.002000	0.14202	0.069000	0.20011	0.292000	0.27327	0.014000	0.13333	-0.080000	0.12685	-0.150000	0.13652	GTG		0.557	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		39	53	1	0	2.05e-20	4.17e-20	39	53				
MYT1	4661	broad.mit.edu	37	20	62830234	62830234	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr20:62830234A>T	ENST00000328439.1	+	3	384	c.20A>T	c.(19-21)gAc>gTc	p.D7V	MYT1_ENST00000360149.4_Missense_Mutation_p.D7V|MYT1_ENST00000536311.1_Missense_Mutation_p.D7V	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Pro-rich.				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)					GAAAATGAAGACAAGCGAGCT	0.557																																					GBM(59;481 1041 20555 21139 33705)	uc002yii.2		NA																	0				ovary(2)	2						c.(19-21)GAC>GTC		myelin transcription factor 1							102.0	100.0	101.0					20																	62830234		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.chr20:62830234A>T	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.20A>T	20.37:g.62830234A>T	ENSP00000327465:p.Asp7Val					MYT1_uc002yih.2_Missense_Mutation_p.D7V	p.D7V	NM_004535	NP_004526	Q01538	MYT1_HUMAN			3	384	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		7					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.20A>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.371182	0.42003	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.49432	0.78;0.78;0.79	5.33	5.33	0.75918	.	0.446568	0.22797	N	0.055530	T	0.55513	0.1925	L	0.51422	1.61	0.38317	D	0.943408	B;D	0.60575	0.361;0.988	B;P	0.52793	0.05;0.709	T	0.63821	-0.6550	10	0.87932	D	0	-10.9538	15.2963	0.73910	1.0:0.0:0.0:0.0	.	7;7	Q01538;Q6P6D5	MYT1_HUMAN;.	V	7	ENSP00000353269:D7V;ENSP00000327465:D7V;ENSP00000442412:D7V	ENSP00000327465:D7V	D	+	2	0	MYT1	62300678	1.000000	0.71417	0.389000	0.26208	0.942000	0.58702	5.231000	0.65327	2.028000	0.59812	0.533000	0.62120	GAC		0.557	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		11	29	0	0	0	0	11	29				
HSPA13	6782	broad.mit.edu	37	21	15746151	15746151	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:15746151C>A	ENST00000285667.3	-	5	1270	c.1203G>T	c.(1201-1203)gaG>gaT	p.E401D	HSPA13_ENST00000544452.1_Missense_Mutation_p.E193D	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	401						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTAAAACCACCTCATCAATCT	0.438																																						uc002yjt.2		NA																	0				kidney(1)	1						c.(1201-1203)GAG>GAT		heat shock protein 70kDa family member 13							135.0	142.0	140.0					21																	15746151		2203	4300	6503	SO:0001583	missense	6782					endoplasmic reticulum|microsome	ATP binding	g.chr21:15746151C>A		CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1203G>T	21.37:g.15746151C>A	ENSP00000285667:p.Glu401Asp					HSPA13_uc011abx.1_Missense_Mutation_p.E193D	p.E401D	NM_006948	NP_008879	P48723	HSP13_HUMAN			5	1272	-			401					B2R616|Q8NE40	Missense_Mutation	SNP	ENST00000285667.3	37	c.1203G>T	CCDS13567.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898112	0.52227	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.01119	5.31;5.31	5.45	-0.0667	0.13763	.	0.093477	0.64402	D	0.000001	T	0.02119	0.0066	L	0.48986	1.54	0.52099	D	0.999947	D	0.61697	0.99	P	0.59012	0.85	T	0.53725	-0.8398	10	0.02654	T	1	-20.9873	9.2946	0.37808	0.0:0.425:0.0:0.575	.	401	P48723	HSP13_HUMAN	D	401;193	ENSP00000285667:E401D;ENSP00000441986:E193D	ENSP00000285667:E401D	E	-	3	2	HSPA13	14668022	0.996000	0.38824	0.998000	0.56505	0.985000	0.73830	0.420000	0.21263	0.104000	0.17725	-0.793000	0.03317	GAG		0.438	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			55	85	1	0	2.31e-15	4.5e-15	55	85				
SAMSN1	64092	broad.mit.edu	37	21	15872886	15872886	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:15872886C>A	ENST00000400566.1	-	6	813	c.732G>T	c.(730-732)aaG>aaT	p.K244N	SAMSN1_ENST00000400564.1_Missense_Mutation_p.K76N|SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000285670.2_Missense_Mutation_p.K312N	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	244	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CCTGCAGAGTCTTGGATTTTT	0.433																																						uc002yju.1		NA																	0				ovary(3)|pancreas(1)	4						c.(730-732)AAG>AAT		SAM domain, SH3 domain and nuclear localization							121.0	113.0	115.0					21																	15872886		1842	4080	5922	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15872886C>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.732G>T	21.37:g.15872886C>A	ENSP00000383411:p.Lys244Asn					SAMSN1_uc010gky.1_Missense_Mutation_p.K76N|SAMSN1_uc002yjv.1_Missense_Mutation_p.K312N	p.K244N	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	6	814	-			244			SAM.		B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.732G>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319607	0.10845	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	D;D;D	0.85013	-1.93;-1.93;-1.93	5.63	2.47	0.30058	Src homology-3 domain (1);Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.408589	0.29806	N	0.011159	T	0.73434	0.3586	L	0.33339	1.005	0.33214	D	0.553825	B;B;B	0.24882	0.113;0.01;0.004	B;B;B	0.25291	0.059;0.006;0.014	T	0.69510	-0.5126	10	0.39692	T	0.17	-1.6096	4.1867	0.10402	0.1639:0.5009:0.0:0.3352	.	76;312;244	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	N	312;244;76	ENSP00000285670:K312N;ENSP00000383411:K244N;ENSP00000383409:K76N	ENSP00000285670:K312N	K	-	3	2	SAMSN1	14794757	0.996000	0.38824	0.496000	0.27539	0.041000	0.13682	0.620000	0.24403	0.750000	0.32877	-0.897000	0.02905	AAG		0.433	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			10	57	1	0	2.81e-09	4.9e-09	10	57				
ADAMTS5	11096	broad.mit.edu	37	21	28338577	28338577	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:28338577C>T	ENST00000284987.5	-	1	255	c.134G>A	c.(133-135)cGg>cAg	p.R45Q		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	45					defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCCCTGCCGCCGGCGGGGCTG	0.766																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	uc002ymg.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(133-135)CGG>CAG		ADAM metallopeptidase with thrombospondin type 1							5.0	6.0	6.0					21																	28338577		1539	3184	4723	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28338577C>T	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.134G>A	21.37:g.28338577C>T	ENSP00000284987:p.Arg45Gln						p.R45Q	NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN			1	863	-			45					Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.134G>A	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	4.538	0.099793	0.08681	.	.	ENSG00000154736	ENST00000284987	T	0.07216	3.21	4.17	-1.33	0.09172	.	1.567630	0.04061	N	0.306331	T	0.02807	0.0084	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42498	-0.9448	10	0.13470	T	0.59	.	8.6604	0.34088	0.0:0.4614:0.0:0.5386	.	45	Q9UNA0	ATS5_HUMAN	Q	45	ENSP00000284987:R45Q	ENSP00000284987:R45Q	R	-	2	0	ADAMTS5	27260448	0.000000	0.05858	0.124000	0.21820	0.670000	0.39368	-1.182000	0.03082	-0.168000	0.10853	-0.244000	0.11960	CGG		0.766	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			7	13	0	0	0	0	7	13				
KRTAP13-3	337960	broad.mit.edu	37	21	31797760	31797760	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:31797760C>T	ENST00000390690.2	-	1	526	c.471G>A	c.(469-471)tgG>tgA	p.W157*		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	157						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						ATGAATGGAACCACCTTCTAG	0.388																																						uc002yob.1		NA																	0				ovary(1)|lung(1)	2						c.(469-471)TGG>TGA		keratin associated protein 13-3							61.0	57.0	58.0					21																	31797760		1902	4150	6052	SO:0001587	stop_gained	337960					intermediate filament		g.chr21:31797760C>T	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.471G>A	21.37:g.31797760C>T	ENSP00000375109:p.Trp157*						p.W157*	NM_181622	NP_853653	Q3SY46	KR133_HUMAN			1	471	-			157					Q3LI78	Nonsense_Mutation	SNP	ENST00000390690.2	37	c.471G>A	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	c	5.350	0.249912	0.10130	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	.	.	.	0.439	-0.879	0.10613	.	0.708972	0.11528	U	0.555000	.	.	.	.	.	.	0.22719	N	0.998814	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	.	.	.	.	.	.	.	X	157;147	.	ENSP00000375109:W157X	W	-	3	0	KRTAP13-3	30719631	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.323000	0.07997	-0.518000	0.06452	-0.530000	0.04314	TGG		0.388	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			19	28	0	0	0	0	19	28				
SCAF4	57466	broad.mit.edu	37	21	33064243	33064243	+	Splice_Site	SNP	T	T	C	rs199548875		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:33064243T>C	ENST00000286835.7	-	14	1997	c.1615A>G	c.(1615-1617)Atg>Gtg	p.M539V	SCAF4_ENST00000434667.3_Splice_Site_p.M524V|SCAF4_ENST00000399804.1_Splice_Site_p.M539V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	539	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GGAGGAATCATCTGCTCCAAA	0.408																																						uc002ypd.2		NA																	0					0						c.(1615-1617)ATG>GTG		splicing factor, arginine/serine-rich 15 isoform							67.0	69.0	69.0					21																	33064243		2203	4300	6503	SO:0001630	splice_region_variant	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33064243T>C	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1615-1A>G	21.37:g.33064243T>C						SFRS15_uc002ype.2_Missense_Mutation_p.M539V|SFRS15_uc010glu.2_Missense_Mutation_p.M524V|SFRS15_uc002ypf.1_Missense_Mutation_p.M213V	p.M539V	NM_020706	NP_065757	O95104	SFR15_HUMAN			14	2041	-			539			RRM.		C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.1615A>G	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	T	17.09	3.299444	0.60195	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.12774	2.65;2.65;2.65	5.33	5.33	0.75918	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	N	0.16478	0.41	0.80722	D	1	D;D;D;D	0.59357	0.985;0.963;0.982;0.985	D;D;D;D	0.72338	0.977;0.966;0.961;0.977	T	0.13602	-1.0503	10	0.18710	T	0.47	-15.7242	15.5922	0.76543	0.0:0.0:0.0:1.0	.	524;539;539;539	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	V	524;539;539	ENSP00000402377:M524V;ENSP00000286835:M539V;ENSP00000382703:M539V	ENSP00000286835:M539V	M	-	1	0	SCAF4	31986114	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.997000	0.88414	2.141000	0.66446	0.455000	0.32223	ATG		0.408	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889	Missense_Mutation	17	52	0	0	0	0	17	52				
AIRE	326	broad.mit.edu	37	21	45708269	45708269	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:45708269A>T	ENST00000291582.5	+	5	707	c.580A>T	c.(580-582)Atg>Ttg	p.M194L	AIRE_ENST00000329347.4_5'Flank|AIRE_ENST00000355347.4_5'Flank	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	194	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				humoral immune response (GO:0006959)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|transcription regulatory region DNA binding (GO:0044212)|translation regulator activity (GO:0045182)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGCTGTGGCCATGTCCTCCGG	0.622									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy																													uc002zei.2		NA																	0				skin(1)	1						c.(580-582)ATG>TTG		autoimmune regulator isoform 1							80.0	77.0	78.0					21																	45708269		2202	4300	6502	SO:0001583	missense	326	Autoimmune_PolyEndocrinopathy_Candidiasis_Ectodermal_Dystrophy	Familial Cancer Database	APECED	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	g.chr21:45708269A>T	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224		"""Zinc fingers, PHD-type"""	360	protein-coding gene	gene with protein product	"""autoimmune polyendocrinopathy candidiasis ectodermal dystrophy"""	607358	"""autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)"""	APECED		9398840	Standard	NM_000383		Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.580A>T	21.37:g.45708269A>T	ENSP00000291582:p.Met194Leu					AIRE_uc010gpq.2_5'Flank|AIRE_uc002zej.2_5'Flank|AIRE_uc010gpr.2_5'Flank	p.M194L	NM_000383	NP_000374	O43918	AIRE_HUMAN		Colorectal(79;0.0806)	5	707	+			194			SAND.		B2RP50|O43922|O43932|O75745	Missense_Mutation	SNP	ENST00000291582.5	37	c.580A>T	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	G	3.268	-0.149638	0.06585	.	.	ENSG00000160224	ENST00000291582	T	0.70399	-0.48	3.61	-0.993	0.10228	SAND domain-like (2);SAND domain (2);	0.376195	0.18971	N	0.126138	T	0.43411	0.1246	N	0.08118	0	0.30275	N	0.791843	B	0.18610	0.029	B	0.16289	0.015	T	0.30880	-0.9963	10	0.13853	T	0.58	-26.3545	9.8647	0.41136	0.4973:0.0:0.5027:0.0	.	194	O43918	AIRE_HUMAN	L	194	ENSP00000291582:M194L	ENSP00000291582:M194L	M	+	1	0	AIRE	44532697	0.000000	0.05858	0.097000	0.21041	0.045000	0.14185	-0.408000	0.07169	-1.097000	0.03042	-2.460000	0.00205	ATG		0.622	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195842.2			37	71	0	0	0	0	37	71				
COL6A1	1291	broad.mit.edu	37	21	47421935	47421935	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:47421935C>T	ENST00000361866.3	+	31	2131	c.2017C>T	c.(2017-2019)Cac>Tac	p.H673Y	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	673	C-terminal globular domain.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GATGCAGGAGCACGTGAGCCT	0.697																																						uc002zhu.1		NA																	0				ovary(1)	1						c.(2017-2019)CAC>TAC		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						39.0	39.0	39.0					21																	47421935		2201	4299	6500	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47421935C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2017C>T	21.37:g.47421935C>T	ENSP00000355180:p.His673Tyr					COL6A1_uc010gqd.1_Missense_Mutation_p.H4Y|COL6A1_uc002zhv.1_Missense_Mutation_p.H4Y|COL6A1_uc002zhw.1_5'Flank	p.H673Y	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	31	2119	+	all_hematologic(128;0.24)		673			VWFA 2.|C-terminal globular domain.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2017C>T	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892069	0.72524	.	.	ENSG00000142156	ENST00000361866	D	0.83075	-1.68	4.64	4.64	0.57946	von Willebrand factor, type A (3);	0.521004	0.17779	U	0.162306	T	0.66257	0.2771	N	0.14661	0.345	0.29970	N	0.818668	P	0.43607	0.812	B	0.39299	0.296	T	0.63373	-0.6652	10	0.02654	T	1	-30.6513	13.2631	0.60117	0.0:0.8405:0.1595:0.0	.	673	P12109	CO6A1_HUMAN	Y	673	ENSP00000355180:H673Y	ENSP00000355180:H673Y	H	+	1	0	COL6A1	46246363	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.951000	0.40333	2.137000	0.66172	0.462000	0.41574	CAC		0.697	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		14	38	0	0	0	0	14	38				
PCNT	5116	broad.mit.edu	37	21	47851899	47851899	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr21:47851899G>T	ENST00000359568.5	+	38	8628	c.8521G>T	c.(8521-8523)Gcc>Tcc	p.A2841S	PCNT_ENST00000480896.1_Intron	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2841					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGGTAAGTGCCACACTGAA	0.567																																						uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(8521-8523)GCC>TCC		pericentrin							80.0	68.0	72.0					21																	47851899		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47851899G>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8521G>T	21.37:g.47851899G>T	ENSP00000352572:p.Ala2841Ser					PCNT_uc002zjj.2_Intron	p.A2841S	NM_006031	NP_006022	O95613	PCNT_HUMAN			38	8628	+	Breast(49;0.112)		2841			Potential.		O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.8521G>T	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	5.022	0.189730	0.09547	.	.	ENSG00000160299	ENST00000359568	T	0.01484	4.84	5.01	2.09	0.27110	.	.	.	.	.	T	0.01061	0.0035	N	0.24115	0.695	0.09310	N	1	B	0.31485	0.325	B	0.15870	0.014	T	0.47446	-0.9117	9	0.10636	T	0.68	.	4.448	0.11607	0.2245:0.0:0.5264:0.2492	.	2841	O95613	PCNT_HUMAN	S	2841	ENSP00000352572:A2841S	ENSP00000352572:A2841S	A	+	1	0	PCNT	46676327	0.279000	0.24239	0.287000	0.24848	0.740000	0.42216	0.800000	0.27042	0.213000	0.20722	0.655000	0.94253	GCC		0.567	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		17	39	1	0	1.78e-19	3.61e-19	17	39				
POTEH	23784	broad.mit.edu	37	22	16279270	16279270	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:16279270T>C	ENST00000343518.6	-	4	1004	c.953A>G	c.(952-954)cAt>cGt	p.H318R	RNU6-816P_ENST00000390914.1_RNA|POTEH-AS1_ENST00000422014.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	318										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTTTGCTCATGTACACCAAG	0.328																																						uc010gqp.2		NA																	0				skin(1)	1						c.(952-954)CAT>CGT		ANKRD26-like family C, member 3																																				SO:0001583	missense	23784							g.chr22:16279270T>C	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.953A>G	22.37:g.16279270T>C	ENSP00000340610:p.His318Arg					POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Missense_Mutation_p.H37R|POTEH_uc002zlj.1_Missense_Mutation_p.H153R	p.H318R	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			4	1005	-			318			ANK 5.		A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.953A>G	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.250	-1.006936	0.02112	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.50001	0.76	1.38	-2.75	0.05914	Ankyrin repeat-containing domain (3);	2.018720	0.03867	N	0.274988	T	0.20659	0.0497	N	0.04655	-0.195	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.14578	0.01;0.011	T	0.07271	-1.0781	10	0.12103	T	0.63	.	2.8798	0.05644	0.2056:0.3652:0.0:0.4292	.	318;281	Q6S545;A6NKF6	POTEH_HUMAN;.	R	281;318	ENSP00000340610:H318R	ENSP00000340610:H318R	H	-	2	0	POTEH	14659270	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-2.480000	0.00983	-1.583000	0.01638	0.147000	0.16070	CAT		0.328	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		28	418	0	0	0	0	28	418				
CCT8L2	150160	broad.mit.edu	37	22	17072618	17072618	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:17072618C>G	ENST00000359963.3	-	1	1082	c.823G>C	c.(823-825)Gat>Cat	p.D275H		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	275					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTAATTGATCGCTTCCTTTA	0.527																																						uc002zlp.1		NA																	0				ovary(1)	1						c.(823-825)GAT>CAT		T-complex protein 1							146.0	134.0	138.0					22																	17072618		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072618C>G	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.823G>C	22.37:g.17072618C>G	ENSP00000353048:p.Asp275His						p.D275H	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1083	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	275					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.823G>C	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	8.809	0.934660	0.18206	.	.	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.98	1.98	0.26296	.	0.181406	0.26133	U	0.026160	T	0.68568	0.3015	N	0.08118	0	0.09310	N	1	P	0.50272	0.933	P	0.57846	0.828	T	0.59369	-0.7467	10	0.66056	D	0.02	-5.2115	7.4423	0.27190	0.0:1.0:0.0:0.0	.	275	Q96SF2	TCPQM_HUMAN	H	275	ENSP00000353048:D275H	ENSP00000353048:D275H	D	-	1	0	CCT8L2	15452618	0.012000	0.17670	0.036000	0.18154	0.014000	0.08584	0.501000	0.22578	1.115000	0.41800	0.379000	0.24179	GAT		0.527	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			49	141	0	0	0	0	49	141				
CCT8L2	150160	broad.mit.edu	37	22	17073049	17073049	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:17073049T>A	ENST00000359963.3	-	1	651	c.392A>T	c.(391-393)cAg>cTg	p.Q131L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	131					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCCCGGAGCTGCGGGCGAGG	0.652																																						uc002zlp.1		NA																	0				ovary(1)	1						c.(391-393)CAG>CTG		T-complex protein 1							42.0	37.0	39.0					22																	17073049		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17073049T>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.392A>T	22.37:g.17073049T>A	ENSP00000353048:p.Gln131Leu						p.Q131L	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	652	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	131					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.392A>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	t	8.517	0.867829	0.17250	.	.	ENSG00000198445	ENST00000359963	T	0.78481	-1.18	1.94	0.868	0.19090	.	0.297628	0.19174	U	0.120861	T	0.65112	0.2660	L	0.43152	1.355	0.09310	N	1	B	0.17852	0.024	B	0.28385	0.089	T	0.51671	-0.8676	10	0.34782	T	0.22	-11.8048	3.2905	0.06947	0.0:0.2304:0.0:0.7696	.	131	Q96SF2	TCPQM_HUMAN	L	131	ENSP00000353048:Q131L	ENSP00000353048:Q131L	Q	-	2	0	CCT8L2	15453049	0.528000	0.26314	0.048000	0.18961	0.028000	0.11728	0.586000	0.23894	0.925000	0.37094	0.315000	0.21342	CAG		0.652	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			15	41	0	0	0	0	15	41				
TOP3B	8940	broad.mit.edu	37	22	22322027	22322027	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:22322027C>G	ENST00000398793.2	-	8	1234	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TOP3B_ENST00000357179.5_Missense_Mutation_p.R267P|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	267					chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TGCGATCTCCCGGTCAAACAC	0.483																																						uc002zvs.2		NA																	0				kidney(1)	1						c.(799-801)CGG>CCG		topoisomerase (DNA) III beta							163.0	139.0	147.0					22																	22322027		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22322027C>G	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.800G>C	22.37:g.22322027C>G	ENSP00000381773:p.Arg267Pro					TOP3B_uc010gtm.1_5'UTR|TOP3B_uc002zvr.2_5'UTR|TOP3B_uc010gtl.2_Missense_Mutation_p.R267P|TOP3B_uc002zvt.3_Missense_Mutation_p.R267P	p.R267P	NM_003935	NP_003926	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	8	1235	-	Colorectal(54;0.105)		267					A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.800G>C	CCDS13797.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.1|24.1	4.492301|4.492301	0.84962|0.84962	.|.	.|.	ENSG00000100038|ENSG00000100038	ENST00000457270|ENST00000357179;ENST00000398793	.|T;T	.|0.23147	.|1.92;1.92	4.71|4.71	4.71|4.71	0.59529|0.59529	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);	.|0.054141	.|0.64402	.|D	.|0.000001	T|T	0.45518|0.45518	0.1346|0.1346	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D	.|0.54772	.|0.968	.|P	.|0.57846	.|0.828	T|T	0.37174|0.37174	-0.9717|-0.9717	5|10	.|0.42905	.|T	.|0.14	.|.	17.8418|17.8418	0.88717|0.88717	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|267	.|O95985	.|TOP3B_HUMAN	R|P	62|267	.|ENSP00000349705:R267P;ENSP00000381773:R267P	.|ENSP00000349705:R267P	G|R	-|-	1|2	0|0	TOP3B|TOP3B	20652027|20652027	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.778000|0.778000	0.44026|0.44026	7.487000|7.487000	0.81328|0.81328	2.439000|2.439000	0.82584|0.82584	0.655000|0.655000	0.94253|0.94253	GGG|CGG		0.483	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		33	65	0	0	0	0	33	65				
CABIN1	23523	broad.mit.edu	37	22	24480531	24480531	+	Splice_Site	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:24480531G>T	ENST00000398319.2	+	21	3295		c.e21-1		CABIN1_ENST00000405822.2_Splice_Site|CABIN1_ENST00000263119.5_Splice_Site	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1						cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTTTTTCAAGGTGGATCTTA	0.408																																						uc002zzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.e21-1		calcineurin binding protein 1							167.0	160.0	162.0					22																	24480531		2203	4300	6503	SO:0001630	splice_region_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24480531G>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2911-1G>T	22.37:g.24480531G>T						CABIN1_uc002zzj.1_Splice_Site_p.V921_splice|CABIN1_uc002zzl.1_Splice_Site_p.V971_splice	p.V971_splice	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			21	3038	+								G5E9F3|Q6PHY0|Q9Y460	Splice_Site	SNP	ENST00000398319.2	37	c.2911_splice	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.837773	0.91117	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2797	0.94048	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CABIN1	22810531	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.697000	0.98697	2.880000	0.98712	0.650000	0.86243	.		0.408	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295	Intron	31	96	1	0	2.08e-15	4.05e-15	31	96				
CHEK2	11200	broad.mit.edu	37	22	29083962	29083962	+	Missense_Mutation	SNP	G	G	C	rs200432447		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:29083962G>C	ENST00000405598.1	-	16	1746	c.1555C>G	c.(1555-1557)Cga>Gga	p.R519G	CHEK2_ENST00000328354.6_Missense_Mutation_p.R519G|CHEK2_ENST00000382565.1_Missense_Mutation_p.R139G|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.R428G|CHEK2_ENST00000403642.1_Missense_Mutation_p.R428G|CHEK2_ENST00000382580.2_Missense_Mutation_p.R562G|CHEK2_ENST00000348295.3_Missense_Mutation_p.R490G|CHEK2_ENST00000404276.1_Missense_Mutation_p.R519G|CHEK2_ENST00000544772.1_Missense_Mutation_p.R298G|CHEK2_ENST00000402731.1_Missense_Mutation_p.R490G			O96017	CHK2_HUMAN	checkpoint kinase 2	519					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.R519G(1)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGCCGCTTTCGACTAGTAGAA	0.463			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														uc003adu.1		NA	yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast 			1	Substitution - Missense(1)		kidney(1)	central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						c.(1555-1557)CGA>GGA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	protein kinase CHK2 isoform a							29.0	33.0	31.0					22																	29083962		1350	2291	3641	SO:0001583	missense	11200	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer			cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29083962G>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1555C>G	22.37:g.29083962G>C	ENSP00000386087:p.Arg519Gly					CHEK2_uc003ads.1_Missense_Mutation_p.R298G|CHEK2_uc010gvh.1_Missense_Mutation_p.R428G|CHEK2_uc010gvi.1_Missense_Mutation_p.R368G|CHEK2_uc010gvj.1_RNA|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.R562G|CHEK2_uc003adv.1_Missense_Mutation_p.R490G|CHEK2_uc003adw.1_Missense_Mutation_p.R519G|CHEK2_uc003adx.1_Missense_Mutation_p.R298G|CHEK2_uc003ady.1_Missense_Mutation_p.R508G|CHEK2_uc003adz.1_Missense_Mutation_p.R323G	p.R519G	NM_007194	NP_009125	O96017	CHK2_HUMAN			15	1627	-			519					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.1555C>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585428	0.46110	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000382565;ENST00000382563;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T;T	0.70631	0.76;-0.23;-0.5;-0.22;-0.23;-0.23;-0.23;-0.19;-0.23;0.76	4.76	3.66	0.41972	.	0.218383	0.36374	N	0.002628	T	0.56001	0.1956	L	0.27053	0.805	0.80722	D	1	B;B;B;B;B;B	0.18013	0.025;0.001;0.001;0.001;0.005;0.021	B;B;B;B;B;B	0.19391	0.011;0.002;0.002;0.005;0.007;0.025	T	0.58267	-0.7666	10	0.62326	D	0.03	-15.2329	9.7291	0.40350	0.0:0.0:0.7938:0.2062	.	428;298;519;490;519;562	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	G	490;428;139;202;298;519;519;519;562;428;490	ENSP00000329012:R490G;ENSP00000372021:R428G;ENSP00000372006:R139G;ENSP00000442458:R298G;ENSP00000329178:R519G;ENSP00000385747:R519G;ENSP00000386087:R519G;ENSP00000372023:R562G;ENSP00000384919:R428G;ENSP00000384835:R490G	ENSP00000329178:R519G	R	-	1	2	CHEK2	27413962	0.824000	0.29247	0.986000	0.45419	0.937000	0.57800	1.299000	0.33424	2.351000	0.79841	0.557000	0.71058	CGA		0.463	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	31	0	0	0	0	3	31				
EWSR1	2130	broad.mit.edu	37	22	29684679	29684679	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:29684679G>C	ENST00000397938.2	+	8	1197	c.878G>C	c.(877-879)aGc>aCc	p.S293T	EWSR1_ENST00000332035.6_Missense_Mutation_p.S237T|EWSR1_ENST00000333395.6_Missense_Mutation_p.S293T|EWSR1_ENST00000331029.7_Missense_Mutation_p.S293T|EWSR1_ENST00000332050.6_Intron|EWSR1_ENST00000406548.1_Missense_Mutation_p.S293T|EWSR1_ENST00000414183.2_Missense_Mutation_p.S299T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGAACCGGAGCATGAGTGGC	0.592			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	uc003aet.2		NA		Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1		Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma	EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	0				bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						c.(877-879)AGC>ACC		Ewing sarcoma breakpoint region 1 isoform 2							55.0	50.0	52.0					22																	29684679		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29684679G>C		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.878G>C	22.37:g.29684679G>C	ENSP00000381031:p.Ser293Thr					EWSR1_uc003aes.3_Missense_Mutation_p.S293T|EWSR1_uc003aev.2_Missense_Mutation_p.S299T|EWSR1_uc003aew.2_Missense_Mutation_p.S237T|EWSR1_uc003aex.2_Missense_Mutation_p.S293T|EWSR1_uc003aey.2_Missense_Mutation_p.S88T|EWSR1_uc003aez.2_5'Flank	p.S293T	NM_005243	NP_005234	Q01844	EWS_HUMAN			8	1206	+			293					B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.878G>C	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857852	0.51376	.	.	ENSG00000182944	ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000332035	T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53	5.94	5.94	0.96194	.	0.244160	0.37304	U	0.002158	T	0.29850	0.0746	L	0.50333	1.59	0.80722	D	1	B;B;B;B;B;B	0.25105	0.118;0.118;0.118;0.118;0.118;0.007	B;B;B;B;B;B	0.21917	0.037;0.026;0.018;0.018;0.018;0.01	T	0.02581	-1.1138	10	0.37606	T	0.19	.	13.9705	0.64237	0.0775:0.0:0.9225:0.0	.	237;293;237;299;293;293	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;.;EWS_HUMAN;.	T	293;293;293;299;293;237	ENSP00000381031:S293T;ENSP00000385726:S293T;ENSP00000330516:S293T;ENSP00000400142:S299T;ENSP00000327456:S293T;ENSP00000331699:S237T	ENSP00000330516:S293T	S	+	2	0	EWSR1	28014679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.481000	0.60250	2.820000	0.97059	0.650000	0.86243	AGC		0.592	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		18	25	0	0	0	0	18	25				
SFI1	9814	broad.mit.edu	37	22	31946321	31946321	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:31946321A>T	ENST00000400288.2	+	6	636	c.531A>T	c.(529-531)agA>agT	p.R177S	SFI1_ENST00000414585.1_Intron|SFI1_ENST00000540643.1_Missense_Mutation_p.R153S|SFI1_ENST00000443326.1_Missense_Mutation_p.R95S|SFI1_ENST00000443011.1_Intron|SFI1_ENST00000432498.1_Missense_Mutation_p.R177S|SFI1_ENST00000400289.1_Missense_Mutation_p.R95S	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	177					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGTACATTAGAGCCGAGGTTC	0.448																																						uc003ale.2		NA																	0				central_nervous_system(1)	1						c.(529-531)AGA>AGT		spindle assembly associated Sfi1 homolog isoform							109.0	100.0	103.0					22																	31946321		1956	4160	6116	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31946321A>T	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.531A>T	22.37:g.31946321A>T	ENSP00000383145:p.Arg177Ser					SFI1_uc003ald.1_Missense_Mutation_p.R153S|SFI1_uc003alf.2_Missense_Mutation_p.R177S|SFI1_uc003alg.2_Missense_Mutation_p.R95S|SFI1_uc011alp.1_Missense_Mutation_p.R95S|SFI1_uc011alq.1_Missense_Mutation_p.R153S|SFI1_uc003alh.2_Intron	p.R177S	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			6	924	+			177			HAT 2.		A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.531A>T	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611932	0.66558	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000400289;ENST00000400288;ENST00000450787	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.87	5.5	3.38	0.38709	.	0.754197	0.12435	N	0.469192	T	0.15998	0.0385	N	0.08118	0	0.53688	D	0.999979	P;P;P;P;P;P	0.48294	0.835;0.51;0.908;0.818;0.873;0.907	B;B;P;B;B;B	0.45881	0.311;0.228;0.496;0.311;0.306;0.384	T	0.03221	-1.1059	10	0.52906	T	0.07	.	6.8319	0.23915	0.8144:0.0:0.1856:0.0	.	153;95;95;177;177;153	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	S	177;153;95;153;95;177;91	ENSP00000402679:R177S;ENSP00000443025:R153S;ENSP00000416469:R95S;ENSP00000383146:R95S;ENSP00000383145:R177S;ENSP00000389364:R91S	ENSP00000383145:R177S	R	+	3	2	SFI1	30276321	0.998000	0.40836	0.075000	0.20258	0.197000	0.23852	1.261000	0.32980	0.403000	0.25479	0.533000	0.62120	AGA		0.448	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		18	32	0	0	0	0	18	32				
C22orf42	150297	broad.mit.edu	37	22	32555017	32555017	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:32555017C>G	ENST00000382097.3	-	1	258	c.186G>C	c.(184-186)caG>caC	p.Q62H	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	62										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GGCTGAGGTACTGCATGAGTT	0.537																																						uc003amd.2		NA																	0				ovary(1)|skin(1)	2						c.(184-186)CAG>CAC		chromosome 22 open reading frame 42							196.0	182.0	187.0					22																	32555017		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32555017C>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.186G>C	22.37:g.32555017C>G	ENSP00000371529:p.Gln62His						p.Q62H	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			1	227	-			62					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.186G>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	C	0.428	-0.904891	0.02453	.	.	ENSG00000205856	ENST00000382097	T	0.32988	1.43	.	.	.	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	P	0.42518	0.782	B	0.42422	0.387	T	0.14448	-1.0472	7	0.35671	T	0.21	.	.	.	.	.	62	Q6IC83	CV042_HUMAN	H	62	ENSP00000371529:Q62H	ENSP00000371529:Q62H	Q	-	3	2	C22orf42	30885017	0.003000	0.15002	0.050000	0.19076	0.078000	0.17371	0.192000	0.17096	0.064000	0.16427	0.064000	0.15345	CAG		0.537	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		61	174	0	0	0	0	61	174				
SSTR3	6753	broad.mit.edu	37	22	37603377	37603377	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:37603377T>A	ENST00000328544.3	-	2	999	c.466A>T	c.(466-468)Aca>Tca	p.T156S	SSTR3_ENST00000402501.1_Missense_Mutation_p.T156S	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	156					cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hormone-mediated apoptotic signaling pathway (GO:0008628)|negative regulation of cell proliferation (GO:0008285)|response to starvation (GO:0042594)|somatostatin signaling pathway (GO:0038170)|spermatogenesis (GO:0007283)	ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14					Pasireotide(DB06663)	ACCGGAGCTGTGCGCCAGCGG	0.677																																						uc003ara.2		NA																	0				lung(1)	1						c.(466-468)ACA>TCA		somatostatin receptor 3							58.0	54.0	56.0					22																	37603377		2203	4299	6502	SO:0001583	missense	6753				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	g.chr22:37603377T>A		CCDS13944.1	22q13.1	2012-08-08			ENSG00000183473	ENSG00000278195		"""GPCR / Class A : Somatostatin receptors"""	11332	protein-coding gene	gene with protein product		182453				8449518	Standard	XM_006724311		Approved		uc003arb.3	P32745	OTTHUMG00000150537	ENST00000328544.3:c.466A>T	22.37:g.37603377T>A	ENSP00000330138:p.Thr156Ser					SSTR3_uc003arb.2_Missense_Mutation_p.T156S	p.T156S	NM_001051	NP_001042	P32745	SSR3_HUMAN			2	528	-			156			Cytoplasmic (Potential).		A8K550|Q53ZR7	Missense_Mutation	SNP	ENST00000328544.3	37	c.466A>T	CCDS13944.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444215	0.83993	.	.	ENSG00000183473	ENST00000328544;ENST00000402501	T;T	0.38401	1.14;1.14	5.63	5.63	0.86233	GPCR, rhodopsin-like superfamily (1);	0.129820	0.51477	D	0.000094	T	0.44008	0.1273	L	0.33339	1.005	0.38341	D	0.944063	P	0.45957	0.869	P	0.53988	0.739	T	0.47195	-0.9136	10	0.56958	D	0.05	.	15.8391	0.78831	0.0:0.0:0.0:1.0	.	156	P32745	SSR3_HUMAN	S	156	ENSP00000330138:T156S;ENSP00000384904:T156S	ENSP00000330138:T156S	T	-	1	0	SSTR3	35933323	1.000000	0.71417	0.996000	0.52242	0.860000	0.49131	4.309000	0.59135	2.147000	0.66899	0.455000	0.32223	ACA		0.677	SSTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318802.1			30	53	0	0	0	0	30	53				
APOBEC3B	9582	broad.mit.edu	37	22	39380220	39380220	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:39380220G>T	ENST00000333467.3	+	2	203	c.158G>T	c.(157-159)gGg>gTg	p.G53V	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.G53V|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G53V	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	53					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGGGACACAGGGGTCTTTCGA	0.493																																						uc003awo.1		NA																	0				ovary(1)	1						c.(157-159)GGG>GTG		apolipoprotein B mRNA editing enzyme, catalytic							54.0	58.0	57.0					22																	39380220		2198	4279	6477	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39380220G>T	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.158G>T	22.37:g.39380220G>T	ENSP00000327459:p.Gly53Val					APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.G53V|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	p.G53V	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN			2	212	+	Melanoma(58;0.04)		53					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.158G>T	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	14.09	2.431359	0.43122	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.70164	-0.46;-0.46;-0.46	2.44	2.44	0.29823	APOBEC-like, N-terminal (1);	.	.	.	.	T	0.75155	0.3811	L	0.52905	1.665	0.21147	N	0.999778	D;P	0.89917	1.0;0.814	D;P	0.85130	0.997;0.561	T	0.60606	-0.7230	9	0.72032	D	0.01	.	8.4993	0.33148	0.0:0.0:1.0:0.0	.	53;53	B0QYD2;Q9UH17	.;ABC3B_HUMAN	V	53	ENSP00000385068:G53V;ENSP00000385060:G53V;ENSP00000327459:G53V	ENSP00000327459:G53V	G	+	2	0	APOBEC3B	37710166	0.224000	0.23674	0.160000	0.22671	0.089000	0.18198	1.994000	0.40757	1.688000	0.51068	0.411000	0.27672	GGG		0.493	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		23	7	1	0	7.88e-14	1.49e-13	23	7				
CACNA1I	8911	broad.mit.edu	37	22	40042659	40042659	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:40042659T>C	ENST00000402142.3	+	8	1235	c.1235T>C	c.(1234-1236)aTg>aCg	p.M412T	CACNA1I_ENST00000404898.1_Missense_Mutation_p.M412T|CACNA1I_ENST00000336649.4_Missense_Mutation_p.M412T|CACNA1I_ENST00000401624.1_Missense_Mutation_p.M412T|CACNA1I_ENST00000400164.3_Missense_Mutation_p.M412T|CACNA1I_ENST00000407673.1_Missense_Mutation_p.M412T	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	412					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CACCGGCTGATGCTGGAGCAG	0.607																																						uc003ayc.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(1234-1236)ATG>ACG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						12.0	14.0	13.0					22																	40042659		2117	4236	6353	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40042659T>C	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.1235T>C	22.37:g.40042659T>C	ENSP00000385019:p.Met412Thr					CACNA1I_uc003ayd.2_Missense_Mutation_p.M412T|CACNA1I_uc003aye.2_Missense_Mutation_p.M327T|CACNA1I_uc003ayf.2_Missense_Mutation_p.M327T	p.M412T	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			8	1235	+	Melanoma(58;0.0749)		412			Cytoplasmic (Potential).		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.1235T>C	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	T	18.91	3.723389	0.68959	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97553	-4.39;-4.31;-4.38;-4.31;-4.43;-4.28	3.49	3.49	0.39957	.	0.296905	0.33110	U	0.005261	D	0.98108	0.9376	M	0.85041	2.73	0.53688	D	0.999977	D;P;D;D	0.54601	0.959;0.835;0.959;0.967	P;P;P;D	0.63597	0.581;0.466;0.581;0.916	D	0.98643	1.0676	10	0.72032	D	0.01	.	12.7047	0.57054	0.0:0.0:0.0:1.0	.	412;412;412;412	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	T	412	ENSP00000385019:M412T;ENSP00000384093:M412T;ENSP00000383887:M412T;ENSP00000385680:M412T;ENSP00000337829:M412T;ENSP00000383028:M412T	ENSP00000337829:M412T	M	+	2	0	CACNA1I	38372605	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.597000	0.82733	1.547000	0.49401	0.254000	0.18369	ATG		0.607	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		5	7	0	0	0	0	5	7				
FAM83F	113828	broad.mit.edu	37	22	40417675	40417675	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:40417675C>T	ENST00000333407.6	+	4	1255	c.1161C>T	c.(1159-1161)ccC>ccT	p.P387P	FAM83F_ENST00000473717.1_Silent_p.P219P	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	387										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TGCTGCCCCCCGTGGAGCCCA	0.662																																						uc003ayk.1		NA																	0				breast(1)	1						c.(1159-1161)CCC>CCT		hypothetical protein LOC113828							36.0	30.0	32.0					22																	40417675		2203	4300	6503	SO:0001819	synonymous_variant	113828							g.chr22:40417675C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.1161C>T	22.37:g.40417675C>T							p.P387P	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN			4	1255	+			387					Q96FD6	Silent	SNP	ENST00000333407.6	37	c.1161C>T	CCDS14000.2																																																																																				0.662	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		13	48	0	0	0	0	13	48				
ACO2	50	broad.mit.edu	37	22	41918884	41918884	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:41918884G>T	ENST00000216254.4	+	10	1211	c.1189G>T	c.(1189-1191)Gca>Tca	p.A397S	ACO2_ENST00000396512.3_Missense_Mutation_p.A422S	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	397					cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GGGGCGCTCAGCAGCTGTGGC	0.572																																						uc003bac.2		NA																	0				breast(2)|ovary(1)|lung(1)	4						c.(1189-1191)GCA>TCA		aconitase 2, mitochondrial precursor							93.0	81.0	85.0					22																	41918884		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41918884G>T	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.1189G>T	22.37:g.41918884G>T	ENSP00000216254:p.Ala397Ser					ACO2_uc003bad.2_Missense_Mutation_p.A422S	p.A397S	NM_001098	NP_001089	Q99798	ACON_HUMAN			10	1211	+			397					O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.1189G>T	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473553	0.96291	.	.	ENSG00000100412	ENST00000541439;ENST00000544234;ENST00000216254;ENST00000396512	D;D	0.87412	-2.25;-2.25	5.92	5.92	0.95590	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	D	0.95733	0.8612	H	0.95114	3.625	0.80722	D	1	D;P	0.58620	0.983;0.875	P;D	0.67103	0.901;0.949	D	0.95857	0.8880	10	0.59425	D	0.04	.	20.3343	0.98733	0.0:0.0:1.0:0.0	.	422;397	A2A274;Q99798	.;ACON_HUMAN	S	118;378;397;422	ENSP00000216254:A397S;ENSP00000379769:A422S	ENSP00000216254:A397S	A	+	1	0	ACO2	40248830	1.000000	0.71417	0.964000	0.40570	0.982000	0.71751	9.476000	0.97823	2.822000	0.97130	0.650000	0.86243	GCA		0.572	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		22	49	1	0	5.26e-13	9.82e-13	22	49				
PRR5	55615	broad.mit.edu	37	22	45132772	45132772	+	Missense_Mutation	SNP	C	C	A	rs375688714		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:45132772C>A	ENST00000336985.6	+	8	1089	c.812C>A	c.(811-813)gCg>gAg	p.A271E	PRR5_ENST00000477331.1_3'UTR|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000403581.1_Missense_Mutation_p.A294E|PRR5_ENST00000006251.7_Missense_Mutation_p.A262E|ARHGAP8_ENST00000389773.5_Intron	NM_181333.3	NP_851850.1	P85299	PRR5_HUMAN	proline rich 5 (renal)	271					cell cycle (GO:0007049)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)	TORC2 complex (GO:0031932)				central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		GCGGAGGGCGCGGCGGCCGGC	0.711																																						uc003bfb.1		NA																	0				skin(1)	1						c.(811-813)GCG>GAG		proline rich 5 (renal) isoform 1							18.0	23.0	21.0					22																	45132772		2182	4264	6446	SO:0001583	missense	55615				cell cycle			g.chr22:45132772C>A	AF177331	CCDS14058.1, CCDS14059.1, CCDS56232.1, CCDS74875.1	22q13.3	2011-02-10			ENSG00000186654	ENSG00000186654			31682	protein-coding gene	gene with protein product	"""protein observed with Rictor-1"""	609406				15718101, 17599906	Standard	NM_001017528		Approved	PP610, FLJ20185k, Protor-1		P85299	OTTHUMG00000150460	ENST00000336985.6:c.812C>A	22.37:g.45132772C>A	ENSP00000337464:p.Ala271Glu					PRR5_uc003bew.1_Missense_Mutation_p.A262E|PRR5_uc003bex.1_Missense_Mutation_p.A176E|PRR5_uc010gzt.1_Missense_Mutation_p.A294E|PRR5_uc010gzu.1_Missense_Mutation_p.A235E|PRR5_uc003bey.1_Missense_Mutation_p.A262E|PRR5_uc003bez.1_Missense_Mutation_p.A176E|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.A164E|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.A170E	p.A271E	NM_181333	NP_851850	P85299	PRR5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)	8	1084	+		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)	271					B1AHF6|B1AHG5|B3KP73|O75983|O95695|Q5BIW2|Q5EAJ8|Q5EAJ9|Q5XKJ6|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000336985.6	37	c.812C>A	CCDS14058.1	.	.	.	.	.	.	.	.	.	.	C	8.584	0.883026	0.17467	.	.	ENSG00000186654	ENST00000432186;ENST00000006251;ENST00000404016;ENST00000403581;ENST00000336985	T;T;T;T	0.30448	1.53;1.55;1.54;1.55	5.41	3.3	0.37823	.	.	.	.	.	T	0.16685	0.0401	N	0.22421	0.69	0.09310	N	0.999999	B;B;P;B;B	0.35844	0.2;0.208;0.524;0.094;0.094	B;B;B;B;B	0.26094	0.018;0.042;0.066;0.018;0.018	T	0.09207	-1.0685	9	0.36615	T	0.2	.	7.5908	0.28019	0.0:0.646:0.0:0.354	.	235;294;170;271;271	B1AHF5;B1AHF6;P85299-2;P85299;A8K699	.;.;.;PRR5_HUMAN;.	E	262;262;235;294;271	ENSP00000400925:A262E;ENSP00000006251:A262E;ENSP00000384848:A294E;ENSP00000337464:A271E	ENSP00000006251:A262E	A	+	2	0	PRR5	43511436	0.000000	0.05858	0.001000	0.08648	0.195000	0.23768	0.816000	0.27267	1.296000	0.44742	0.313000	0.20887	GCG		0.711	PRR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318200.2	NM_001017528		13	39	1	0	1.58e-08	2.73e-08	13	39				
GTSE1	51512	broad.mit.edu	37	22	46704670	46704670	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:46704670C>A	ENST00000454366.1	+	4	804	c.592C>A	c.(592-594)Cgc>Agc	p.R198S		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	179					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGCCCAGGCCCGCCTCACCCG	0.677																																					GBM(153;542 1915 12487 29016 50495)	uc011aqy.1		NA																	0				ovary(1)	1						c.(592-594)CGC>AGC		G-2 and S-phase expressed 1							41.0	52.0	48.0					22																	46704670		2200	4293	6493	SO:0001583	missense	51512				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		g.chr22:46704670C>A	AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.592C>A	22.37:g.46704670C>A	ENSP00000415430:p.Arg198Ser					GTSE1_uc011aqz.1_Missense_Mutation_p.R45S	p.R198S	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)	4	804	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	179					B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	ENST00000454366.1	37	c.592C>A	CCDS14074.2	.	.	.	.	.	.	.	.	.	.	A	4.321	0.058834	0.08339	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06687	3.27	4.97	-7.57	0.01318	.	1.075740	0.07462	N	0.900791	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42766	-0.9432	10	0.13108	T	0.6	-0.0192	2.2736	0.04096	0.4341:0.2092:0.2507:0.1059	.	179	Q9NYZ3	GTSE1_HUMAN	S	198;158	ENSP00000415430:R198S	ENSP00000354634:R158S	R	+	1	0	GTSE1	45083334	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.030000	0.03581	-2.161000	0.00785	-0.981000	0.02577	CGC		0.677	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318360.2	NM_016426		45	87	1	0	6.48e-29	1.36e-28	45	87				
CRELD2	79174	broad.mit.edu	37	22	50315316	50315316	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr22:50315316C>A	ENST00000328268.4	+	5	573	c.499C>A	c.(499-501)Cgg>Agg	p.R167R	CRELD2_ENST00000407217.3_Silent_p.R167R|CRELD2_ENST00000404488.3_Silent_p.R167R|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000403427.3_Silent_p.R167R	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	167	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.					endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGGGTCCTGCCGGTGCCACAT	0.647																																						uc003bja.2		NA																	0					0						c.(499-501)CGG>AGG		cysteine-rich with EGF-like domains 2 isoform b							66.0	70.0	69.0					22																	50315316		2203	4300	6503	SO:0001819	synonymous_variant	79174					endoplasmic reticulum|extracellular region	calcium ion binding	g.chr22:50315316C>A	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.499C>A	22.37:g.50315316C>A						CRELD2_uc003biz.3_Silent_p.R167R|CRELD2_uc010haj.2_Silent_p.R167R|CRELD2_uc010hal.2_Silent_p.R167R|CRELD2_uc010hak.2_Silent_p.R167R|CRELD2_uc010ham.2_Silent_p.R167R	p.R167R	NM_024324	NP_077300	Q6UXH1	CREL2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)	5	634	+		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)	167			EGF-like 1.		A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	c.499C>A	CCDS14082.1																																																																																				0.647	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324		29	102	1	0	1.75e-13	3.3e-13	29	102				
FGD5	152273	broad.mit.edu	37	3	14939485	14939485	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:14939485G>A	ENST00000285046.5	+	6	3059	c.2949G>A	c.(2947-2949)cgG>cgA	p.R983R	FGD5_ENST00000543601.1_Silent_p.R742R|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	983	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				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)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCCTGGCCCGGGAGCAGGGGT	0.592																																						uc003bzc.2		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2947-2949)CGG>CGA		FYVE, RhoGEF and PH domain containing 5							66.0	71.0	69.0					3																	14939485		2115	4239	6354	SO:0001819	synonymous_variant	152273				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.chr3:14939485G>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2949G>A	3.37:g.14939485G>A						FGD5_uc011avk.1_Silent_p.R983R|FGD5_uc003bzd.2_Silent_p.R61R	p.R983R	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			6	3059	+			983			DH.		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.2949G>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.406536	0.25378	.	.	ENSG00000154783	ENST00000457774	.	.	.	5.0	-0.213	0.13165	.	.	.	.	.	T	0.43678	0.1258	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24584	-1.0156	4	.	.	.	-18.02	3.7068	0.08404	0.2435:0.0:0.4744:0.2821	.	.	.	.	R	167	.	.	G	+	1	0	FGD5	14914489	0.845000	0.29573	0.993000	0.49108	0.992000	0.81027	-0.100000	0.10990	0.113000	0.18004	0.591000	0.81541	GGA		0.592	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536		24	38	0	0	0	0	24	38				
RFTN1	23180	broad.mit.edu	37	3	16475401	16475401	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:16475401G>T	ENST00000334133.4	-	3	561	c.289C>A	c.(289-291)Ctg>Atg	p.L97M	RFTN1_ENST00000432519.1_Missense_Mutation_p.L61M	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	97					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ATGTGCTCCAGGGGCGTCTTC	0.597																																						uc003cay.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(289-291)CTG>ATG		raft-linking protein							122.0	129.0	127.0					3																	16475401		2203	4300	6503	SO:0001583	missense	23180					plasma membrane		g.chr3:16475401G>T	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.289C>A	3.37:g.16475401G>T	ENSP00000334153:p.Leu97Met					RFTN1_uc010hes.2_Missense_Mutation_p.L61M	p.L97M	NM_015150	NP_055965	Q14699	RFTN1_HUMAN			3	571	-			97					Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	c.289C>A	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201016	0.58234	.	.	ENSG00000131378	ENST00000432519;ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.21	5.21	0.72293	.	0.068626	0.64402	D	0.000010	T	0.46964	0.1420	L	0.44542	1.39	0.36819	D	0.886295	D;P	0.71674	0.998;0.879	D;P	0.64877	0.93;0.668	T	0.46748	-0.9169	10	0.35671	T	0.21	-20.463	18.3868	0.90469	0.0:0.0:1.0:0.0	.	61;97	G3XAJ6;Q14699	.;RFTN1_HUMAN	M	61;97;97;97;97;97	ENSP00000403926:L61M;ENSP00000334153:L97M;ENSP00000403997:L97M;ENSP00000409427:L97M;ENSP00000388718:L97M;ENSP00000393216:L97M	ENSP00000334153:L97M	L	-	1	2	RFTN1	16450405	1.000000	0.71417	0.981000	0.43875	0.583000	0.36354	8.578000	0.90777	2.433000	0.82419	0.561000	0.74099	CTG		0.597	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150		50	103	1	0	2.56e-31	5.38e-31	50	103				
ZNF385D	79750	broad.mit.edu	37	3	21465512	21465512	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:21465512G>T	ENST00000281523.2	-	7	1415	c.897C>A	c.(895-897)ccC>ccA	p.P299P		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	299						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TAGGTTTCGGGGGCTTCCCAG	0.418																																						uc003cce.2		NA																	0				large_intestine(2)|skin(2)|ovary(1)	5						c.(895-897)CCC>CCA		zinc finger protein 385D							176.0	174.0	175.0					3																	21465512		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21465512G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.897C>A	3.37:g.21465512G>T							p.P299P	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			7	1305	-			299						Silent	SNP	ENST00000281523.2	37	c.897C>A	CCDS2636.1																																																																																				0.418	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		34	40	1	0	2.55e-27	5.31e-27	34	40				
ZNF385D	79750	broad.mit.edu	37	3	21606087	21606087	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:21606087G>T	ENST00000281523.2	-	3	773	c.255C>A	c.(253-255)tgC>tgA	p.C85*	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	85						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						ATCTCAACTGGCAAATGTTGC	0.343																																						uc003cce.2		NA																	0				large_intestine(2)|skin(2)|ovary(1)	5						c.(253-255)TGC>TGA		zinc finger protein 385D							143.0	140.0	141.0					3																	21606087		2203	4300	6503	SO:0001587	stop_gained	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21606087G>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.255C>A	3.37:g.21606087G>T	ENSP00000281523:p.Cys85*					ZNF385D_uc010hfb.1_RNA	p.C85*	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			3	663	-			85			Matrin-type 1.			Nonsense_Mutation	SNP	ENST00000281523.2	37	c.255C>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	G	37	5.999565	0.97189	.	.	ENSG00000151789	ENST00000281523	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0676	19.9058	0.97007	0.0:0.0:1.0:0.0	.	.	.	.	X	85	.	ENSP00000281523:C85X	C	-	3	2	ZNF385D	21581091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.964000	0.87933	2.716000	0.92895	0.561000	0.74099	TGC		0.343	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		15	28	1	0	3.27e-08	5.61e-08	15	28				
TGFBR2	7048	broad.mit.edu	37	3	30691784	30691784	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:30691784A>G	ENST00000295754.5	+	3	668	c.286A>G	c.(286-288)Aca>Gca	p.T96A	TGFBR2_ENST00000359013.4_Missense_Mutation_p.T121A	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	96					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CGAGAACATAACACTAGAGAC	0.428																																						uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(286-288)ACA>GCA		transforming growth factor, beta receptor II							106.0	103.0	104.0					3																	30691784		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30691784A>G		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.286A>G	3.37:g.30691784A>G	ENSP00000295754:p.Thr96Ala					TGFBR2_uc003cen.2_Missense_Mutation_p.T121A	p.T96A	NM_003242	NP_003233	P37173	TGFR2_HUMAN			3	668	+			96			Extracellular (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.286A>G	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	A	18.10	3.548310	0.65311	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.83250	-1.7;-1.7	5.82	5.82	0.92795	Transforming growth factor beta receptor 2 ectodomain (1);	0.044949	0.85682	D	0.000000	D	0.85885	0.5801	M	0.66939	2.045	0.80722	D	1	B;B	0.23540	0.087;0.087	B;B	0.41723	0.365;0.332	T	0.81111	-0.1081	10	0.18276	T	0.48	.	16.1864	0.81955	1.0:0.0:0.0:0.0	.	96;121	P37173;D2JYI1	TGFR2_HUMAN;.	A	96;121	ENSP00000295754:T96A;ENSP00000351905:T121A	ENSP00000295754:T96A	T	+	1	0	TGFBR2	30666788	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	5.800000	0.69108	2.225000	0.72522	0.533000	0.62120	ACA		0.428	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			27	34	0	0	0	0	27	34				
TRANK1	9881	broad.mit.edu	37	3	36899135	36899135	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:36899135G>T	ENST00000429976.2	-	12	2193	c.1946C>A	c.(1945-1947)aCt>aAt	p.T649N	TRANK1_ENST00000301807.6_Missense_Mutation_p.T99N|TRANK1_ENST00000428977.2_Missense_Mutation_p.T99N	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	649							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						TGTTCTGGCAGTGGCACCACA	0.597																																						uc003cgj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(295-297)ACT>AAT		lupus brain antigen 1							95.0	97.0	96.0					3																	36899135		2031	4181	6212	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36899135G>T	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.1946C>A	3.37:g.36899135G>T	ENSP00000416168:p.Thr649Asn						p.T99N	NM_014831	NP_055646	O15050	TRNK1_HUMAN			3	598	-			649					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.296C>A	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411152	0.25465	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.32753	1.44;1.9;1.44	5.21	2.28	0.28536	.	0.829257	0.10301	N	0.691145	T	0.17280	0.0415	N	0.24115	0.695	0.09310	N	1	B	0.23650	0.089	B	0.18871	0.023	T	0.28650	-1.0037	10	0.28530	T	0.3	.	3.3721	0.07224	0.0996:0.1681:0.5584:0.1739	.	649	O15050	TRNK1_HUMAN	N	99;649;99	ENSP00000416826:T99N;ENSP00000416168:T649N;ENSP00000301807:T99N	ENSP00000301807:T99N	T	-	2	0	TRANK1	36874139	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.481000	0.22260	0.239000	0.21243	0.650000	0.86243	ACT		0.597	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		35	34	1	0	1.27e-14	2.43e-14	35	34				
SCN10A	6336	broad.mit.edu	37	3	38763808	38763808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:38763808C>A	ENST00000449082.2	-	19	3447	c.3448G>T	c.(3448-3450)Gag>Tag	p.E1150*		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1150					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CAGCTGTGCTCCACGATACGG	0.547																																						uc003ciq.2		NA																	0				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10						c.(3448-3450)GAG>TAG		sodium channel, voltage-gated, type X, alpha	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						160.0	130.0	140.0					3																	38763808		2203	4300	6503	SO:0001587	stop_gained	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38763808C>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3448G>T	3.37:g.38763808C>A	ENSP00000390600:p.Glu1150*						p.E1150*	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	19	3448	-			1150			III.|Helical; Name=S1 of repeat III; (Potential).		A6NDQ1	Nonsense_Mutation	SNP	ENST00000449082.2	37	c.3448G>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	42	9.472179	0.99180	.	.	ENSG00000185313	ENST00000449082	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.8955	0.86099	0.0:1.0:0.0:0.0	.	.	.	.	X	1150	.	ENSP00000390600:E1150X	E	-	1	0	SCN10A	38738812	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.651000	0.83577	2.221000	0.72209	0.561000	0.74099	GAG		0.547	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		20	33	1	0	0.000132079	0.000201779	20	33				
SCN11A	11280	broad.mit.edu	37	3	38946691	38946691	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:38946691G>T	ENST00000302328.3	-	11	1793	c.1595C>A	c.(1594-1596)aCc>aAc	p.T532N	SCN11A_ENST00000444237.2_Missense_Mutation_p.T532N|AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Missense_Mutation_p.T532N|SCN11A_ENST00000450244.1_Missense_Mutation_p.T532N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	532					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACCCTTCATGGTGATGGTGAG	0.488																																						uc011ays.1		NA																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(1594-1596)ACC>AAC		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						269.0	241.0	251.0					3																	38946691		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38946691G>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1595C>A	3.37:g.38946691G>T	ENSP00000307599:p.Thr532Asn						p.T532N	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	11	1794	-			532					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1595C>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306561	0.81247	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96427	-4.01;-4.01;-3.98;-3.85	5.39	5.39	0.77823	.	0.421858	0.25101	N	0.033140	D	0.96147	0.8744	M	0.83223	2.63	0.41035	D	0.985186	D	0.53312	0.959	B	0.43623	0.425	D	0.96468	0.9346	10	0.56958	D	0.05	.	14.7549	0.69557	0.0:0.0:0.8549:0.1451	.	532	Q9UI33	SCNBA_HUMAN	N	532	ENSP00000307599:T532N;ENSP00000400945:T532N;ENSP00000416757:T532N;ENSP00000408028:T532N	ENSP00000307599:T532N	T	-	2	0	SCN11A	38921695	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.508000	0.53378	2.509000	0.84616	0.563000	0.77884	ACC		0.488	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		57	58	1	0	6.18e-18	1.23e-17	57	58				
CCR8	1237	broad.mit.edu	37	3	39374449	39374449	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:39374449C>T	ENST00000326306.4	+	2	765	c.627C>T	c.(625-627)atC>atT	p.I209I	CCR8_ENST00000545843.1_Silent_p.I126I|CCR8_ENST00000414803.1_3'UTR	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	209					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GCTTGTTGATCCCATTCACCA	0.398																																						uc010hhr.2		NA																	0				ovary(1)|lung(1)	2						c.(625-627)ATC>ATT		chemokine (C-C motif) receptor 8							111.0	108.0	109.0					3																	39374449		2203	4300	6503	SO:0001819	synonymous_variant	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374449C>T	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.627C>T	3.37:g.39374449C>T						CCR8_uc003cjm.2_Silent_p.I126I	p.I209I	NM_005201	NP_005192	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	765	+			209			Helical; Name=5; (Potential).		B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Silent	SNP	ENST00000326306.4	37	c.627C>T	CCDS2684.1																																																																																				0.398	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		25	34	0	0	0	0	25	34				
CCK	885	broad.mit.edu	37	3	42304950	42304950	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:42304950A>T	ENST00000396169.2	-	4	1078	c.173T>A	c.(172-174)cTg>cAg	p.L58Q	CCK_ENST00000334681.5_Missense_Mutation_p.L58Q|CCK_ENST00000434608.1_Missense_Mutation_p.L58Q	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	58					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axonogenesis (GO:0007409)|behavioral fear response (GO:0001662)|eating behavior (GO:0042755)|negative regulation of appetite (GO:0032099)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein oligomerization (GO:0032461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|release of cytochrome c from mitochondria (GO:0001836)|signal transduction (GO:0007165)	axon (GO:0030424)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|terminal bouton (GO:0043195)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CAGGGCGCCCAGGTGCGCTCG	0.672																																						uc003clc.1		NA																	0				central_nervous_system(1)	1						c.(172-174)CTG>CAG		cholecystokinin preproprotein							64.0	75.0	71.0					3																	42304950		2201	4300	6501	SO:0001583	missense	885				axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	g.chr3:42304950A>T		CCDS2696.1	3p22.1	2013-02-25			ENSG00000187094	ENSG00000187094		"""Endogenous ligands"""	1569	protein-coding gene	gene with protein product	"""prepro-cholecystokinin"", ""cholecystokinin triacontatriapeptide"""	118440				3856870	Standard	NM_001174138		Approved		uc021wwk.1	P06307	OTTHUMG00000131796	ENST00000396169.2:c.173T>A	3.37:g.42304950A>T	ENSP00000379472:p.Leu58Gln					CCK_uc003cld.1_Missense_Mutation_p.L58Q|CCK_uc011azk.1_Missense_Mutation_p.L58Q	p.L58Q	NM_000729	NP_000720	P06307	CCKN_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.219)	2	382	-		Ovarian(412;0.0728)	58						Missense_Mutation	SNP	ENST00000396169.2	37	c.173T>A	CCDS2696.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628620	0.87560	.	.	ENSG00000187094	ENST00000396169;ENST00000334681;ENST00000434608	T;T;T	0.26810	1.71;1.71;1.71	5.36	4.2	0.49525	Gastrin/cholecystokinin peptide hormone (1);	0.253635	0.39834	N	0.001255	T	0.48750	0.1517	M	0.79475	2.455	0.45718	D	0.998627	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.989	T	0.52298	-0.8594	10	0.87932	D	0	-32.5924	10.1757	0.42937	0.9216:0.0:0.0783:0.0	.	58;58	B7Z6Q9;P06307	.;CCKN_HUMAN	Q	58	ENSP00000379472:L58Q;ENSP00000335657:L58Q;ENSP00000409124:L58Q	ENSP00000335657:L58Q	L	-	2	0	CCK	42279954	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.823000	0.69272	2.161000	0.67846	0.533000	0.62120	CTG		0.672	CCK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343380.1	NM_000729		32	58	0	0	0	0	32	58				
TCAIM	285343	broad.mit.edu	37	3	44441904	44441904	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:44441904G>T	ENST00000342649.4	+	9	1370	c.943G>T	c.(943-945)Gac>Tac	p.D315Y	TCAIM_ENST00000417237.1_Missense_Mutation_p.D315Y	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	315						mitochondrion (GO:0005739)											GATTTTAGAAGACCAAATAAG	0.318																																						uc010him.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(943-945)GAC>TAC		hypothetical protein LOC285343 isoform 1							102.0	104.0	103.0					3																	44441904		2203	4294	6497	SO:0001583	missense	285343					mitochondrion		g.chr3:44441904G>T		CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.943G>T	3.37:g.44441904G>T	ENSP00000341539:p.Asp315Tyr					C3orf23_uc003cnd.3_Missense_Mutation_p.D315Y|C3orf23_uc003cne.3_Missense_Mutation_p.D171Y	p.D315Y	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)	9	1188	+			315					A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	ENST00000342649.4	37	c.943G>T	CCDS2712.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946344	0.73672	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.44482	0.92;0.92	5.74	4.86	0.63082	.	0.324923	0.37761	N	0.001954	T	0.35158	0.0922	N	0.25647	0.755	0.36864	D	0.888542	P	0.47253	0.892	B	0.43251	0.413	T	0.46775	-0.9167	10	0.66056	D	0.02	.	14.7541	0.69549	0.0694:0.0:0.9306:0.0	.	315	Q8N3R3	CC023_HUMAN	Y	315	ENSP00000402581:D315Y;ENSP00000341539:D315Y	ENSP00000341539:D315Y	D	+	1	0	C3orf23	44416908	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.979000	0.63806	1.426000	0.47256	0.563000	0.77884	GAC		0.318	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826		11	25	1	0	1.59e-06	2.59e-06	11	25				
CSPG5	10675	broad.mit.edu	37	3	47618790	47618790	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:47618790C>T	ENST00000383738.2	-	2	2824	c.726G>A	c.(724-726)gaG>gaA	p.E242E	CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Silent_p.E104E|CSPG5_ENST00000264723.4_Silent_p.E242E	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	242					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGTCTCTCCCTCAGTATCAG	0.527																																						uc003crp.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(724-726)GAG>GAA		chondroitin sulfate proteoglycan 5 (neuroglycan							35.0	36.0	36.0					3																	47618790		2203	4300	6503	SO:0001819	synonymous_variant	10675				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity	g.chr3:47618790C>T	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.726G>A	3.37:g.47618790C>T						CSPG5_uc003crn.2_Silent_p.E104E|CSPG5_uc003cro.3_Silent_p.E242E|CSPG5_uc011bbb.1_Silent_p.E104E	p.E242E	NM_006574	NP_006565	O95196	CSPG5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	2	902	-			242			Extracellular (Potential).		Q71M39|Q71M40	Silent	SNP	ENST00000383738.2	37	c.726G>A	CCDS56253.1																																																																																				0.527	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257489.1	NM_006574		9	12	0	0	0	0	9	12				
USP4	7375	broad.mit.edu	37	3	49377429	49377429	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:49377429C>G	ENST00000265560.4	-	1	75	c.29G>C	c.(28-30)cGa>cCa	p.R10P	USP4_ENST00000415188.1_Missense_Mutation_p.R10P|USP4_ENST00000351842.4_Missense_Mutation_p.R10P|USP4_ENST00000416417.1_Missense_Mutation_p.R10P	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	10					negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGCATCCGGTCGCTCACGGCA	0.697																																						uc003cwq.2		NA																	0				ovary(2)|urinary_tract(1)|lung(1)	4						c.(28-30)CGA>CCA		ubiquitin specific protease 4 isoform a							43.0	46.0	45.0					3																	49377429		2203	4300	6503	SO:0001583	missense	7375				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:49377429C>G	U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.29G>C	3.37:g.49377429C>G	ENSP00000265560:p.Arg10Pro					USP4_uc003cwr.2_Missense_Mutation_p.R10P	p.R10P	NM_003363	NP_003354	Q13107	UBP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)	1	108	-		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)	10					A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	c.29G>C	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.871175	0.51695	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.32023	1.94;2.08;1.47	4.83	3.04	0.35103	.	0.147875	0.64402	D	0.000014	T	0.10465	0.0256	N	0.08118	0	0.31569	N	0.656608	B;P	0.45044	0.002;0.849	B;B	0.37451	0.005;0.25	T	0.24621	-1.0155	10	0.02654	T	1	-7.4339	7.1491	0.25599	0.0:0.7988:0.0:0.2012	.	10;10	Q13107-2;Q13107	.;UBP4_HUMAN	P	10	ENSP00000341028:R10P;ENSP00000265560:R10P;ENSP00000400623:R10P	ENSP00000265560:R10P	R	-	2	0	USP4	49352433	1.000000	0.71417	0.989000	0.46669	0.595000	0.36748	3.319000	0.51983	0.640000	0.30582	0.462000	0.41574	CGA		0.697	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1	NM_199443		6	24	0	0	0	0	6	24				
CACNA1D	776	broad.mit.edu	37	3	53781378	53781378	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:53781378C>A	ENST00000350061.5	+	26	3728	c.3217C>A	c.(3217-3219)Cgt>Agt	p.R1073S	CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1093S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1073S|CACNA1D_ENST00000540742.1_5'Flank	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1073					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCTGTGGTCCGTGAACGGAT	0.527																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(3217-3219)CGT>AGT		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						187.0	169.0	175.0					3																	53781378		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53781378C>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.3217C>A	3.37:g.53781378C>A	ENSP00000288133:p.Arg1073Ser					CACNA1D_uc003dgu.3_Missense_Mutation_p.R1093S|CACNA1D_uc003dgy.3_Missense_Mutation_p.R1073S|CACNA1D_uc003dgw.3_Missense_Mutation_p.R740S|CACNA1D_uc003dgx.1_Missense_Mutation_p.R221S	p.R1073S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	26	3380	+			1073			Extracellular (Potential).|III.		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.3217C>A	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711134	0.48517	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86	5.91	5.91	0.95273	Ion transport (1);	0.419491	0.23933	N	0.043121	D	0.97012	0.9024	N	0.20881	0.62	0.80722	D	1	P;B;B;P	0.40107	0.703;0.046;0.02;0.487	P;B;B;B	0.51266	0.664;0.112;0.049;0.428	D	0.96596	0.9441	10	0.46703	T	0.11	.	14.942	0.71000	0.1763:0.8237:0.0:0.0	.	1073;766;1073;1093	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	S	1073;1093;1073;766	ENSP00000288133:R1073S;ENSP00000288139:R1093S;ENSP00000409174:R1073S;ENSP00000418014:R766S	ENSP00000288139:R1093S	R	+	1	0	CACNA1D	53756418	0.996000	0.38824	1.000000	0.80357	0.994000	0.84299	3.396000	0.52565	2.793000	0.96121	0.655000	0.94253	CGT		0.527	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		43	42	1	0	4.16e-14	7.91e-14	43	42				
ADAMTS9	56999	broad.mit.edu	37	3	64608244	64608244	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:64608244C>T	ENST00000498707.1	-	17	2750	c.2408G>A	c.(2407-2409)gGt>gAt	p.G803D	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G775D	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	803	Spacer.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAAGAATTCACCTTTACTGCT	0.403																																						uc003dmg.2		NA																	0				ovary(2)|urinary_tract(1)|skin(1)	4						c.(2407-2409)GGT>GAT		ADAM metallopeptidase with thrombospondin type 1							81.0	76.0	78.0					3																	64608244		2203	4300	6503	SO:0001583	missense	56999				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr3:64608244C>T	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.2408G>A	3.37:g.64608244C>T	ENSP00000418735:p.Gly803Asp					ADAMTS9_uc011bfo.1_Missense_Mutation_p.G775D|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G632D|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G803D	p.G803D	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)	17	2440	-		Lung NSC(201;0.00682)	803			Spacer.		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	ENST00000498707.1	37	c.2408G>A	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	C	17.37	3.372968	0.61624	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.55234	0.53;0.53	5.85	5.85	0.93711	ADAM-TS Spacer 1 (1);	0.063063	0.64402	D	0.000005	T	0.65943	0.2740	M	0.72353	2.195	0.80722	D	1	P;B;B;P	0.35944	0.529;0.245;0.238;0.529	B;B;B;P	0.46585	0.33;0.222;0.092;0.521	T	0.61936	-0.6960	10	0.39692	T	0.17	.	20.1736	0.98170	0.0:1.0:0.0:0.0	.	775;803;803;803	B7ZVX9;Q9P2N4-2;Q9P2N4-1;Q9P2N4	.;.;.;ATS9_HUMAN	D	775;803	ENSP00000295903:G775D;ENSP00000418735:G803D	ENSP00000295903:G775D	G	-	2	0	ADAMTS9	64583284	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	3.275000	0.51639	2.767000	0.95098	0.557000	0.71058	GGT		0.403	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1			17	20	0	0	0	0	17	20				
GPR27	2850	broad.mit.edu	37	3	71804129	71804129	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:71804129T>A	ENST00000304411.2	+	1	929	c.929T>A	c.(928-930)gTg>gAg	p.V310E	EIF4E3_ENST00000421769.2_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	310					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CGGGTCCTGGTGCGGCCCGGC	0.667																																						uc011bge.1		NA																	0				ovary(1)	1						c.(928-930)GTG>GAG		G protein-coupled receptor 27							26.0	34.0	31.0					3																	71804129		2203	4299	6502	SO:0001583	missense	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804129T>A	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.929T>A	3.37:g.71804129T>A	ENSP00000303149:p.Val310Glu					EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank	p.V310E	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	929	+		Prostate(10;0.00899)	310			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000304411.2	37	c.929T>A	CCDS2915.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869914	0.51588	.	.	ENSG00000170837	ENST00000304411	T	0.71103	-0.54	4.44	3.23	0.37069	GPCR, rhodopsin-like superfamily (1);	0.299087	0.26272	U	0.025331	T	0.78780	0.4337	M	0.69823	2.125	0.37082	D	0.899032	D	0.65815	0.995	P	0.60415	0.874	T	0.81441	-0.0931	10	0.72032	D	0.01	-5.8194	10.1181	0.42603	0.1502:0.0:0.0:0.8498	.	310	Q9NS67	GPR27_HUMAN	E	310	ENSP00000303149:V310E	ENSP00000303149:V310E	V	+	2	0	GPR27	71886819	1.000000	0.71417	0.815000	0.32552	0.354000	0.29330	4.064000	0.57506	0.530000	0.28619	0.372000	0.22366	GTG		0.667	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	NM_018971		10	15	0	0	0	0	10	15				
GXYLT2	727936	broad.mit.edu	37	3	73004273	73004273	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:73004273C>A	ENST00000389617.4	+	4	786	c.625C>A	c.(625-627)Ctt>Att	p.L209I		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	209					O-glycan processing (GO:0016266)	integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TGTGGACTCACTTCTCTACGT	0.468																																						uc003dpg.2		NA																	0					0						c.(625-627)CTT>ATT		glycosyltransferase 8 domain containing 4							69.0	67.0	67.0					3																	73004273		1944	4149	6093	SO:0001583	missense	727936				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	g.chr3:73004273C>A	AC098481	CCDS46870.1	3p13	2013-02-22	2009-11-17	2009-11-17	ENSG00000172986	ENSG00000172986		"""Glycosyltransferase family 8 domain containing"""	33383	protein-coding gene	gene with protein product		613322	"""glycosyltransferase 8 domain containing 4"""	GLT8D4		19940119	Standard	NM_001080393		Approved		uc003dpg.3	A0PJZ3	OTTHUMG00000158815	ENST00000389617.4:c.625C>A	3.37:g.73004273C>A	ENSP00000374268:p.Leu209Ile						p.L209I	NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN			4	625	+			209			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000389617.4	37	c.625C>A	CCDS46870.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106358	0.77096	.	.	ENSG00000172986	ENST00000389617;ENST00000498315	T;T	0.17528	2.27;2.27	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.19208	0.0461	L	0.40543	1.245	0.80722	D	1	P	0.37370	0.592	B	0.40329	0.326	T	0.02617	-1.1133	10	0.16896	T	0.51	.	19.212	0.93760	0.0:1.0:0.0:0.0	.	209	A0PJZ3	GXLT2_HUMAN	I	209;83	ENSP00000374268:L209I;ENSP00000417239:L83I	ENSP00000374268:L209I	L	+	1	0	GXYLT2	73086963	0.997000	0.39634	0.966000	0.40874	0.997000	0.91878	3.508000	0.53378	2.778000	0.95560	0.655000	0.94253	CTT		0.468	GXYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352318.1	NM_001080393		13	15	1	0	5.51e-06	8.83e-06	13	15				
PDZRN3	23024	broad.mit.edu	37	3	73433878	73433878	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:73433878C>A	ENST00000263666.4	-	10	1953	c.1839G>T	c.(1837-1839)ttG>ttT	p.L613F	PDZRN3_ENST00000466780.1_Missense_Mutation_p.L270F|PDZRN3_ENST00000462146.2_Missense_Mutation_p.L270F|PDZRN3_ENST00000535920.1_Missense_Mutation_p.L335F|PDZRN3_ENST00000479530.1_Missense_Mutation_p.L330F|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	613					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)		CGCCGCTGCCCAAGGTGTCCT	0.647																																						uc003dpl.1		NA																	0				pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7						c.(1837-1839)TTG>TTT		PDZ domain containing ring finger 3							67.0	65.0	66.0					3																	73433878		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433878C>A	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.1839G>T	3.37:g.73433878C>A	ENSP00000263666:p.Leu613Phe					PDZRN3_uc011bgh.1_Missense_Mutation_p.L270F|PDZRN3_uc010hoe.1_Missense_Mutation_p.L311F|PDZRN3_uc011bgf.1_Missense_Mutation_p.L330F|PDZRN3_uc011bgg.1_Missense_Mutation_p.L333F	p.L613F	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)	10	1935	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	613					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1839G>T	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.31|15.31	2.795939|2.795939	0.50208|0.50208	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.12569|.	2.67;3.37;3.27;3.27;3.38;3.31|.	4.77|4.77	3.82|3.82	0.43975|0.43975	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.71298|0.71298	0.3323|0.3323	M|M	0.65975|0.65975	2.015|2.015	0.58432|0.58432	D|D	0.999997|0.999997	P;P;D;D|.	0.58268|.	0.9;0.819;0.982;0.963|.	P;B;P;P|.	0.57548|.	0.65;0.312;0.823;0.715|.	T|T	0.71224|0.71224	-0.4656|-0.4656	10|5	0.56958|.	D|.	0.05|.	.|.	14.5758|14.5758	0.68246|0.68246	0.1848:0.8152:0.0:0.0|0.1848:0.8152:0.0:0.0	.|.	335;330;330;613|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	F|L	613;335;270;270;330;613;311|210	ENSP00000263666:L613F;ENSP00000442026:L335F;ENSP00000418168:L270F;ENSP00000418484:L270F;ENSP00000418624:L330F;ENSP00000419250:L311F|.	ENSP00000263666:L613F|.	L|W	-|-	3|2	2|0	PDZRN3|PDZRN3	73516568|73516568	0.034000|0.034000	0.19679|0.19679	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	-1.016000|-1.016000	0.03633|0.03633	2.464000|2.464000	0.83262|0.83262	0.655000|0.655000	0.94253|0.94253	TTG|TGG		0.647	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		25	36	1	0	3.01e-09	5.26e-09	25	36				
POU1F1	5449	broad.mit.edu	37	3	87313582	87313582	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:87313582C>A	ENST00000350375.2	-	3	419	c.295G>T	c.(295-297)Gca>Tca	p.A99S	POU1F1_ENST00000344265.3_Missense_Mutation_p.A125S|POU1F1_ENST00000560656.1_Missense_Mutation_p.A99S	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	99					B cell differentiation (GO:0030183)|cell fate specification (GO:0001708)|determination of adult lifespan (GO:0008340)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear transport (GO:0051169)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin-like growth factor receptor signaling pathway (GO:0043567)|somatotropin secreting cell development (GO:0060133)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GGGTCCTCTGCCAGAAGAGGC	0.438																																						uc003dqq.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(295-297)GCA>TCA		pituitary specific transcription factor 1							84.0	89.0	87.0					3																	87313582		2203	4299	6502	SO:0001583	missense	5449				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:87313582C>A	D10216	CCDS2919.1, CCDS46873.1	3p11.2	2011-06-20	2007-07-13		ENSG00000064835	ENSG00000064835		"""Homeoboxes / POU class"""	9210	protein-coding gene	gene with protein product	"""growth hormone factor 1"""	173110	"""POU domain class 1, transcription factor 1"""	PIT1		1956794	Standard	NM_001122757		Approved	GHF-1, POU1F1a	uc010hoj.1	P28069	OTTHUMG00000158992	ENST00000350375.2:c.295G>T	3.37:g.87313582C>A	ENSP00000263781:p.Ala99Ser					POU1F1_uc010hoj.1_Missense_Mutation_p.A125S	p.A99S	NM_000306	NP_000297	P28069	PIT1_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)	3	420	-	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)	99					O75757|Q15132|Q15133|Q9UD34|Q9UEL3	Missense_Mutation	SNP	ENST00000350375.2	37	c.295G>T	CCDS2919.1	.	.	.	.	.	.	.	.	.	.	C	2.358	-0.347187	0.05208	.	.	ENSG00000064835	ENST00000350375;ENST00000344265	D;D	0.88354	-2.29;-2.37	5.79	2.94	0.34122	.	0.618988	0.17631	N	0.167381	T	0.67420	0.2891	N	0.03050	-0.425	0.23795	N	0.996825	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.56511	-0.7967	10	0.02654	T	1	.	5.8686	0.18791	0.2473:0.5633:0.1199:0.0695	.	125;99	P28069-2;P28069	.;PIT1_HUMAN	S	99;125	ENSP00000263781:A99S;ENSP00000342931:A125S	ENSP00000342931:A125S	A	-	1	0	POU1F1	87396272	0.009000	0.17119	0.979000	0.43373	0.918000	0.54935	0.029000	0.13666	0.325000	0.23359	0.655000	0.94253	GCA		0.438	POU1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352827.1	NM_000306		39	36	1	0	6.24e-21	1.27e-20	39	36				
EPHA3	2042	broad.mit.edu	37	3	89391052	89391052	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:89391052G>T	ENST00000336596.2	+	5	1343	c.1118G>T	c.(1117-1119)tGt>tTt	p.C373F	EPHA3_ENST00000494014.1_Missense_Mutation_p.C373F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C373F	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	373	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATAAAACAGTGTGAGCCATGC	0.493										TSP Lung(6;0.00050)																												uc003dqy.2		NA																	0				lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1117-1119)TGT>TTT		ephrin receptor EphA3 isoform a precursor							116.0	108.0	111.0					3																	89391052		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391052G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1118G>T	3.37:g.89391052G>T	ENSP00000337451:p.Cys373Phe	TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.C373F|EPHA3_uc010hon.1_RNA	p.C373F	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1343	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	373			Extracellular (Potential).|Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1118G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011475	0.75046	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.99382	-5.8;-5.8;-5.8	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.98505	1.0616	9	.	.	.	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	373;373	P29320;P29320-2	EPHA3_HUMAN;.	F	373	ENSP00000337451:C373F;ENSP00000399926:C373F;ENSP00000419190:C373F	.	C	+	2	0	EPHA3	89473742	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	TGT		0.493	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		14	28	1	0	1.36e-06	2.23e-06	14	28				
EPHA6	285220	broad.mit.edu	37	3	97454962	97454962	+	Splice_Site	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:97454962T>C	ENST00000389672.5	+	16	3166	c.3128T>C	c.(3127-3129)gTa>gCa	p.V1043A		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	949						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						GACATCCTTGTGTAAGAGGCA	0.383																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(3127-3129)GTA>GCA		EPH receptor A6 isoform a							69.0	67.0	67.0					3																	97454962		1871	4111	5982	SO:0001630	splice_region_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97454962T>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.3128+1T>C	3.37:g.97454962T>C						EPHA6_uc003drt.2_Missense_Mutation_p.V435A|EPHA6_uc010hox.1_RNA	p.V1043A	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			16	3171	+			948			Cytoplasmic (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.3128T>C	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.059610	0.55325	.	.	ENSG00000080224	ENST00000389672	T	0.61980	0.06	5.7	5.7	0.88788	Protein kinase-like domain (1);	.	.	.	.	T	0.38401	0.1039	N	0.04508	-0.205	0.80722	D	1	B	0.12013	0.005	B	0.10450	0.005	T	0.30707	-0.9969	9	0.20519	T	0.43	.	11.8861	0.52602	0.0:0.0:0.1456:0.8544	.	948	Q9UF33	EPHA6_HUMAN	A	1043	ENSP00000374323:V1043A	ENSP00000374323:V1043A	V	+	2	0	EPHA6	98937652	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.963000	0.56773	2.171000	0.68590	0.459000	0.35465	GTA		0.383	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448	Missense_Mutation	44	35	0	0	0	0	44	35				
OR5H14	403273	broad.mit.edu	37	3	97868383	97868383	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:97868383G>A	ENST00000437310.1	+	1	214	c.154G>A	c.(154-156)Gac>Aac	p.D52N	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	52						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(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CATCTGGAAAGACCCTCATCT	0.413																																						uc003dsg.1		NA																	0				skin(1)	1						c.(154-156)GAC>AAC		olfactory receptor, family 5, subfamily H,							326.0	329.0	328.0					3																	97868383		2203	4300	6503	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868383G>A		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.154G>A	3.37:g.97868383G>A	ENSP00000401706:p.Asp52Asn						p.D52N	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	154	+			52			Cytoplasmic (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.154G>A	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.910664	0.33721	.	.	ENSG00000236032	ENST00000437310	T	0.02837	4.14	2.49	1.57	0.23409	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000256	T	0.07638	0.0192	M	0.70275	2.135	0.09310	N	1	D	0.55385	0.971	P	0.59703	0.862	T	0.11155	-1.0599	10	0.40728	T	0.16	.	3.8649	0.09012	0.3455:0.0:0.6545:0.0	.	52	A6NHG9	O5H14_HUMAN	N	52	ENSP00000401706:D52N	ENSP00000401706:D52N	D	+	1	0	OR5H14	99351073	0.000000	0.05858	0.997000	0.53966	0.337000	0.28794	0.216000	0.17585	1.380000	0.46344	0.195000	0.17529	GAC		0.413	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			89	425	0	0	0	0	89	425				
COL8A1	1295	broad.mit.edu	37	3	99513943	99513943	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:99513943C>A	ENST00000261037.3	+	5	1578	c.1198C>A	c.(1198-1200)Cct>Act	p.P400T	COL8A1_ENST00000273342.4_Missense_Mutation_p.P400T	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	400	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						AATCCCAGGTCCTATGGGCCC	0.612																																						uc003dtg.1		NA																	0					0						c.(1198-1200)CCT>ACT		alpha 1 type VIII collagen precursor							27.0	30.0	29.0					3																	99513943		2203	4300	6503	SO:0001583	missense	1295				angiogenesis|cell adhesion	basement membrane|collagen type VIII		g.chr3:99513943C>A	AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1198C>A	3.37:g.99513943C>A	ENSP00000261037:p.Pro400Thr					COL8A1_uc003dth.1_Missense_Mutation_p.P400T|COL8A1_uc003dti.1_Missense_Mutation_p.P401T	p.P400T	NM_001850	NP_001841	P27658	CO8A1_HUMAN			5	1443	+			400			Triple-helical region (COL1).		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	ENST00000261037.3	37	c.1198C>A	CCDS2934.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951471	0.34471	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.93076	-3.16;-3.16	5.93	5.93	0.95920	.	0.269328	0.42294	D	0.000733	D	0.89959	0.6866	L	0.39147	1.195	0.41646	D	0.989102	B;B	0.25719	0.132;0.132	B;B	0.24155	0.051;0.051	D	0.85965	0.1473	10	0.19147	T	0.46	.	17.8375	0.88704	0.0:1.0:0.0:0.0	.	401;400	E7EPK9;P27658	.;CO8A1_HUMAN	T	400	ENSP00000261037:P400T;ENSP00000273342:P400T	ENSP00000261037:P400T	P	+	1	0	COL8A1	100996633	0.065000	0.20965	0.998000	0.56505	0.995000	0.86356	1.664000	0.37439	2.802000	0.96397	0.563000	0.77884	CCT		0.612	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309001.1	NM_001850		8	62	1	0	0.00307968	0.00445776	8	62				
MYH15	22989	broad.mit.edu	37	3	108211406	108211406	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:108211406G>A	ENST00000273353.3	-	10	928	c.872C>T	c.(871-873)gCt>gTt	p.A291V		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	291	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTCTCTCCAGCCTGCTGGAA	0.368																																						uc003dxa.1		NA																	0				ovary(5)|central_nervous_system(2)	7						c.(871-873)GCT>GTT		myosin, heavy polypeptide 15							91.0	84.0	86.0					3																	108211406		1818	4089	5907	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108211406G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.872C>T	3.37:g.108211406G>A	ENSP00000273353:p.Ala291Val						p.A291V	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			10	929	-			291			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.872C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090989	0.36855	.	.	ENSG00000144821	ENST00000273353	D	0.88046	-2.33	4.97	2.12	0.27331	Myosin head, motor domain (2);	.	.	.	.	T	0.80226	0.4584	L	0.33189	0.99	0.09310	N	1	B	0.20164	0.042	B	0.25759	0.063	T	0.66897	-0.5807	9	0.42905	T	0.14	.	8.6317	0.33924	0.0719:0.0:0.6568:0.2713	.	291	Q9Y2K3	MYH15_HUMAN	V	291	ENSP00000273353:A291V	ENSP00000273353:A291V	A	-	2	0	MYH15	109694096	0.072000	0.21174	0.138000	0.22173	0.705000	0.40729	2.394000	0.44450	0.131000	0.18576	-0.142000	0.14014	GCT		0.368	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		14	44	0	0	0	0	14	44				
TRAT1	50852	broad.mit.edu	37	3	108549617	108549617	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:108549617G>T	ENST00000295756.6	+	2	338	c.108G>T	c.(106-108)aaG>aaT	p.K36N	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	36					cellular defense response (GO:0006968)|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)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ATGTGGAAAAGCAACGACAAG	0.418																																						uc003dxi.1		NA																	0				skin(1)	1						c.(106-108)AAG>AAT		T-cell receptor interacting molecule							148.0	142.0	144.0					3																	108549617		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108549617G>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.108G>T	3.37:g.108549617G>T	ENSP00000295756:p.Lys36Asn					TRAT1_uc010hpx.1_Intron	p.K36N	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			2	252	+			36			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.108G>T	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041330	0.55003	.	.	ENSG00000163519	ENST00000295756	T	0.37915	1.17	5.16	1.32	0.21799	.	0.607998	0.15529	N	0.257618	T	0.50377	0.1612	M	0.67953	2.075	0.80722	D	1	D	0.67145	0.996	D	0.64776	0.929	T	0.48115	-0.9063	10	0.66056	D	0.02	-12.9551	7.3695	0.26794	0.3654:0.0:0.6346:0.0	.	36	Q6PIZ9	TRAT1_HUMAN	N	36	ENSP00000295756:K36N	ENSP00000295756:K36N	K	+	3	2	TRAT1	110032307	0.992000	0.36948	0.733000	0.30861	0.918000	0.54935	0.846000	0.27682	0.348000	0.23949	-0.229000	0.12294	AAG		0.418	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		36	178	1	0	6.03e-25	1.26e-24	36	178				
TRAT1	50852	broad.mit.edu	37	3	108568018	108568018	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:108568018A>G	ENST00000295756.6	+	5	450	c.220A>G	c.(220-222)Atg>Gtg	p.M74V	TRAT1_ENST00000426646.1_Missense_Mutation_p.M37V	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	74					cellular defense response (GO:0006968)|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)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CCAAGAACCAATGGATGAAAA	0.338																																						uc003dxi.1		NA																	0				skin(1)	1						c.(220-222)ATG>GTG		T-cell receptor interacting molecule							66.0	68.0	67.0					3																	108568018		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108568018A>G	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.220A>G	3.37:g.108568018A>G	ENSP00000295756:p.Met74Val					TRAT1_uc010hpx.1_Missense_Mutation_p.M37V	p.M74V	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			5	364	+			74			Cytoplasmic (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.220A>G	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.285105	0.01398	.	.	ENSG00000163519	ENST00000295756;ENST00000426646	T;T	0.38887	1.11;1.11	5.3	-9.92	0.00455	.	1.321060	0.04828	N	0.438180	T	0.10294	0.0252	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23583	-1.0184	10	0.02654	T	1	-24.0327	8.1794	0.31302	0.1634:0.1169:0.6101:0.1096	.	37;74	C9JF66;Q6PIZ9	.;TRAT1_HUMAN	V	74;37	ENSP00000295756:M74V;ENSP00000410097:M37V	ENSP00000295756:M74V	M	+	1	0	TRAT1	110050708	0.000000	0.05858	0.137000	0.22149	0.906000	0.53458	-0.638000	0.05452	-1.802000	0.01244	-1.756000	0.00673	ATG		0.338	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		15	71	0	0	0	0	15	71				
ADPRH	141	broad.mit.edu	37	3	119301305	119301305	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:119301305C>A	ENST00000478399.1	+	2	1694	c.289C>A	c.(289-291)Cgg>Agg	p.R97R	ADPRH_ENST00000465513.1_Silent_p.R97R|RP11-190C22.9_ENST00000609385.1_RNA|ADPRH_ENST00000357003.3_Silent_p.R97R|ADPRH_ENST00000478927.1_Silent_p.R97R|ADPRH_ENST00000471850.1_Intron			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	97					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CATGGATGGGCGGGCACCAGG	0.473																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.2		NA																	0				ovary(1)	1						c.(289-291)CGG>AGG		ADP-ribosylarginine hydrolase							53.0	54.0	53.0					3																	119301305		2203	4300	6503	SO:0001819	synonymous_variant	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119301305C>A	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.289C>A	3.37:g.119301305C>A						ADPRH_uc010hqv.2_Silent_p.R97R|ADPRH_uc011bjb.1_Intron|ADPRH_uc003ect.2_Silent_p.R97R	p.R97R	NM_001125	NP_001116	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	3	587	+		Lung NSC(201;0.0977)	97					B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	37	c.289C>A	CCDS2990.1																																																																																				0.473	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		14	84	1	0	9.77e-05	0.000149631	14	84				
GTF2E1	2960	broad.mit.edu	37	3	120469827	120469827	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:120469827A>T	ENST00000283875.5	+	2	521	c.428A>T	c.(427-429)cAg>cTg	p.Q143L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	143					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.Q143P(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GAAGCTAATCAGCTCTTTGAT	0.353																																						uc003edz.3		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(427-429)CAG>CTG		general transcription factor IIE, polypeptide 1,							57.0	59.0	58.0					3																	120469827		2203	4300	6503	SO:0001583	missense	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469827A>T	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.428A>T	3.37:g.120469827A>T	ENSP00000283875:p.Gln143Leu					GTF2E1_uc003edy.2_Missense_Mutation_p.Q143L	p.Q143L	NM_005513	NP_005504	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	542	+			143			C4-type (Potential).		Q16103	Missense_Mutation	SNP	ENST00000283875.5	37	c.428A>T	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432259	0.83776	.	.	ENSG00000153767	ENST00000283875	T	0.48836	0.8	6.06	4.9	0.64082	Zinc finger, TFIIB-type (1);Zinc finger, RING/FYVE/PHD-type (1);	0.051201	0.85682	D	0.000000	T	0.56171	0.1967	M	0.79123	2.44	0.80722	D	1	B;B	0.33528	0.177;0.416	B;B	0.43194	0.411;0.213	T	0.54596	-0.8270	9	.	.	.	-31.9096	11.419	0.49969	0.93:0.0:0.07:0.0	.	143;143	P29083;Q53F88	T2EA_HUMAN;.	L	143	ENSP00000283875:Q143L	.	Q	+	2	0	GTF2E1	121952517	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.412000	0.80091	1.116000	0.41820	0.533000	0.62120	CAG		0.353	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		18	64	0	0	0	0	18	64				
STXBP5L	9515	broad.mit.edu	37	3	121001149	121001149	+	Missense_Mutation	SNP	C	C	A	rs189688053		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:121001149C>A	ENST00000273666.6	+	20	2418	c.2147C>A	c.(2146-2148)cCt>cAt	p.P716H	STXBP5L_ENST00000472879.1_Intron|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P716H|STXBP5L_ENST00000497029.1_Missense_Mutation_p.P716H|STXBP5L_ENST00000471454.1_Intron	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	716					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AACTTTTATCCTGATTTAACG	0.383																																						uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(2146-2148)CCT>CAT		syntaxin binding protein 5-like							106.0	94.0	98.0					3																	121001149		1938	4161	6099	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121001149C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2147C>A	3.37:g.121001149C>A	ENSP00000273666:p.Pro716His					STXBP5L_uc011bji.1_Intron	p.P716H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	20	2287	+			716					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.2147C>A	CCDS43137.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	23.5	4.423504	0.83559	.	.	ENSG00000145087	ENST00000273666;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T	0.36340	1.95;1.26;1.74;1.94	5.75	5.75	0.90469	.	0.174496	0.52532	D	0.000062	T	0.44850	0.1313	N	0.22421	0.69	0.52099	D	0.999947	D	0.69078	0.997	P	0.58577	0.841	T	0.36962	-0.9726	10	0.52906	T	0.07	-18.9941	19.9381	0.97149	0.0:1.0:0.0:0.0	.	716	Q9Y2K9	STB5L_HUMAN	H	716	ENSP00000273666:P716H;ENSP00000420287:P716H;ENSP00000420666:P716H;ENSP00000420167:P716H	ENSP00000273666:P716H	P	+	2	0	STXBP5L	122483839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.701000	0.92244	0.585000	0.79938	CCT		0.383	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			15	54	1	0	1.36e-06	2.23e-06	15	54				
CD86	942	broad.mit.edu	37	3	121838297	121838297	+	Silent	SNP	T	T	C	rs370205826		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:121838297T>C	ENST00000330540.2	+	7	1022	c.906T>C	c.(904-906)caT>caC	p.H302H	CD86_ENST00000264468.5_Silent_p.H89H|CD86_ENST00000493101.1_Silent_p.H190H|CD86_ENST00000393627.2_Silent_p.H296H|CD86_ENST00000469710.1_Silent_p.H220H	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	302					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	AAAAAATCCATATACCTGAAA	0.338																																					GBM(67;1379 1389 36064 39806)	uc003eet.2		NA																	0				pancreas(1)|skin(1)	2						c.(904-906)CAT>CAC		CD86 antigen isoform 1	Abatacept(DB01281)	T	,,,,	0,4406		0,0,2203	64.0	66.0	65.0		570,660,888,906,744	-7.9	0.0	3		65	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CD86	NM_001206924.1,NM_001206925.1,NM_006889.4,NM_175862.4,NM_176892.1	,,,,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,,,,	190/218,220/248,296/324,302/330,248/276	121838297	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121838297T>C		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.906T>C	3.37:g.121838297T>C						CD86_uc011bjo.1_Silent_p.H220H|CD86_uc011bjp.1_Silent_p.H190H|CD86_uc003eeu.2_Silent_p.H296H	p.H302H	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	7	1022	+			302			Cytoplasmic (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Silent	SNP	ENST00000330540.2	37	c.906T>C	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	T	2.005	-0.428407	0.04701	0.0	1.16E-4	ENSG00000114013	ENST00000478741	.	.	.	3.96	-7.93	0.01156	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19943	-1.0290	4	.	.	.	-0.2197	1.6127	0.02697	0.2617:0.3743:0.1236:0.2404	.	.	.	.	H	250	.	.	Y	+	1	0	CD86	123320987	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.186000	0.03070	-1.829000	0.01201	-0.371000	0.07208	TAT		0.338	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		17	57	0	0	0	0	17	57				
SEMA5B	54437	broad.mit.edu	37	3	122642512	122642512	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:122642512G>T	ENST00000357599.3	-	10	1610	c.1224C>A	c.(1222-1224)aaC>aaA	p.N408K	SEMA5B_ENST00000195173.4_Missense_Mutation_p.N408K|SEMA5B_ENST00000451055.2_Missense_Mutation_p.N462K	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	408	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGCCCTGGGGTTCTCCTGGT	0.557																																						uc003efz.1		NA																	0				ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7						c.(1222-1224)AAC>AAA		semaphorin 5B isoform 1							98.0	99.0	99.0					3																	122642512		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122642512G>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1224C>A	3.37:g.122642512G>T	ENSP00000350215:p.Asn408Lys					SEMA5B_uc011bju.1_Missense_Mutation_p.N350K|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Missense_Mutation_p.N408K|SEMA5B_uc010hro.1_Missense_Mutation_p.N350K|SEMA5B_uc010hrp.1_RNA	p.N408K	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	10	1528	-			408			Extracellular (Potential).|Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1224C>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488399	0.64074	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.22	1.5	0.22942	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.153474	0.56097	D	0.000029	T	0.20780	0.0500	L	0.41824	1.3	0.48511	D	0.999668	B;P;P	0.41848	0.438;0.763;0.635	B;P;P	0.45037	0.336;0.467;0.467	T	0.02603	-1.1135	10	0.62326	D	0.03	.	10.2913	0.43596	0.2827:0.0:0.7173:0.0	.	350;408;408	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	K	408;408;350;462;408	ENSP00000350215:N408K;ENSP00000195173:N408K;ENSP00000389588:N462K;ENSP00000377208:N408K	ENSP00000195173:N408K	N	-	3	2	SEMA5B	124125202	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.121000	0.31283	0.465000	0.27167	-0.137000	0.14449	AAC		0.557	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		31	135	1	0	1.89e-17	3.75e-17	31	135				
MYLK	4638	broad.mit.edu	37	3	123427705	123427705	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:123427705C>A	ENST00000475616.1	-	12	1979	c.1980G>T	c.(1978-1980)ggG>ggT	p.G660G	MYLK_ENST00000359169.1_Silent_p.G660G|MYLK_ENST00000360772.3_Silent_p.G660G|MYLK_ENST00000360304.3_Silent_p.G660G|MYLK_ENST00000346322.5_Silent_p.G591G			Q15746	MYLK_HUMAN	myosin light chain kinase	660	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGATCTCATTCCCATTGTGCA	0.562																																						uc003ego.2		NA																	0				ovary(6)|skin(2)|stomach(1)	9						c.(1978-1980)GGG>GGT		myosin light chain kinase isoform 1							94.0	91.0	92.0					3																	123427705		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123427705C>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1980G>T	3.37:g.123427705C>A						MYLK_uc011bjw.1_Silent_p.G660G|MYLK_uc003egp.2_Silent_p.G591G|MYLK_uc003egq.2_Silent_p.G660G|MYLK_uc003egr.2_Silent_p.G591G|MYLK_uc003egs.2_Silent_p.G484G	p.G660G	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	15	2262	-		Lung NSC(201;0.0496)	660			Ig-like C2-type 5.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.1980G>T	CCDS46896.1																																																																																				0.562	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		22	127	1	0	9.96e-16	1.94e-15	22	127				
CCDC14	64770	broad.mit.edu	37	3	123633847	123633847	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:123633847G>T	ENST00000488653.2	-	13	2731	c.2641C>A	c.(2641-2643)Cat>Aat	p.H881N	CCDC14_ENST00000433542.2_Missense_Mutation_p.H840N|CCDC14_ENST00000310351.4_Missense_Mutation_p.H721N|CCDC14_ENST00000489746.1_Missense_Mutation_p.H681N|CCDC14_ENST00000485727.1_Missense_Mutation_p.H681N|CCDC14_ENST00000483247.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	881					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GATGGGCCATGACATGCAGTT	0.458																																						uc011bjx.1		NA																	0					0						c.(2641-2643)CAT>AAT		coiled-coil domain containing 14							137.0	119.0	125.0					3																	123633847		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123633847G>T	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2641C>A	3.37:g.123633847G>T	ENSP00000420180:p.His881Asn					CCDC14_uc003egv.3_Missense_Mutation_p.H522N|CCDC14_uc003egx.3_Missense_Mutation_p.H681N|CCDC14_uc010hrt.2_Missense_Mutation_p.H840N|CCDC14_uc003egy.3_Missense_Mutation_p.H681N|CCDC14_uc003egz.2_3'UTR	p.H881N	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	13	2732	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	881					B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.2641C>A		.	.	.	.	.	.	.	.	.	.	G	4.230	0.041654	0.08196	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81	4.97	3.13	0.36017	.	0.893166	0.09668	N	0.771601	T	0.38852	0.1056	L	0.50333	1.59	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.10450	0.005;0.005;0.005	T	0.41360	-0.9513	10	0.59425	D	0.04	.	2.2323	0.04000	0.2087:0.1411:0.5051:0.1451	.	881;840;722	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	N	881;721;681;681;840;862	ENSP00000420180:H881N;ENSP00000312031:H721N;ENSP00000418002:H681N;ENSP00000418403:H681N;ENSP00000395706:H840N;ENSP00000386866:H862N	ENSP00000312031:H721N	H	-	1	0	CCDC14	125116537	0.012000	0.17670	0.005000	0.12908	0.239000	0.25481	1.853000	0.39358	0.647000	0.30713	0.591000	0.81541	CAT		0.458	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		18	89	1	0	3.41e-10	6.11e-10	18	89				
KALRN	8997	broad.mit.edu	37	3	124377324	124377324	+	Missense_Mutation	SNP	G	G	T	rs144160219		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:124377324G>T	ENST00000291478.5	+	9	1152	c.989G>T	c.(988-990)cGc>cTc	p.R330L	KALRN_ENST00000360013.3_Missense_Mutation_p.R2027L|KALRN_ENST00000393496.1_Missense_Mutation_p.R368L|KALRN_ENST00000428018.2_Missense_Mutation_p.R298L|KALRN_ENST00000459915.1_Missense_Mutation_p.R119L	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2026					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AATAAGCCGCGCTCAGAGTAC	0.507																																						uc003ehg.2		NA																	0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(6079-6081)CGC>CTC		kalirin, RhoGEF kinase isoform 1							188.0	145.0	159.0					3																	124377324		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124377324G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.989G>T	3.37:g.124377324G>T	ENSP00000291478:p.Arg330Leu					KALRN_uc003ehi.2_Missense_Mutation_p.R368L|KALRN_uc003ehk.2_Missense_Mutation_p.R330L|KALRN_uc011bjz.1_Missense_Mutation_p.R119L	p.R2027L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			42	6207	+			2026			DH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000291478.5	37	c.6080G>T	CCDS3028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.16|13.16	2.154278|2.154278	0.38021|0.38021	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000354186|ENST00000360013;ENST00000393496;ENST00000291478;ENST00000428018;ENST00000459915	.|T;T;T;T;T	.|0.63744	.|-0.06;-0.06;-0.06;-0.06;-0.06	4.6|4.6	4.6|4.6	0.57074|0.57074	.|Dbl homology (DH) domain (5);	.|0.218508	.|0.40222	.|N	.|0.001153	T|T	0.56124|0.56124	0.1964|0.1964	N|N	0.16602|0.16602	0.42|0.42	0.34795|0.34795	D|D	0.736129|0.736129	.|B;P;P;B	.|0.47350	.|0.006;0.894;0.87;0.321	.|B;P;P;B	.|0.51615	.|0.022;0.675;0.657;0.068	T|T	0.68492|0.68492	-0.5394|-0.5394	5|10	.|0.59425	.|D	.|0.04	.|.	12.4356|12.4356	0.55598|0.55598	0.0812:0.0:0.9188:0.0|0.0812:0.0:0.9188:0.0	.|.	.|119;330;368;2026	.|E7EUZ8;C9JQ37;O60229-5;O60229	.|.;.;.;KALRN_HUMAN	S|L	1996|2027;368;330;298;119	.|ENSP00000353109:R2027L;ENSP00000377134:R368L;ENSP00000291478:R330L;ENSP00000402419:R298L;ENSP00000420318:R119L	.|ENSP00000291478:R330L	A|R	+|+	1|2	0|0	KALRN|KALRN	125860014|125860014	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.631000|0.631000	0.37964|0.37964	4.899000|4.899000	0.63245|0.63245	2.549000|2.549000	0.85964|0.85964	0.650000|0.650000	0.86243|0.86243	GCT|CGC		0.507	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		24	99	1	0	1.18e-12	2.18e-12	24	99				
ALDH1L1	10840	broad.mit.edu	37	3	125879696	125879696	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:125879696C>A	ENST00000393434.2	-	2	476	c.127G>T	c.(127-129)Ggt>Tgt	p.G43C	ALDH1L1_ENST00000452905.2_Splice_Site_p.G43C|ALDH1L1_ENST00000273450.3_Splice_Site_p.G53C|ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000472186.1_Splice_Site_p.G43C|U1_ENST00000606575.1_RNA|ALDH1L1_ENST00000393431.2_Splice_Site_p.G43C	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	43	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTCACTCACCCAGGGGGTCG	0.602																																						uc003eim.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(127-129)GGT>TGT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						112.0	107.0	108.0					3																	125879696		2203	4300	6503	SO:0001630	splice_region_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125879696C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.127+1G>T	3.37:g.125879696C>A						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Missense_Mutation_p.G43C|ALDH1L1_uc010hsf.1_Missense_Mutation_p.W7C|ALDH1L1_uc003eip.1_5'Flank|ALDH1L1_uc011bkj.1_5'UTR	p.G43C	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	2	317	-			43			GART.		B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.127G>T	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345930	0.95807	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000490367;ENST00000460368;ENST00000488356;ENST00000509952	T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	4.76	4.76	0.60689	Formyl transferase, N-terminal (3);	0.135241	0.48286	D	0.000182	T	0.81959	0.4933	L	0.41573	1.285	0.80722	D	1	D;D	0.71674	0.998;0.991	D;D	0.66979	0.928;0.948	T	0.80670	-0.1279	9	.	.	.	.	15.3094	0.74019	0.0:1.0:0.0:0.0	.	43;43	E9PBX3;O75891	.;AL1L1_HUMAN	C	53;43;43;43;43;43;43;43;43	ENSP00000273450:G53C;ENSP00000420293:G43C;ENSP00000395881:G43C;ENSP00000377083:G43C;ENSP00000377081:G43C;ENSP00000418711:G43C;ENSP00000419826:G43C;ENSP00000419955:G43C;ENSP00000426594:G43C	.	G	-	1	0	ALDH1L1	127362386	1.000000	0.71417	1.000000	0.80357	0.499000	0.33736	7.351000	0.79395	2.466000	0.83321	0.467000	0.42956	GGT		0.602	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190	Missense_Mutation	28	162	1	0	9.39e-14	1.78e-13	28	162				
UROC1	131669	broad.mit.edu	37	3	126218903	126218903	+	Missense_Mutation	SNP	C	C	A	rs142723755		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:126218903C>A	ENST00000290868.2	-	12	1293	c.1240G>T	c.(1240-1242)Gca>Tca	p.A414S	UROC1_ENST00000383579.3_Missense_Mutation_p.A474S	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	414					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ctcctACCTGCTCTCTGGGCC	0.632																																						uc003eiz.1		NA																	0				ovary(1)	1						c.(1240-1242)GCA>TCA		urocanase domain containing 1 isoform 1							77.0	71.0	73.0					3																	126218903		2203	4300	6503	SO:0001583	missense	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126218903C>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.1240G>T	3.37:g.126218903C>A	ENSP00000290868:p.Ala414Ser					UROC1_uc010hsi.1_Missense_Mutation_p.A474S	p.A414S	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	12	1272	-			414					E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	ENST00000290868.2	37	c.1240G>T	CCDS3038.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.039584	0.75732	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.46819	0.86;0.86	4.68	4.68	0.58851	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.76154	0.3948	H	0.95365	3.66	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71414	0.969;0.973	T	0.81512	-0.0899	10	0.37606	T	0.19	.	15.4595	0.75342	0.0:1.0:0.0:0.0	.	474;414	E9PE13;Q96N76	.;HUTU_HUMAN	S	414;474	ENSP00000290868:A414S;ENSP00000373073:A474S	ENSP00000290868:A414S	A	-	1	0	UROC1	127701593	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.039000	0.76544	2.310000	0.77875	0.586000	0.80456	GCA		0.632	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		15	64	1	0	2.23e-06	3.63e-06	15	64				
TXNRD3NB	645840	broad.mit.edu	37	3	126291216	126291216	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:126291216C>A	ENST00000404489.2	-	1	263	c.171G>T	c.(169-171)ggG>ggT	p.G57G	TXNRD3NB_ENST00000383572.2_Silent_p.G57G			Q6F5E7	TR3N_HUMAN	thioredoxin reductase 3 neighbor	57										endometrium(1)|large_intestine(2)|skin(2)	5						GACTGGGAAACCCCTGTCCAA	0.547																																						uc003ejc.2		NA																	0					0						c.(169-171)GGG>GGT		thioredoxin reductase 3 intronic transcript 1							63.0	69.0	67.0					3																	126291216		2203	4300	6503	SO:0001819	synonymous_variant	645840							g.chr3:126291216C>A	BC130546	CCDS33846.1	3q21.3	2011-04-13	2011-04-13	2011-04-13	ENSG00000206483	ENSG00000206483			33870	protein-coding gene	gene with protein product	"""thioredoxin reductase 3 new transcript 1"""		"""thioredoxin reductase 3 intronic transcript 1"""	TXNRD3IT1		15674732	Standard	NM_001039783		Approved	TR2IT1, TXNRD3NT1	uc003ejc.3	Q6F5E7	OTTHUMG00000162732	ENST00000404489.2:c.171G>T	3.37:g.126291216C>A							p.G57G	NM_001039783	NP_001034872	Q6F5E7	TR3N_HUMAN			3	650	-			57						Silent	SNP	ENST00000404489.2	37	c.171G>T	CCDS33846.1																																																																																				0.547	TXNRD3NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370233.2	NM_001039783		22	90	1	0	0.00278032	0.00404879	22	90				
EEFSEC	60678	broad.mit.edu	37	3	128060074	128060074	+	Splice_Site	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:128060074A>T	ENST00000254730.6	+	5	840		c.e5-1		EEFSEC_ENST00000483569.1_Splice_Site|EEFSEC_ENST00000483457.1_Splice_Site	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific						selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ACTCCCCATCAGGTGGTGAAG	0.562																																						uc003eki.2		NA																	0				ovary(1)	1						c.e5-2		eukaryotic elongation factor,							69.0	65.0	67.0					3																	128060074		2203	4300	6503	SO:0001630	splice_region_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:128060074A>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.787-1A>T	3.37:g.128060074A>T						EEFSEC_uc003ekj.2_Splice_Site_p.V208_splice	p.V263_splice	NM_021937	NP_068756	P57772	SELB_HUMAN			5	825	+								Q96HZ6	Splice_Site	SNP	ENST00000254730.6	37	c.787_splice	CCDS33849.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732221	0.69189	.	.	ENSG00000132394	ENST00000254730;ENST00000483457	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2989	0.73931	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EEFSEC	129542764	1.000000	0.71417	0.991000	0.47740	0.811000	0.45836	9.329000	0.96413	2.006000	0.58801	0.482000	0.46254	.		0.562	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937	Intron	26	100	0	0	0	0	26	100				
RAB7A	7879	broad.mit.edu	37	3	128516832	128516832	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:128516832A>C	ENST00000265062.3	+	3	346	c.100A>C	c.(100-102)Agc>Cgc	p.S34R	RAB7A_ENST00000482525.1_Missense_Mutation_p.S34R|RAB7A_ENST00000485280.1_Missense_Mutation_p.S34R	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	34					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TAAGAAATTCAGCAATCAGTA	0.433																																						uc003eks.1		NA																	0					0						c.(100-102)AGC>CGC		RAB7, member RAS oncogene family							153.0	134.0	140.0					3																	128516832		2203	4300	6503	SO:0001583	missense	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128516832A>C	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.100A>C	3.37:g.128516832A>C	ENSP00000265062:p.Ser34Arg					RAB7A_uc010hsv.1_Missense_Mutation_p.S34R|RAB7A_uc003ekt.2_Missense_Mutation_p.S10R	p.S34R	NM_004637	NP_004628	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	3	332	+			34					A8K3V6|Q9NWJ0|Q9UPB0	Missense_Mutation	SNP	ENST00000265062.3	37	c.100A>C	CCDS3052.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.506657	0.85282	.	.	ENSG00000075785	ENST00000265062;ENST00000482525;ENST00000464496;ENST00000490093;ENST00000493186;ENST00000483906;ENST00000485280	T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.69	4.52	0.55395	Small GTP-binding protein domain (1);	.	.	.	.	T	0.72020	0.3409	L	0.41236	1.265	0.58432	D	0.999998	P;P	0.42827	0.454;0.791	B;B	0.42361	0.385;0.27	T	0.73369	-0.4004	9	0.72032	D	0.01	-26.8617	12.1432	0.54008	0.8715:0.0:0.0:0.1285	.	34;34	C9J8S3;P51149	.;RAB7A_HUMAN	R	34	ENSP00000265062:S34R;ENSP00000417668:S34R;ENSP00000417978:S34R;ENSP00000418955:S34R;ENSP00000417189:S34R;ENSP00000417155:S34R;ENSP00000418283:S34R	ENSP00000265062:S34R	S	+	1	0	RAB7A	129999522	1.000000	0.71417	0.984000	0.44739	0.984000	0.73092	8.523000	0.90576	0.975000	0.38392	0.533000	0.62120	AGC		0.433	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1			30	109	0	0	0	0	30	109				
GP9	2815	broad.mit.edu	37	3	128780893	128780893	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:128780893C>G	ENST00000307395.4	+	3	533	c.311C>G	c.(310-312)aCg>aGg	p.T104R		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	104	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	GAGGACCGCACGCCCGAGGCC	0.692																																						uc003elm.2		NA																	0					0						c.(310-312)ACG>AGG		glycoprotein IX (platelet) precursor	Quinine(DB00468)						27.0	26.0	26.0					3																	128780893		2203	4300	6503	SO:0001583	missense	2815				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding	g.chr3:128780893C>G		CCDS3055.1	3q21.3	2014-09-17				ENSG00000169704		"""CD molecules"""	4444	protein-coding gene	gene with protein product		173515				2253772	Standard	XM_005247374		Approved	CD42a, GPIX	uc003elm.2	P14770		ENST00000307395.4:c.311C>G	3.37:g.128780893C>G	ENSP00000303942:p.Thr104Arg						p.T104R	NM_000174	NP_000165	P14770	GPIX_HUMAN			3	498	+			104			LRRCT.|Extracellular (Potential).		Q14445|Q8N1D1|Q92525	Missense_Mutation	SNP	ENST00000307395.4	37	c.311C>G	CCDS3055.1	.	.	.	.	.	.	.	.	.	.	C	6.918	0.539097	0.13250	.	.	ENSG00000169704	ENST00000307395	D	0.89810	-2.57	4.26	-3.45	0.04781	Cysteine-rich flanking region, C-terminal (1);	1.098700	0.06981	U	0.819832	T	0.73297	0.3569	N	0.13140	0.3	0.09310	N	1	B	0.30361	0.277	B	0.19148	0.024	T	0.59016	-0.7533	10	0.35671	T	0.21	-1.1195	3.7301	0.08489	0.3849:0.2199:0.0:0.3951	.	104	P14770	GPIX_HUMAN	R	104	ENSP00000303942:T104R	ENSP00000303942:T104R	T	+	2	0	GP9	130263583	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	-0.651000	0.05372	-1.173000	0.02758	-0.521000	0.04368	ACG		0.692	GP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358428.1			15	64	0	0	0	0	15	64				
PIK3R4	30849	broad.mit.edu	37	3	130442379	130442379	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:130442379C>G	ENST00000356763.3	-	7	2417	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	620					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GACCTTGTTGCAGCAGAGGCT	0.408																																						uc003enj.2		NA																	0				ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12						c.(1858-1860)CTG>CTC		phosphoinositide-3-kinase, regulatory subunit 4							85.0	79.0	81.0					3																	130442379		2203	4300	6503	SO:0001819	synonymous_variant	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130442379C>G	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1860G>C	3.37:g.130442379C>G							p.L620L	NM_014602	NP_055417	Q99570	PI3R4_HUMAN			7	2441	-			620					Q2TBF4	Silent	SNP	ENST00000356763.3	37	c.1860G>C	CCDS3067.1																																																																																				0.408	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	NM_014602		29	36	0	0	0	0	29	36				
ATP2C1	27032	broad.mit.edu	37	3	130683850	130683850	+	Silent	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:130683850T>A	ENST00000510168.1	+	14	1633	c.1083T>A	c.(1081-1083)acT>acA	p.T361T	ATP2C1_ENST00000422190.2_Silent_p.T361T|ATP2C1_ENST00000328560.8_Silent_p.T361T|ATP2C1_ENST00000508532.1_Silent_p.T361T|ATP2C1_ENST00000505330.1_Silent_p.T345T|ATP2C1_ENST00000428331.2_Silent_p.T361T|ATP2C1_ENST00000504948.1_Silent_p.T345T|ATP2C1_ENST00000533801.2_Silent_p.T356T|ATP2C1_ENST00000393221.4_Silent_p.T395T|ATP2C1_ENST00000507488.2_Silent_p.T345T|ATP2C1_ENST00000513801.1_Silent_p.T345T|ATP2C1_ENST00000359644.3_Silent_p.T361T|ATP2C1_ENST00000504381.1_Silent_p.T306T			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	361					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATGAAATGACTGTTACTCACA	0.333									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	uc003enl.2		NA																	0				skin(1)	1						c.(1081-1083)ACT>ACA		calcium-transporting ATPase 2C1 isoform 1a	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						156.0	142.0	146.0					3																	130683850		2203	4299	6502	SO:0001819	synonymous_variant	27032	Hailey-Hailey_disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130683850T>A	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1083T>A	3.37:g.130683850T>A						ATP2C1_uc011blg.1_Silent_p.T395T|ATP2C1_uc011blh.1_Silent_p.T356T|ATP2C1_uc011bli.1_Silent_p.T395T|ATP2C1_uc003enk.2_Silent_p.T345T|ATP2C1_uc003enm.2_Silent_p.T361T|ATP2C1_uc003enn.2_Silent_p.T345T|ATP2C1_uc003eno.2_Silent_p.T361T|ATP2C1_uc003enp.2_Silent_p.T361T|ATP2C1_uc003enq.2_Silent_p.T361T|ATP2C1_uc003enr.2_Silent_p.T361T|ATP2C1_uc003ens.2_Silent_p.T361T|ATP2C1_uc003ent.2_Silent_p.T361T|ATP2C1_uc003enu.2_Silent_p.T39T	p.T361T	NM_014382	NP_055197	P98194	AT2C1_HUMAN			14	1305	+			361			Cytoplasmic (By similarity).		B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.1083T>A	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	T	10.50	1.368951	0.24771	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.53	-0.149	0.13420	.	.	.	.	.	T	0.41696	0.1170	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24905	-1.0147	4	.	.	.	.	1.6438	0.02758	0.2518:0.1305:0.1069:0.5108	.	.	.	.	Q	315	.	.	L	+	2	0	ATP2C1	132166540	0.813000	0.29090	0.999000	0.59377	0.997000	0.91878	-0.210000	0.09345	0.033000	0.15463	0.459000	0.35465	CTG		0.333	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		55	43	0	0	0	0	55	43				
CPNE4	131034	broad.mit.edu	37	3	131624228	131624228	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:131624228G>T	ENST00000512055.1	-	6	2186	c.60C>A	c.(58-60)agC>agA	p.S20R	CPNE4_ENST00000512332.1_Missense_Mutation_p.S38R|CPNE4_ENST00000511604.1_Missense_Mutation_p.S20R|CPNE4_ENST00000502818.1_Missense_Mutation_p.S38R|CPNE4_ENST00000429747.1_Missense_Mutation_p.S20R			Q96A23	CPNE4_HUMAN	copine IV	20						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCAGGCAGGGGCTGTTAAAGA	0.458																																						uc003eok.2		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(58-60)AGC>AGA		copine IV							70.0	67.0	68.0					3																	131624228		2203	4300	6503	SO:0001583	missense	131034							g.chr3:131624228G>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.60C>A	3.37:g.131624228G>T	ENSP00000421705:p.Ser20Arg					CPNE4_uc011blq.1_Missense_Mutation_p.S38R|CPNE4_uc003eol.2_Missense_Mutation_p.S38R|CPNE4_uc003eom.2_Missense_Mutation_p.S20R	p.S20R	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			2	495	-			20					D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	c.60C>A	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919808	0.52653	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.56	3.52	0.40303	C2 calcium/lipid-binding domain, CaLB (1);	0.091222	0.64402	D	0.000001	T	0.34978	0.0916	L	0.27053	0.805	0.42298	D	0.992164	P;P	0.42692	0.787;0.59	P;B	0.46585	0.521;0.238	T	0.20538	-1.0272	10	0.62326	D	0.03	-23.285	9.0019	0.36088	0.2729:0.0:0.7271:0.0	.	38;20	Q96A23-2;Q96A23	.;CPNE4_HUMAN	R	20;20;38;20;38;20;20;20	ENSP00000421705:S20R;ENSP00000411904:S20R;ENSP00000424853:S38R;ENSP00000423811:S20R;ENSP00000421646:S38R;ENSP00000425506:S20R;ENSP00000427561:S20R;ENSP00000421394:S20R	ENSP00000411904:S20R	S	-	3	2	CPNE4	133106918	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	1.930000	0.40124	1.347000	0.45714	0.655000	0.94253	AGC		0.458	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		18	57	1	0	1.68e-08	2.89e-08	18	57				
SLCO2A1	6578	broad.mit.edu	37	3	133672524	133672524	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:133672524T>A	ENST00000310926.4	-	5	980	c.707A>T	c.(706-708)tAt>tTt	p.Y236F	SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.Y160F	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	236					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GACCCTGCCATAGTCCACAAA	0.522																																						uc003eqa.3		NA																	0				central_nervous_system(1)	1						c.(706-708)TAT>TTT		solute carrier organic anion transporter family,							90.0	85.0	87.0					3																	133672524		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133672524T>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.707A>T	3.37:g.133672524T>A	ENSP00000311291:p.Tyr236Phe					SLCO2A1_uc003eqb.3_Missense_Mutation_p.Y160F|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.Y68F	p.Y236F	NM_005630	NP_005621	Q92959	SO2A1_HUMAN			5	981	-			236			Helical; Name=5; (Potential).		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.707A>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250551	0.39797	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.57107	0.42;0.42	5.4	4.17	0.49024	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.267444	0.35936	N	0.002884	T	0.32645	0.0836	N	0.13098	0.295	0.32749	N	0.506707	B;B;B	0.20261	0.034;0.007;0.043	B;B;B	0.16289	0.015;0.007;0.015	T	0.39313	-0.9620	10	0.48119	T	0.1	.	8.5836	0.33644	0.3498:0.0:0.0:0.6502	.	236;160;236	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	F	236;160	ENSP00000311291:Y236F;ENSP00000418893:Y160F	ENSP00000311291:Y236F	Y	-	2	0	SLCO2A1	135155214	1.000000	0.71417	0.993000	0.49108	0.506000	0.33950	4.664000	0.61540	2.044000	0.60594	0.459000	0.35465	TAT		0.522	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		64	58	0	0	0	0	64	58				
ESYT3	83850	broad.mit.edu	37	3	138174129	138174129	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:138174129C>A	ENST00000389567.4	+	3	649	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	ESYT3_ENST00000289135.4_Missense_Mutation_p.L155M	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	155	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)	p.L155L(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GAGCATCCACCTGAGGACCTT	0.522																																						uc003esk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(463-465)CTG>ATG		family with sequence similarity 62 (C2 domain							135.0	133.0	133.0					3																	138174129		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138174129C>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.463C>A	3.37:g.138174129C>A	ENSP00000374218:p.Leu155Met					ESYT3_uc010hug.2_RNA	p.L155M	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN			3	689	+			155					A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.463C>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232107	0.79688	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	D;D	0.91894	-2.93;-2.93	5.81	4.93	0.64822	.	0.072500	0.56097	D	0.000021	D	0.95680	0.8595	M	0.78916	2.43	0.45035	D	0.998057	D	0.89917	1.0	D	0.87578	0.998	D	0.95558	0.8627	10	0.51188	T	0.08	-18.3208	14.6497	0.68786	0.0:0.8535:0.1465:0.0	.	155	A0FGR9	ESYT3_HUMAN	M	155	ENSP00000374218:L155M;ENSP00000289135:L155M	ENSP00000289135:L155M	L	+	1	2	ESYT3	139656819	0.997000	0.39634	0.983000	0.44433	0.974000	0.67602	2.939000	0.48995	1.446000	0.47643	0.462000	0.41574	CTG		0.522	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		19	105	1	0	1.16e-05	1.85e-05	19	105				
ZBTB38	253461	broad.mit.edu	37	3	141163889	141163889	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:141163889A>T	ENST00000514251.1	+	4	2938	c.2659A>T	c.(2659-2661)Agc>Tgc	p.S887C	ZBTB38_ENST00000321464.5_Missense_Mutation_p.S888C|ZBTB38_ENST00000441582.2_Missense_Mutation_p.S887C					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CAGTGGAGACAGCCCACTCGG	0.507																																						uc003etw.2		NA																	0				ovary(3)	3						c.(2659-2661)AGC>TGC		zinc finger and BTB domain containing 38							54.0	56.0	55.0					3																	141163889		1970	4144	6114	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141163889A>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.2659A>T	3.37:g.141163889A>T	ENSP00000426387:p.Ser887Cys					ZBTB38_uc010hun.2_Missense_Mutation_p.S884C|ZBTB38_uc010huo.2_Missense_Mutation_p.S887C|ZBTB38_uc003ety.2_Missense_Mutation_p.S887C|ZBTB38_uc010hup.2_Missense_Mutation_p.S888C	p.S887C	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	3641	+			887						Missense_Mutation	SNP	ENST00000514251.1	37	c.2659A>T	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.789930	0.50102	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.11063	2.81;2.81;2.81	5.54	4.39	0.52855	.	0.230523	0.44688	D	0.000423	T	0.15998	0.0385	M	0.62723	1.935	0.35645	D	0.811321	P;P	0.51791	0.948;0.948	P;P	0.46362	0.514;0.514	T	0.17561	-1.0365	9	.	.	.	-9.2661	11.2223	0.48862	0.9283:0.0:0.0717:0.0	.	888;887	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	C	887;887;888	ENSP00000426387:S887C;ENSP00000406955:S887C;ENSP00000372635:S888C	.	S	+	1	0	ZBTB38	142646579	1.000000	0.71417	0.998000	0.56505	0.626000	0.37791	5.570000	0.67398	0.943000	0.37553	0.528000	0.53228	AGC		0.507	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			19	65	0	0	0	0	19	65				
XRN1	54464	broad.mit.edu	37	3	142030457	142030457	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:142030457G>C	ENST00000264951.4	-	42	5134	c.5017C>G	c.(5017-5019)Caa>Gaa	p.Q1673E	XRN1_ENST00000392981.2_Missense_Mutation_p.Q1661E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1673					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTATGGCCTTGAGAGGCAGTT	0.403																																						uc003eus.2		NA																	0				ovary(3)	3						c.(5017-5019)CAA>GAA		5'-3' exoribonuclease 1 isoform a							133.0	141.0	138.0					3																	142030457		2203	4300	6503	SO:0001583	missense	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142030457G>C	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.5017C>G	3.37:g.142030457G>C	ENSP00000264951:p.Gln1673Glu					XRN1_uc010huu.2_Missense_Mutation_p.Q1127E|XRN1_uc003eut.2_Missense_Mutation_p.Q1660E|XRN1_uc003euu.2_Missense_Mutation_p.Q1661E	p.Q1673E	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			42	5084	-			1673					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	c.5017C>G	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	G	5.196	0.221708	0.09863	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.29917	1.55;1.55	5.75	4.7	0.59300	.	0.326816	0.32401	N	0.006141	T	0.21550	0.0519	N	0.19112	0.55	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.15484	0.013;0.006	T	0.03306	-1.1050	10	0.49607	T	0.09	-1.2735	13.4082	0.60926	0.1284:0.0:0.8716:0.0	.	1661;1673	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	E	1673;1661	ENSP00000264951:Q1673E;ENSP00000376707:Q1661E	ENSP00000264951:Q1673E	Q	-	1	0	XRN1	143513147	1.000000	0.71417	0.999000	0.59377	0.311000	0.27955	2.556000	0.45862	2.716000	0.92895	0.655000	0.94253	CAA		0.403	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		30	170	0	0	0	0	30	170				
SLC9A9	285195	broad.mit.edu	37	3	143292939	143292939	+	Missense_Mutation	SNP	C	C	A	rs544613454		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:143292939C>A	ENST00000316549.6	-	8	1199	c.991G>T	c.(991-993)Ggc>Tgc	p.G331C		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	331					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G331S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTGTTAGGCCGGCAGCCTCG	0.537																																						uc003evn.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(2)|skin(1)	3						c.(991-993)GGC>TGC		solute carrier family 9 (sodium/hydrogen							50.0	49.0	49.0					3																	143292939		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143292939C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.991G>T	3.37:g.143292939C>A	ENSP00000320246:p.Gly331Cys						p.G331C	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			8	1173	-			331			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.991G>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044382	0.75732	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.26518	1.73	5.39	3.6	0.41247	Cation/H+ exchanger (1);	0.081780	0.51477	D	0.000088	T	0.55609	0.1931	M	0.90309	3.105	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.61922	-0.6963	10	0.66056	D	0.02	.	11.6467	0.51265	0.0:0.8562:0.0:0.1438	.	331	Q8IVB4	SL9A9_HUMAN	C	331;214	ENSP00000320246:G331C	ENSP00000320246:G331C	G	-	1	0	SLC9A9	144775629	0.990000	0.36364	0.925000	0.36789	0.961000	0.63080	2.902000	0.48703	0.651000	0.30788	0.563000	0.77884	GGC		0.537	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		9	66	1	0	0.000274275	0.000411185	9	66				
PLSCR4	57088	broad.mit.edu	37	3	145938675	145938675	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:145938675T>G	ENST00000354952.2	-	3	285	c.45A>C	c.(43-45)gaA>gaC	p.E15D	PLSCR4_ENST00000493382.1_Missense_Mutation_p.E15D|PLSCR4_ENST00000383083.2_Missense_Mutation_p.E15D|PLSCR4_ENST00000433593.2_5'UTR|PLSCR4_ENST00000446574.2_Missense_Mutation_p.E15D	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	15	Proline-rich domain (PRD). {ECO:0000250}.				cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128)			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						GATTTTCCATTTCACCTGCAG	0.393																																						uc010huy.2		NA																	0					0						c.(43-45)GAA>GAC		phospholipid scramblase 4 isoform a							118.0	106.0	110.0					3																	145938675		2203	4300	6503	SO:0001583	missense	57088				blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:145938675T>G	AF199023	CCDS3133.1, CCDS54651.1	3q24	2008-07-18			ENSG00000114698	ENSG00000114698			16497	protein-coding gene	gene with protein product		607612				10930526	Standard	NM_020353		Approved		uc003evt.4	Q9NRQ2	OTTHUMG00000159415	ENST00000354952.2:c.45A>C	3.37:g.145938675T>G	ENSP00000347038:p.Glu15Asp					PLSCR4_uc010huz.2_Missense_Mutation_p.E15D|PLSCR4_uc003evt.3_Missense_Mutation_p.E15D|PLSCR4_uc010hva.2_Missense_Mutation_p.E15D|PLSCR4_uc003evu.3_5'UTR	p.E15D	NM_001128305	NP_001121777	Q9NRQ2	PLS4_HUMAN			3	374	-			15			Cytoplasmic (By similarity).		A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505	Missense_Mutation	SNP	ENST00000354952.2	37	c.45A>C	CCDS3133.1	.	.	.	.	.	.	.	.	.	.	T	6.224	0.409501	0.11812	.	.	ENSG00000114698	ENST00000354952;ENST00000383083;ENST00000446574;ENST00000493382;ENST00000460350;ENST00000460885;ENST00000476202;ENST00000481701;ENST00000498625	T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	4.73	0.918	0.19386	.	0.212263	0.33438	N	0.004911	T	0.33760	0.0874	L	0.48362	1.52	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.12837	0.008;0.005	T	0.20739	-1.0266	10	0.48119	T	0.1	.	3.851	0.08955	0.0:0.1958:0.186:0.6182	.	15;15	E9PHR9;Q9NRQ2	.;PLS4_HUMAN	D	15	ENSP00000347038:E15D;ENSP00000372561:E15D;ENSP00000399315:E15D;ENSP00000419040:E15D;ENSP00000417896:E15D;ENSP00000420385:E15D;ENSP00000418173:E15D;ENSP00000418419:E15D;ENSP00000417248:E15D	ENSP00000347038:E15D	E	-	3	2	PLSCR4	147421365	0.017000	0.18338	0.003000	0.11579	0.102000	0.19082	0.106000	0.15354	0.065000	0.16485	0.519000	0.50382	GAA		0.393	PLSCR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355172.1	NM_020353		11	33	0	0	0	0	11	33				
CPA3	1359	broad.mit.edu	37	3	148596303	148596303	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:148596303C>A	ENST00000296046.3	+	4	397	c.345C>A	c.(343-345)agC>agA	p.S115R	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	115					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCAGGCACAGCTACGCAAAAT	0.313																																						uc003ewm.2		NA																	0				breast(1)|skin(1)	2						c.(343-345)AGC>AGA		carboxypeptidase A3 precursor							74.0	75.0	75.0					3																	148596303		2203	4299	6502	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148596303C>A		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.345C>A	3.37:g.148596303C>A	ENSP00000296046:p.Ser115Arg						p.S115R	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		4	397	+			115					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.345C>A	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.696888	0.30142	.	.	ENSG00000163751	ENST00000296046	T	0.29655	1.56	5.19	3.25	0.37280	.	0.191843	0.56097	D	0.000038	T	0.47728	0.1461	M	0.67397	2.05	0.38949	D	0.958313	D	0.89917	1.0	D	0.81914	0.995	T	0.47071	-0.9145	10	0.56958	D	0.05	.	6.9294	0.24434	0.0:0.6649:0.0:0.3351	.	115	P15088	CBPA3_HUMAN	R	115	ENSP00000296046:S115R	ENSP00000296046:S115R	S	+	3	2	CPA3	150078993	0.997000	0.39634	0.999000	0.59377	0.039000	0.13416	0.589000	0.23939	0.737000	0.32582	-0.157000	0.13467	AGC		0.313	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		67	39	1	0	3.05e-18	6.11e-18	67	39				
VEPH1	79674	broad.mit.edu	37	3	157146130	157146130	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:157146130G>C	ENST00000362010.2	-	5	984	c.677C>G	c.(676-678)gCa>gGa	p.A226G	VEPH1_ENST00000392833.2_Missense_Mutation_p.A226G|VEPH1_ENST00000543418.1_Missense_Mutation_p.A226G|VEPH1_ENST00000469007.1_5'UTR|VEPH1_ENST00000392832.2_Missense_Mutation_p.A226G	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	226						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TTTTTTCTTTGCTGCTACATG	0.438																																						uc003fbj.1		NA																	0				breast(3)|ovary(1)|lung(1)	5						c.(676-678)GCA>GGA		ventricular zone expressed PH domain homolog 1							173.0	159.0	163.0					3																	157146130		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157146130G>C	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.677C>G	3.37:g.157146130G>C	ENSP00000354919:p.Ala226Gly					VEPH1_uc003fbk.1_Missense_Mutation_p.A226G|VEPH1_uc010hvu.1_Missense_Mutation_p.A226G	p.A226G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		5	994	-			226					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.677C>G	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558010	0.86231	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000479987	T;T;T;T;T	0.59083	0.88;0.88;0.88;0.88;0.29	5.48	5.48	0.80851	.	0.051864	0.85682	D	0.000000	T	0.66548	0.2800	M	0.72118	2.19	0.80722	D	1	P;P	0.49559	0.925;0.877	P;B	0.47162	0.54;0.339	T	0.71728	-0.4505	10	0.72032	D	0.01	-1.6631	19.3485	0.94374	0.0:0.0:1.0:0.0	.	226;226	Q14D04-2;Q14D04	.;MELT_HUMAN	G	226;226;226;226;114	ENSP00000376578:A226G;ENSP00000354919:A226G;ENSP00000446258:A226G;ENSP00000376577:A226G;ENSP00000418963:A114G	ENSP00000354919:A226G	A	-	2	0	VEPH1	158628824	0.997000	0.39634	0.965000	0.40720	0.764000	0.43329	3.375000	0.52410	2.552000	0.86080	0.650000	0.86243	GCA		0.438	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		14	89	0	0	0	0	14	89				
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159583964	159583964	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:159583964G>A	ENST00000460298.1	+	3	893	c.652G>A	c.(652-654)Gag>Aag	p.E218K	IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.E245K|IQCJ-SCHIP1_ENST00000337808.6_Missense_Mutation_p.E258K|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.E26K|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E307K|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.E334K|SCHIP1_ENST00000445224.2_Missense_Mutation_p.E15K|SCHIP1_ENST00000482804.1_Missense_Mutation_p.E31K					IQCJ-SCHIP1 readthrough											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						ACAGAAAAATGAGAGAGAGTC	0.403																																						uc003fcs.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(772-774)GAG>AAG		schwannomin interacting protein 1							96.0	104.0	101.0					3																	159583964		2203	4300	6503	SO:0001583	missense	29970					cytoplasm	identical protein binding|protein binding	g.chr3:159583964G>A		CCDS56289.1, CCDS56291.1	3q25.33	2011-03-24			ENSG00000250588	ENSG00000250588			38842	other	readthrough							Standard	NM_001197113		Approved		uc003fcq.2		OTTHUMG00000162426	ENST00000460298.1:c.652G>A	3.37:g.159583964G>A	ENSP00000417305:p.Glu218Lys					SCHIP1_uc003fcq.1_Missense_Mutation_p.E334K|SCHIP1_uc003fcr.1_Missense_Mutation_p.E247K|SCHIP1_uc003fct.1_Missense_Mutation_p.E245K|SCHIP1_uc010hvz.1_Missense_Mutation_p.E218K|SCHIP1_uc003fcu.1_Missense_Mutation_p.E15K|SCHIP1_uc003fcv.1_Missense_Mutation_p.E31K	p.E258K	NM_014575	NP_055390	Q9P0W5	SCHI1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)		3	838	+			258						Missense_Mutation	SNP	ENST00000460298.1	37	c.772G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.136271	0.94517	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000151967;ENSG00000151967	ENST00000476809;ENST00000485419;ENST00000337808;ENST00000412423;ENST00000527095;ENST00000460298;ENST00000473061;ENST00000445224;ENST00000482804	T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	L	0.44542	1.39	0.58432	D	0.999991	D;D;D;D;D;D	0.76494	0.999;0.979;0.974;0.996;0.997;0.996	D;D;D;D;D;D	0.83275	0.996;0.982;0.953;0.99;0.994;0.99	T	0.66858	-0.5817	10	0.52906	T	0.07	.	18.1916	0.89808	0.0:0.0:1.0:0.0	.	218;31;15;245;258;334	C9J366;C9JWG6;Q9P0W5-4;Q9P0W5-2;Q9P0W5;Q9P0W5-5	.;.;.;.;SCHI1_HUMAN;.	K	307;334;258;245;26;218;17;15;31	ENSP00000418692:E307K;ENSP00000420182:E334K;ENSP00000337239:E258K;ENSP00000400942:E245K;ENSP00000436076:E26K;ENSP00000417305:E218K;ENSP00000404860:E15K;ENSP00000419230:E31K	ENSP00000337239:E258K	E	+	1	0	SCHIP1;IQCJ-SCHIP1	161066658	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.615000	0.90920	2.577000	0.86979	0.585000	0.79938	GAG		0.403	IQCJ-SCHIP1-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000352558.2	NM_001197113		27	141	0	0	0	0	27	141				
SI	6476	broad.mit.edu	37	3	164741509	164741509	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:164741509T>A	ENST00000264382.3	-	26	3010	c.2948A>T	c.(2947-2949)tAt>tTt	p.Y983F		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	983	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTTGACTGAATAAGAGTTATC	0.403										HNSCC(35;0.089)																												uc003fei.2		NA																	0				ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(2947-2949)TAT>TTT		sucrase-isomaltase	Acarbose(DB00284)						114.0	109.0	110.0					3																	164741509		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164741509T>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2948A>T	3.37:g.164741509T>A	ENSP00000264382:p.Tyr983Phe	HNSCC(35;0.089)					p.Y983F	NM_001041	NP_001032	P14410	SUIS_HUMAN			26	3010	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	983			Lumenal.|Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.2948A>T	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.050630	0.75960	.	.	ENSG00000090402	ENST00000264382	T	0.16597	2.33	5.23	5.23	0.72850	Glycoside hydrolase-type carbohydrate-binding (1);P-type trefoil (1);	0.279785	0.31872	N	0.006924	T	0.56963	0.2021	H	0.97186	3.955	0.41863	D	0.990237	D	0.89917	1.0	D	0.97110	1.0	T	0.73254	-0.4041	10	0.87932	D	0	.	15.2469	0.73511	0.0:0.0:0.0:1.0	.	983	P14410	SUIS_HUMAN	F	983	ENSP00000264382:Y983F	ENSP00000264382:Y983F	Y	-	2	0	SI	166224203	0.997000	0.39634	0.109000	0.21407	0.039000	0.13416	3.925000	0.56484	2.324000	0.78689	0.533000	0.62120	TAT		0.403	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		10	47	0	0	0	0	10	47				
MECOM	2122	broad.mit.edu	37	3	168806817	168806817	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:168806817G>T	ENST00000464456.1	-	14	4165	c.2965C>A	c.(2965-2967)Cag>Aag	p.Q989K	MECOM_ENST00000392736.3_Missense_Mutation_p.Q998K|MECOM_ENST00000460814.1_Missense_Mutation_p.Q989K|MECOM_ENST00000472280.1_Missense_Mutation_p.Q999K|MECOM_ENST00000433243.2_Missense_Mutation_p.Q999K|MECOM_ENST00000264674.3_Missense_Mutation_p.Q1063K|MECOM_ENST00000494292.1_Missense_Mutation_p.Q1177K|MECOM_ENST00000468789.1_Missense_Mutation_p.Q998K	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTAACGGCTGCTTAAGTTCC	0.393																																						uc003ffi.3		NA																	0				lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(2992-2994)CAG>AAG		MDS1 and EVI1 complex locus isoform b							127.0	122.0	123.0					3																	168806817		2203	4300	6503	SO:0001583	missense	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168806817G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2965C>A	3.37:g.168806817G>T	ENSP00000419770:p.Gln989Lys					MECOM_uc010hwk.1_Missense_Mutation_p.Q1012K|MECOM_uc003ffj.3_Missense_Mutation_p.Q1063K|MECOM_uc011bpi.1_Missense_Mutation_p.Q990K|MECOM_uc003ffn.3_Missense_Mutation_p.Q998K|MECOM_uc003ffk.2_Missense_Mutation_p.Q989K|MECOM_uc003ffl.2_Missense_Mutation_p.Q1149K|MECOM_uc011bpj.1_Missense_Mutation_p.Q1186K|MECOM_uc011bpk.1_Missense_Mutation_p.Q988K	p.Q998K	NM_005241	NP_005232	Q03112	EVI1_HUMAN			15	3261	-			998					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2992C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679661	0.29783	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06449	3.35;3.34;3.3;3.44;3.3;3.34;3.3;3.44	5.63	5.63	0.86233	.	0.200417	0.35349	N	0.003280	T	0.08179	0.0204	L	0.48642	1.525	0.48571	D	0.999674	P;B;P;B;B	0.41848	0.763;0.287;0.651;0.417;0.361	B;B;B;B;B	0.36608	0.229;0.053;0.115;0.116;0.036	T	0.03807	-1.1002	10	0.66056	D	0.02	-15.1244	15.6408	0.77001	0.0:0.0:0.8622:0.1378	.	1186;990;1177;1063;998	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	K	1063;998;989;999;1177;998;989;999	ENSP00000264674:Q1063K;ENSP00000376493:Q998K;ENSP00000419770:Q989K;ENSP00000420048:Q999K;ENSP00000417899:Q1177K;ENSP00000419995:Q998K;ENSP00000420466:Q989K;ENSP00000394302:Q999K	ENSP00000264674:Q1063K	Q	-	1	0	MECOM	170289511	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	6.716000	0.74702	2.826000	0.97356	0.655000	0.94253	CAG		0.393	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		21	82	1	0	4.4e-07	7.32e-07	21	82				
TNIK	23043	broad.mit.edu	37	3	170781743	170781743	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:170781743G>T	ENST00000436636.2	-	33	4354	c.4010C>A	c.(4009-4011)gCa>gAa	p.A1337E	TNIK_ENST00000488470.1_Missense_Mutation_p.A1282E|TNIK_ENST00000538048.1_Missense_Mutation_p.A1289E|TNIK_ENST00000341852.6_Missense_Mutation_p.A1253E|TNIK_ENST00000464785.1_5'UTR|TNIK_ENST00000460047.1_Missense_Mutation_p.A1274E|TNIK_ENST00000369326.5_Missense_Mutation_p.A1315E|TNIK_ENST00000475336.1_Missense_Mutation_p.A1245E|TNIK_ENST00000284483.8_Missense_Mutation_p.A1329E|TNIK_ENST00000470834.1_Missense_Mutation_p.A1300E|TNIK_ENST00000357327.5_Missense_Mutation_p.A1308E	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1337					actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCGCACGGATGCAAAAAATAC	0.403																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(4009-4011)GCA>GAA		TRAF2 and NCK interacting kinase isoform 1							96.0	91.0	93.0					3																	170781743		1855	4100	5955	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170781743G>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.4010C>A	3.37:g.170781743G>T	ENSP00000399511:p.Ala1337Glu					TNIK_uc003fhi.2_Missense_Mutation_p.A1282E|TNIK_uc003fhj.2_Missense_Mutation_p.A1308E|TNIK_uc003fhk.2_Missense_Mutation_p.A1329E|TNIK_uc003fhl.2_Missense_Mutation_p.A1253E|TNIK_uc003fhm.2_Missense_Mutation_p.A1274E|TNIK_uc003fhn.2_Missense_Mutation_p.A1300E|TNIK_uc003fho.2_Missense_Mutation_p.A1245E|TNIK_uc003fhg.2_Missense_Mutation_p.A515E	p.A1337E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		33	4355	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1337					A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.4010C>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034643	0.75617	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.80480	-1.35;-1.34;-1.37;-1.37;-1.35;-1.35;-1.36;-1.38;-1.38;-1.35	5.97	5.97	0.96955	Citron-like (1);	0.000000	0.85682	D	0.000000	D	0.89622	0.6768	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.996;1.0;0.998;0.996;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D;D	0.87578	0.991;0.987;0.994;0.991;0.998;0.991;0.994;0.99	D	0.89420	0.3709	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	1245;1300;1274;1253;1329;1308;1282;1337	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	E	1337;1315;1289;1253;1329;1245;1308;1274;1282;1300	ENSP00000399511:A1337E;ENSP00000358332:A1315E;ENSP00000443278:A1289E;ENSP00000345352:A1253E;ENSP00000284483:A1329E;ENSP00000418156:A1245E;ENSP00000349880:A1308E;ENSP00000418916:A1274E;ENSP00000418378:A1282E;ENSP00000419990:A1300E	ENSP00000284483:A1329E	A	-	2	0	TNIK	172264437	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	GCA		0.403	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		52	40	1	0	6.82e-30	1.43e-29	52	40				
TNIK	23043	broad.mit.edu	37	3	170805171	170805171	+	Missense_Mutation	SNP	C	C	T	rs376646276	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:170805171C>T	ENST00000436636.2	-	24	3190	c.2846G>A	c.(2845-2847)cGc>cAc	p.R949H	TNIK_ENST00000488470.1_Missense_Mutation_p.R894H|TNIK_ENST00000538048.1_Missense_Mutation_p.R901H|TNIK_ENST00000341852.6_Missense_Mutation_p.R865H|TNIK_ENST00000460047.1_Missense_Mutation_p.R886H|TNIK_ENST00000369326.5_Missense_Mutation_p.R927H|TNIK_ENST00000475336.1_Missense_Mutation_p.R857H|TNIK_ENST00000284483.8_Missense_Mutation_p.R941H|TNIK_ENST00000470834.1_Missense_Mutation_p.R912H|TNIK_ENST00000357327.5_Missense_Mutation_p.R920H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	949	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GGTTGAGACGCGCCCCAGTCC	0.582													C|||	2	0.000399361	0.0008	0.0	5008	,	,		18809	0.0		0.001	False		,,,				2504	0.0					uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(2845-2847)CGC>CAC		TRAF2 and NCK interacting kinase isoform 1		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4016		0,2,2007	76.0	79.0	78.0		2822,2759,2735,2681,2657,2594,2570,2846	5.9	0.8	3		78	2,8358		0,2,4178	no	missense,missense,missense,missense,missense,missense,missense,missense	TNIK	NM_001161560.1,NM_001161561.1,NM_001161562.1,NM_001161563.1,NM_001161564.1,NM_001161565.1,NM_001161566.1,NM_015028.2	29,29,29,29,29,29,29,29	0,4,6185	TT,TC,CC		0.0239,0.0498,0.0323	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	941/1353,920/1332,912/1324,894/1306,886/1298,865/1277,857/1269,949/1361	170805171	4,12374	2009	4180	6189	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170805171C>T	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2846G>A	3.37:g.170805171C>T	ENSP00000399511:p.Arg949His					TNIK_uc003fhi.2_Missense_Mutation_p.R894H|TNIK_uc003fhj.2_Missense_Mutation_p.R920H|TNIK_uc003fhk.2_Missense_Mutation_p.R941H|TNIK_uc003fhl.2_Missense_Mutation_p.R865H|TNIK_uc003fhm.2_Missense_Mutation_p.R886H|TNIK_uc003fhn.2_Missense_Mutation_p.R912H|TNIK_uc003fho.2_Missense_Mutation_p.R857H|TNIK_uc003fhg.2_Missense_Mutation_p.R127H	p.R949H	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		24	3191	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		949			Mediates interaction with NEDD4.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.2846G>A	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042874	0.75732	4.98E-4	2.39E-4	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.72942	-0.7;-0.69;-0.69;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.93	5.93	0.95920	.	0.147460	0.46145	D	0.000306	T	0.68723	0.3032	N	0.08118	0	0.53688	D	0.999975	D;D;D;D;D;D;D;B	0.71674	0.986;0.998;0.986;0.986;0.998;0.998;0.986;0.345	P;P;P;P;D;P;P;B	0.64042	0.674;0.885;0.674;0.674;0.921;0.885;0.674;0.056	T	0.65467	-0.6161	10	0.14656	T	0.56	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	857;912;886;865;941;920;894;949	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	H	949;927;901;865;941;857;920;886;894;912	ENSP00000399511:R949H;ENSP00000358332:R927H;ENSP00000443278:R901H;ENSP00000345352:R865H;ENSP00000284483:R941H;ENSP00000418156:R857H;ENSP00000349880:R920H;ENSP00000418916:R886H;ENSP00000418378:R894H;ENSP00000419990:R912H	ENSP00000284483:R941H	R	-	2	0	TNIK	172287865	1.000000	0.71417	0.844000	0.33320	0.726000	0.41606	4.082000	0.57635	2.826000	0.97356	0.655000	0.94253	CGC		0.582	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		26	146	0	0	0	0	26	146				
FNDC3B	64778	broad.mit.edu	37	3	172059019	172059019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:172059019C>T	ENST00000336824.4	+	17	2068	c.1969C>T	c.(1969-1971)Cag>Tag	p.Q657*	FNDC3B_ENST00000415807.2_Nonsense_Mutation_p.Q657*|FNDC3B_ENST00000416957.1_Nonsense_Mutation_p.Q657*	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	657	Fibronectin type-III 4. {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)		CGGACACAGCCAGGTTGGTTT	0.443																																						uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(1969-1971)CAG>TAG		fibronectin type III domain containing 3B							172.0	157.0	162.0					3																	172059019		2203	4300	6503	SO:0001587	stop_gained	64778					endoplasmic reticulum|integral to membrane		g.chr3:172059019C>T	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.1969C>T	3.37:g.172059019C>T	ENSP00000338523:p.Gln657*					FNDC3B_uc003fhz.3_Nonsense_Mutation_p.Q657*	p.Q657*	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)	17	2141	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		657			Fibronectin type-III 4.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Nonsense_Mutation	SNP	ENST00000336824.4	37	c.1969C>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	C	36	5.625679	0.96671	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	.	.	.	5.58	4.7	0.59300	.	0.155567	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-9.234	16.8593	0.86014	0.0:0.8715:0.1285:0.0	.	.	.	.	X	657	.	ENSP00000338523:Q657X	Q	+	1	0	FNDC3B	173541713	1.000000	0.71417	0.990000	0.47175	0.137000	0.21094	5.587000	0.67510	1.468000	0.48064	0.655000	0.94253	CAG		0.443	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		160	139	0	0	0	0	160	139				
NAALADL2	254827	broad.mit.edu	37	3	175184791	175184791	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:175184791A>G	ENST00000454872.1	+	8	1480	c.1352A>G	c.(1351-1353)cAt>cGt	p.H451R	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	451						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GTTGGCAGCCATCATCACACT	0.363																																						uc003fit.2		NA																	0				pancreas(1)	1						c.(1351-1353)CAT>CGT		N-acetylated alpha-linked acidic dipeptidase 2							210.0	203.0	205.0					3																	175184791		1967	4160	6127	SO:0001583	missense	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175184791A>G		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1352A>G	3.37:g.175184791A>G	ENSP00000404705:p.His451Arg					NAALADL2_uc003fiu.1_Missense_Mutation_p.H444R|NAALADL2_uc010hwy.1_Missense_Mutation_p.H225R|NAALADL2_uc010hwz.1_Missense_Mutation_p.H45R	p.H451R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	8	1439	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	451			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	ENST00000454872.1	37	c.1352A>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	A	11.73	1.724852	0.30593	.	.	ENSG00000177694	ENST00000454872	T	0.70516	-0.49	5.58	3.08	0.35506	Peptidase M28 (1);	.	.	.	.	T	0.69468	0.3114	M	0.82132	2.575	0.24000	N	0.99621	B	0.09022	0.002	B	0.12156	0.007	T	0.63985	-0.6513	9	0.66056	D	0.02	-1.4278	7.0135	0.24875	0.6533:0.2737:0.073:0.0	.	451	Q58DX5	NADL2_HUMAN	R	451	ENSP00000404705:H451R	ENSP00000404705:H451R	H	+	2	0	NAALADL2	176667485	0.867000	0.29959	0.941000	0.38009	0.872000	0.50106	1.564000	0.36375	0.970000	0.38263	0.477000	0.44152	CAT		0.363	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		66	310	0	0	0	0	66	310				
USP13	8975	broad.mit.edu	37	3	179418886	179418886	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:179418886C>A	ENST00000263966.3	+	4	917	c.446C>A	c.(445-447)gCa>gAa	p.A149E	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.A84E	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	149					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TATGAAATAGCACTACCAAAT	0.443																																						uc003fkh.2		NA																	0				ovary(1)	1						c.(445-447)GCA>GAA		ubiquitin thiolesterase 13							117.0	106.0	109.0					3																	179418886		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179418886C>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.446C>A	3.37:g.179418886C>A	ENSP00000263966:p.Ala149Glu					USP13_uc003fkf.2_Missense_Mutation_p.A149E	p.A149E	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		4	527	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		149					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.446C>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641775	0.47153	.	.	ENSG00000058056	ENST00000263966;ENST00000496897	T;T	0.13420	2.59;2.59	5.49	4.62	0.57501	.	0.181068	0.49916	D	0.000122	T	0.08133	0.0203	N	0.17474	0.49	0.46849	D	0.999227	P;B	0.34892	0.474;0.004	B;B	0.32677	0.15;0.003	T	0.19224	-1.0312	10	0.09338	T	0.73	-8.4639	14.0205	0.64550	0.0:0.9275:0.0:0.0725	.	149;149	Q92995;A8K2S3	UBP13_HUMAN;.	E	149;84	ENSP00000263966:A149E;ENSP00000417146:A84E	ENSP00000263966:A149E	A	+	2	0	USP13	180901580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.739000	0.68622	1.322000	0.45245	0.557000	0.71058	GCA		0.443	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			41	56	1	0	4.14e-20	8.4e-20	41	56				
LAMP3	27074	broad.mit.edu	37	3	182841971	182841971	+	Silent	SNP	C	C	A	rs371108228		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:182841971C>A	ENST00000265598.3	-	6	1404	c.1149G>T	c.(1147-1149)gtG>gtT	p.V383V	LAMP3_ENST00000466939.1_Silent_p.V359V	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	383					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCACAGGAAGCACAATTGTGT	0.463																																						uc003flh.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1147-1149)GTG>GTT		lysosomal-associated membrane protein 3							133.0	120.0	125.0					3																	182841971		2203	4300	6503	SO:0001819	synonymous_variant	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182841971C>A	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1149G>T	3.37:g.182841971C>A							p.V383V	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		6	1373	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		383			Helical; (Potential).		D3DNS4|O94781|Q8NEC8	Silent	SNP	ENST00000265598.3	37	c.1149G>T	CCDS3242.1																																																																																				0.463	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			25	100	1	0	1.66e-10	2.98e-10	25	100				
MCF2L2	23101	broad.mit.edu	37	3	182924003	182924003	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:182924003C>A	ENST00000328913.3	-	24	3010		c.e24-1		MCF2L2_ENST00000468976.1_Splice_Site|MCF2L2_ENST00000473233.1_Splice_Site	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2								Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTGTCATCAGCTATTATAAAG	0.408																																						uc003fli.1		NA																	0				ovary(2)|large_intestine(2)|breast(1)	5						c.e24-1		Rho family guanine-nucleotide exchange factor							108.0	100.0	103.0					3																	182924003		2203	4300	6503	SO:0001630	splice_region_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182924003C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2713-1G>T	3.37:g.182924003C>A							p.L905_splice	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		24	2803	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)							O94942|Q6P2B8|Q6ZVJ5|Q8N318	Splice_Site	SNP	ENST00000328913.3	37	c.2713_splice	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313131	0.23908	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	.	.	.	4.28	4.28	0.50868	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4008	0.55412	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCF2L2	184406697	0.961000	0.32948	0.072000	0.20136	0.066000	0.16364	3.366000	0.52343	2.377000	0.81083	0.563000	0.77884	.		0.408	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Intron	25	133	1	0	4.27e-12	7.84e-12	25	133				
YEATS2	55689	broad.mit.edu	37	3	183508669	183508669	+	Missense_Mutation	SNP	G	G	A	rs188928313	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:183508669G>A	ENST00000305135.5	+	21	3193	c.2998G>A	c.(2998-3000)Gcc>Acc	p.A1000T		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1000					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTGAGCCAGGCCACCGTGGG	0.597													G|||	6	0.00119808	0.0	0.0	5008	,	,		16522	0.0		0.006	False		,,,				2504	0.0					uc003fly.2		NA																	0				ovary(3)|large_intestine(1)	4						c.(2998-3000)GCC>ACC		YEATS domain containing 2		G	THR/ALA	8,4136		0,8,2064	94.0	105.0	101.0		2998	1.8	0.7	3		101	58,8364		0,58,4153	yes	missense	YEATS2	NM_018023.4	58	0,66,6217	AA,AG,GG		0.6887,0.1931,0.5252	benign	1000/1423	183508669	66,12500	2072	4211	6283	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183508669G>A	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2998G>A	3.37:g.183508669G>A	ENSP00000306983:p.Ala1000Thr					YEATS2_uc003flz.2_Missense_Mutation_p.A79T	p.A1000T	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3193	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		1000					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.2998G>A	CCDS43175.1	5|5	0.0022893772893772895|0.0022893772893772895	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	5|5	0.006596306068601583|0.006596306068601583	G|G	9.785|9.785	1.176326|1.176326	0.21704|0.21704	0.001931|0.001931	0.006887|0.006887	ENSG00000163872|ENSG00000163872	ENST00000421660;ENST00000305135|ENST00000432781	T|.	0.32515|.	1.45|.	5.58|5.58	1.79|1.79	0.24919|0.24919	.|.	0.552034|.	0.18192|.	N|.	0.148782|.	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.12182|0.12182	0.205|0.205	0.09310|0.09310	N|N	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.10450|.	0.005;0.001|.	T|T	0.23976|0.23976	-1.0173|-1.0173	10|5	0.23891|.	T|.	0.37|.	-3.1976|-3.1976	10.4936|10.4936	0.44764|0.44764	0.4018:0.0:0.5982:0.0|0.4018:0.0:0.5982:0.0	.|.	162;1000|.	Q8N5H6;Q9ULM3|.	.;YETS2_HUMAN|.	T|D	1000|185	ENSP00000306983:A1000T|.	ENSP00000306983:A1000T|.	A|G	+|+	1|2	0|0	YEATS2|YEATS2	184991363|184991363	0.125000|0.125000	0.22332|0.22332	0.740000|0.740000	0.30986|0.30986	0.673000|0.673000	0.39480|0.39480	0.243000|0.243000	0.18106|0.18106	-0.147000|-0.147000	0.11254|0.11254	-1.128000|-1.128000	0.01989|0.01989	GCC|GGC		0.597	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		32	140	0	0	0	0	32	140				
HTR3E	285242	broad.mit.edu	37	3	183823166	183823166	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:183823166C>A	ENST00000415389.2	+	6	1137	c.671C>A	c.(670-672)aCc>aAc	p.T224N	HTR3E_ENST00000335304.2_Missense_Mutation_p.T239N|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.T224N|HTR3E_ENST00000440596.2_Missense_Mutation_p.T250N|HTR3E_ENST00000425359.2_Missense_Mutation_p.T209N	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	224					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	AGCAAGGCCACCGCAAAGTTG	0.527																																					Melanoma(7;227 727 6634 44770)	uc010hxq.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(670-672)ACC>AAC		5-hydroxytryptamine receptor 3 subunit E							121.0	105.0	111.0					3																	183823166		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183823166C>A	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.671C>A	3.37:g.183823166C>A	ENSP00000401444:p.Thr224Asn					HTR3E_uc003fml.3_Missense_Mutation_p.T209N|HTR3E_uc003fmm.2_Missense_Mutation_p.T239N|HTR3E_uc010hxr.2_Missense_Mutation_p.T250N|HTR3E_uc003fmn.2_Missense_Mutation_p.T224N	p.T224N	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		6	1137	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		224			Extracellular (Potential).		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.671C>A	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	c	9.770	1.172440	0.21704	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000431041;ENST00000436361;ENST00000440596	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-0.19;-1.2;-1.2	3.74	3.74	0.42951	Neurotransmitter-gated ion-channel ligand-binding (3);	1.978000	0.03273	U	0.185113	D	0.86151	0.5864	M	0.64997	1.995	0.09310	N	1	B;D;D;D;D	0.69078	0.155;0.988;0.985;0.997;0.985	B;D;D;D;D	0.67900	0.105;0.954;0.923;0.923;0.923	T	0.69705	-0.5073	10	0.25751	T	0.34	.	11.2141	0.48817	0.0:1.0:0.0:0.0	.	250;224;224;239;209	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	N	224;209;239;153;224;250	ENSP00000401444:T224N;ENSP00000401900:T209N;ENSP00000335511:T239N;ENSP00000391254:T153N;ENSP00000395833:T224N;ENSP00000406050:T250N	ENSP00000335511:T239N	T	+	2	0	HTR3E	185305860	0.000000	0.05858	0.181000	0.23098	0.071000	0.16799	0.763000	0.26517	2.061000	0.61500	0.655000	0.94253	ACC		0.527	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589		17	70	1	0	1.15e-07	1.93e-07	17	70				
IL1RAP	3556	broad.mit.edu	37	3	190326880	190326880	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:190326880G>T	ENST00000412504.2	+	4	699	c.447G>T	c.(445-447)ctG>ctT	p.L149L	IL1RAP_ENST00000072516.3_Silent_p.L149L|IL1RAP_ENST00000317757.3_Silent_p.L149L|IL1RAP_ENST00000422485.1_Silent_p.L149L|IL1RAP_ENST00000434491.1_Silent_p.L8L|IL1RAP_ENST00000422940.1_Silent_p.L149L|IL1RAP_ENST00000439062.1_Silent_p.L149L|IL1RAP_ENST00000443369.2_Silent_p.L149L|IL1RAP_ENST00000447382.1_Silent_p.L149L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	149	Ig-like C2-type 2.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGCATAAACTGTATATAGAAT	0.388																																						uc003fsm.1		NA																	0				ovary(1)	1						c.(445-447)CTG>CTT		interleukin 1 receptor accessory protein isoform							112.0	109.0	110.0					3																	190326880		2203	4300	6503	SO:0001819	synonymous_variant	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190326880G>T	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.447G>T	3.37:g.190326880G>T						IL1RAP_uc003fsk.2_Silent_p.L149L|IL1RAP_uc003fsl.2_Silent_p.L149L|IL1RAP_uc010hzf.2_Silent_p.L8L|IL1RAP_uc010hzg.1_Silent_p.L149L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.L149L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.L149L	p.L149L	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	5	653	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		149			Extracellular (Potential).|Ig-like C2-type 2.		B1NLD0|D3DNW0|O14915|Q86WJ7	Silent	SNP	ENST00000412504.2	37	c.447G>T	CCDS3298.1																																																																																				0.388	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1			26	115	1	0	1.43e-11	2.61e-11	26	115				
PYDC2	152138	broad.mit.edu	37	3	191179206	191179206	+	Silent	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:191179206T>G	ENST00000518817.1	+	1	255	c.255T>G	c.(253-255)tcT>tcG	p.S85S		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	85	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						CGCATCTGTCTGGGAGAGCTG	0.517																																						uc011bso.1		NA																	0					0						c.(253-255)TCT>TCG		pyrin domain containing 2							93.0	98.0	96.0					3																	191179206		2132	4270	6402	SO:0001819	synonymous_variant	152138					cytoplasm|nucleus		g.chr3:191179206T>G			3q28	2008-07-29				ENSG00000253548			33512	protein-coding gene	gene with protein product		615701				17178784	Standard	NM_001083308		Approved	POP2	uc011bso.2	Q56P42		ENST00000518817.1:c.255T>G	3.37:g.191179206T>G							p.S85S	NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN			1	255	+			85			DAPIN.			Silent	SNP	ENST00000518817.1	37	c.255T>G																																																																																					0.517	PYDC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000343231.2	NM_001083308		30	180	0	0	0	0	30	180				
ACAP2	23527	broad.mit.edu	37	3	195012437	195012437	+	Silent	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:195012437T>A	ENST00000326793.6	-	20	2291	c.2061A>T	c.(2059-2061)acA>acT	p.T687T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	687					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCAGTTACCCTGTGTGCCCTA	0.403																																						uc003fun.3		NA																	0				large_intestine(1)|ovary(1)	2						c.(2059-2061)ACA>ACT		centaurin, beta 2							102.0	97.0	99.0					3																	195012437		2203	4300	6503	SO:0001819	synonymous_variant	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195012437T>A		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.2061A>T	3.37:g.195012437T>A							p.T687T	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			20	2302	-			687			ANK 2.		A8K2V4|Q8N5Z8|Q9UQR3	Silent	SNP	ENST00000326793.6	37	c.2061A>T	CCDS33924.1																																																																																				0.403	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287		19	114	0	0	0	0	19	114				
LMLN	89782	broad.mit.edu	37	3	197746225	197746225	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:197746225A>T	ENST00000330198.4	+	12	1356	c.1334A>T	c.(1333-1335)aAg>aTg	p.K445M	LMLN_ENST00000420910.2_Missense_Mutation_p.K482M|LMLN_ENST00000482695.1_Missense_Mutation_p.K430M|LMLN_ENST00000332636.5_Missense_Mutation_p.K393M	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	445					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AATTTGCAGAAGTTCCCTAAG	0.468																																						uc011buo.1		NA																	0				skin(1)	1						c.(1333-1335)AAG>ATG		leishmanolysin-like isoform 2							134.0	120.0	124.0					3																	197746225		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197746225A>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.1334A>T	3.37:g.197746225A>T	ENSP00000328829:p.Lys445Met					LMLN_uc003fyt.2_Missense_Mutation_p.K430M|LMLN_uc010iar.2_Missense_Mutation_p.K482M|LMLN_uc010ias.2_Missense_Mutation_p.K393M|LMLN_uc003fyu.2_Missense_Mutation_p.K242M	p.K445M	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	12	1356	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	445					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.1334A>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051284	0.55218	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.02	3.88	0.44766	.	0.050633	0.85682	D	0.000000	T	0.54095	0.1837	M	0.68952	2.095	0.43296	D	0.995287	D;D;D;D;P	0.76494	0.996;0.986;0.999;0.992;0.937	P;P;D;P;P	0.64144	0.895;0.882;0.922;0.895;0.831	T	0.53995	-0.8359	10	0.54805	T	0.06	-16.9947	5.8854	0.18878	0.7961:0.0:0.2039:0.0	.	445;393;482;474;430	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	M	430;445;482;393	ENSP00000418324:K430M;ENSP00000328829:K445M;ENSP00000410926:K482M;ENSP00000328611:K393M	ENSP00000328829:K445M	K	+	2	0	LMLN	199230622	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.636000	0.61339	0.966000	0.38159	0.529000	0.55759	AAG		0.468	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		16	67	0	0	0	0	16	67				
NOP14	8602	broad.mit.edu	37	4	2958516	2958516	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:2958516A>G	ENST00000314262.6	-	3	401	c.353T>C	c.(352-354)aTc>aCc	p.I118T	NOP14_ENST00000398071.4_Missense_Mutation_p.I118T|NOP14_ENST00000416614.2_Missense_Mutation_p.I118T|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.I118T	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	118					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TAGATTGTAGATGCTTTTTTT	0.358																																						uc003ggj.1		NA																	0				pancreas(1)	1						c.(352-354)ATC>ACC		probable nucleolar complex protein 14							107.0	97.0	100.0					4																	2958516		2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2958516A>G	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.353T>C	4.37:g.2958516A>G	ENSP00000315674:p.Ile118Thr					C4orf10_uc003ggi.1_Intron|NOP14_uc003ggk.3_Missense_Mutation_p.I118T|NOP14_uc003ggl.2_Missense_Mutation_p.I118T|NOP14_uc010icq.1_RNA	p.I118T	NM_003703	NP_003694	P78316	NOP14_HUMAN			3	425	-			118					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.353T>C	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.306948	0.81247	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.41	5.41	0.78517	.	0.265617	0.38778	N	0.001580	T	0.42630	0.1211	M	0.80746	2.51	0.48395	D	0.999643	P;B	0.37688	0.605;0.404	B;B	0.40256	0.324;0.229	T	0.49652	-0.8917	10	0.87932	D	0	-23.2757	15.1251	0.72475	1.0:0.0:0.0:0.0	.	118;118	E9PFK5;P78316	.;NOP14_HUMAN	T	118;118;118;118;17	ENSP00000405068:I118T;ENSP00000315674:I118T;ENSP00000427415:I118T;ENSP00000381146:I118T	ENSP00000315674:I118T	I	-	2	0	NOP14	2928314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.069000	0.93967	2.052000	0.61016	0.533000	0.62120	ATC		0.358	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2	NM_003703		7	40	0	0	0	0	7	40				
OTOP1	133060	broad.mit.edu	37	4	4199579	4199579	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:4199579C>T	ENST00000296358.4	-	5	1006	c.982G>A	c.(982-984)Gtg>Atg	p.V328M		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	328					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACCACCACAGCAATGGTG	0.547																																						uc003ghp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(982-984)GTG>ATG		otopetrin 1							50.0	47.0	48.0					4																	4199579		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199579C>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.982G>A	4.37:g.4199579C>T	ENSP00000296358:p.Val328Met						p.V328M	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1012	-			328			Helical; (Potential).		A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.982G>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	9.959	1.222284	0.22457	.	.	ENSG00000163982	ENST00000296358	T	0.24151	1.87	4.8	2.64	0.31445	.	0.421997	0.25388	N	0.031033	T	0.43964	0.1271	M	0.73962	2.25	0.20196	N	0.99993	D	0.69078	0.997	D	0.70487	0.969	T	0.14587	-1.0467	10	0.87932	D	0	.	6.1573	0.20344	0.0:0.6401:0.0:0.3599	.	328	Q7RTM1	OTOP1_HUMAN	M	328	ENSP00000296358:V328M	ENSP00000296358:V328M	V	-	1	0	OTOP1	4250480	0.043000	0.20138	0.104000	0.21259	0.018000	0.09664	0.403000	0.20982	1.156000	0.42514	0.404000	0.27445	GTG		0.547	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		24	52	0	0	0	0	24	52				
C4orf6	10141	broad.mit.edu	37	4	5527953	5527953	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:5527953C>T	ENST00000195455.2	+	2	352	c.177C>T	c.(175-177)gaC>gaT	p.D59D	C4orf6_ENST00000515342.1_3'UTR	NM_005750.2	NP_005741.1	Q99440	CD006_HUMAN	chromosome 4 open reading frame 6	59					nervous system development (GO:0007399)					large_intestine(1)|prostate(1)	2						GAACTGCAGACACTGCAGATA	0.448																																						uc003gii.2		NA																	0					0						c.(175-177)GAC>GAT		chromosome 4 open reading frame 6							93.0	87.0	89.0					4																	5527953		2203	4300	6503	SO:0001819	synonymous_variant	10141				nervous system development			g.chr4:5527953C>T	D82070	CCDS3381.1	4p16	2012-02-24			ENSG00000082929	ENSG00000082929			13716	protein-coding gene	gene with protein product						9016955	Standard	NM_005750		Approved	aC1	uc003gii.3	Q99440	OTTHUMG00000125492	ENST00000195455.2:c.177C>T	4.37:g.5527953C>T							p.D59D	NM_005750	NP_005741	Q99440	CD006_HUMAN			2	352	+			59					Q17R65	Silent	SNP	ENST00000195455.2	37	c.177C>T	CCDS3381.1	.	.	.	.	.	.	.	.	.	.	C	0.530	-0.858233	0.02610	.	.	ENSG00000082929	ENST00000505296	.	.	.	1.51	-0.409	0.12378	.	.	.	.	.	T	0.21227	0.0511	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24368	-1.0162	4	.	.	.	.	2.7589	0.05300	0.0:0.4854:0.3066:0.208	.	.	.	.	Y	47	.	.	H	+	1	0	C4orf6	5578854	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.224000	0.09164	-0.193000	0.10415	-0.379000	0.06801	CAC		0.448	C4orf6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246818.1	NM_005750		18	51	0	0	0	0	18	51				
JAKMIP1	152789	broad.mit.edu	37	4	6107405	6107405	+	Missense_Mutation	SNP	G	G	T	rs200561524		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:6107405G>T	ENST00000282924.5	-	3	904	c.419C>A	c.(418-420)gCg>gAg	p.A140E	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A140E|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.A140E|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409371.3_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	140	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCCTGCGCGCCTCCTCGCG	0.701																																						uc003giu.3		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(418-420)GCG>GAG		janus kinase and microtubule interacting protein							15.0	14.0	15.0					4																	6107405		2197	4287	6484	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107405G>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.419C>A	4.37:g.6107405G>T	ENSP00000282924:p.Ala140Glu					JAKMIP1_uc010idb.1_Missense_Mutation_p.A140E|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.A140E|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.A140E|JAKMIP1_uc010ide.2_Missense_Mutation_p.A140E	p.A140E	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			3	695	-			140			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.419C>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	G	33	5.226267	0.95173	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000282924;ENST00000409831	T;T;T	0.57752	0.38;0.38;0.38	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000002	T	0.74114	0.3674	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.78947	-0.2003	10	0.72032	D	0.01	.	16.7758	0.85550	0.0:0.0:1.0:0.0	.	140;140;140	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	E	140	ENSP00000386711:A140E;ENSP00000282924:A140E;ENSP00000386925:A140E	ENSP00000282924:A140E	A	-	2	0	JAKMIP1	6158306	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.239000	0.95389	2.259000	0.74868	0.484000	0.47621	GCG		0.701	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		5	9	1	0	3.6e-05	5.62e-05	5	9				
WFS1	7466	broad.mit.edu	37	4	6296916	6296916	+	Splice_Site	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:6296916G>T	ENST00000226760.1	+	7	1031	c.861G>T	c.(859-861)aaG>aaT	p.K287N	WFS1_ENST00000503569.1_Splice_Site_p.K287N	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	287					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGCGTCTGAAGGTGAGTGACC	0.657																																						uc003giy.2		NA																	0				central_nervous_system(2)	2						c.(859-861)AAG>AAT		wolframin							55.0	50.0	52.0					4																	6296916		2203	4300	6503	SO:0001630	splice_region_variant	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6296916G>T	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.861+1G>T	4.37:g.6296916G>T						WFS1_uc003gix.2_Missense_Mutation_p.K287N|WFS1_uc003giz.2_Missense_Mutation_p.K105N	p.K287N	NM_001145853	NP_001139325	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	7	1027	+			287					B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.861G>T	CCDS3386.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.248522|2.248522	0.39797|0.39797	.|.	.|.	ENSG00000109501|ENSG00000109501	ENST00000503569;ENST00000226760|ENST00000506362	D;D|.	0.94793|.	-3.52;-3.52|.	4.35|4.35	2.6|2.6	0.31112|0.31112	.|.	0.110634|.	0.64402|.	D|.	0.000011|.	T|T	0.59972|0.59972	0.2233|0.2233	L|L	0.60455|0.60455	1.87|1.87	0.45452|0.45452	D|D	0.99842|0.99842	P|.	0.43633|.	0.813|.	B|.	0.43274|.	0.414|.	T|T	0.55939|0.55939	-0.8061|-0.8061	10|5	0.72032|.	D|.	0.01|.	-20.6128|-20.6128	9.1439|9.1439	0.36921|0.36921	0.1798:0.0:0.8202:0.0|0.1798:0.0:0.8202:0.0	.|.	287|.	O76024|.	WFS1_HUMAN|.	N|M	287|165	ENSP00000423337:K287N;ENSP00000226760:K287N|.	ENSP00000226760:K287N|.	K|R	+|+	3|2	2|0	WFS1|WFS1	6347817|6347817	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.437000|0.437000	0.31866|0.31866	4.242000|4.242000	0.58714|0.58714	0.822000|0.822000	0.34565|0.34565	-0.369000|-0.369000	0.07265|0.07265	AAG|AGG		0.657	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1		Missense_Mutation	24	45	1	0	3.8e-20	7.72e-20	24	45				
BOD1L1	259282	broad.mit.edu	37	4	13605783	13605783	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:13605783G>T	ENST00000040738.5	-	10	2876	c.2741C>A	c.(2740-2742)tCa>tAa	p.S914*		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	914	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTGAGTTTTTGATTTAGACTT	0.383																																						uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(2740-2742)TCA>TAA		biorientation of chromosomes in cell division							157.0	154.0	155.0					4																	13605783		2203	4300	6503	SO:0001587	stop_gained	259282						DNA binding	g.chr4:13605783G>T	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.2741C>A	4.37:g.13605783G>T	ENSP00000040738:p.Ser914*					BOD1L_uc010idr.1_Nonsense_Mutation_p.S251*	p.S914*	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	2858	-			914			Lys-rich.		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Nonsense_Mutation	SNP	ENST00000040738.5	37	c.2741C>A	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	40	8.149685	0.98678	.	.	ENSG00000038219	ENST00000040738	.	.	.	5.4	5.4	0.78164	.	0.169186	0.28724	N	0.014343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.157	19.1532	0.93499	0.0:0.0:1.0:0.0	.	.	.	.	X	914	.	ENSP00000040738:S914X	S	-	2	0	BOD1L	13214881	1.000000	0.71417	0.949000	0.38748	0.528000	0.34623	7.262000	0.78410	2.534000	0.85438	0.555000	0.69702	TCA		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		34	103	1	0	4.32e-19	8.74e-19	34	103				
CD38	952	broad.mit.edu	37	4	15780186	15780186	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:15780186G>T	ENST00000226279.3	+	1	286	c.149G>T	c.(148-150)tGg>tTg	p.W50L		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	50					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CGCCAGCAGTGGAGCGGTCCG	0.617																																						uc011bxc.1		NA																	0				ovary(2)	2						c.(148-150)TGG>TTG		CD38 antigen							93.0	95.0	94.0					4																	15780186		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity	g.chr4:15780186G>T	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.149G>T	4.37:g.15780186G>T	ENSP00000226279:p.Trp50Leu					CD38_uc003goj.1_Missense_Mutation_p.W50L|CD38_uc003gol.1_Missense_Mutation_p.W50L	p.W50L	NM_001775	NP_001766	P28907	CD38_HUMAN			1	256	+			50			Extracellular (Potential).		O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.149G>T	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845210	0.51164	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.14640	2.49	2.37	2.37	0.29283	.	0.159233	0.44285	D	0.000472	T	0.29223	0.0727	M	0.63843	1.955	0.25032	N	0.99126	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.00989	-1.1489	10	0.87932	D	0	.	8.3628	0.32369	0.0:0.0:1.0:0.0	.	50;50	P28907;B2R880	CD38_HUMAN;.	L	50	ENSP00000226279:W50L	ENSP00000226279:W50L	W	+	2	0	CD38	15389284	0.639000	0.27234	0.315000	0.25238	0.027000	0.11550	1.643000	0.37217	1.674000	0.50907	0.462000	0.41574	TGG		0.617	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		36	84	1	0	2.87e-16	5.64e-16	36	84				
SLIT2	9353	broad.mit.edu	37	4	20255599	20255599	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:20255599C>A	ENST00000504154.1	+	1	413	c.161C>A	c.(160-162)cCc>cAc	p.P54H	SLIT2_ENST00000503823.1_Missense_Mutation_p.P54H|SLIT2_ENST00000273739.5_Missense_Mutation_p.P54H|SLIT2_ENST00000503837.1_Missense_Mutation_p.P54H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	54	LRRNT.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AGGAATATCCCCCGCAACACC	0.667																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(160-162)CCC>CAC		slit homolog 2 precursor							100.0	85.0	90.0					4																	20255599		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20255599C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.161C>A	4.37:g.20255599C>A	ENSP00000422591:p.Pro54His					SLIT2_uc003gps.1_Missense_Mutation_p.P54H	p.P54H	NM_004787	NP_004778	O94813	SLIT2_HUMAN			1	365	+			54			LRRNT.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.161C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791468	0.90367	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.99376	-5.79;-5.79;-5.79;-5.79	3.98	3.98	0.46160	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99518	0.9828	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97950	1.0331	10	0.87932	D	0	.	16.1974	0.82040	0.0:1.0:0.0:0.0	.	54;54	O94813-3;O94813	.;SLIT2_HUMAN	H	54	ENSP00000427548:P54H;ENSP00000422591:P54H;ENSP00000273739:P54H;ENSP00000422261:P54H	ENSP00000273739:P54H	P	+	2	0	SLIT2	19864697	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.897000	0.75671	2.201000	0.70794	0.467000	0.42956	CCC		0.667	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			20	65	1	0	9.96e-16	1.94e-15	20	65				
SLIT2	9353	broad.mit.edu	37	4	20568976	20568976	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:20568976C>T	ENST00000504154.1	+	27	3069	c.2817C>T	c.(2815-2817)gaC>gaT	p.D939D	SLIT2_ENST00000503823.1_Silent_p.D931D|SLIT2_ENST00000273739.5_Silent_p.D943D|SLIT2_ENST00000503837.1_Silent_p.D935D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	939	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATCCAGTTGACTTTTACCGAT	0.383																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(2815-2817)GAC>GAT		slit homolog 2 precursor							202.0	188.0	193.0					4																	20568976		2203	4299	6502	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20568976C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.2817C>T	4.37:g.20568976C>T						SLIT2_uc003gps.1_Silent_p.D931D	p.D939D	NM_004787	NP_004778	O94813	SLIT2_HUMAN			27	3021	+			939			EGF-like 1.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.2817C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776944	0.16120	.	.	ENSG00000145147	ENST00000509941	.	.	.	5.9	2.22	0.28083	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23084	-1.0198	4	.	.	.	.	1.8128	0.03094	0.1307:0.4611:0.1268:0.2814	.	.	.	.	F	70	.	.	L	+	1	0	SLIT2	20178074	0.997000	0.39634	0.996000	0.52242	0.991000	0.79684	0.557000	0.23454	0.096000	0.17463	0.650000	0.86243	CTT		0.383	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			32	79	0	0	0	0	32	79				
ZCCHC4	29063	broad.mit.edu	37	4	25314461	25314461	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:25314461C>A	ENST00000302874.4	+	1	54	c.30C>A	c.(28-30)gcC>gcA	p.A10A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	10							methyltransferase activity (GO:0008168)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGTTTGAAGCCGTGGAGGCAG	0.652											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003grl.3		NA																	0				ovary(2)	2						c.(28-30)GCC>GCA		zinc finger, CCHC domain containing 4							77.0	94.0	89.0					4																	25314461		2020	4182	6202	SO:0001819	synonymous_variant	29063						methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr4:25314461C>A	AF161537	CCDS43218.1	4p15.31	2014-02-18			ENSG00000168228	ENSG00000168228		"""Zinc fingers, CCHC domain containing"""	22917	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 4"""	611792				11042152	Standard	NM_024936		Approved	HSPC052, FLJ23024, ZGRF4	uc003grl.4	Q9H5U6	OTTHUMG00000160563	ENST00000302874.4:c.30C>A	4.37:g.25314461C>A			OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	778		p.A10A	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN			1	66	+		Breast(46;0.0503)	10					B2RXF6|B4DRD8|B7ZW20|Q5IW78|Q96AN7	Silent	SNP	ENST00000302874.4	37	c.30C>A	CCDS43218.1																																																																																				0.652	ZCCHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361151.1			47	108	1	0	6.77e-33	1.43e-32	47	108				
PCDH7	5099	broad.mit.edu	37	4	30725162	30725162	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:30725162C>T	ENST00000361762.2	+	1	3126	c.2118C>T	c.(2116-2118)acC>acT	p.T706T	PCDH7_ENST00000543491.1_Silent_p.T706T	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	706	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AACATCAGACCACATACACTT	0.443																																						uc003gsk.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2116-2118)ACC>ACT		protocadherin 7 isoform a precursor							118.0	115.0	116.0					4																	30725162		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725162C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2118C>T	4.37:g.30725162C>T						PCDH7_uc011bxw.1_Silent_p.T659T|PCDH7_uc011bxx.1_Silent_p.T706T	p.T706T	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3126	+			706			Extracellular (Potential).|Cadherin 6.		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.2118C>T	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	C	1.982	-0.433894	0.04669	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.25	0.24	0.15489	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40776	-0.9545	4	.	.	.	.	6.7351	0.23405	0.1194:0.5911:0.0:0.2895	.	.	.	.	Y	396	.	.	H	+	1	0	PCDH7	30334260	0.960000	0.32886	0.995000	0.50966	0.916000	0.54674	0.144000	0.16135	0.088000	0.17205	-0.136000	0.14681	CAC		0.443	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		29	70	0	0	0	0	29	70				
ARAP2	116984	broad.mit.edu	37	4	36230489	36230489	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:36230489C>G	ENST00000303965.4	-	2	1109	c.620G>C	c.(619-621)aGt>aCt	p.S207T		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	207					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGGGAGCTTACTGAGATTTTC	0.338																																						uc003gsq.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(619-621)AGT>ACT		ArfGAP with RhoGAP domain, ankyrin repeat and PH							118.0	117.0	117.0					4																	36230489		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36230489C>G	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.620G>C	4.37:g.36230489C>G	ENSP00000302895:p.Ser207Thr					ARAP2_uc003gsr.1_Missense_Mutation_p.S207T	p.S207T	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			2	958	-			207					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.620G>C	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	C	3.035	-0.198748	0.06219	.	.	ENSG00000047365	ENST00000303965	T	0.08896	3.04	5.4	1.77	0.24775	.	0.641675	0.16286	N	0.221134	T	0.06280	0.0162	L	0.29908	0.895	0.09310	N	1	B;B	0.14805	0.004;0.011	B;B	0.17979	0.009;0.02	T	0.35649	-0.9780	10	0.36615	T	0.2	.	7.4997	0.27511	0.0:0.6456:0.0:0.3544	.	137;207	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	T	207	ENSP00000302895:S207T	ENSP00000302895:S207T	S	-	2	0	ARAP2	35906884	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.427000	0.06999	0.226000	0.20979	-0.706000	0.03657	AGT		0.338	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		25	84	0	0	0	0	25	84				
TBC1D1	23216	broad.mit.edu	37	4	37903767	37903767	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:37903767C>A	ENST00000261439.4	+	2	406	c.51C>A	c.(49-51)gtC>gtA	p.V17V	TBC1D1_ENST00000402522.1_Silent_p.V17V|TBC1D1_ENST00000508802.1_Silent_p.V17V	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	17					membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTAACGAGGTCTCGGTGGATT	0.522																																						uc003gtb.2		NA																	0				ovary(1)	1						c.(49-51)GTC>GTA		TBC1 (tre-2/USP6, BUB2, cdc16) domain family,							106.0	97.0	100.0					4																	37903767		2203	4300	6503	SO:0001819	synonymous_variant	23216					nucleus	Rab GTPase activator activity	g.chr4:37903767C>A	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.51C>A	4.37:g.37903767C>A						TBC1D1_uc011byd.1_Silent_p.V17V|TBC1D1_uc010ifd.2_Silent_p.V17V	p.V17V	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN			2	394	+			17					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Silent	SNP	ENST00000261439.4	37	c.51C>A	CCDS33972.1																																																																																				0.522	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		31	73	1	0	3.99e-17	7.9e-17	31	73				
KLB	152831	broad.mit.edu	37	4	39408952	39408952	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:39408952G>T	ENST00000257408.4	+	1	480	c.383G>T	c.(382-384)aGt>aTt	p.S128I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	128	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AATGGTTCCAGTGACAGTTAT	0.398																																						uc003gua.2		NA																	0				skin(1)	1						c.(382-384)AGT>ATT		klotho beta							94.0	102.0	99.0					4																	39408952		2203	4300	6503	SO:0001583	missense	152831				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr4:39408952G>T	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.383G>T	4.37:g.39408952G>T	ENSP00000257408:p.Ser128Ile					KLB_uc011byj.1_Missense_Mutation_p.S128I	p.S128I	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN			1	480	+			128			Extracellular (Potential).|Glycosyl hydrolase-1 1.		Q2M3K8	Missense_Mutation	SNP	ENST00000257408.4	37	c.383G>T	CCDS3451.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.460890	0.63513	.	.	ENSG00000134962	ENST00000257408	T	0.31769	1.48	4.7	3.83	0.44106	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.092383	0.64402	D	0.000001	T	0.38746	0.1052	L	0.37466	1.105	0.40764	D	0.983035	D;D	0.59767	0.986;0.986	P;P	0.57620	0.824;0.824	T	0.21895	-1.0232	10	0.52906	T	0.07	-13.0336	13.1606	0.59542	0.0:0.3195:0.6805:0.0	.	128;128	B7ZL50;Q86Z14	.;KLOTB_HUMAN	I	128	ENSP00000257408:S128I	ENSP00000257408:S128I	S	+	2	0	KLB	39085347	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	4.720000	0.61944	0.920000	0.36970	0.467000	0.42956	AGT		0.398	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737		37	113	1	0	2.1e-21	4.28e-21	37	113				
SLC30A9	10463	broad.mit.edu	37	4	42022531	42022531	+	Splice_Site	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:42022531A>T	ENST00000264451.7	+	4	613	c.433A>T	c.(433-435)Agt>Tgt	p.S145C		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	145					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCTCAAATCCAGGTAATTTTT	0.348																																						uc003gwl.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(433-435)AGT>TGT		solute carrier family 30 (zinc transporter),							78.0	74.0	75.0					4																	42022531		2203	4298	6501	SO:0001630	splice_region_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42022531A>T	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.434+1A>T	4.37:g.42022531A>T						SLC30A9_uc011byx.1_5'UTR	p.S145C	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN			4	579	+			145					Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	37	c.433A>T	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	A	29.9	5.045809	0.93685	.	.	ENSG00000014824	ENST00000264451	T	0.57595	0.39	5.95	5.95	0.96441	DNA binding domain, putative (1);	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	N	0.16833	0.445	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.64837	-0.6313	10	0.87932	D	0	-19.1203	16.4116	0.83717	1.0:0.0:0.0:0.0	.	145	Q6PML9	ZNT9_HUMAN	C	145	ENSP00000264451:S145C	ENSP00000264451:S145C	S	+	1	0	SLC30A9	41717288	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.788000	0.91834	2.276000	0.75962	0.528000	0.53228	AGT		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		Missense_Mutation	30	67	0	0	0	0	30	67				
KCTD8	386617	broad.mit.edu	37	4	44450416	44450416	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:44450416A>T	ENST00000360029.3	-	1	408	c.125T>A	c.(124-126)tTc>tAc	p.F42Y	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	42					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACTTCAGGGAAGGGCGAGGG	0.667										HNSCC(17;0.042)																												uc003gwu.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(124-126)TTC>TAC		potassium channel tetramerisation domain							19.0	16.0	17.0					4																	44450416		2118	4150	6268	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450416A>T	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.125T>A	4.37:g.44450416A>T	ENSP00000353129:p.Phe42Tyr	HNSCC(17;0.042)					p.F42Y	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			1	409	-			42					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.125T>A	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.737193	0.30774	.	.	ENSG00000183783	ENST00000360029	T	0.40476	1.03	4.01	4.01	0.46588	.	0.076817	0.53938	D	0.000051	T	0.26919	0.0659	N	0.17082	0.46	0.30645	N	0.756079	B	0.15719	0.014	B	0.11329	0.006	T	0.16453	-1.0402	10	0.33940	T	0.23	.	12.2391	0.54532	1.0:0.0:0.0:0.0	.	42	Q6ZWB6	KCTD8_HUMAN	Y	42	ENSP00000353129:F42Y	ENSP00000353129:F42Y	F	-	2	0	KCTD8	44145173	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	6.928000	0.75846	1.665000	0.50811	0.383000	0.25322	TTC		0.667	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			5	24	0	0	0	0	5	24				
LRRC66	339977	broad.mit.edu	37	4	52860966	52860966	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:52860966C>A	ENST00000343457.3	-	4	2228	c.2222G>T	c.(2221-2223)gGg>gTg	p.G741V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	741						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTTGCTTGCCCCTGAGCTCTC	0.493																																						uc003gzi.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2221-2223)GGG>GTG		leucine rich repeat containing 66							123.0	122.0	122.0					4																	52860966		2030	4192	6222	SO:0001583	missense	339977					integral to membrane		g.chr4:52860966C>A	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.2222G>T	4.37:g.52860966C>A	ENSP00000341944:p.Gly741Val						p.G741V	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	2235	-			741						Missense_Mutation	SNP	ENST00000343457.3	37	c.2222G>T	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.360928	0.24684	.	.	ENSG00000188993	ENST00000343457	T	0.30714	1.52	4.27	2.32	0.28847	.	0.307471	0.24271	N	0.039982	T	0.20618	0.0496	L	0.32530	0.975	0.18873	N	0.999983	B	0.28880	0.226	B	0.28784	0.094	T	0.18840	-1.0324	10	0.87932	D	0	-8.0614	6.5197	0.22269	0.2093:0.5879:0.2028:0.0	.	741	Q68CR7	LRC66_HUMAN	V	741	ENSP00000341944:G741V	ENSP00000341944:G741V	G	-	2	0	LRRC66	52555723	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.218000	0.17622	1.104000	0.41587	0.655000	0.94253	GGG		0.493	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1	NM_001024611		37	96	1	0	9.63e-15	1.85e-14	37	96				
PDGFRA	5156	broad.mit.edu	37	4	55139799	55139799	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:55139799G>C	ENST00000257290.5	+	10	1791	c.1460G>C	c.(1459-1461)cGt>cCt	p.R487P	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	487	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTGGAGGGCCGTGTGACTTTC	0.522			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3		NA		Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		0				soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1459-1461)CGT>CCT		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						97.0	93.0	94.0					4																	55139799		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55139799G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1460G>C	4.37:g.55139799G>C	ENSP00000257290:p.Arg487Pro	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R381P|PDGFRA_uc003ham.2_RNA	p.R487P	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		10	1791	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		487			Ig-like C2-type 5.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1460G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	7.188	0.590928	0.13812	.	.	ENSG00000134853	ENST00000257290	T	0.75704	-0.96	5.48	-0.17	0.13335	Immunoglobulin-like fold (1);	1.087190	0.07408	U	0.891957	T	0.49218	0.1544	N	0.08118	0	0.80722	D	1	B;B	0.30482	0.001;0.281	B;B	0.24848	0.009;0.056	T	0.20773	-1.0265	10	0.27082	T	0.32	.	5.2263	0.15396	0.499:0.0:0.3661:0.1349	.	487;487	P16234-3;P16234	.;PGFRA_HUMAN	P	487	ENSP00000257290:R487P	ENSP00000257290:R487P	R	+	2	0	PDGFRA	54834556	1.000000	0.71417	0.055000	0.19348	0.006000	0.05464	1.636000	0.37144	-0.178000	0.10672	-0.824000	0.03097	CGT		0.522	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		28	78	0	0	0	0	28	78				
KIT	3815	broad.mit.edu	37	4	55604710	55604710	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:55604710A>G	ENST00000288135.5	+	21	3015	c.2918A>G	c.(2917-2919)cAc>cGc	p.H973R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	973					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCTTGTGCACGACGATGTC	0.512		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(2917-2919)CAC>CGC		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						114.0	113.0	113.0					4																	55604710		2203	4300	6503	SO:0001583	missense	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55604710A>G	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2918A>G	4.37:g.55604710A>G	ENSP00000288135:p.His973Arg					KIT_uc010igs.2_Missense_Mutation_p.H969R	p.H973R	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	21	3005	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		973			Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2918A>G	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	3.409	-0.120656	0.06838	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.76186	-1.0;-1.0	5.72	3.31	0.37934	.	0.285250	0.30177	N	0.010223	T	0.59756	0.2217	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.21309	0.054;0.025	B;B	0.22152	0.038;0.035	T	0.47522	-0.9111	10	0.33141	T	0.24	.	8.1717	0.31258	0.7717:0.0:0.2283:0.0	.	969;973	P10721-2;P10721	.;KIT_HUMAN	R	973;969	ENSP00000288135:H973R;ENSP00000390987:H969R	ENSP00000288135:H973R	H	+	2	0	KIT	55299467	0.296000	0.24398	0.165000	0.22776	0.008000	0.06430	1.547000	0.36190	0.451000	0.26802	-0.411000	0.06167	CAC		0.512	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			46	111	0	0	0	0	46	111				
AASDH	132949	broad.mit.edu	37	4	57215852	57215852	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:57215852A>T	ENST00000205214.6	-	11	2245	c.2065T>A	c.(2065-2067)Tct>Act	p.S689T	AASDH_ENST00000513376.1_Missense_Mutation_p.S589T|AASDH_ENST00000502617.1_Missense_Mutation_p.S689T|AASDH_ENST00000451613.1_Missense_Mutation_p.S689T|AASDH_ENST00000602986.1_Missense_Mutation_p.S536T|AASDH_ENST00000434343.2_Missense_Mutation_p.S204T	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	689					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAATTCAGAGACAAAATTTGA	0.393																																						uc003hbn.2		NA																	0				ovary(4)	4						c.(2065-2067)TCT>ACT		aminoadipate-semialdehyde dehydrogenase							95.0	90.0	92.0					4																	57215852		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215852A>T	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2065T>A	4.37:g.57215852A>T	ENSP00000205214:p.Ser689Thr					AASDH_uc010ihb.2_Missense_Mutation_p.S204T|AASDH_uc011caa.1_Missense_Mutation_p.S536T|AASDH_uc003hbo.2_Missense_Mutation_p.S589T|AASDH_uc011cab.1_Missense_Mutation_p.S204T|AASDH_uc010ihc.2_Missense_Mutation_p.S689T|AASDH_uc003hbp.2_Missense_Mutation_p.S689T	p.S689T	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			11	2218	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	689					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2065T>A	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	A	8.190	0.795812	0.16327	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66	5.52	1.61	0.23674	.	0.726251	0.14387	N	0.322750	T	0.12390	0.0301	M	0.62723	1.935	0.09310	N	0.999992	P;P;P;P	0.48694	0.914;0.646;0.589;0.454	B;B;B;B	0.40134	0.32;0.196;0.21;0.15	T	0.17806	-1.0357	10	0.38643	T	0.18	-3.3193	4.2835	0.10844	0.6779:0.1302:0.0674:0.1244	.	536;689;689;689	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	T	689;589;204;689;536;689	ENSP00000205214:S689T;ENSP00000423760:S589T;ENSP00000392158:S204T;ENSP00000409656:S689T;ENSP00000421171:S689T	ENSP00000205214:S689T	S	-	1	0	AASDH	56910609	0.003000	0.15002	0.008000	0.14137	0.025000	0.11179	0.530000	0.23036	0.133000	0.18654	0.528000	0.53228	TCT		0.393	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806		24	79	0	0	0	0	24	79				
TECRL	253017	broad.mit.edu	37	4	65275045	65275045	+	Missense_Mutation	SNP	C	C	A	rs373269339		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:65275045C>A	ENST00000381210.3	-	1	135	c.25G>T	c.(25-27)Gct>Tct	p.A9S	TECRL_ENST00000507440.1_Missense_Mutation_p.A9S	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	9					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CGTTCCGAAGCGAGGGACTTG	0.393																																						uc003hcv.2		NA																	0					0						c.(25-27)GCT>TCT		steroid 5 alpha-reductase 2-like 2							120.0	120.0	120.0					4																	65275045		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65275045C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.25G>T	4.37:g.65275045C>A	ENSP00000370607:p.Ala9Ser					TECRL_uc003hcw.2_Missense_Mutation_p.A9S	p.A9S	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			1	134	-			9						Missense_Mutation	SNP	ENST00000381210.3	37	c.25G>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	9.737	1.163734	0.21538	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.43688	0.94;0.94;0.94	4.56	2.78	0.32641	.	0.207467	0.33610	N	0.004738	T	0.35451	0.0932	L	0.50919	1.6	0.20074	N	0.999936	B;B	0.17465	0.022;0.021	B;B	0.19391	0.025;0.011	T	0.33854	-0.9852	10	0.66056	D	0.02	-2.8432	8.483	0.33054	0.1743:0.6576:0.1681:0.0	.	9;9	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	S	9	ENSP00000426043:A9S;ENSP00000370607:A9S;ENSP00000422497:A9S	ENSP00000370607:A9S	A	-	1	0	TECRL	64957640	0.012000	0.17670	0.991000	0.47740	0.169000	0.22640	-0.240000	0.08952	0.441000	0.26529	0.650000	0.86243	GCT		0.393	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		25	57	1	0	4.6e-10	8.2e-10	25	57				
EPHA5	2044	broad.mit.edu	37	4	66356139	66356139	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:66356139C>G	ENST00000273854.3	-	5	1958	c.1358G>C	c.(1357-1359)gGa>gCa	p.G453A	EPHA5_ENST00000354839.4_Missense_Mutation_p.G453A|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.G453A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	453	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CTGCCGGGCTCCTGGGCTCAA	0.468										TSP Lung(17;0.13)																												uc003hcy.2		NA																	0				lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1357-1359)GGA>GCA		ephrin receptor EphA5 isoform a precursor							93.0	77.0	83.0					4																	66356139		2203	4300	6503	SO:0001583	missense	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.chr4:66356139C>G	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.1358G>C	4.37:g.66356139C>G	ENSP00000273854:p.Gly453Ala	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.G384A|EPHA5_uc003hcz.2_Missense_Mutation_p.G453A|EPHA5_uc011cah.1_Missense_Mutation_p.G453A|EPHA5_uc011cai.1_Missense_Mutation_p.G453A|EPHA5_uc003hda.2_Missense_Mutation_p.G453A	p.G453A	NM_004439	NP_004430	P54756	EPHA5_HUMAN			5	1551	-			453			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.1358G>C	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	9.580	1.123265	0.20959	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.72942	-0.7;-0.67;-0.68	6.08	5.23	0.72850	Fibronectin, type III (1);	0.100851	0.43747	D	0.000534	T	0.47691	0.1459	N	0.12182	0.205	0.37912	D	0.931413	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.10450	0.002;0.004;0.001;0.005	T	0.45789	-0.9237	10	0.06891	T	0.86	.	11.1575	0.48497	0.0:0.8019:0.1296:0.0685	.	453;453;453;453	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	A	453	ENSP00000273854:G453A;ENSP00000346899:G453A;ENSP00000427638:G453A	ENSP00000273854:G453A	G	-	2	0	EPHA5	66038734	0.275000	0.24201	1.000000	0.80357	0.977000	0.68977	0.735000	0.26115	2.894000	0.99253	0.591000	0.81541	GGA		0.468	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		21	58	0	0	0	0	21	58				
TMPRSS11F	389208	broad.mit.edu	37	4	68919756	68919756	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:68919756A>T	ENST00000356291.2	-	10	1247	c.1188T>A	c.(1186-1188)gaT>gaA	p.D396E	UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	396	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGTCATGATTATCATAAACCA	0.368																																						uc003hdt.1		NA																	0				ovary(1)	1						c.(1186-1188)GAT>GAA		transmembrane protease, serine 11F							137.0	129.0	132.0					4																	68919756		2203	4300	6503	SO:0001583	missense	389208				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68919756A>T	AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1188T>A	4.37:g.68919756A>T	ENSP00000348639:p.Asp396Glu					LOC550112_uc003hdl.3_Intron|uc011cak.1_Intron	p.D396E	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN			10	1237	-			396			Peptidase S1.|Extracellular (Potential).		A8MXX2	Missense_Mutation	SNP	ENST00000356291.2	37	c.1188T>A	CCDS3520.1	.	.	.	.	.	.	.	.	.	.	a	17.41	3.382116	0.61845	.	.	ENSG00000198092	ENST00000356291	D	0.88124	-2.34	5.61	1.44	0.22558	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.56097	D	0.000023	T	0.78629	0.4313	N	0.05306	-0.075	0.23946	N	0.99639	D	0.63880	0.993	D	0.75484	0.986	T	0.71002	-0.4718	10	0.02654	T	1	.	4.7291	0.12955	0.4984:0.1604:0.3412:0.0	.	396	Q6ZWK6	TM11F_HUMAN	E	396	ENSP00000348639:D396E	ENSP00000348639:D396E	D	-	3	2	TMPRSS11F	68602351	0.002000	0.14202	0.992000	0.48379	0.953000	0.61014	-0.126000	0.10563	0.012000	0.14892	-0.359000	0.07587	GAT		0.368	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251439.1	NM_207407		16	45	0	0	0	0	16	45				
UGT2B11	10720	broad.mit.edu	37	4	70080161	70080161	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:70080161C>A	ENST00000446444.1	-	1	288	c.280G>T	c.(280-282)Gtt>Ttt	p.V94F	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	94					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTCTTAACCTGTTGCATG	0.313																																						uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(280-282)GTT>TTT		UDP glucuronosyltransferase 2 family,							74.0	91.0	85.0					4																	70080161		2196	4295	6491	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080161C>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.280G>T	4.37:g.70080161C>A	ENSP00000387683:p.Val94Phe					uc003hei.1_Intron	p.V94F	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	289	-			94					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.280G>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	1.308	-0.602892	0.03744	.	.	ENSG00000213759	ENST00000446444	T	0.62232	0.04	1.96	-3.91	0.04168	.	0.743599	0.10613	U	0.654300	T	0.46444	0.1393	L	0.58428	1.81	0.09310	N	1	B	0.06786	0.001	B	0.15870	0.014	T	0.34129	-0.9841	10	0.19590	T	0.45	.	1.351	0.02173	0.1653:0.3841:0.1666:0.284	.	94	O75310	UDB11_HUMAN	F	94	ENSP00000387683:V94F	ENSP00000387683:V94F	V	-	1	0	UGT2B11	70114750	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.061000	0.01391	-2.020000	0.00940	-1.109000	0.02080	GTT		0.313	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		48	118	1	0	4.64e-19	9.38e-19	48	118				
CSN2	1447	broad.mit.edu	37	4	70823471	70823471	+	Missense_Mutation	SNP	A	A	T	rs139725489		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:70823471A>T	ENST00000353151.3	-	5	207	c.196T>A	c.(196-198)Tat>Aat	p.Y66N		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						ACGAATGGATAGATCAGAGGC	0.443																																						uc003hes.3		NA																	0					0						c.(196-198)TAT>AAT		casein beta precursor							108.0	108.0	108.0					4																	70823471		2203	4300	6503	SO:0001583	missense	1447				calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity	g.chr4:70823471A>T	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.196T>A	4.37:g.70823471A>T	ENSP00000341030:p.Tyr66Asn					CSN2_uc003het.3_Missense_Mutation_p.Y65N	p.Y66N	NM_001891	NP_001882	P05814	CASB_HUMAN			5	209	-			66					O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000353151.3	37	c.196T>A	CCDS3532.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308432	0.40895	.	.	ENSG00000135222	ENST00000353151	.	.	.	4.13	1.6	0.23607	.	1.176940	0.06353	N	0.710242	T	0.39835	0.1093	M	0.61703	1.905	0.09310	N	1	P	0.50943	0.94	P	0.46850	0.529	T	0.27773	-1.0064	9	0.66056	D	0.02	-10.7114	3.7339	0.08503	0.7091:0.0:0.1035:0.1874	.	66	P05814	CASB_HUMAN	N	66	.	ENSP00000341030:Y66N	Y	-	1	0	CSN2	70858060	0.000000	0.05858	0.009000	0.14445	0.002000	0.02628	-0.420000	0.07062	0.350000	0.24002	0.528000	0.53228	TAT		0.443	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251565.1			21	56	0	0	0	0	21	56				
ADAMTS3	9508	broad.mit.edu	37	4	73205293	73205293	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:73205293A>T	ENST00000286657.4	-	5	815	c.779T>A	c.(778-780)gTa>gAa	p.V260E		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	260	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCCCAGCAGTACCTCGATATT	0.478																																					NSCLC(168;1941 2048 2918 13048 43078)	uc003hgk.1		NA																	0				ovary(1)|lung(1)	2						c.(778-780)GTA>GAA		ADAM metallopeptidase with thrombospondin type 1							310.0	300.0	303.0					4																	73205293		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73205293A>T	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.779T>A	4.37:g.73205293A>T	ENSP00000286657:p.Val260Glu						p.V260E	NM_014243	NP_055058	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		5	816	-			260			Peptidase M12B.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.779T>A	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875045	0.91664	.	.	ENSG00000156140	ENST00000286657	T	0.64991	-0.13	5.31	5.31	0.75309	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.249705	0.32640	N	0.005836	T	0.80215	0.4582	M	0.82823	2.61	0.80722	D	1	D	0.63046	0.992	D	0.70716	0.97	D	0.83564	0.0108	10	0.87932	D	0	.	15.4324	0.75112	1.0:0.0:0.0:0.0	.	260	O15072	ATS3_HUMAN	E	260	ENSP00000286657:V260E	ENSP00000286657:V260E	V	-	2	0	ADAMTS3	73424157	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.081000	0.94049	2.231000	0.72958	0.460000	0.39030	GTA		0.478	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			84	239	0	0	0	0	84	239				
AFP	174	broad.mit.edu	37	4	74318195	74318195	+	Silent	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:74318195T>A	ENST00000395792.2	+	12	1606	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	AFP_ENST00000226359.2_Silent_p.T502T	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	502	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				ovulation from ovarian follicle (GO:0001542)|progesterone metabolic process (GO:0042448)|SMAD protein signal transduction (GO:0060395)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGTGCTGCACTTCTTCATATG	0.443									Alpha-Fetoprotein, Hereditary Persistence of																													uc003hgz.1		NA																	0				ovary(1)	1						c.(1504-1506)ACT>ACA		alpha-fetoprotein precursor							141.0	130.0	134.0					4																	74318195		2203	4300	6503	SO:0001819	synonymous_variant	174	Alpha-Fetoprotein_Hereditary_Persistence_of	Familial Cancer Database	HPAFP	transport		metal ion binding	g.chr4:74318195T>A	V01514	CCDS3556.1	4q13.3	2012-05-16			ENSG00000081051	ENSG00000081051			317	protein-coding gene	gene with protein product		104150		HPAFP			Standard	NM_001134		Approved	FETA	uc003hgz.1	P02771	OTTHUMG00000130011	ENST00000395792.2:c.1506T>A	4.37:g.74318195T>A						AFP_uc003hha.1_Silent_p.T502T|AFP_uc011cbg.1_Silent_p.T276T	p.T502T	NM_001134	NP_001125	P02771	FETA_HUMAN	Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1553	+	Breast(15;0.00102)		502			Albumin 3.		B2RBU3	Silent	SNP	ENST00000395792.2	37	c.1506T>A	CCDS3556.1																																																																																				0.443	AFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252284.3			27	76	0	0	0	0	27	76				
HERC5	51191	broad.mit.edu	37	4	89407376	89407377	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:89407376_89407377TG>CT	ENST00000264350.3	+	14	2001_2002	c.1848_1849TG>CT	c.(1846-1851)acTGtg>acCTtg	p.V617L	HERC5_ENST00000508159.1_Missense_Mutation_p.V255L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	617					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.T616T(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGAAAATGACTGTGGTAGGTAT	0.371																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2		NA																	1	Substitution - coding silent(1)	p.T616T(1)	ovary(1)	ovary(4)|lung(3)|skin(2)	9						c.(1846-1851)ACTGTG>ACCTTG		hect domain and RLD 5																																				SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89407376_89407377TG>CT	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	Exception_encountered	4.37:g.89407376_89407377delinsCT	ENSP00000264350:p.Val617Leu					HERC5_uc011cdm.1_Missense_Mutation_p.V255L	p.V617L	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	14	2001_2002	+		Hepatocellular(203;0.114)	617					B2RTQ1|Q69G20	Missense_Mutation	DNP	ENST00000264350.3	37	c.1848_1849TG>CT	CCDS3630.1																																																																																				0.371	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		13	32	0	0	0	0	13	32				
GRID2	2895	broad.mit.edu	37	4	94006343	94006343	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:94006343C>A	ENST00000282020.4	+	3	700	c.442C>A	c.(442-444)Cca>Aca	p.P148T	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Intron	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	148					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		CTCAGTTCGCCCACCTGTCTA	0.478																																						uc011cdt.1		NA																	0				ovary(3)|skin(2)|large_intestine(1)	6						c.(442-444)CCA>ACA		glutamate receptor, ionotropic, delta 2	L-Glutamic Acid(DB00142)						106.0	102.0	103.0					4																	94006343		2203	4300	6503	SO:0001583	missense	2895				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr4:94006343C>A	AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.442C>A	4.37:g.94006343C>A	ENSP00000282020:p.Pro148Thr					GRID2_uc010ikx.2_Missense_Mutation_p.P148T|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA	p.P148T	NM_001510	NP_001501	O43424	GRID2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	3	700	+		Hepatocellular(203;0.114)|all_hematologic(202;0.177)	148			Extracellular (Potential).		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	ENST00000282020.4	37	c.442C>A	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658736	0.88154	.	.	ENSG00000152208	ENST00000282020	D	0.86366	-2.11	5.23	5.23	0.72850	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92390	0.5920	10	0.87932	D	0	.	19.1731	0.93588	0.0:1.0:0.0:0.0	.	148;89	O43424;B4DYB9	GRID2_HUMAN;.	T	148	ENSP00000282020:P148T	ENSP00000282020:P148T	P	+	1	0	GRID2	94225366	1.000000	0.71417	0.956000	0.39512	0.948000	0.59901	7.776000	0.85560	2.613000	0.88420	0.655000	0.94253	CCA		0.478	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2			29	77	1	0	7.26e-15	1.4e-14	29	77				
PDHA2	5161	broad.mit.edu	37	4	96761796	96761796	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:96761796C>A	ENST00000295266.4	+	1	558	c.495C>A	c.(493-495)gtC>gtA	p.V165V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		ATGGCATCGTCGGTGCACAGG	0.507																																						uc003htr.3		NA																	0				central_nervous_system(1)	1						c.(493-495)GTC>GTA		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						68.0	71.0	70.0					4																	96761796		2203	4300	6503	SO:0001819	synonymous_variant	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761796C>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.495C>A	4.37:g.96761796C>A							p.V165V	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	558	+		Hepatocellular(203;0.114)	165					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Silent	SNP	ENST00000295266.4	37	c.495C>A	CCDS3644.1																																																																																				0.507	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			26	69	1	0	3.29e-13	6.16e-13	26	69				
BANK1	55024	broad.mit.edu	37	4	102951361	102951361	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:102951361C>A	ENST00000322953.4	+	10	2113	c.1839C>A	c.(1837-1839)gcC>gcA	p.A613A	BANK1_ENST00000504592.1_Silent_p.A598A|BANK1_ENST00000428908.1_Silent_p.A480A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000444316.2_Silent_p.A583A|BANK1_ENST00000508653.1_Silent_p.A480A	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	613					B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACCTCCTGCCCCCACACCCC	0.373																																						uc003hvy.3		NA																	0				ovary(2)|skin(1)	3						c.(1837-1839)GCC>GCA		B-cell scaffold protein with ankyrin repeats 1							97.0	104.0	102.0					4																	102951361		2203	4300	6503	SO:0001819	synonymous_variant	55024				B cell activation			g.chr4:102951361C>A	AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.1839C>A	4.37:g.102951361C>A						BANK1_uc003hvx.3_Silent_p.A598A|BANK1_uc010ill.2_Silent_p.A480A|BANK1_uc003hvz.3_Silent_p.A583A	p.A613A	NM_017935	NP_060405	Q8NDB2	BANK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)	10	2113	+		Hepatocellular(203;0.217)	613					A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Silent	SNP	ENST00000322953.4	37	c.1839C>A	CCDS34038.1																																																																																				0.373	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363161.1	NM_017935		25	48	1	0	6.33e-13	1.18e-12	25	48				
LEF1	51176	broad.mit.edu	37	4	109088901	109088901	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:109088901C>T	ENST00000265165.1	-	1	677	c.23G>A	c.(22-24)gGt>gAt	p.G8D	LEF1-AS1_ENST00000436413.1_RNA|LEF1_ENST00000512172.1_5'Flank|LEF1_ENST00000510624.1_5'Flank|LEF1_ENST00000379951.2_Missense_Mutation_p.G8D|LEF1_ENST00000438313.2_Missense_Mutation_p.G8D	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	8	CTNNB1-binding. {ECO:0000250}.|Poly-Gly.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|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)|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)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GCCGCCGCCACCTCCTCCGGA	0.642																																						uc003hyt.1		NA																	0				large_intestine(1)	1						c.(22-24)GGT>GAT		lymphoid enhancer-binding factor 1 isoform 1							39.0	49.0	46.0					4																	109088901		2200	4295	6495	SO:0001583	missense	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109088901C>T		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.23G>A	4.37:g.109088901C>T	ENSP00000265165:p.Gly8Asp					LEF1_uc011cfj.1_5'Flank|LEF1_uc011cfk.1_5'Flank|LEF1_uc003hyu.1_Missense_Mutation_p.G8D|LEF1_uc003hyv.1_Missense_Mutation_p.G8D|LEF1_uc010imb.1_RNA	p.G8D	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	1	678	-			8			Poly-Gly.|CTNNB1-binding (By similarity).		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Missense_Mutation	SNP	ENST00000265165.1	37	c.23G>A	CCDS3679.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.652658	0.67472	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313	D;D;D	0.99353	-5.73;-5.77;-5.75	4.36	3.44	0.39384	CTNNB1 binding, N-teminal (1);	0.404229	0.22627	N	0.057624	D	0.99023	0.9666	L	0.56340	1.77	0.49687	D	0.999812	B;B;D	0.89917	0.014;0.014;1.0	B;B;D	0.91635	0.043;0.043;0.999	D	0.98784	1.0733	10	0.72032	D	0.01	-7.6345	12.8936	0.58087	0.1633:0.8367:0.0:0.0	.	8;8;8	Q9UJU2-6;Q9UJU2-5;Q9UJU2	.;.;LEF1_HUMAN	D	8	ENSP00000265165:G8D;ENSP00000369284:G8D;ENSP00000406176:G8D	ENSP00000265165:G8D	G	-	2	0	LEF1	109308350	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.760000	0.47581	1.965000	0.57142	0.467000	0.42956	GGT		0.642	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2			33	83	0	0	0	0	33	83				
ENPEP	2028	broad.mit.edu	37	4	111470910	111470910	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:111470910G>T	ENST00000265162.5	+	17	2711	c.2369G>T	c.(2368-2370)gGg>gTg	p.G790V		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	790					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TATCGGTATGGGATGCAGAAC	0.388																																						uc003iab.3		NA																	0				skin(3)|ovary(1)|breast(1)	5						c.(2368-2370)GGG>GTG		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						121.0	116.0	118.0					4																	111470910		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111470910G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2369G>T	4.37:g.111470910G>T	ENSP00000265162:p.Gly790Val						p.G790V	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	17	2711	+		Hepatocellular(203;0.217)	790			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2369G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714315	0.89112	.	.	ENSG00000138792	ENST00000265162	T	0.04015	3.73	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.26593	0.0650	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03662	-1.1015	10	0.31617	T	0.26	.	18.8559	0.92252	0.0:0.0:1.0:0.0	.	790	Q07075	AMPE_HUMAN	V	790	ENSP00000265162:G790V	ENSP00000265162:G790V	G	+	2	0	ENPEP	111690359	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	9.414000	0.97362	2.466000	0.83321	0.655000	0.94253	GGG		0.388	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			16	62	1	0	2e-07	3.35e-07	16	62				
ANK2	287	broad.mit.edu	37	4	114274328	114274328	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1518	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458																																						uc003ibe.3		NA																	0				central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(4552-4554)ACC>ACA		ankyrin 2 isoform 1							75.0	76.0	76.0					4																	114274328		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114274328C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4554C>A	4.37:g.114274328C>A						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.T1533T	p.T1518T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4654	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1485					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.4554C>A	CCDS3702.1																																																																																				0.458	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		26	70	1	0	9.39e-14	1.78e-13	26	70				
NDNF	79625	broad.mit.edu	37	4	121958113	121958113	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:121958113G>C	ENST00000379692.4	-	4	1539	c.1013C>G	c.(1012-1014)gCc>gGc	p.A338G	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	338					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						CTTCTGTTTGGCTTCTTCCTT	0.438																																						uc003idq.1		NA																	0					0						c.(1012-1014)GCC>GGC		hypothetical protein LOC79625 precursor							158.0	131.0	140.0					4																	121958113		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958113G>C	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.1013C>G	4.37:g.121958113G>C	ENSP00000369014:p.Ala338Gly						p.A338G	NM_024574	NP_078850	Q8TB73	CD031_HUMAN			4	1540	-			338					A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.1013C>G	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	13.71	2.318478	0.40996	.	.	ENSG00000173376	ENST00000379692	T	0.56275	0.47	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.69726	0.3143	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.63037	-0.6726	10	0.30854	T	0.27	-25.4473	20.2441	0.98394	0.0:0.0:1.0:0.0	.	338	Q8TB73	NDNF_HUMAN	G	338	ENSP00000369014:A338G	ENSP00000369014:A338G	A	-	2	0	NDNF	122177563	1.000000	0.71417	0.900000	0.35374	0.916000	0.54674	9.860000	0.99555	2.774000	0.95407	0.655000	0.94253	GCC		0.438	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		22	71	0	0	0	0	22	71				
INPP4B	8821	broad.mit.edu	37	4	142950038	142950038	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:142950038T>C	ENST00000513000.1	-	27	3105	c.2672A>G	c.(2671-2673)aAg>aGg	p.K891R	INPP4B_ENST00000508116.1_Missense_Mutation_p.K891R|INPP4B_ENST00000308502.4_Missense_Mutation_p.K891R|INPP4B_ENST00000262992.4_Missense_Mutation_p.K891R	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	891					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTTGATATTCTTCAGTACATT	0.393																																						uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(2671-2673)AAG>AGG		inositol polyphosphate-4-phosphatase, type II,							132.0	118.0	123.0					4																	142950038		2203	4300	6503	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:142950038T>C	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2672A>G	4.37:g.142950038T>C	ENSP00000425487:p.Lys891Arg					INPP4B_uc003iiw.3_Missense_Mutation_p.K891R|INPP4B_uc011chm.1_RNA	p.K891R	NM_003866	NP_003857	O15327	INP4B_HUMAN			27	3267	-	all_hematologic(180;0.158)		891					Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.2672A>G	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	T	19.97	3.925555	0.73213	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.82	5.82	0.92795	.	0.198842	0.43579	D	0.000554	T	0.69744	0.3145	M	0.87547	2.89	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.75880	-0.3161	10	0.87932	D	0	.	16.1758	0.81851	0.0:0.0:0.0:1.0	.	891	O15327	INP4B_HUMAN	R	891	ENSP00000425487:K891R;ENSP00000262992:K891R;ENSP00000308441:K891R;ENSP00000423954:K891R	ENSP00000262992:K891R	K	-	2	0	INPP4B	143169488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.994000	0.88315	2.225000	0.72522	0.477000	0.44152	AAG		0.393	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		11	31	0	0	0	0	11	31				
INPP4B	8821	broad.mit.edu	37	4	143235901	143235901	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:143235901G>T	ENST00000513000.1	-	9	820	c.387C>A	c.(385-387)gtC>gtA	p.V129V	INPP4B_ENST00000508116.1_Silent_p.V129V|INPP4B_ENST00000509777.1_Silent_p.V129V|INPP4B_ENST00000308502.4_Silent_p.V129V|INPP4B_ENST00000262992.4_Silent_p.V129V	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	129	C2.				cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTTCTGGTAGGACACTGGTTC	0.433																																						uc003iix.3		NA																	0				ovary(1)|lung(1)	2						c.(385-387)GTC>GTA		inositol polyphosphate-4-phosphatase, type II,							129.0	134.0	132.0					4																	143235901		2203	4300	6503	SO:0001819	synonymous_variant	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143235901G>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.387C>A	4.37:g.143235901G>T						INPP4B_uc003iiw.3_Silent_p.V129V|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA	p.V129V	NM_003866	NP_003857	O15327	INP4B_HUMAN			9	982	-	all_hematologic(180;0.158)		129			C2.		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Silent	SNP	ENST00000513000.1	37	c.387C>A	CCDS3757.1																																																																																				0.433	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		36	99	1	0	9.18e-22	1.88e-21	36	99				
GYPB	2994	broad.mit.edu	37	4	144920591	144920591	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:144920591G>T	ENST00000502664.1	-	3	199	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	GYPB_ENST00000429670.2_Missense_Mutation_p.Q50K|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000283126.7_Missense_Mutation_p.Q50K|GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000513128.1_Missense_Mutation_p.Q17K	NM_002100.4	NP_002091	P06028	GLPB_HUMAN	glycophorin B (MNS blood group)	50						integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TGGACAAGTTGTCCCGTTTCT	0.328																																						uc003ijm.1		NA																	0					0						c.(148-150)CAA>AAA		glycophorin B precursor							50.0	55.0	53.0					4																	144920591		2184	4300	6484	SO:0001583	missense	2994					integral to plasma membrane		g.chr4:144920591G>T		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000502664.1:c.148C>A	4.37:g.144920591G>T	ENSP00000427690:p.Gln50Lys					GYPA_uc003ijn.2_Intron|GYPB_uc011chs.1_RNA|GYPB_uc011cht.1_RNA|GYPB_uc011chu.1_RNA|GYPB_uc010ioo.1_RNA|GYPB_uc010iop.2_RNA|GYPB_uc011chv.1_RNA|GYPB_uc011chw.1_RNA|GYPB_uc011chx.1_Intron|GYPB_uc011chy.1_RNA|GYPB_uc011chz.1_RNA	p.Q50K	NM_002100	NP_002091	P06028	GLPB_HUMAN			3	204	-	all_hematologic(180;0.158)		50			Extracellular (Potential).		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000502664.1	37	c.148C>A	CCDS54809.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614345	0.28712	.	.	ENSG00000250361	ENST00000283126;ENST00000502664;ENST00000513128;ENST00000429670	T;T;T;T	0.16196	2.36;2.36;2.36;3.37	1.92	-0.0594	0.13793	.	0.195258	0.25427	N	0.030753	T	0.11965	0.0291	.	.	.	0.09310	N	1	P	0.52061	0.95	B	0.42361	0.385	T	0.18713	-1.0328	9	0.87932	D	0	.	3.1177	0.06380	0.1861:0.2853:0.5287:0.0	.	50	E2QBW7	.	K	50;50;17;50	ENSP00000283126:Q50K;ENSP00000427690:Q50K;ENSP00000425244:Q17K;ENSP00000394200:Q50K	ENSP00000283126:Q50K	Q	-	1	0	GYPB	145140041	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.045000	0.12003	-0.046000	0.13446	0.298000	0.19748	CAA		0.328	GYPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364791.1	NM_002100		4	11	1	0	0.00024832	0.000374451	4	11				
GYPB	2994	broad.mit.edu	37	4	145035886	145035886	+	Intron	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:145035886G>T	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Missense_Mutation_p.P118H|GYPA_ENST00000360771.4_Missense_Mutation_p.P131H|GYPA_ENST00000512789.1_Missense_Mutation_p.P66H|GYPA_ENST00000535709.1_Missense_Mutation_p.P105H|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000504786.1_Missense_Mutation_p.P99H|GYPA_ENST00000503627.1_Missense_Mutation_p.P86H|GYPA_ENST00000324022.10_Missense_Mutation_p.P98H			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					GTCTGTGTCAGGTGAGGGGAG	0.328																																						uc003ijo.3		NA																	0				central_nervous_system(2)	2						c.(391-393)CCT>CAT		glycophorin A precursor							80.0	82.0	81.0					4																	145035886		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145035886G>T		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+25865C>A	4.37:g.145035886G>T						GYPA_uc003ijn.2_Intron|GYPA_uc011cia.1_RNA|GYPA_uc011cib.1_Missense_Mutation_p.P98H|GYPA_uc003ijp.3_Missense_Mutation_p.P99H|GYPA_uc010ioq.2_Missense_Mutation_p.P118H|GYPA_uc010ior.2_Missense_Mutation_p.P66H|GYPA_uc010ios.1_RNA	p.P131H	NM_002099	NP_002090	P02724	GLPA_HUMAN			6	508	-	all_hematologic(180;0.15)		131			Cytoplasmic.		B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.392C>A		.	.	.	.	.	.	.	.	.	.	G	12.49	1.954264	0.34471	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064;ENST00000512789;ENST00000504786;ENST00000503627	T;T;T;T;T;T;T	0.17054	2.3;2.3;2.3;2.3;2.3;2.3;2.3	3.95	-1.83	0.07833	.	2.220050	0.02258	N	0.067326	T	0.17238	0.0414	M	0.62723	1.935	0.09310	N	1	B;B;B;B;B	0.15473	0.004;0.001;0.013;0.004;0.013	B;B;B;B;B	0.15870	0.014;0.002;0.014;0.007;0.014	T	0.35624	-0.9781	10	0.72032	D	0.01	1.3515	0.4119	0.00442	0.1799:0.2233:0.1901:0.4068	.	98;66;118;99;131	B8Q185;Q13030;E9PD10;E7EQF3;P02724	.;.;.;.;GLPA_HUMAN	H	131;98;105;118;66;99;86	ENSP00000354003:P131H;ENSP00000324483:P98H;ENSP00000445398:P105H;ENSP00000426130:P118H;ENSP00000425193:P66H;ENSP00000425549:P99H;ENSP00000421243:P86H	ENSP00000324483:P98H	P	-	2	0	GYPA	145255336	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.333000	0.19768	-0.278000	0.09180	-0.302000	0.09304	CCT		0.328	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		13	31	1	0	7.93e-07	1.31e-06	13	31				
KIAA0922	23240	broad.mit.edu	37	4	154525579	154525579	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:154525579A>T	ENST00000409663.3	+	25	3464	c.3412A>T	c.(3412-3414)Aat>Tat	p.N1138Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.N1055Y|KIAA0922_ENST00000409959.3_Missense_Mutation_p.N1139Y	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1138						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CAGGAAAAATAATGGTAATCT	0.403																																						uc003inm.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(3412-3414)AAT>TAT		hypothetical protein LOC23240 isoform 2							55.0	55.0	55.0					4																	154525579		2180	4263	6443	SO:0001583	missense	23240					integral to membrane		g.chr4:154525579A>T	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.3412A>T	4.37:g.154525579A>T	ENSP00000386574:p.Asn1138Tyr					KIAA0922_uc010ipp.2_Missense_Mutation_p.N1139Y|KIAA0922_uc010ipq.2_Missense_Mutation_p.N907Y	p.N1138Y	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN			25	3464	+	all_hematologic(180;0.093)	Renal(120;0.118)	1138			Cytoplasmic (Potential).		B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.3412A>T	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	12.36	1.915338	0.33815	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.19250	2.43;2.16;2.43;2.17	5.98	0.671	0.17929	.	0.742703	0.13763	N	0.364474	T	0.27169	0.0666	L	0.47716	1.5	0.24198	N	0.995526	D;P;P	0.60575	0.988;0.753;0.5	P;B;B	0.56916	0.809;0.246;0.178	T	0.10497	-1.0627	10	0.66056	D	0.02	-3.9127	4.9064	0.13800	0.4981:0.2765:0.2254:0.0	.	1055;1139;1138	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	Y	1138;1055;1139;916	ENSP00000386574:N1138Y;ENSP00000409663:N1055Y;ENSP00000386787:N1139Y;ENSP00000240487:N916Y	ENSP00000240487:N916Y	N	+	1	0	KIAA0922	154745029	0.288000	0.24324	0.011000	0.14972	0.929000	0.56500	1.172000	0.31908	-0.088000	0.12506	0.533000	0.62120	AAT		0.403	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		9	33	0	0	0	0	9	33				
DCHS2	54798	broad.mit.edu	37	4	155163899	155163899	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:155163899C>A	ENST00000357232.4	-	22	5601	c.5602G>T	c.(5602-5604)Ggg>Tgg	p.G1868W		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1868	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGGGCATCCCTTTATCTGTG	0.383																																						uc003inw.2		NA																	0				ovary(3)|pancreas(1)	4						c.(5602-5604)GGG>TGG		dachsous 2 isoform 1							105.0	99.0	101.0					4																	155163899		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155163899C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.5602G>T	4.37:g.155163899C>A	ENSP00000349768:p.Gly1868Trp						p.G1868W	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	22	5602	-	all_hematologic(180;0.208)	Renal(120;0.0854)	1868			Cadherin 16.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.5602G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359983	0.82353	.	.	ENSG00000197410	ENST00000357232	T	0.68331	-0.32	5.24	5.24	0.73138	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000008	D	0.88496	0.6452	H	0.97131	3.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92202	0.5769	10	0.87932	D	0	.	18.81	0.92054	0.0:1.0:0.0:0.0	.	1868	Q6V1P9	PCD23_HUMAN	W	1868	ENSP00000349768:G1868W	ENSP00000349768:G1868W	G	-	1	0	DCHS2	155383349	1.000000	0.71417	0.502000	0.27614	0.981000	0.71138	6.947000	0.75959	2.602000	0.87976	0.655000	0.94253	GGG		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		14	28	1	0	1.57e-10	2.84e-10	14	28				
FGA	2243	broad.mit.edu	37	4	155505381	155505381	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:155505381G>C	ENST00000302053.3	-	6	2574	c.2496C>G	c.(2494-2496)aaC>aaG	p.N832K		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	832	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CATAAGGACTGTTATTCCTTG	0.498																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NA																	0				ovary(2)|breast(1)	3						c.(2494-2496)AAC>AAG		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						114.0	119.0	118.0					4																	155505381		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155505381G>C		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2496C>G	4.37:g.155505381G>C	ENSP00000306361:p.Asn832Lys						p.N832K	NM_000508	NP_000499	P02671	FIBA_HUMAN			6	2554	-	all_hematologic(180;0.215)	Renal(120;0.0458)	832			Fibrinogen C-terminal.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.2496C>G	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	g	6.466	0.454115	0.12283	.	.	ENSG00000171560	ENST00000302053	T	0.75260	-0.92	5.71	2.09	0.27110	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.245548	0.45867	D	0.000322	T	0.66307	0.2776	N	0.11313	0.125	0.80722	D	1	D	0.67145	0.996	D	0.64595	0.927	T	0.62196	-0.6905	10	0.31617	T	0.26	.	6.9606	0.24595	0.4887:0.0:0.5113:0.0	.	832	P02671	FIBA_HUMAN	K	832	ENSP00000306361:N832K	ENSP00000306361:N832K	N	-	3	2	FGA	155724831	0.704000	0.27836	0.994000	0.49952	0.259000	0.26198	-0.083000	0.11286	0.791000	0.33826	-1.003000	0.02500	AAC		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		34	100	0	0	0	0	34	100				
LRAT	9227	broad.mit.edu	37	4	155665738	155665738	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:155665738G>T	ENST00000336356.3	+	2	513	c.260G>T	c.(259-261)cGc>cTc	p.R87L	LRAT_ENST00000507827.1_Missense_Mutation_p.R87L	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	87					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)	GACATGGGGCGCACGCAGAAG	0.597																																						uc003iom.1		NA																	0				central_nervous_system(1)	1						c.(259-261)CGC>CTC		lecithin retinol acyltransferase	Vitamin A(DB00162)						74.0	74.0	74.0					4																	155665738		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.chr4:155665738G>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.260G>T	4.37:g.155665738G>T	ENSP00000337224:p.Arg87Leu					uc003iol.2_Intron|LRAT_uc003ion.1_Missense_Mutation_p.R87L	p.R87L	NM_004744	NP_004735	O95237	LRAT_HUMAN			1	587	+	all_hematologic(180;0.215)	Renal(120;0.0458)	87			Cytoplasmic (By similarity).		A8K983|Q8N716	Missense_Mutation	SNP	ENST00000336356.3	37	c.260G>T	CCDS3789.1	.	.	.	.	.	.	.	.	.	.	G	1.632	-0.518828	0.04171	.	.	ENSG00000121207	ENST00000507827;ENST00000336356	T;T	0.42900	0.96;0.96	5.54	2.04	0.26737	.	0.642900	0.16085	N	0.230313	T	0.14917	0.0360	N	0.02266	-0.62	0.21184	N	0.999763	B	0.09022	0.002	B	0.08055	0.003	T	0.28933	-1.0028	10	0.11182	T	0.66	-17.6934	7.1669	0.25695	0.1329:0.0:0.4661:0.4009	.	87	O95237	LRAT_HUMAN	L	87	ENSP00000426761:R87L;ENSP00000337224:R87L	ENSP00000337224:R87L	R	+	2	0	LRAT	155885188	0.930000	0.31532	0.572000	0.28498	0.104000	0.19210	0.305000	0.19254	0.501000	0.28013	0.655000	0.94253	CGC		0.597	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365246.1	NM_004744		20	51	1	0	1.56e-12	2.89e-12	20	51				
GUCY1B3	2983	broad.mit.edu	37	4	156696131	156696131	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:156696131A>T	ENST00000264424.8	+	3	171	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	GUCY1B3_ENST00000505154.1_5'UTR|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.Q30L|GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.Q30L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.Q10L|GUCY1B3_ENST00000507146.1_5'UTR	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	30					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAAGAGGCACAGTTAGATGAA	0.318																																						uc003ipc.2		NA																	0					0						c.(88-90)CAG>CTG		guanylate cyclase 1, soluble, beta 3							118.0	116.0	117.0					4																	156696131		1829	4071	5900	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156696131A>T	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.89A>T	4.37:g.156696131A>T	ENSP00000264424:p.Gln30Leu					GUCY1B3_uc011cio.1_Missense_Mutation_p.Q30L|GUCY1B3_uc011cip.1_Missense_Mutation_p.Q10L|GUCY1B3_uc003ipd.2_5'UTR|GUCY1B3_uc010iqf.2_Missense_Mutation_p.Q30L|GUCY1B3_uc010iqg.2_5'UTR|GUCY1B3_uc011ciq.1_5'UTR	p.Q30L	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	3	256	+	all_hematologic(180;0.24)	Renal(120;0.0854)	30					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.89A>T	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123195	0.56613	.	.	ENSG00000061918	ENST00000502959;ENST00000505764;ENST00000264424;ENST00000503520	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.42	5.42	0.78866	Heme-NO binding (1);NO signalling/Golgi transport  ligand-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.29886	0.26;0.165;0.137;0.065	B;B;B;B	0.31495	0.079;0.131;0.047;0.079	T	0.20739	-1.0266	10	0.54805	T	0.06	.	15.8223	0.78667	1.0:0.0:0.0:0.0	.	10;30;30;30	B7Z426;E9PCN2;Q02153-2;Q02153	.;.;.;GCYB1_HUMAN	L	30;10;30;30	ENSP00000426786:Q30L;ENSP00000426319:Q10L;ENSP00000264424:Q30L;ENSP00000420842:Q30L	ENSP00000264424:Q30L	Q	+	2	0	GUCY1B3	156915581	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	8.870000	0.92336	2.188000	0.69820	0.529000	0.55759	CAG		0.318	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2			41	92	0	0	0	0	41	92				
GRIA2	2891	broad.mit.edu	37	4	158256999	158256999	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:158256999G>T	ENST00000264426.9	+	10	1722	c.1443G>T	c.(1441-1443)tgG>tgT	p.W481C	GRIA2_ENST00000393815.2_Missense_Mutation_p.W434C|GRIA2_ENST00000449365.1_Missense_Mutation_p.W434C|GRIA2_ENST00000507898.1_Missense_Mutation_p.W434C|GRIA2_ENST00000296526.7_Missense_Mutation_p.W481C	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	481					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CGAAAATTTGGAATGGGATGG	0.433																																						uc003ipm.3		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1441-1443)TGG>TGT		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						181.0	162.0	169.0					4																	158256999		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158256999G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1443G>T	4.37:g.158256999G>T	ENSP00000264426:p.Trp481Cys					GRIA2_uc011cit.1_Missense_Mutation_p.W434C|GRIA2_uc003ipl.3_Missense_Mutation_p.W481C|GRIA2_uc003ipk.3_Missense_Mutation_p.W434C|GRIA2_uc010iqh.1_RNA	p.W481C	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	10	1902	+	all_hematologic(180;0.24)	Renal(120;0.0458)	481			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1443G>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934992	0.73442	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33	5.86	5.86	0.93980	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.96667	0.8912	H	0.98664	4.295	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.986;0.999;0.997	D	0.97392	0.9990	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	481;481;434	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	C	434;434;481;481;434	ENSP00000426845:W434C;ENSP00000377403:W434C;ENSP00000296526:W481C;ENSP00000264426:W481C;ENSP00000389837:W434C	ENSP00000264426:W481C	W	+	3	0	GRIA2	158476449	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	TGG		0.433	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			5	11	1	0	1.02e-07	1.73e-07	5	11				
TKTL2	84076	broad.mit.edu	37	4	164394427	164394427	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:164394427T>C	ENST00000280605.3	-	1	620	c.460A>G	c.(460-462)Atg>Gtg	p.M154V		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	154						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCATCTCCCATAAGGCAGAAC	0.542																																						uc003iqp.3		NA																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(460-462)ATG>GTG		transketolase-like 2							101.0	102.0	102.0					4																	164394427		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394427T>C	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.460A>G	4.37:g.164394427T>C	ENSP00000280605:p.Met154Val						p.M154V	NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN			1	621	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	154					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.460A>G	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	T	0.094	-1.162877	0.01673	.	.	ENSG00000151005	ENST00000280605	T	0.19532	2.14	4.13	-5.75	0.02384	Transketolase, N-terminal (1);	0.233437	0.36444	N	0.002583	T	0.09423	0.0232	L	0.28458	0.855	0.22280	N	0.999236	B	0.06786	0.001	B	0.17979	0.02	T	0.15867	-1.0422	10	0.25106	T	0.35	-3.3493	3.9824	0.09501	0.1165:0.1611:0.51:0.2124	.	154	Q9H0I9	TKTL2_HUMAN	V	154	ENSP00000280605:M154V	ENSP00000280605:M154V	M	-	1	0	TKTL2	164613877	0.000000	0.05858	0.067000	0.19924	0.161000	0.22273	-1.274000	0.02820	-1.005000	0.03417	-0.313000	0.08912	ATG		0.542	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		30	80	0	0	0	0	30	80				
GALNTL6	442117	broad.mit.edu	37	4	173873316	173873316	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:173873316G>T	ENST00000506823.1	+	10	1935	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	GALNTL6_ENST00000508122.1_Missense_Mutation_p.K409N	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	426					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AGCAGCTCAAGTGCAAGGACT	0.597																																						uc003isv.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1276-1278)AAG>AAT		N-acetylgalactosaminyltransferase-like 6							62.0	61.0	62.0					4																	173873316		2203	4300	6503	SO:0001583	missense	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173873316G>T		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.1278G>T	4.37:g.173873316G>T	ENSP00000423313:p.Lys426Asn						p.K426N	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			10	2014	+			426			Lumenal (Potential).		Q2L4S6	Missense_Mutation	SNP	ENST00000506823.1	37	c.1278G>T	CCDS34104.1	.	.	.	.	.	.	.	.	.	.	g	9.684	1.150042	0.21371	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.69806	-0.43;-0.43	5.36	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	N	0.12422	0.21	0.52099	D	0.999947	B	0.06786	0.001	B	0.06405	0.002	T	0.35351	-0.9792	10	0.21540	T	0.41	.	12.2388	0.54530	0.1349:0.0:0.8651:0.0	.	426	Q49A17	GLTL6_HUMAN	N	426;409	ENSP00000423313:K426N;ENSP00000423827:K409N	ENSP00000423313:K426N	K	+	3	2	GALNTL6	174109891	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.226000	0.32563	2.668000	0.90789	0.478000	0.44815	AAG		0.597	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		15	37	1	0	2.32e-05	3.65e-05	15	37				
WWC2	80014	broad.mit.edu	37	4	184186193	184186193	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:184186193G>T	ENST00000403733.3	+	12	2171	c.1972G>T	c.(1972-1974)Gtg>Ttg	p.V658L	WWC2_ENST00000378925.3_Missense_Mutation_p.V560L|WWC2_ENST00000448232.2_Missense_Mutation_p.V658L|WWC2_ENST00000504005.1_Missense_Mutation_p.V340L|WWC2_ENST00000513834.1_Missense_Mutation_p.V609L	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	658					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AACCACTTGTGTGTCGGCTGC	0.483																																						uc010irx.2		NA																	0				ovary(2)|lung(1)	3						c.(1972-1974)GTG>TTG		WW and C2 domain containing 2							100.0	93.0	95.0					4																	184186193		2203	4300	6503	SO:0001583	missense	80014							g.chr4:184186193G>T	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1972G>T	4.37:g.184186193G>T	ENSP00000384222:p.Val658Leu					WWC2_uc003ivk.3_Missense_Mutation_p.V453L|WWC2_uc003ivl.3_RNA|WWC2_uc010iry.2_Missense_Mutation_p.V340L|WWC2_uc003ivn.3_Missense_Mutation_p.V173L|WWC2_uc010irz.2_5'Flank	p.V658L	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	12	2154	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	658					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Missense_Mutation	SNP	ENST00000403733.3	37	c.1972G>T	CCDS34109.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897417	0.91962	.	.	ENSG00000151718	ENST00000403733;ENST00000378925;ENST00000513834;ENST00000448232;ENST00000504005	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000007	T	0.49881	0.1583	M	0.77486	2.375	0.80722	D	1	D;D	0.67145	0.976;0.996	P;D	0.77557	0.882;0.99	T	0.53521	-0.8427	10	0.72032	D	0.01	-23.846	18.5932	0.91222	0.0:0.0:1.0:0.0	.	658;609	Q6AWC2;Q6AWC2-4	WWC2_HUMAN;.	L	658;560;609;658;340	ENSP00000384222:V658L;ENSP00000368205:V560L;ENSP00000425054:V609L;ENSP00000398577:V658L;ENSP00000427569:V340L	ENSP00000368205:V560L	V	+	1	0	WWC2	184423187	1.000000	0.71417	0.971000	0.41717	0.665000	0.39181	8.862000	0.92283	2.610000	0.88304	0.563000	0.77884	GTG		0.483	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		15	24	1	0	1.52e-12	2.82e-12	15	24				
SORBS2	8470	broad.mit.edu	37	4	186533086	186533086	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:186533086C>T	ENST00000284776.7	-	18	3441	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S	SORBS2_ENST00000393528.3_Missense_Mutation_p.G544S|SORBS2_ENST00000418609.1_Missense_Mutation_p.G882S|SORBS2_ENST00000449407.2_Missense_Mutation_p.G522S|SORBS2_ENST00000431808.1_Missense_Mutation_p.G978S|SORBS2_ENST00000319471.9_Missense_Mutation_p.G609S|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000437304.2_Missense_Mutation_p.G702S|SORBS2_ENST00000448662.2_Missense_Mutation_p.G539S|SORBS2_ENST00000355634.5_Missense_Mutation_p.G1078S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	978	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGGATTTTACCTTCATACCAG	0.398																																					Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	0				ovary(1)	1						c.(2932-2934)GGT>AGT		sorbin and SH3 domain containing 2 isoform 2							179.0	163.0	169.0					4																	186533086		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186533086C>T		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2932G>A	4.37:g.186533086C>T	ENSP00000284776:p.Gly978Ser					SORBS2_uc003iyh.2_Missense_Mutation_p.G702S|SORBS2_uc011ckw.1_Missense_Mutation_p.G539S|SORBS2_uc003iyi.2_Missense_Mutation_p.G609S|SORBS2_uc011ckx.1_Missense_Mutation_p.G544S|SORBS2_uc003iyk.2_Missense_Mutation_p.G522S|SORBS2_uc003iym.2_Missense_Mutation_p.G1078S|SORBS2_uc003iyn.1_Missense_Mutation_p.G569S|SORBS2_uc011cku.1_Missense_Mutation_p.G370S|SORBS2_uc011ckv.1_Missense_Mutation_p.G882S|SORBS2_uc003iyd.2_Missense_Mutation_p.G677S|SORBS2_uc003iye.2_Missense_Mutation_p.G551S|SORBS2_uc003iya.2_Missense_Mutation_p.G498S|SORBS2_uc003iyb.2_Missense_Mutation_p.G451S|SORBS2_uc003iyc.2_Missense_Mutation_p.G431S|SORBS2_uc003iyg.2_Missense_Mutation_p.G1092S|SORBS2_uc003iyf.2_Missense_Mutation_p.G514S|SORBS2_uc003iyo.1_Missense_Mutation_p.G427S	p.G978S	NM_021069	NP_066547	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	18	3790	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	978			SH3 2.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2932G>A	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469875	0.96274	.	.	ENSG00000154556	ENST00000284776;ENST00000448662;ENST00000431808;ENST00000418609;ENST00000437304;ENST00000319471;ENST00000449407;ENST00000355634;ENST00000393528;ENST00000319454	T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.27	5.27	0.74061	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.79287	0.4420	H	0.95539	3.685	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.997;0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.998;0.999;0.998	D	0.85362	0.1108	10	0.87932	D	0	-24.4471	19.0851	0.93200	0.0:1.0:0.0:0.0	.	544;539;882;370;427;569;1078;978;522;702;539;569;523;544	G3XAI0;C9JKV9;B7Z3X6;B7Z997;B3KPU4;O94875-4;B3KPQ7;O94875;E9PAS5;E9PAW4;B7Z1G5;O94875-5;O94875-3;O94875-2	.;.;.;.;.;.;.;SRBS2_HUMAN;.;.;.;.;.;.	S	978;539;978;882;702;609;522;1078;544;569	ENSP00000284776:G978S;ENSP00000409158:G539S;ENSP00000411764:G978S;ENSP00000397482:G882S;ENSP00000396008:G702S;ENSP00000322182:G609S;ENSP00000397262:G522S;ENSP00000347852:G1078S;ENSP00000377162:G544S;ENSP00000321983:G569S	ENSP00000284776:G978S	G	-	1	0	SORBS2	186770080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.736000	0.93811	0.591000	0.81541	GGT		0.398	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		9	41	0	0	0	0	9	41				
ZFP42	132625	broad.mit.edu	37	4	188924241	188924241	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:188924241T>A	ENST00000326866.4	+	4	688	c.280T>A	c.(280-282)Tcc>Acc	p.S94T	ZFP42_ENST00000509524.1_Missense_Mutation_p.S94T	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	94					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACTTTTTGAGTCCTTGGAATA	0.428																																						uc003izg.1		NA																	0				ovary(1)|skin(1)	2						c.(280-282)TCC>ACC		zinc finger protein 42							80.0	84.0	82.0					4																	188924241		2203	4300	6503	SO:0001583	missense	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924241T>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.280T>A	4.37:g.188924241T>A	ENSP00000317686:p.Ser94Thr					ZFP42_uc003izh.1_Missense_Mutation_p.S94T|ZFP42_uc003izi.1_Missense_Mutation_p.S94T	p.S94T	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	525	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	94					D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	c.280T>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	T	4.630	0.117143	0.08881	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.67171	-0.25;-0.25	4.49	1.92	0.25849	.	0.071658	0.53938	U	0.000055	T	0.55194	0.1905	L	0.54323	1.7	0.09310	N	1	B	0.24043	0.096	B	0.15052	0.012	T	0.44559	-0.9320	10	0.35671	T	0.21	.	7.9205	0.29843	0.4951:0.0:0.0:0.5049	.	94	Q96MM3	ZFP42_HUMAN	T	94	ENSP00000317686:S94T;ENSP00000424662:S94T	ENSP00000317686:S94T	S	+	1	0	ZFP42	189161235	0.000000	0.05858	0.119000	0.21687	0.013000	0.08279	-0.177000	0.09796	0.425000	0.26087	0.533000	0.62120	TCC		0.428	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		34	58	0	0	0	0	34	58				
TRIML2	205860	broad.mit.edu	37	4	189018271	189018271	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:189018271G>T	ENST00000512729.1	-	6	913	c.539C>A	c.(538-540)aCa>aAa	p.T180K	TRIML2_ENST00000326754.3_Missense_Mutation_p.T205K	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	180					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ACTCAGGTCTGTGATATGAGC	0.498																																						uc003izl.2		NA																	0				central_nervous_system(2)	2						c.(538-540)ACA>AAA		tripartite motif family-like 2							138.0	131.0	133.0					4																	189018271		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189018271G>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.539C>A	4.37:g.189018271G>T	ENSP00000422581:p.Thr180Lys					TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc011cle.1_Missense_Mutation_p.T255K	p.T180K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	6	575	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	180					B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.539C>A	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365009	0.24684	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.56611	3.57;0.45	4.51	2.78	0.32641	.	0.296508	0.24474	N	0.038215	T	0.45135	0.1327	L	0.50333	1.59	0.58432	D	0.999999	P;B	0.47409	0.895;0.392	B;B	0.41860	0.368;0.125	T	0.30592	-0.9973	10	0.42905	T	0.14	.	9.7649	0.40554	0.1815:0.0:0.8185:0.0	.	205;180	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	K	180;205	ENSP00000422581:T180K;ENSP00000317498:T205K	ENSP00000317498:T205K	T	-	2	0	TRIML2	189255265	0.988000	0.35896	0.899000	0.35326	0.015000	0.08874	0.940000	0.28992	0.420000	0.25954	-0.847000	0.03039	ACA		0.498	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		31	95	1	0	4.75e-14	9.02e-14	31	95				
TRIML1	339976	broad.mit.edu	37	4	189060957	189060957	+	Missense_Mutation	SNP	G	G	T	rs369748946		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:189060957G>T	ENST00000332517.3	+	1	385	c.245G>T	c.(244-246)cGg>cTg	p.R82L	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	82					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGCAGCTCCGGTCCCAGGTG	0.637																																					Melanoma(31;213 1036 16579 23968 32372)	uc003izm.1		NA																	0				ovary(1)|pancreas(1)|breast(1)|skin(1)	4						c.(244-246)CGG>CTG		tripartite motif family-like 1		G	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	46.0	47.0	47.0		245	3.8	0.1	4		47	0,8600		0,0,4300	no	missense	TRIML1	NM_178556.3	102	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	probably-damaging	82/469	189060957	1,13005	2203	4300	6503	SO:0001583	missense	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189060957G>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.245G>T	4.37:g.189060957G>T	ENSP00000327738:p.Arg82Leu						p.R82L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	1	360	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	82					Q96BE5	Missense_Mutation	SNP	ENST00000332517.3	37	c.245G>T	CCDS3851.1	.	.	.	.	.	.	.	.	.	.	G	8.235	0.805446	0.16467	2.27E-4	0.0	ENSG00000184108	ENST00000332517	D	0.83335	-1.71	5.59	3.75	0.43078	.	0.000000	0.56097	D	0.000034	T	0.76550	0.4003	M	0.70275	2.135	0.09310	N	1	P	0.35714	0.517	B	0.30716	0.119	T	0.70189	-0.4940	10	0.48119	T	0.1	-24.3524	5.9259	0.19112	0.0898:0.0:0.6107:0.2995	.	82	Q8N9V2	TRIML_HUMAN	L	82	ENSP00000327738:R82L	ENSP00000327738:R82L	R	+	2	0	TRIML1	189297951	0.046000	0.20272	0.076000	0.20297	0.001000	0.01503	1.569000	0.36428	2.804000	0.96469	0.655000	0.94253	CGG		0.637	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		18	48	1	0	6.94e-10	1.24e-09	18	48				
ADCY2	108	broad.mit.edu	37	5	7789793	7789793	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:7789793C>A	ENST00000338316.4	+	20	2597	c.2508C>A	c.(2506-2508)aaC>aaA	p.N836K	ADCY2_ENST00000537121.1_Missense_Mutation_p.N656K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	836					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATGGAAGAACAAATTCAAAA	0.483																																						uc003jdz.1		NA																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(2506-2508)AAC>AAA		adenylate cyclase 2							106.0	114.0	111.0					5																	7789793		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7789793C>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2508C>A	5.37:g.7789793C>A	ENSP00000342952:p.Asn836Lys					ADCY2_uc011cmo.1_Missense_Mutation_p.N656K|ADCY2_uc010itm.1_Missense_Mutation_p.N32K	p.N836K	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			20	2575	+			836			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2508C>A	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	4.870	0.161698	0.09287	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.80824	-0.94;-1.42	5.43	5.43	0.79202	.	0.102383	0.64402	D	0.000004	T	0.56470	0.1987	N	0.02960	-0.455	0.47374	D	0.9994	B;B	0.11235	0.002;0.004	B;B	0.09377	0.004;0.004	T	0.58120	-0.7692	10	0.02654	T	1	.	14.8264	0.70117	0.0:0.8565:0.1435:0.0	.	656;836	B7Z2C1;Q08462	.;ADCY2_HUMAN	K	836;669;656	ENSP00000342952:N836K;ENSP00000444803:N656K	ENSP00000342952:N836K	N	+	3	2	ADCY2	7842793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.891000	0.39738	2.547000	0.85894	0.591000	0.81541	AAC		0.483	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		26	93	1	0	2.13e-12	3.93e-12	26	93				
DNAH5	1767	broad.mit.edu	37	5	13788868	13788868	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:13788868G>T	ENST00000265104.4	-	51	8708	c.8604C>A	c.(8602-8604)gaC>gaA	p.D2868E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2868					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAATATGTGTCAATTCCAC	0.413									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(8602-8604)GAC>GAA		dynein, axonemal, heavy chain 5							124.0	120.0	121.0					5																	13788868		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13788868G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8604C>A	5.37:g.13788868G>T	ENSP00000265104:p.Asp2868Glu						p.D2868E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			51	8646	-	Lung NSC(4;0.00476)		2868					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.8604C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	1.192	-0.635109	0.03584	.	.	ENSG00000039139	ENST00000265104	T	0.23147	1.92	5.56	-2.33	0.06724	.	0.101693	0.64402	D	0.000004	T	0.13372	0.0324	L	0.27944	0.81	0.36256	D	0.854206	B	0.02656	0.0	B	0.06405	0.002	T	0.45308	-0.9270	10	0.02654	T	1	.	14.82	0.70065	0.728:0.0:0.272:0.0	.	2868	Q8TE73	DYH5_HUMAN	E	2868	ENSP00000265104:D2868E	ENSP00000265104:D2868E	D	-	3	2	DNAH5	13841868	0.000000	0.05858	0.009000	0.14445	0.970000	0.65996	-0.597000	0.05713	-0.357000	0.08175	0.655000	0.94253	GAC		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		26	83	1	0	2.45e-14	4.67e-14	26	83				
DNAH5	1767	broad.mit.edu	37	5	13864714	13864714	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:13864714C>A	ENST00000265104.4	-	28	4492	c.4388G>T	c.(4387-4389)tGg>tTg	p.W1463L	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1463	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAAGCCTGCCAGTCCTTCAA	0.507									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(4387-4389)TGG>TTG		dynein, axonemal, heavy chain 5							58.0	59.0	59.0					5																	13864714		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13864714C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.4388G>T	5.37:g.13864714C>A	ENSP00000265104:p.Trp1463Leu						p.W1463L	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			28	4430	-	Lung NSC(4;0.00476)		1463			Potential.|Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.4388G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	31	5.094640	0.94149	.	.	ENSG00000039139	ENST00000265104	T	0.60424	0.19	5.32	5.32	0.75619	Dynein heavy chain, domain-2 (1);	0.141863	0.53938	D	0.000044	T	0.77491	0.4138	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.78610	-0.2137	10	0.51188	T	0.08	.	19.0581	0.93074	0.0:1.0:0.0:0.0	.	1463	Q8TE73	DYH5_HUMAN	L	1463	ENSP00000265104:W1463L	ENSP00000265104:W1463L	W	-	2	0	DNAH5	13917714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.695000	0.84257	2.488000	0.83962	0.632000	0.83419	TGG		0.507	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		23	51	1	0	9.96e-16	1.94e-15	23	51				
TRIO	7204	broad.mit.edu	37	5	14488346	14488346	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:14488346G>T	ENST00000344204.4	+	48	7633	c.7609G>T	c.(7609-7611)Gtg>Ttg	p.V2537L	TRIO_ENST00000537187.1_Intron|TRIO_ENST00000344135.5_5'Flank	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2537					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGAGCAGTCCGTGCAGTCCAC	0.721																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(7609-7611)GTG>TTG		triple functional domain (PTPRF interacting)																																				SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14488346G>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.7609G>T	5.37:g.14488346G>T	ENSP00000339299:p.Val2537Leu					TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Missense_Mutation_p.V2186L	p.V2537L	NM_007118	NP_009049	O75962	TRIO_HUMAN			48	7615	+	Lung NSC(4;0.000742)		2537					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.7609G>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161649	0.38119	.	.	ENSG00000038382	ENST00000344204;ENST00000513206	T	0.42513	0.97	5.43	5.43	0.79202	.	0.129914	0.51477	D	0.000097	T	0.31949	0.0813	N	0.17082	0.46	0.80722	D	1	B;B	0.29232	0.06;0.238	B;B	0.34722	0.101;0.188	T	0.08973	-1.0696	10	0.10902	T	0.67	.	19.2581	0.93955	0.0:0.0:1.0:0.0	.	2537;2537	O75962-5;O75962	.;TRIO_HUMAN	L	2537;2224	ENSP00000339299:V2537L	ENSP00000339299:V2537L	V	+	1	0	TRIO	14541346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.739000	0.47409	2.547000	0.85894	0.655000	0.94253	GTG		0.721	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		7	14	1	0	8.13e-05	0.000124651	7	14				
CDH10	1008	broad.mit.edu	37	5	24537561	24537561	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:24537561C>A	ENST00000264463.4	-	3	961	c.454G>T	c.(454-456)Gat>Tat	p.D152Y		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	152	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCATTGATATCATGAATTTTG	0.413										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(454-456)GAT>TAT		cadherin 10, type 2 preproprotein							157.0	154.0	155.0					5																	24537561		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537561C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.454G>T	5.37:g.24537561C>A	ENSP00000264463:p.Asp152Tyr	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D152Y	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	786	-			152			Cadherin 1.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.454G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520316	0.85495	.	.	ENSG00000040731	ENST00000264463	T	0.03663	3.85	5.82	5.82	0.92795	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	H	0.99955	5.045	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72164	-0.4373	10	0.87932	D	0	.	19.0796	0.93177	0.0:1.0:0.0:0.0	.	152	Q9Y6N8	CAD10_HUMAN	Y	152	ENSP00000264463:D152Y	ENSP00000264463:D152Y	D	-	1	0	CDH10	24573318	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	7.818000	0.86416	2.758000	0.94735	0.557000	0.71058	GAT		0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		45	100	1	0	2.25e-16	4.43e-16	45	100				
CDH6	1004	broad.mit.edu	37	5	31323216	31323216	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:31323216C>A	ENST00000265071.2	+	12	2439	c.2174C>A	c.(2173-2175)aCg>aAg	p.T725K		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	725					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T725K(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAAAATGACACGGACCCCACT	0.562																																						uc003jhe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(2173-2175)ACG>AAG		cadherin 6, type 2 preproprotein							46.0	48.0	47.0					5																	31323216		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323216C>A	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2174C>A	5.37:g.31323216C>A	ENSP00000265071:p.Thr725Lys						p.T725K	NM_004932	NP_004923	P55285	CADH6_HUMAN			12	2500	+			725			Cytoplasmic (Potential).		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.2174C>A	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	C	7.734	0.699858	0.15106	.	.	ENSG00000113361	ENST00000265071	T	0.75938	-0.98	5.66	2.9	0.33743	Cadherin, cytoplasmic domain (1);	0.792569	0.12311	N	0.480169	T	0.62405	0.2425	L	0.43757	1.38	0.09310	N	0.999999	B	0.18461	0.028	B	0.26416	0.069	T	0.47611	-0.9104	10	0.10636	T	0.68	.	6.5321	0.22332	0.0:0.6625:0.1325:0.2049	.	725	P55285	CADH6_HUMAN	K	725	ENSP00000265071:T725K	ENSP00000265071:T725K	T	+	2	0	CDH6	31358973	0.002000	0.14202	0.997000	0.53966	0.867000	0.49689	0.246000	0.18160	0.859000	0.35456	0.655000	0.94253	ACG		0.562	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		13	35	1	0	0.00010058	0.000153788	13	35				
TARS	6897	broad.mit.edu	37	5	33457373	33457373	+	Silent	SNP	G	G	A	rs113811412		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:33457373G>A	ENST00000265112.3	+	9	1160	c.849G>A	c.(847-849)acG>acA	p.T283T	TARS_ENST00000414361.2_Silent_p.T162T|TARS_ENST00000455217.2_Silent_p.T316T|TARS_ENST00000502553.1_Silent_p.T283T|TARS_ENST00000541634.1_Silent_p.T179T	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	283					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.T283T(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	ATTCCTCCACGTACTGGGAAG	0.388																																						uc003jhy.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(847-849)ACG>ACA		threonyl-tRNA synthetase	L-Threonine(DB00156)						104.0	105.0	105.0					5																	33457373		2203	4300	6503	SO:0001819	synonymous_variant	6897				threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity	g.chr5:33457373G>A	AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.849G>A	5.37:g.33457373G>A						TARS_uc011cob.1_Silent_p.T271T|TARS_uc010iup.1_Silent_p.T224T|TARS_uc011coc.1_Silent_p.T304T|TARS_uc003jhz.2_Silent_p.T179T|TARS_uc011cod.1_Silent_p.T162T	p.T283T	NM_152295	NP_689508	P26639	SYTC_HUMAN			9	1144	+			283					A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Silent	SNP	ENST00000265112.3	37	c.849G>A	CCDS3899.1																																																																																				0.388	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295		11	38	0	0	0	0	11	38				
ADAMTS12	81792	broad.mit.edu	37	5	33643537	33643537	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:33643537A>G	ENST00000504830.1	-	10	1853	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	ADAMTS12_ENST00000352040.3_Silent_p.F506F|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	506	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGAGCGACAAAAGCCCTTCA	0.498										HNSCC(64;0.19)																												uc003jia.1		NA																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1516-1518)TTT>TTC		ADAM metallopeptidase with thrombospondin type 1							148.0	146.0	146.0					5																	33643537		2203	4300	6503	SO:0001819	synonymous_variant	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33643537A>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1518T>C	5.37:g.33643537A>G		HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Silent_p.F506F	p.F506F	NM_030955	NP_112217	P58397	ATS12_HUMAN			10	1681	-			506			Disintegrin.		A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	c.1518T>C	CCDS34140.1																																																																																				0.498	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		28	79	0	0	0	0	28	79				
UGT3A1	133688	broad.mit.edu	37	5	35991303	35991303	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:35991303G>T	ENST00000274278.3	-	1	397	c.40C>A	c.(40-42)Ctt>Att	p.L14I	UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.L14I|UGT3A1_ENST00000503189.1_Missense_Mutation_p.L14I|UGT3A1_ENST00000333811.4_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	14						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCCCAGAAAGAAGGAAGGCC	0.612																																						uc003jjv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(40-42)CTT>ATT		UDP glycosyltransferase 3 family, polypeptide A1							111.0	109.0	110.0					5																	35991303		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35991303G>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.40C>A	5.37:g.35991303G>T	ENSP00000274278:p.Leu14Ile					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.L14I|UGT3A1_uc011cor.1_Missense_Mutation_p.L14I|UGT3A1_uc003jjy.1_Intron	p.L14I	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		1	197	-	all_lung(31;0.000197)		14					G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.40C>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.685943	0.29962	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.70282	-0.06;0.02;-0.47	2.22	0.188	0.15114	.	0.699087	0.10054	U	0.721873	T	0.76328	0.3972	M	0.62723	1.935	0.09310	N	1	P;D;D	0.63880	0.956;0.993;0.993	P;D;D	0.70016	0.899;0.967;0.952	T	0.61043	-0.7142	10	0.38643	T	0.18	.	3.6319	0.08135	0.1642:0.2586:0.5772:0.0	.	14;14;14	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	I	14	ENSP00000274278:L14I;ENSP00000427079:L14I;ENSP00000426100:L14I	ENSP00000274278:L14I	L	-	1	0	UGT3A1	36027060	0.000000	0.05858	0.000000	0.03702	0.376000	0.30014	0.056000	0.14256	0.023000	0.15187	0.313000	0.20887	CTT		0.612	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		33	79	1	0	6.01e-18	1.2e-17	33	79				
RANBP3L	202151	broad.mit.edu	37	5	36260950	36260950	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:36260950C>T	ENST00000296604.3	-	8	1086	c.601G>A	c.(601-603)Gat>Aat	p.D201N	RANBP3L_ENST00000502994.1_Missense_Mutation_p.D226N|RANBP3L_ENST00000515759.1_Missense_Mutation_p.D201N	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	201					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GAACATTTATCTTCATTTGGT	0.249																																						uc003jkh.2		NA																	0				ovary(1)	1						c.(601-603)GAT>AAT		RAN binding protein 3-like isoform 2							22.0	22.0	22.0					5																	36260950		2176	4267	6443	SO:0001583	missense	202151				intracellular transport			g.chr5:36260950C>T	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.601G>A	5.37:g.36260950C>T	ENSP00000296604:p.Asp201Asn					RANBP3L_uc011cow.1_Missense_Mutation_p.D226N	p.D201N	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		8	1094	-	all_lung(31;4.52e-05)		201					B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.601G>A	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.224421	0.58668	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	T;T;T	0.25085	2.12;1.82;2.12	5.13	5.13	0.70059	.	0.442238	0.23017	N	0.052897	T	0.45377	0.1339	M	0.68952	2.095	0.34494	D	0.705247	D;D	0.71674	0.998;0.998	D;P	0.64237	0.923;0.896	T	0.53422	-0.8441	10	0.29301	T	0.29	-2.2457	14.4223	0.67193	0.0:1.0:0.0:0.0	.	226;201	E9PGP9;Q86VV4	.;RNB3L_HUMAN	N	201;226;201	ENSP00000296604:D201N;ENSP00000421853:D226N;ENSP00000421149:D201N	ENSP00000296604:D201N	D	-	1	0	RANBP3L	36296707	1.000000	0.71417	0.996000	0.52242	0.763000	0.43281	2.802000	0.47916	2.525000	0.85131	0.655000	0.94253	GAT		0.249	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		3	10	0	0	0	0	3	10				
C5orf42	65250	broad.mit.edu	37	5	37181062	37181062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:37181062C>A	ENST00000508244.1	-	26	5560	c.5467G>T	c.(5467-5469)Gag>Tag	p.E1823*	C5orf42_ENST00000274258.7_Nonsense_Mutation_p.E704*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.E1823*			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1823						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTCTCCCTCTCAATATTGGGT	0.388																																						uc011cpa.1		NA																	0				ovary(4)|breast(2)|skin(1)	7						c.(5467-5469)GAG>TAG		hypothetical protein LOC65250							74.0	71.0	72.0					5																	37181062		2203	4300	6503	SO:0001587	stop_gained	65250							g.chr5:37181062C>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5467G>T	5.37:g.37181062C>A	ENSP00000421690:p.Glu1823*					C5orf42_uc011coy.1_Nonsense_Mutation_p.E324*|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Nonsense_Mutation_p.E898*	p.E1823*	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		27	5698	-	all_lung(31;0.000616)		1823					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Nonsense_Mutation	SNP	ENST00000508244.1	37	c.5467G>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	C	58	31.656854	0.99979	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	.	.	.	5.91	5.02	0.67125	.	0.957452	0.08564	N	0.927050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	14.1732	0.65525	0.0:0.8499:0.1501:0.0	.	.	.	.	X	1823;1823;704;871;704	.	ENSP00000274258:E704X	E	-	1	0	C5orf42	37216819	0.002000	0.14202	0.009000	0.14445	0.026000	0.11368	0.283000	0.18846	1.476000	0.48215	0.655000	0.94253	GAG		0.388	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		9	33	1	0	4.69e-08	7.99e-08	9	33				
EGFLAM	133584	broad.mit.edu	37	5	38438424	38438424	+	Silent	SNP	C	C	T	rs376336299		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:38438424C>T	ENST00000354891.3	+	17	2677	c.2331C>T	c.(2329-2331)tcC>tcT	p.S777S	EGFLAM_ENST00000397202.2_Silent_p.S143S|EGFLAM_ENST00000322350.5_Silent_p.S777S|EGFLAM_ENST00000336740.6_Silent_p.S543S	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	777	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTTCACCTCCGGAGTGAATG	0.512																																					Colon(62;485 1295 3347 17454)	uc003jlc.1		NA																	0				pancreas(3)|skin(3)|ovary(1)	7						c.(2329-2331)TCC>TCT		EGF-like, fibronectin type III and laminin G		C	,,	1,4405	2.1+/-5.4	0,1,2202	67.0	69.0	68.0		2331,2331,1629	-3.8	0.0	5		68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	EGFLAM	NM_001205301.1,NM_152403.3,NM_182798.2	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	777/1018,777/1010,543/776	38438424	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38438424C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2331C>T	5.37:g.38438424C>T						EGFLAM_uc003jlb.1_Silent_p.S777S|EGFLAM_uc003jle.1_Silent_p.S543S|EGFLAM_uc003jlf.1_Silent_p.S143S	p.S777S	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN			17	2655	+	all_lung(31;0.000385)		777			Laminin G-like 2.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.2331C>T	CCDS56363.1																																																																																				0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		15	43	0	0	0	0	15	43				
C9	735	broad.mit.edu	37	5	39342218	39342218	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:39342218T>A	ENST00000263408.4	-	2	253	c.158A>T	c.(157-159)cAa>cTa	p.Q53L	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	53	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGGATCGCATTGTGACCATTC	0.463																																						uc003jlv.3		NA																	0					0						c.(157-159)CAA>CTA		complement component 9 precursor							176.0	147.0	157.0					5																	39342218		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39342218T>A		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.158A>T	5.37:g.39342218T>A	ENSP00000263408:p.Gln53Leu						p.Q53L	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		2	247	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	53			TSP type-1.			Missense_Mutation	SNP	ENST00000263408.4	37	c.158A>T	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	10.29	1.309636	0.23821	.	.	ENSG00000113600	ENST00000263408	T	0.54675	0.56	5.41	-10.5	0.00291	.	1.689960	0.02920	N	0.137815	T	0.29588	0.0738	N	0.12569	0.235	0.09310	N	1	B	0.30973	0.302	B	0.33121	0.158	T	0.23261	-1.0193	10	0.35671	T	0.21	0.1779	8.4289	0.32746	0.3854:0.0:0.4643:0.1503	.	53	P02748	CO9_HUMAN	L	53	ENSP00000263408:Q53L	ENSP00000263408:Q53L	Q	-	2	0	C9	39377975	0.000000	0.05858	0.000000	0.03702	0.350000	0.29205	-0.081000	0.11321	-1.119000	0.02958	-0.468000	0.05107	CAA		0.463	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			15	66	0	0	0	0	15	66				
SLC38A9	153129	broad.mit.edu	37	5	54945036	54945036	+	Splice_Site	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:54945036T>C	ENST00000396865.2	-	11	1650	c.1059A>G	c.(1057-1059)ccA>ccG	p.P353P	SLC38A9_ENST00000512595.1_Intron|SLC38A9_ENST00000416547.2_Splice_Site_p.P229P|SLC38A9_ENST00000318672.3_Splice_Site_p.P353P|SLC38A9_ENST00000515629.1_Splice_Site_p.P290P|SLC38A9_ENST00000539768.1_Splice_Site_p.P353P	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	353					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAAGCTCACCTGGTACAAAAA	0.303																																						uc003jqf.2		NA																	0					0						c.(1057-1059)CCA>CCG		solute carrier family 38, member 9							34.0	34.0	34.0					5																	54945036		2202	4300	6502	SO:0001630	splice_region_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54945036T>C		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1060+1A>G	5.37:g.54945036T>C						SLC38A9_uc003jqd.2_Silent_p.P290P|SLC38A9_uc010ivx.2_Intron|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Silent_p.P224P	p.P353P	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			11	1260	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	353					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Silent	SNP	ENST00000396865.2	37	c.1059A>G	CCDS3968.1																																																																																				0.303	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514	Silent	6	12	0	0	0	0	6	12				
BDP1	55814	broad.mit.edu	37	5	70819984	70819984	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:70819984G>T	ENST00000358731.4	+	25	5869	c.5606G>T	c.(5605-5607)cGg>cTg	p.R1869L	BDP1_ENST00000380675.2_Missense_Mutation_p.R6L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1869					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1869L(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTGACTCTTCGGGCTTCCCAG	0.468																																						uc003kbp.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(5605-5607)CGG>CTG		transcription factor-like nuclear regulator							115.0	121.0	119.0					5																	70819984		1926	4137	6063	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70819984G>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5606G>T	5.37:g.70819984G>T	ENSP00000351575:p.Arg1869Leu					BDP1_uc003kbo.2_Missense_Mutation_p.R1869L|BDP1_uc003kbq.1_RNA	p.R1869L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	25	5869	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	1869					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.5606G>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880944	0.91740	.	.	ENSG00000145734	ENST00000358731;ENST00000451951;ENST00000380675;ENST00000545546	T;T	0.36520	1.25;1.25	5.47	5.47	0.80525	.	0.073202	0.50627	D	0.000111	T	0.59851	0.2224	M	0.64997	1.995	0.37408	D	0.913119	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65364	-0.6186	10	0.87932	D	0	.	18.4652	0.90752	0.0:0.0:1.0:0.0	.	1869;1869	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	L	1869;1449;6;6	ENSP00000351575:R1869L;ENSP00000370050:R6L	ENSP00000351575:R1869L	R	+	2	0	BDP1	70855740	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.623000	0.74238	2.723000	0.93209	0.655000	0.94253	CGG		0.468	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		36	94	1	0	2.27e-22	4.66e-22	36	94				
TMEM171	134285	broad.mit.edu	37	5	72427521	72427521	+	Silent	SNP	A	A	T	rs370555811		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:72427521A>T	ENST00000454765.2	+	4	1412	c.939A>T	c.(937-939)acA>acT	p.T313T	RP11-232L2.2_ENST00000508255.1_RNA|TMEM171_ENST00000287773.5_Silent_p.T312T			Q8WVE6	TM171_HUMAN	transmembrane protein 171	313						integral component of membrane (GO:0016021)		p.T313T(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		CTGCAGCTACATTCTTGCCTC	0.378																																					NSCLC(112;638 2280 27369 30736)	uc003kcm.2		NA																	1	Substitution - coding silent(1)		prostate(1)		0						c.(937-939)ACA>ACT		transmembrane protein 171 isoform 1		A	,	0,4406		0,0,2203	133.0	130.0	131.0		936,939	-2.6	0.0	5		131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TMEM171	NM_001161342.1,NM_173490.6	,	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	,	312/324,313/325	72427521	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	134285					integral to membrane		g.chr5:72427521A>T	BC018083	CCDS4017.1, CCDS54869.1	5q13.2	2008-02-05			ENSG00000157111	ENSG00000157111			27031	protein-coding gene	gene with protein product						12477932	Standard	NM_173490		Approved	PRP2	uc003kcm.2	Q8WVE6	OTTHUMG00000131269	ENST00000454765.2:c.939A>T	5.37:g.72427521A>T						TMEM171_uc003kcn.3_Silent_p.T312T	p.T313T	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)	4	1143	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	313					Q8N0S1|Q8TDT7	Silent	SNP	ENST00000454765.2	37	c.939A>T	CCDS4017.1																																																																																				0.378	TMEM171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254037.2	NM_173490		37	67	0	0	0	0	37	67				
BHMT2	23743	broad.mit.edu	37	5	78378765	78378765	+	Missense_Mutation	SNP	G	G	A	rs147230129		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:78378765G>A	ENST00000255192.3	+	5	650	c.584G>A	c.(583-585)aGg>aAg	p.R195K	BHMT2_ENST00000521567.1_Missense_Mutation_p.R131K|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	195	Hcy-binding. {ECO:0000255|PROSITE- ProRule:PRU00333}.				L-methionine salvage (GO:0071267)|S-adenosylmethionine metabolic process (GO:0046500)|S-methylmethionine metabolic process (GO:0033477)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|S-methylmethionine-homocysteine S-methyltransferase activity (GO:0061627)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	TGTGCTGTGAGGCTGGTGAAG	0.463																																						uc003kft.2		NA																	0				ovary(1)	1						c.(583-585)AGG>AAG		betaine-homocysteine methyltransferase 2	L-Methionine(DB00134)						234.0	218.0	224.0					5																	78378765		2203	4300	6503	SO:0001583	missense	23743				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78378765G>A		CCDS4045.1, CCDS54871.1	5q13	2010-04-28	2010-04-28		ENSG00000132840	ENSG00000132840	2.1.1.5		1048	protein-coding gene	gene with protein product		605932				11087663, 18230605	Standard	NM_017614		Approved		uc003kft.3	Q9H2M3	OTTHUMG00000108158	ENST00000255192.3:c.584G>A	5.37:g.78378765G>A	ENSP00000255192:p.Arg195Lys					BHMT2_uc011cth.1_Missense_Mutation_p.R131K	p.R195K	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	5	607	+		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)	195			Hcy-binding.		B7Z516|Q9NXX7	Missense_Mutation	SNP	ENST00000255192.3	37	c.584G>A	CCDS4045.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730321	0.48939	.	.	ENSG00000132840	ENST00000255192;ENST00000521567	T;T	0.11169	2.8;2.8	5.62	-4.43	0.03568	Homocysteine S-methyltransferase (4);	0.523212	0.21229	N	0.078010	T	0.09642	0.0237	L	0.49350	1.555	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.23275	0.007;0.045	T	0.41270	-0.9518	10	0.13470	T	0.59	-3.0846	16.2914	0.82755	0.3469:0.0:0.6531:0.0	.	131;195	B7Z516;Q9H2M3	.;BHMT2_HUMAN	K	195;131	ENSP00000255192:R195K;ENSP00000430278:R131K	ENSP00000255192:R195K	R	+	2	0	BHMT2	78414521	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	0.327000	0.19663	-0.532000	0.06332	-0.768000	0.03414	AGG		0.463	BHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226962.2	NM_017614		50	114	0	0	0	0	50	114				
CMYA5	202333	broad.mit.edu	37	5	79034639	79034639	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:79034639C>A	ENST00000446378.2	+	2	10082	c.10051C>A	c.(10051-10053)Cgt>Agt	p.R3351S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3351					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGTTCTGGAGCGTGCAGATGA	0.488																																						uc003kgc.2		NA																	0				ovary(6)|pancreas(2)|lung(1)	9						c.(10051-10053)CGT>AGT		cardiomyopathy associated 5							67.0	69.0	68.0					5																	79034639		2078	4216	6294	SO:0001583	missense	202333					perinuclear region of cytoplasm		g.chr5:79034639C>A	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.10051C>A	5.37:g.79034639C>A	ENSP00000394770:p.Arg3351Ser						p.R3351S	NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	10123	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	3351					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	c.10051C>A	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	1.338	-0.594807	0.03771	.	.	ENSG00000164309	ENST00000446378	T	0.22743	1.94	5.87	0.971	0.19698	.	1.294780	0.05051	N	0.478242	T	0.24314	0.0589	M	0.67953	2.075	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.34453	-0.9828	10	0.87932	D	0	.	5.2635	0.15586	0.3039:0.5169:0.0746:0.1047	.	3351	Q8N3K9	CMYA5_HUMAN	S	3351	ENSP00000394770:R3351S	ENSP00000394770:R3351S	R	+	1	0	CMYA5	79070395	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.729000	0.26028	-0.056000	0.13221	-0.136000	0.14681	CGT		0.488	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610		21	46	1	0	4.35e-09	7.58e-09	21	46				
SERINC5	256987	broad.mit.edu	37	5	79470855	79470855	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:79470855C>T	ENST00000507668.2	-	5	623	c.473G>A	c.(472-474)gGa>gAa	p.G158E	SERINC5_ENST00000512972.2_Missense_Mutation_p.G158E|SERINC5_ENST00000509193.1_Missense_Mutation_p.G158E|SERINC5_ENST00000512721.1_Missense_Mutation_p.G158E|SERINC5_ENST00000513907.1_5'Flank	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	158					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		TCCGACGGCTCCCACATAGCG	0.468																																						uc003kgj.2		NA																	0				ovary(1)	1						c.(472-474)GGA>GAA		developmentally regulated protein TPO1							39.0	39.0	39.0					5																	79470855		1938	4127	6065	SO:0001583	missense	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79470855C>T	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.473G>A	5.37:g.79470855C>T	ENSP00000426237:p.Gly158Glu					SERINC5_uc003kgk.2_Missense_Mutation_p.G158E|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.G158E|SERINC5_uc011ctj.1_Missense_Mutation_p.G158E	p.G158E	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	5	602	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	158			Helical; (Potential).		B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	c.473G>A	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401318	0.83120	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.58637	0.2136	M	0.92970	3.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.69847	-0.5034	10	0.87932	D	0	.	19.0165	0.92897	0.0:1.0:0.0:0.0	.	158;158;158;158	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	E	158;157;158;158;158	ENSP00000426237:G158E;ENSP00000426134:G158E;ENSP00000421665:G158E;ENSP00000420863:G158E	ENSP00000327542:G157E	G	-	2	0	SERINC5	79506611	1.000000	0.71417	0.996000	0.52242	0.608000	0.37181	7.578000	0.82498	2.587000	0.87381	0.655000	0.94253	GGA		0.468	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		5	8	0	0	0	0	5	8				
ANKRD34B	340120	broad.mit.edu	37	5	79855120	79855120	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:79855120G>T	ENST00000338682.3	-	5	1391	c.719C>A	c.(718-720)cCc>cAc	p.P240H		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	240						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GGGGAGCTTGGGCCCCTTAGG	0.527																																						uc010jam.2		NA																	0				pancreas(1)	1						c.(718-720)CCC>CAC		ankyrin repeat domain 34B							40.0	45.0	43.0					5																	79855120		2201	4300	6501	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855120G>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.719C>A	5.37:g.79855120G>T	ENSP00000339802:p.Pro240His					ANKRD34B_uc003kgw.2_Missense_Mutation_p.P240H|ANKRD34B_uc010jan.2_Missense_Mutation_p.P240H	p.P240H	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	1069	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	240					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.719C>A	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	2.518	-0.311396	0.05422	.	.	ENSG00000189127	ENST00000338682	T	0.20200	2.09	5.85	4.98	0.66077	.	0.318638	0.21838	N	0.068369	T	0.18130	0.0435	L	0.56769	1.78	0.09310	N	1	P	0.40660	0.726	B	0.36959	0.237	T	0.16305	-1.0407	10	0.23302	T	0.38	-8.9614	6.7709	0.23593	0.1547:0.1457:0.6996:0.0	.	240	A5PLL1	AN34B_HUMAN	H	240	ENSP00000339802:P240H	ENSP00000339802:P240H	P	-	2	0	ANKRD34B	79890876	0.991000	0.36638	0.329000	0.25429	0.010000	0.07245	2.063000	0.41423	1.477000	0.48234	0.655000	0.94253	CCC		0.527	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		16	48	1	0	1.36e-06	2.23e-06	16	48				
GPR98	84059	broad.mit.edu	37	5	89930999	89930999	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:89930999C>T	ENST00000405460.2	+	10	2004	c.1908C>T	c.(1906-1908)atC>atT	p.I636I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	636					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGGGAAATCTGCAATATTT	0.358																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(1906-1908)ATC>ATT		G protein-coupled receptor 98 precursor							87.0	81.0	83.0					5																	89930999		1818	4082	5900	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89930999C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1908C>T	5.37:g.89930999C>T						GPR98_uc003kjt.2_5'UTR	p.I636I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	10	2004	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	636			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.1908C>T	CCDS47246.1																																																																																				0.358	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		22	71	0	0	0	0	22	71				
GPR98	84059	broad.mit.edu	37	5	89954097	89954097	+	Splice_Site	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:89954097T>A	ENST00000405460.2	+	21	4848		c.e21+2			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATACCAGAGGTAAGTAGTGAG	0.373																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.e21+2		G protein-coupled receptor 98 precursor							64.0	61.0	62.0					5																	89954097		1812	4077	5889	SO:0001630	splice_region_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89954097T>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4752+2T>A	5.37:g.89954097T>A						GPR98_uc003kjt.2_Splice_Site	p.E1584_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	21	4848	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)						O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37	c.4752_splice	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.977019	0.92982	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0573	0.80814	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPR98	89989853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.777000	0.85628	2.191000	0.70037	0.528000	0.53228	.		0.373	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Intron	18	40	0	0	0	0	18	40				
MCTP1	79772	broad.mit.edu	37	5	94353071	94353071	+	Splice_Site	SNP	C	C	A	rs111625916		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:94353071C>A	ENST00000515393.1	-	2	837	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W	MCTP1_ENST00000429576.2_Splice_Site_p.G59W|MCTP1_ENST00000505208.1_Splice_Site_p.G59W|MCTP1_ENST00000312216.8_Splice_Site_p.G59W	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	280	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.G280R(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		ATGCTCTTACCTCCTCGATCT	0.403																																						uc003kkx.2		NA																	1	Substitution - Missense(1)		liver(1)	ovary(2)	2						c.(838-840)GGG>TGG		multiple C2 domains, transmembrane 1 isoform L							145.0	136.0	139.0					5																	94353071		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94353071C>A		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.838+1G>T	5.37:g.94353071C>A						MCTP1_uc003kkv.2_Missense_Mutation_p.G59W|MCTP1_uc003kkw.2_Missense_Mutation_p.G59W|MCTP1_uc003kkz.2_Intron	p.G280W	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	2	838	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	280			C2 1.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.838G>T	CCDS34203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.063172|4.063172	0.76187|0.76187	.|.	.|.	ENSG00000175471|ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000415885;ENST00000507214;ENST00000514780;ENST00000510732;ENST00000505465|ENST00000503301	T;T;T;T;T;T;T;T;T|.	0.74106|.	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;0.56;-0.81|.	5.79|5.79	5.79|5.79	0.91817|0.91817	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91523|0.91523	0.7323|0.7323	H|H	0.99516|0.99516	4.605|4.605	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.94774|0.94774	0.7947|0.7947	9|5	.|.	.|.	.|.	-11.335|-11.335	16.9518|16.9518	0.86247|0.86247	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	280;59;59|.	Q6DN14;Q6DN14-3;Q6DN14-2|.	MCTP1_HUMAN;.;.|.	W|M	280;59;59;59;59;21;41;40;74;59|88	ENSP00000424126:G280W;ENSP00000391639:G59W;ENSP00000308957:G59W;ENSP00000423410:G59W;ENSP00000426438:G59W;ENSP00000424936:G41W;ENSP00000421543:G40W;ENSP00000422219:G74W;ENSP00000422317:G59W|.	.|.	G|R	-|-	1|2	0|0	MCTP1|MCTP1	94378827|94378827	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.744000|0.744000	0.42396|0.42396	4.324000|4.324000	0.59228|0.59228	2.742000|2.742000	0.94016|0.94016	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.403	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Missense_Mutation	28	71	1	0	1.14e-10	2.05e-10	28	71				
ELL2	22936	broad.mit.edu	37	5	95234300	95234300	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:95234300T>A	ENST00000237853.4	-	8	1518	c.1169A>T	c.(1168-1170)cAg>cTg	p.Q390L	ELL2_ENST00000431061.2_Splice_Site	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	390					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		ATTTACAATCTGAGGAGGATG	0.537																																						uc003klr.3		NA																	0				central_nervous_system(1)	1						c.(1168-1170)CAG>CTG		elongation factor, RNA polymerase II, 2							57.0	64.0	62.0					5																	95234300		2203	4300	6503	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95234300T>A	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1169A>T	5.37:g.95234300T>A	ENSP00000237853:p.Gln390Leu						p.Q390L	NM_012081	NP_036213	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	8	1519	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	390					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.1169A>T	CCDS4080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.94|11.94	1.787848|1.787848	0.31593|0.31593	.|.	.|.	ENSG00000118985|ENSG00000118985	ENST00000431061|ENST00000237853	.|T	.|0.22539	.|1.95	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.174327	.|0.52532	.|D	.|0.000064	.|T	.|0.35941	.|0.0949	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	.|D	.|0.57899	.|0.981	.|D	.|0.69824	.|0.966	.|T	.|0.03259	.|-1.1055	.|10	.|0.23891	.|T	.|0.37	.|-0.1471	15.474|15.474	0.75461|0.75461	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|390	.|O00472	.|ELL2_HUMAN	.|L	-1|390	.|ENSP00000237853:Q390L	.|ENSP00000237853:Q390L	.|Q	-|-	.|2	.|0	ELL2|ELL2	95260056|95260056	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.163000|0.163000	0.22366|0.22366	4.971000|4.971000	0.63749|0.63749	2.125000|2.125000	0.65367|0.65367	0.477000|0.477000	0.44152|0.44152	.|CAG		0.537	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		38	79	0	0	0	0	38	79				
FAM174A	345757	broad.mit.edu	37	5	99871504	99871504	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:99871504G>T	ENST00000312637.4	+	1	496	c.270G>T	c.(268-270)ggG>ggT	p.G90G	CTD-2001C12.1_ENST00000499025.1_lincRNA	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	90						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTGTGGCCGGGCTTGAGACGG	0.726																																						uc003knj.1		NA																	0					0						c.(268-270)GGG>GGT		family with sequence similarity 174, member A							14.0	17.0	16.0					5																	99871504		2195	4292	6487	SO:0001819	synonymous_variant	345757					integral to membrane		g.chr5:99871504G>T	AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.270G>T	5.37:g.99871504G>T						uc003kni.2_5'Flank	p.G90G	NM_198507	NP_940909	Q8TBP5	F174A_HUMAN			1	390	+			90			Extracellular (Potential).		A8K0H4	Silent	SNP	ENST00000312637.4	37	c.270G>T	CCDS4090.1																																																																																				0.726	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250631.2	NM_198507		7	13	1	0	8.13e-05	0.000124651	7	13				
SLCO4C1	353189	broad.mit.edu	37	5	101606491	101606491	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:101606491C>T	ENST00000310954.6	-	3	925	c.639G>A	c.(637-639)agG>agA	p.R213R		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGTGCTATTCCTTGTTGTTA	0.333																																						uc003knm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(637-639)AGG>AGA		solute carrier organic anion transporter family,							91.0	86.0	88.0					5																	101606491		2203	4300	6503	SO:0001819	synonymous_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101606491C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.639G>A	5.37:g.101606491C>T							p.R213R	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	3	926	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	213			Extracellular (Potential).			Silent	SNP	ENST00000310954.6	37	c.639G>A	CCDS34205.1																																																																																				0.333	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991		9	35	0	0	0	0	9	35				
SLCO4C1	353189	broad.mit.edu	37	5	101627047	101627047	+	Splice_Site	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:101627047C>T	ENST00000310954.6	-	2	905	c.619G>A	c.(619-621)Gac>Aac	p.D207N		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGAAACTTACCTTCAAAAAGA	0.348																																						uc003knm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1)	4						c.(619-621)GAC>AAC		solute carrier organic anion transporter family,																																				SO:0001630	splice_region_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101627047C>T	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.619+1G>A	5.37:g.101627047C>T							p.D207N	NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	2	906	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	207			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000310954.6	37	c.619G>A	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	8.133	0.783416	0.16189	.	.	ENSG00000173930	ENST00000310954	T	0.38560	1.13	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.265727	0.26220	N	0.025630	T	0.35740	0.0942	L	0.33293	1	0.41091	D	0.985591	B	0.09022	0.002	B	0.11329	0.006	T	0.11299	-1.0593	9	.	.	.	.	19.2358	0.93858	0.0:1.0:0.0:0.0	.	207	Q6ZQN7	SO4C1_HUMAN	N	207	ENSP00000309741:D207N	.	D	-	1	0	SLCO4C1	101654946	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.592000	0.67543	2.521000	0.84997	0.591000	0.81541	GAC		0.348	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	Missense_Mutation	17	45	0	0	0	0	17	45				
PGGT1B	5229	broad.mit.edu	37	5	114573587	114573587	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:114573587C>G	ENST00000419445.1	-	4	467	c.447G>C	c.(445-447)gcG>gcC	p.A149A	PGGT1B_ENST00000379615.3_Silent_p.A149A	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	149					negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|protein geranylgeranylation (GO:0018344)|response to cytokine (GO:0034097)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)	CAAX-protein geranylgeranyltransferase activity (GO:0004662)|protein geranylgeranyltransferase activity (GO:0004661)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)		CTCTCAAGCCCGCTAAGCAAG	0.388																																						uc003kqw.3		NA																	0					0						c.(445-447)GCG>GCC		geranylgeranyltransferase type 1 beta	Pravastatin(DB00175)						75.0	80.0	78.0					5																	114573587		2201	4300	6501	SO:0001819	synonymous_variant	5229				protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity	g.chr5:114573587C>G		CCDS4116.1	5q23.1	2008-02-05			ENSG00000164219	ENSG00000164219			8895	protein-coding gene	gene with protein product		602031				8106351	Standard	NM_005023		Approved	GGTI, BGGI	uc003kqw.4	P53609	OTTHUMG00000128893	ENST00000419445.1:c.447G>C	5.37:g.114573587C>G						PGGT1B_uc003kqx.3_Silent_p.A26A|PGGT1B_uc010jch.2_Silent_p.A149A	p.A149A	NM_005023	NP_005014	P53609	PGTB1_HUMAN		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	4	468	-		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)	149			PFTB 1.		Q5MJP9	Silent	SNP	ENST00000419445.1	37	c.447G>C	CCDS4116.1																																																																																				0.388	PGGT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250855.2	NM_005023		26	75	0	0	0	0	26	75				
TICAM2	353376	broad.mit.edu	37	5	114916308	114916308	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:114916308T>C	ENST00000427199.2	-	2	1087	c.646A>G	c.(646-648)Aag>Gag	p.K216E	TICAM2_ENST00000513729.1_5'Flank|TMED7-TICAM2_ENST00000333314.3_3'UTR|TICAM2_ENST00000408996.4_Missense_Mutation_p.K385E|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.K385E	NM_021649.6	NP_067681.1	Q86XR7	TCAM2_HUMAN	toll-like receptor adaptor molecule 2	216	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to lipopolysaccharide (GO:0071222)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18-mediated signaling pathway (GO:2000494)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|response to interleukin-12 (GO:0070671)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			cervix(1)|kidney(1)|lung(2)|soft_tissue(1)	5		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;4.38e-07)|Epithelial(69;1.62e-06)|all cancers(49;6.93e-05)		TGTTGTGTCTTATACACAGAC	0.378																																						uc003krd.2		NA																	0					0						c.(646-648)AAG>GAG		toll-like receptor adaptor molecule 2							72.0	75.0	74.0					5																	114916308		2202	4300	6502	SO:0001583	missense	100302736				I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chr5:114916308T>C	AY232653	CCDS4119.1	5q22.3	2012-11-21			ENSG00000243414	ENSG00000243414			21354	protein-coding gene	gene with protein product		608321					Standard	NM_021649		Approved	TRAM, TICAM-2, TIRP		Q86XR7	OTTHUMG00000162905	ENST00000427199.2:c.646A>G	5.37:g.114916308T>C	ENSP00000415139:p.Lys216Glu					TMED7-TICAM2_uc003kre.2_Missense_Mutation_p.K385E|TICAM2_uc003krc.2_Missense_Mutation_p.K216E	p.K216E	NM_021649	NP_067681	Q86XR7	TCAM2_HUMAN			4	1652	-			216			TIR.		B3Y698|Q6JUT2	Missense_Mutation	SNP	ENST00000427199.2	37	c.646A>G	CCDS4119.1	.	.	.	.	.	.	.	.	.	.	T	9.847	1.192676	0.21954	.	.	ENSG00000243414;ENSG00000243414;ENSG00000251201	ENST00000408996;ENST00000427199;ENST00000282382	T;T;T	0.44881	0.91;0.91;0.91	5.92	-1.25	0.09405	Toll/interleukin-1 receptor homology (TIR) domain (1);	0.787289	0.11707	N	0.537333	T	0.15696	0.0378	N	0.04508	-0.205	0.20873	N	0.999837	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.28964	-1.0027	10	0.13470	T	0.59	.	5.4523	0.16572	0.0:0.2497:0.2572:0.493	.	385;216	Q6JUT2;Q86XR7	.;TCAM2_HUMAN	E	385;216;385	ENSP00000386341:K385E;ENSP00000415139:K216E;ENSP00000282382:K385E	ENSP00000415139:K216E	K	-	1	0	TICAM2;TMED7-TICAM2	114944207	0.643000	0.27269	0.634000	0.29324	0.955000	0.61496	0.166000	0.16583	-0.086000	0.12550	0.477000	0.44152	AAG		0.378	TICAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338755.1	NM_021649		17	44	0	0	0	0	17	44				
LVRN	206338	broad.mit.edu	37	5	115336169	115336169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:115336169G>T	ENST00000357872.4	+	8	1679	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*	AQPEP_ENST00000395528.2_Nonsense_Mutation_p.E36*	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		519						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										TTTCTTGAATGAGCATTTATT	0.378																																						uc003kro.2		NA																	0					0						c.(1555-1557)GAG>TAG		laeverin							161.0	153.0	156.0					5																	115336169		2202	4300	6502	SO:0001587	stop_gained	206338				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115336169G>T																												ENST00000357872.4:c.1555G>T	5.37:g.115336169G>T	ENSP00000350541:p.Glu519*					AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA	p.E519*	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN			8	1719	+			519			Lumenal (Potential).		A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Nonsense_Mutation	SNP	ENST00000357872.4	37	c.1555G>T	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	39	7.556808	0.98355	.	.	ENSG00000172901	ENST00000395528;ENST00000357872;ENST00000379578	.	.	.	5.72	3.91	0.45181	.	0.253032	0.32719	N	0.005735	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	10.8053	0.46514	0.073:0.1356:0.7913:0.0	.	.	.	.	X	36;519;508	.	ENSP00000350541:E519X	E	+	1	0	AC010282.1	115364068	1.000000	0.71417	0.015000	0.15790	0.942000	0.58702	3.588000	0.53964	0.854000	0.35336	-0.143000	0.13931	GAG		0.378	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			30	87	1	0	9.66e-10	1.72e-09	30	87				
FTMT	94033	broad.mit.edu	37	5	121187730	121187730	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:121187730C>T	ENST00000321339.1	+	1	81	c.72C>T	c.(70-72)tgC>tgT	p.C24C		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	24					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGTGCGCTGCTGCTTCGCGC	0.731																																						uc003kss.2		NA																	0				ovary(1)	1						c.(70-72)TGC>TGT		ferritin mitochondrial precursor							14.0	17.0	16.0					5																	121187730		2197	4284	6481	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187730C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.72C>T	5.37:g.121187730C>T							p.C24C	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	81	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	24						Silent	SNP	ENST00000321339.1	37	c.72C>T	CCDS4128.1																																																																																				0.731	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		4	34	0	0	0	0	4	34				
FBN2	2201	broad.mit.edu	37	5	127671152	127671152	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:127671152C>T	ENST00000508053.1	-	35	4816	c.3842G>A	c.(3841-3843)tGt>tAt	p.C1281Y	FBN2_ENST00000508989.1_Missense_Mutation_p.C1248Y|FBN2_ENST00000507835.1_Missense_Mutation_p.C131Y|FBN2_ENST00000262464.4_Missense_Mutation_p.C1281Y			P35556	FBN2_HUMAN	fibrillin 2	1281	EGF-like 19; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TATACCTGCACACGATCTCCC	0.433																																						uc003kuu.2		NA																	0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(3841-3843)TGT>TAT		fibrillin 2 precursor							159.0	153.0	155.0					5																	127671152		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127671152C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.3842G>A	5.37:g.127671152C>T	ENSP00000424571:p.Cys1281Tyr					FBN2_uc003kuv.2_Missense_Mutation_p.C1248Y	p.C1281Y	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	29	4281	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1281			EGF-like 19; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.3842G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475113	0.84640	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000507835;ENST00000508989	D;D;D;D	0.99948	-8.68;-8.68;-8.68;-8.68	5.24	5.24	0.73138	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	D	0.99964	0.9986	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	D	0.96661	0.9489	10	0.72032	D	0.01	.	19.3787	0.94523	0.0:1.0:0.0:0.0	.	1248;1281	D6RJI3;P35556	.;FBN2_HUMAN	Y	1281;1281;131;1248	ENSP00000262464:C1281Y;ENSP00000424571:C1281Y;ENSP00000426839:C131Y;ENSP00000425596:C1248Y	ENSP00000262464:C1281Y	C	-	2	0	FBN2	127699051	1.000000	0.71417	0.994000	0.49952	0.817000	0.46193	7.609000	0.82925	2.884000	0.98904	0.655000	0.94253	TGT		0.433	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		26	98	0	0	0	0	26	98				
RAD50	10111	broad.mit.edu	37	5	131953939	131953939	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:131953939A>T	ENST00000265335.6	+	21	3729	c.3342A>T	c.(3340-3342)acA>acT	p.T1114T	RAD50_ENST00000378823.3_Silent_p.T975T			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1114					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGGACAACAGAACTTGTGA	0.318								Homologous recombination																														uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(3340-3342)ACA>ACT	Homologous_recombination	RAD50 homolog isoform 1							82.0	90.0	87.0					5																	131953939		2202	4300	6502	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131953939A>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.3342A>T	5.37:g.131953939A>T						RAD50_uc003kxh.2_Silent_p.T975T	p.T1114T	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		21	3729	+		all_cancers(142;0.0368)|Breast(839;0.198)	1114					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.3342A>T	CCDS34233.1																																																																																				0.318	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		26	57	0	0	0	0	26	57				
IL13	3596	broad.mit.edu	37	5	131993925	131993925	+	Missense_Mutation	SNP	C	C	A	rs376870298		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:131993925C>A	ENST00000304506.3	+	1	61	c.47C>A	c.(46-48)gCg>gAg	p.A16E	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_Intron|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000458509.1_RNA	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	16					cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cellular response to cytokine stimulus (GO:0071345)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of lung ciliated cell differentiation (GO:1901247)|negative regulation of transforming growth factor beta production (GO:0071635)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of connective tissue growth factor production (GO:0032723)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of lung goblet cell differentiation (GO:1901251)|positive regulation of macrophage activation (GO:0043032)|positive regulation of pancreatic stellate cell proliferation (GO:2000231)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat6 protein (GO:0042526)|regulation of proton transport (GO:0010155)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCCTCATGGCGCTTTTGTTG	0.592											OREG0003464	type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc003kxj.1		NA																	0				ovary(1)|skin(1)	2						c.(46-48)GCG>GAG		interleukin 13 precursor							134.0	105.0	114.0					5																	131993925		2203	4300	6503	SO:0001583	missense	3596				cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity	g.chr5:131993925C>A	U31120	CCDS4157.1	5q31	2011-07-14			ENSG00000169194	ENSG00000169194		"""Interleukins and interleukin receptors"""	5973	protein-coding gene	gene with protein product	"""allergic rhinitis"", ""Bronchial hyperresponsiveness-1 (bronchial asthma)"""	147683					Standard	NM_002188		Approved	P600, IL-13, ALRH, BHR1, MGC116786, MGC116788, MGC116789	uc003kxj.1	P35225	OTTHUMG00000059723	ENST00000304506.3:c.47C>A	5.37:g.131993925C>A	ENSP00000304915:p.Ala16Glu		OREG0003464	type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1592		p.A16E	NM_002188	NP_002179	P35225	IL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	61	+		all_cancers(142;0.0751)|Breast(839;0.198)	16					O43644|Q4VB52|Q9UDC7	Missense_Mutation	SNP	ENST00000304506.3	37	c.47C>A	CCDS4157.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893646	0.52121	.	.	ENSG00000169194	ENST00000304506	T	0.59906	0.23	5.13	5.13	0.70059	.	0.334286	0.25759	N	0.028483	T	0.71995	0.3406	L	0.57536	1.79	0.38443	D	0.946761	D	0.89917	1.0	D	0.97110	1.0	T	0.75414	-0.3326	10	0.87932	D	0	-24.6384	14.2644	0.66107	0.0:1.0:0.0:0.0	.	16	P35225	IL13_HUMAN	E	16	ENSP00000304915:A16E	ENSP00000304915:A16E	A	+	2	0	IL13	132021824	0.983000	0.35010	0.998000	0.56505	0.409000	0.31022	3.347000	0.52200	2.824000	0.97209	0.655000	0.94253	GCG		0.592	IL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132782.1	NM_002188		18	51	1	0	5.04e-11	9.14e-11	18	51				
TGFBI	7045	broad.mit.edu	37	5	135394834	135394834	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:135394834G>T	ENST00000442011.2	+	13	1895	c.1734G>T	c.(1732-1734)ctG>ctT	p.L578L	TGFBI_ENST00000305126.8_Silent_p.L578L|TGFBI_ENST00000508076.1_5'UTR	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	578	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAAATCCTGGTTAGCGGAG	0.502																																						uc003lbf.3		NA																	0				breast(3)|ovary(1)	4						c.(1732-1734)CTG>CTT		transforming growth factor, beta-induced, 68kDa							41.0	41.0	41.0					5																	135394834		1937	4136	6073	SO:0001819	synonymous_variant	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135394834G>T	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1734G>T	5.37:g.135394834G>T						TGFBI_uc003lbg.3_Silent_p.L311L|TGFBI_uc003lbh.3_Silent_p.L404L|TGFBI_uc011cyb.1_Silent_p.L404L|TGFBI_uc010jed.2_Silent_p.L311L|TGFBI_uc010jee.2_5'Flank	p.L578L	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		13	1895	+			578			FAS1 4.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	c.1734G>T	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	G	9.409	1.080081	0.20309	.	.	ENSG00000120708	ENST00000514554	.	.	.	5.52	4.65	0.58169	.	.	.	.	.	T	0.72724	0.3496	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72909	-0.4149	4	.	.	.	-9.2734	16.83	0.85941	0.0:0.1287:0.8713:0.0	.	.	.	.	C	296	.	.	G	+	1	0	TGFBI	135422733	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.515000	0.45512	1.466000	0.48025	-0.150000	0.13652	GGT		0.502	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			10	18	1	0	5.17e-11	9.37e-11	10	18				
WNT8A	7478	broad.mit.edu	37	5	137419813	137419813	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:137419813G>C	ENST00000398754.1	+	1	40	c.35G>C	c.(34-36)gGc>gCc	p.G12A	WNT8A_ENST00000506684.1_5'UTR	NM_058244.2	NP_490645.1	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	12					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:0061317)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|endoderm development (GO:0007492)|establishment of organ orientation (GO:0048561)|neural crest cell fate commitment (GO:0014034)|neuron differentiation (GO:0030182)|palate development (GO:0060021)|polarity specification of anterior/posterior axis (GO:0009949)|polarity specification of proximal/distal axis (GO:0010085)|regulation of protein localization (GO:0032880)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|response to retinoic acid (GO:0032526)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAGCTCTGGGCATATGCTGT	0.587																																						uc003lcd.1		NA																	0				ovary(1)|lung(1)|breast(1)|skin(1)	4						c.(34-36)GGC>GCC		wingless-type MMTV integration site family,							109.0	116.0	114.0					5																	137419813		2075	4215	6290	SO:0001583	missense	7478				brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity	g.chr5:137419813G>C	AB057725	CCDS43368.1, CCDS75311.1	5q31	2008-07-18			ENSG00000061492	ENSG00000061492		"""Wingless-type MMTV integration sites"""	12788	protein-coding gene	gene with protein product		606360				11408932	Standard	XM_005272076		Approved	WNT8D	uc003lcd.1	Q9H1J5	OTTHUMG00000129196	ENST00000398754.1:c.35G>C	5.37:g.137419813G>C	ENSP00000381739:p.Gly12Ala					BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_5'UTR|WNT8A_uc011cyk.1_5'UTR	p.G12A	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		1	40	+			12					Q96S51	Missense_Mutation	SNP	ENST00000398754.1	37	c.35G>C	CCDS43368.1	.	.	.	.	.	.	.	.	.	.	G	1.960	-0.439183	0.04636	.	.	ENSG00000061492	ENST00000398754	T	0.74315	-0.83	5.61	3.74	0.42951	.	1.506000	0.03274	N	0.185221	T	0.61211	0.2329	N	0.25647	0.755	0.29920	N	0.822839	B	0.06786	0.001	B	0.06405	0.002	T	0.49322	-0.8952	10	0.12430	T	0.62	.	5.3009	0.15778	0.069:0.1261:0.5444:0.2604	.	12	Q9H1J5	WNT8A_HUMAN	A	12	ENSP00000381739:G12A	ENSP00000354726:G12A	G	+	2	0	WNT8A	137447712	0.974000	0.33945	0.856000	0.33681	0.167000	0.22549	0.611000	0.24268	0.656000	0.30886	0.655000	0.94253	GGC		0.587	WNT8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280395.1	NM_058244		13	38	0	0	0	0	13	38				
PCDHA1	56147	broad.mit.edu	37	5	140167848	140167848	+	Missense_Mutation	SNP	C	C	G	rs564427730		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140167848C>G	ENST00000504120.2	+	1	1973	c.1973C>G	c.(1972-1974)gCg>gGg	p.A658G	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A658G	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	658	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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCCGGCGCTGACAGCC	0.667																																						uc003lhb.2		NA																	0				skin(1)	1						c.(1972-1974)GCG>GGG		protocadherin alpha 1 isoform 1 precursor							45.0	50.0	48.0					5																	140167848		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167848C>G	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1973C>G	5.37:g.140167848C>G	ENSP00000420840:p.Ala658Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A658G	p.A658G	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1973	+			658			Cadherin 6.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1973C>G	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	10.98	1.505035	0.26949	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.50001	0.76;0.76	3.89	-0.269	0.12930	Cadherin (4);Cadherin-like (1);	0.990599	0.08171	U	0.986914	T	0.42877	0.1222	L	0.41710	1.295	0.09310	N	1	P;P	0.49358	0.923;0.865	P;P	0.50570	0.644;0.511	T	0.33752	-0.9856	10	0.87932	D	0	.	1.8419	0.03151	0.1386:0.4693:0.1356:0.2565	.	658;658	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	G	658	ENSP00000420840:A658G;ENSP00000367373:A658G	ENSP00000367373:A658G	A	+	2	0	PCDHA1	140148032	0.001000	0.12720	0.517000	0.27799	0.045000	0.14185	1.458000	0.35223	-0.052000	0.13311	-0.145000	0.13849	GCG		0.667	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		19	81	0	0	0	0	19	81				
PCDHA1	56147	broad.mit.edu	37	5	140167951	140167951	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140167951G>A	ENST00000504120.2	+	1	2076	c.2076G>A	c.(2074-2076)gcG>gcA	p.A692A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Silent_p.A692A	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	692					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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGGCGGCGCTGGTGGATG	0.662																																						uc003lhb.2		NA																	0				skin(1)	1						c.(2074-2076)GCG>GCA		protocadherin alpha 1 isoform 1 precursor							48.0	49.0	48.0					5																	140167951		2202	4299	6501	SO:0001819	synonymous_variant	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167951G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2076G>A	5.37:g.140167951G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Silent_p.A692A	p.A692A	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2076	+			692			Extracellular (Potential).		O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.2076G>A	CCDS54913.1																																																																																				0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		24	67	0	0	0	0	24	67				
PCDHA3	56145	broad.mit.edu	37	5	140182402	140182402	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140182402G>T	ENST00000522353.2	+	1	1620	c.1620G>T	c.(1618-1620)gcG>gcT	p.A540A	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.A540A	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGATGCGGGCGTGCCGC	0.672																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(1618-1620)GCG>GCT		protocadherin alpha 3 isoform 1 precursor							85.0	87.0	86.0					5																	140182402		2203	4298	6501	SO:0001819	synonymous_variant	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182402G>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1620G>T	5.37:g.140182402G>T						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.A540A	p.A540A	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1620	+			540			Cadherin 5.|Extracellular (Potential).		O75286	Silent	SNP	ENST00000522353.2	37	c.1620G>T	CCDS54915.1																																																																																				0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		50	131	1	0	4.45e-29	9.33e-29	50	131				
PCDHA3	56145	broad.mit.edu	37	5	140182502	140182502	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140182502G>A	ENST00000522353.2	+	1	1720	c.1720G>A	c.(1720-1722)Ggt>Agt	p.G574S	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.G574S	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	574					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCATCGGTGGCGCAGT	0.682																																						uc003lhf.2		NA																	0				ovary(6)|skin(2)	8						c.(1720-1722)GGT>AGT		protocadherin alpha 3 isoform 1 precursor							87.0	86.0	86.0					5																	140182502		2203	4299	6502	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140182502G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1720G>A	5.37:g.140182502G>A	ENSP00000429808:p.Gly574Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G574S	p.G574S	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1720	+			574			Extracellular (Potential).		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1720G>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	g	2.493	-0.317081	0.05386	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53206	0.68;0.63	2.78	-2.85	0.05734	Cadherin-like (1);	24.226200	0.00664	U	0.000605	T	0.32971	0.0847	L	0.33792	1.035	0.09310	N	1	B;B	0.24426	0.103;0.029	B;B	0.24394	0.053;0.006	T	0.13045	-1.0524	10	0.46703	T	0.11	.	0.7971	0.01068	0.1519:0.1901:0.2951:0.3629	.	574;574	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	S	574	ENSP00000429808:G574S;ENSP00000434086:G574S	ENSP00000429808:G574S	G	+	1	0	PCDHA3	140162686	0.000000	0.05858	0.000000	0.03702	0.260000	0.26232	-0.571000	0.05889	-0.344000	0.08338	0.313000	0.20887	GGT		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		44	86	0	0	0	0	44	86				
PCDHA5	56143	broad.mit.edu	37	5	140203532	140203532	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140203532G>T	ENST00000529859.1	+	1	2172	c.2172G>T	c.(2170-2172)gcG>gcT	p.A724A	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.A724A|PCDHA5_ENST00000378126.3_Silent_p.A724A	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	724					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)			GGTGCTCGGCGCAGCCCACCG	0.657																																						uc003lhl.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2170-2172)GCG>GCT		protocadherin alpha 5 isoform 1 precursor							54.0	51.0	52.0					5																	140203532		2201	4298	6499	SO:0001819	synonymous_variant	56143				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140203532G>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.2172G>T	5.37:g.140203532G>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.A724A|PCDHA5_uc003lhj.1_Silent_p.A724A	p.A724A	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2172	+			724			Cytoplasmic (Potential).		O75284|Q8N4R3	Silent	SNP	ENST00000529859.1	37	c.2172G>T	CCDS54917.1																																																																																				0.657	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		20	63	1	0	2.39e-15	4.64e-15	20	63				
PCDHA10	56139	broad.mit.edu	37	5	140237321	140237321	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140237321C>G	ENST00000307360.5	+	1	1688	c.1688C>G	c.(1687-1689)gCg>gGg	p.A563G	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	563	Cadherin 5. {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)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGCTCCCGCGCTGCTGGCG	0.687																																						uc003lhx.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(1687-1689)GCG>GGG		protocadherin alpha 10 isoform 1 precursor							23.0	24.0	24.0					5																	140237321		1319	2285	3604	SO:0001583	missense	56139				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140237321C>G	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1688C>G	5.37:g.140237321C>G	ENSP00000304234:p.Ala563Gly					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.A563G	p.A563G	NM_018901	NP_061724	Q9Y5I2	PCDAA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1688	+			563			Cadherin 5.|Extracellular (Potential).		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1688C>G	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	2.789	-0.251811	0.05829	.	.	ENSG00000250120	ENST00000307360	T	0.38560	1.13	3.68	1.78	0.24846	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.45597	0.1350	M	0.77103	2.36	0.09310	N	1	P;P	0.46987	0.888;0.471	P;B	0.49332	0.607;0.246	T	0.38672	-0.9650	9	0.39692	T	0.17	.	0.7379	0.00968	0.331:0.3017:0.1922:0.1751	.	563;563	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	G	563	ENSP00000304234:A563G	ENSP00000304234:A563G	A	+	2	0	PCDHA10	140217505	0.000000	0.05858	0.491000	0.27477	0.056000	0.15407	-2.388000	0.01059	0.295000	0.22570	-0.500000	0.04577	GCG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		25	20	0	0	0	0	25	20				
PCDHA12	56137	broad.mit.edu	37	5	140255363	140255364	+	Nonsense_Mutation	DNP	CA	CA	AG			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140255363_140255364CA>AG	ENST00000398631.2	+	1	306_307	c.306_307CA>AG	c.(304-309)tgCAgt>tgAGgt	p.102_103CS>*G	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	102	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)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTGCAGTATCCACCT	0.554																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	0					0						c.(304-309)TGCAGT>TGAGGT		protocadherin alpha 12 isoform 1 precursor																																				SO:0001587	stop_gained	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140255363_140255364CA>AG	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	Exception_encountered	5.37:g.140255363_140255364delinsAG	ENSP00000381628:p.C102_S103delins*G					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Nonsense_Mutation_p.102_103CS>*G	p.102_103CS>*G	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	433_434	+			102_103			Cadherin 1.|Extracellular (Potential).		O75278|Q2M1N8	Nonsense_Mutation	DNP	ENST00000398631.2	37	c.306_307CA>AG	CCDS47285.1																																																																																				0.554	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		73	186	0	0	0	0	73	186				
PCDHAC2	56134	broad.mit.edu	37	5	140346602	140346602	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140346602C>A	ENST00000289269.5	+	1	783	c.251C>A	c.(250-252)gCg>gAg	p.A84E	PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	84	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTGGGTGCGCCCAGTCCG	0.697																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2		NA																	0				ovary(2)|skin(2)	4						c.(250-252)GCG>GAG		protocadherin alpha subfamily C, 2 isoform 1							23.0	25.0	24.0					5																	140346602		2203	4298	6501	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346602C>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.251C>A	5.37:g.140346602C>A	ENSP00000289269:p.Ala84Glu					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.A84E	p.A84E	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	491	+			84			Cadherin 1.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.251C>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340451	0.41498	.	.	ENSG00000243232	ENST00000289269	T	0.36699	1.24	5.57	4.68	0.58851	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.175533	0.27379	N	0.019627	T	0.11495	0.0280	N	0.00793	-1.18	0.09310	N	1	B;P	0.38992	0.0;0.653	B;B	0.36504	0.008;0.226	T	0.03184	-1.1063	10	0.66056	D	0.02	.	5.7329	0.18051	0.1444:0.6411:0.1392:0.0753	.	84;84	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	E	84	ENSP00000289269:A84E	ENSP00000289269:A84E	A	+	2	0	PCDHAC2	140326786	0.489000	0.26004	0.935000	0.37517	0.996000	0.88848	0.878000	0.28126	1.298000	0.44778	0.561000	0.74099	GCG		0.697	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		11	28	1	0	4.38e-07	7.3e-07	11	28				
PCDHB1	29930	broad.mit.edu	37	5	140433332	140433332	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140433332A>T	ENST00000306549.3	+	1	2354	c.2277A>T	c.(2275-2277)tcA>tcT	p.S759S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	759					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATGTGTTCAGCCACTGGCA	0.443																																						uc003lik.1		NA																	0					0						c.(2275-2277)TCA>TCT		protocadherin beta 1 precursor							122.0	124.0	123.0					5																	140433332		2203	4300	6503	SO:0001819	synonymous_variant	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433332A>T	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2277A>T	5.37:g.140433332A>T							p.S759S	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2354	+			759			Cytoplasmic (Potential).		Q2M257	Silent	SNP	ENST00000306549.3	37	c.2277A>T	CCDS4243.1																																																																																				0.443	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		6	92	0	0	0	0	6	92				
PCDHB2	56133	broad.mit.edu	37	5	140474516	140474516	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140474516G>T	ENST00000194155.4	+	1	290	c.142G>T	c.(142-144)Gcc>Tcc	p.A48S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	48	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTTTGTGGCCAATTTGTT	0.498																																						uc003lil.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(142-144)GCC>TCC		protocadherin beta 2 precursor							55.0	62.0	60.0					5																	140474516		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474516G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.142G>T	5.37:g.140474516G>T	ENSP00000194155:p.Ala48Ser					PCDHB2_uc003lim.1_Intron	p.A48S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	280	+			48			Extracellular (Potential).|Cadherin 1.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.142G>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.203310	0.79127	.	.	ENSG00000112852	ENST00000194155	T	0.32988	1.43	5.37	3.54	0.40534	Cadherin, N-terminal (1);Cadherin (1);	.	.	.	.	T	0.52709	0.1751	M	0.89214	3.015	0.32176	N	0.581047	P	0.46020	0.871	P	0.54431	0.752	T	0.65356	-0.6188	9	0.72032	D	0.01	.	9.9231	0.41476	0.073:0.0:0.7875:0.1395	.	48	Q9Y5E7	PCDB2_HUMAN	S	48	ENSP00000194155:A48S	ENSP00000194155:A48S	A	+	1	0	PCDHB2	140454700	0.485000	0.25972	0.996000	0.52242	0.911000	0.54048	3.439000	0.52878	0.718000	0.32166	0.655000	0.94253	GCC		0.498	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		13	49	1	0	1.05e-09	1.87e-09	13	49				
PCDHB3	56132	broad.mit.edu	37	5	140481907	140481907	+	Silent	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140481907G>C	ENST00000231130.2	+	1	1674	c.1674G>C	c.(1672-1674)tcG>tcC	p.S558S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	558	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGACAACTCGCCCTTCGTGC	0.711																																						uc003lio.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1672-1674)TCG>TCC		protocadherin beta 3 precursor							12.0	14.0	13.0					5																	140481907		2139	4196	6335	SO:0001819	synonymous_variant	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481907G>C	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1674G>C	5.37:g.140481907G>C						uc003lin.2_5'Flank	p.S558S	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1674	+			558			Extracellular (Potential).|Cadherin 5.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1674G>C	CCDS4245.1																																																																																				0.711	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		30	76	0	0	0	0	30	76				
PCDHB16	57717	broad.mit.edu	37	5	140562178	140562178	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140562178T>C	ENST00000361016.2	+	1	1199	c.44T>C	c.(43-45)cTt>cCt	p.L15P		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	15					calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAAGTCCTTGTTTTCTTT	0.473																																						uc003liv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(43-45)CTT>CCT		protocadherin beta 16 precursor							118.0	133.0	128.0					5																	140562178		2203	4300	6503	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140562178T>C	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.44T>C	5.37:g.140562178T>C	ENSP00000354293:p.Leu15Pro					PCDHB16_uc010jfw.1_Intron	p.L15P	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1199	+			15					B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.44T>C	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.729042	0.89390	.	.	ENSG00000196963	ENST00000361016	T	0.57273	0.41	4.84	4.84	0.62591	.	0.787459	0.09925	U	0.737986	T	0.68796	0.3040	M	0.87038	2.855	0.22050	N	0.9994	D	0.61080	0.989	P	0.53450	0.726	T	0.60954	-0.7160	10	0.72032	D	0.01	.	9.0449	0.36341	0.0:0.0831:0.0:0.9169	.	15	Q9NRJ7	PCDBG_HUMAN	P	15	ENSP00000354293:L15P	ENSP00000354293:L15P	L	+	2	0	PCDHB16	140542362	0.001000	0.12720	0.385000	0.26158	0.655000	0.38815	0.927000	0.28818	1.800000	0.52685	0.533000	0.62120	CTT		0.473	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		39	101	0	0	0	0	39	101				
PCDHB14	56122	broad.mit.edu	37	5	140604444	140604444	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140604444A>G	ENST00000239449.4	+	1	1367	c.1367A>G	c.(1366-1368)tAc>tGc	p.Y456C	PCDHB14_ENST00000515856.2_Missense_Mutation_p.Y303C	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	456	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAACCTCCTACACCCTGTTC	0.592																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NA																	0				ovary(1)	1						c.(1366-1368)TAC>TGC		protocadherin beta 14 precursor							126.0	127.0	127.0					5																	140604444		2203	4298	6501	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604444A>G	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1367A>G	5.37:g.140604444A>G	ENSP00000239449:p.Tyr456Cys					PCDHB14_uc011dal.1_Missense_Mutation_p.Y303C	p.Y456C	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1367	+			456			Extracellular (Potential).|Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.1367A>G	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	12.55	1.971945	0.34754	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.01745	4.66;4.66	4.5	4.5	0.54988	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.15998	0.0385	H	0.96662	3.86	0.34778	D	0.734395	D	0.89917	1.0	D	0.97110	1.0	T	0.33394	-0.9870	9	0.87932	D	0	.	9.8925	0.41298	0.8473:0.0:0.0:0.1527	.	456	Q9Y5E9	PCDBE_HUMAN	C	303;456	ENSP00000444518:Y303C;ENSP00000239449:Y456C	ENSP00000239449:Y456C	Y	+	2	0	PCDHB14	140584628	0.964000	0.33143	0.995000	0.50966	0.340000	0.28889	3.265000	0.51561	1.815000	0.52974	0.454000	0.30748	TAC		0.592	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		58	184	0	0	0	0	58	184				
PCDHB15	56121	broad.mit.edu	37	5	140625859	140625859	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:140625859A>T	ENST00000231173.3	+	1	713	c.713A>T	c.(712-714)aAt>aTt	p.N238I		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	238	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCAATGACAATGCCCCGGAG	0.577																																						uc003lje.2		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(712-714)AAT>ATT		protocadherin beta 15 precursor							47.0	47.0	47.0					5																	140625859		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625859A>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.713A>T	5.37:g.140625859A>T	ENSP00000231173:p.Asn238Ile						p.N238I	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	713	+			238			Extracellular (Potential).|Cadherin 2.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.713A>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153996	0.57259	.	.	ENSG00000113248	ENST00000231173	T	0.66099	-0.19	4.92	4.92	0.64577	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.89466	0.6723	H	0.99949	5.025	0.50632	D	0.999889	D	0.89917	1.0	D	0.97110	1.0	D	0.94248	0.7491	9	0.87932	D	0	.	14.5221	0.67856	1.0:0.0:0.0:0.0	.	238	Q9Y5E8	PCDBF_HUMAN	I	238	ENSP00000231173:N238I	ENSP00000231173:N238I	N	+	2	0	PCDHB15	140606043	1.000000	0.71417	0.991000	0.47740	0.301000	0.27625	9.279000	0.95777	1.976000	0.57569	0.402000	0.26972	AAT		0.577	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		8	23	0	0	0	0	8	23				
ARAP3	64411	broad.mit.edu	37	5	141059771	141059771	+	Missense_Mutation	SNP	C	C	A	rs372101887		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:141059771C>A	ENST00000239440.4	-	2	348	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L	ARAP3_ENST00000508305.1_Missense_Mutation_p.V17L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	95	Pro-rich.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCTTCGGCACGGGCTTAGGG	0.657																																						uc003llm.2		NA																	0				breast(5)|ovary(1)|large_intestine(1)	7						c.(283-285)GTG>TTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH		C	LEU/VAL	0,4406		0,0,2203	48.0	58.0	54.0		283	3.5	1.0	5		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARAP3	NM_022481.5	32	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	95/1545	141059771	1,13005	2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141059771C>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.283G>T	5.37:g.141059771C>A	ENSP00000239440:p.Val95Leu					ARAP3_uc003lln.2_Missense_Mutation_p.V17L|ARAP3_uc003llo.1_Missense_Mutation_p.V95L	p.V95L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			2	361	-			95			Pro-rich.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.283G>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410633	0.25465	0.0	1.16E-4	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.62788	2.23;3.07;0.0	4.35	3.48	0.39840	.	0.000000	0.56097	D	0.000037	T	0.45617	0.1351	L	0.27053	0.805	0.49687	D	0.999817	B;B	0.25667	0.002;0.131	B;B	0.26310	0.01;0.068	T	0.35847	-0.9772	10	0.39692	T	0.17	.	7.9013	0.29736	0.0:0.8868:0.0:0.1132	.	17;95	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	L	17;17;95;95	ENSP00000421826:V17L;ENSP00000239440:V95L;ENSP00000421148:V95L	ENSP00000239440:V95L	V	-	1	0	ARAP3	141039955	0.788000	0.28762	0.994000	0.49952	0.274000	0.26718	0.673000	0.25203	1.060000	0.40578	0.456000	0.33151	GTG		0.657	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		22	73	1	0	7.42e-09	1.28e-08	22	73				
SPRY4	81848	broad.mit.edu	37	5	141693814	141693814	+	Missense_Mutation	SNP	C	C	A	rs377690087		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:141693814C>A	ENST00000434127.2	-	2	1103	c.860G>T	c.(859-861)aGc>aTc	p.S287I	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.S310I	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	287					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATCCCCGCTGGCTGCTTT	0.617									Testicular Cancer, Familial Clustering of																													uc003lml.2		NA																	0				ovary(1)|lung(1)	2						c.(859-861)AGC>ATC		sprouty homolog 4 isoform 2		C	ILE/SER,ILE/SER	0,4390		0,0,2195	44.0	35.0	38.0		860,929	2.0	0.0	5		38	1,8561		0,1,4280	no	missense,missense	SPRY4	NM_001127496.1,NM_030964.3	142,142	0,1,6475	AA,AC,CC		0.0117,0.0,0.0077	benign,benign	287/300,310/323	141693814	1,12951	2195	4281	6476	SO:0001583	missense	81848	Testicular_Cancer_Familial_Clustering_of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141693814C>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.860G>T	5.37:g.141693814C>A	ENSP00000399468:p.Ser287Ile					SPRY4_uc010jgi.1_Missense_Mutation_p.S310I	p.S287I	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1119	-		all_hematologic(541;0.118)	287					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	c.860G>T	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	C	3.238	-0.156002	0.06544	0.0	1.17E-4	ENSG00000187678	ENST00000344120;ENST00000434127	T;T	0.67523	-0.27;-0.25	4.81	2.01	0.26516	.	0.839082	0.10882	N	0.623655	T	0.57417	0.2052	L	0.34521	1.04	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.51188	-0.8737	10	0.66056	D	0.02	-0.3121	13.9921	0.64374	0.0:0.2418:0.7582:0.0	.	287	Q9C004	SPY4_HUMAN	I	310;287	ENSP00000344967:S310I;ENSP00000399468:S287I	ENSP00000344967:S310I	S	-	2	0	SPRY4	141673998	0.018000	0.18449	0.000000	0.03702	0.055000	0.15305	1.984000	0.40658	0.218000	0.20820	-0.175000	0.13238	AGC		0.617	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			12	33	1	0	0.00136819	0.00201271	12	33				
POU4F3	5459	broad.mit.edu	37	5	145719828	145719828	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:145719828T>A	ENST00000230732.4	+	2	927	c.838T>A	c.(838-840)Tcc>Acc	p.S280T	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	280					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACGCACGTCCATCGCGGC	0.612																																						uc003loa.2		NA																	0					0						c.(838-840)TCC>ACC		POU class 4 homeobox 3							54.0	53.0	53.0					5																	145719828		2203	4300	6503	SO:0001583	missense	5459				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:145719828T>A	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.838T>A	5.37:g.145719828T>A	ENSP00000230732:p.Ser280Thr						p.S280T	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	927	+			280			Homeobox.		O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.838T>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816177	0.70912	.	.	ENSG00000091010	ENST00000230732	D	0.95853	-3.83	4.62	4.62	0.57501	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	N	0.20610	0.595	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95822	0.8850	10	0.87932	D	0	.	13.1438	0.59450	0.0:0.0:0.0:1.0	.	280	Q15319	PO4F3_HUMAN	T	280	ENSP00000230732:S280T	ENSP00000230732:S280T	S	+	1	0	POU4F3	145700021	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	1.922000	0.55676	0.379000	0.24179	TCC		0.612	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		21	45	0	0	0	0	21	45				
PPP2R2B	5521	broad.mit.edu	37	5	145969694	145969694	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:145969694T>A	ENST00000394413.3	-	9	1718	c.1148A>T	c.(1147-1149)aAg>aTg	p.K383M	PPP2R2B_ENST00000504198.1_Missense_Mutation_p.K389M|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.K383M|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.K386M|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.K383M|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.K372M|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.K449M|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.K372M|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.K441M|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.K383M			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	383					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCGGGGCTTGCTGTTTTC	0.507																																						uc003loe.2		NA																	0				ovary(1)|prostate(1)	2						c.(1147-1149)AAG>ATG		beta isoform of regulatory subunit B55, protein							105.0	106.0	106.0					5																	145969694		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:145969694T>A	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1148A>T	5.37:g.145969694T>A	ENSP00000377935:p.Lys383Met					PPP2R2B_uc010jgm.2_Missense_Mutation_p.K372M|PPP2R2B_uc003log.3_Missense_Mutation_p.K383M|PPP2R2B_uc003lof.3_Missense_Mutation_p.K383M|PPP2R2B_uc003loi.3_Missense_Mutation_p.K386M|PPP2R2B_uc003loh.3_Missense_Mutation_p.K383M|PPP2R2B_uc003loj.3_Missense_Mutation_p.K363M|PPP2R2B_uc003lok.3_Missense_Mutation_p.K372M|PPP2R2B_uc011dbu.1_Missense_Mutation_p.K389M|PPP2R2B_uc011dbv.1_Missense_Mutation_p.K441M	p.K383M	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1673	-			383					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.1148A>T	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.310127	0.81358	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.76839	-1.05;-1.04;1.24;-1.05;-1.05;-1.05;-1.04;-1.05;-1.05;1.24	5.82	5.82	0.92795	WD40 repeat-like-containing domain (1);	0.044559	0.85682	D	0.000000	D	0.86075	0.5846	M	0.81239	2.535	0.80722	D	1	B;D;P;D;D;P	0.61080	0.051;0.979;0.937;0.984;0.989;0.955	B;P;P;P;P;P	0.56788	0.079;0.806;0.692;0.768;0.768;0.706	D	0.86563	0.1842	10	0.44086	T	0.13	-13.4014	16.1814	0.81903	0.0:0.0:0.0:1.0	.	441;389;372;449;386;383	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	M	383;372;449;383;383;383;372;386;389;441	ENSP00000377935:K383M;ENSP00000431320:K372M;ENSP00000377936:K449M;ENSP00000377933:K383M;ENSP00000349283:K383M;ENSP00000398779:K383M;ENSP00000377932:K372M;ENSP00000336591:K386M;ENSP00000421396:K389M;ENSP00000377931:K441M	ENSP00000336591:K386M	K	-	2	0	AC011357.1	145949887	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.234000	0.73211	0.533000	0.62120	AAG		0.507	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		38	82	0	0	0	0	38	82				
SH3TC2	79628	broad.mit.edu	37	5	148407063	148407063	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:148407063C>A	ENST00000515425.1	-	11	2333	c.2232G>T	c.(2230-2232)ctG>ctT	p.L744L	SH3TC2_ENST00000538184.1_Silent_p.L291L|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000512049.1_Silent_p.L737L|SH3TC2_ENST00000394358.2_Silent_p.L629L	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	744					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCAGCCAGGGCCTGTC	0.592																																						uc003lpu.2		NA																	0				ovary(2)	2						c.(2230-2232)CTG>CTT		SH3 domain and tetratricopeptide repeats 2							52.0	57.0	55.0					5																	148407063		2203	4300	6503	SO:0001819	synonymous_variant	79628						binding	g.chr5:148407063C>A	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2232G>T	5.37:g.148407063C>A						SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.L388L|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.L291L|SH3TC2_uc010jgx.2_Silent_p.L737L|SH3TC2_uc003lpv.1_Silent_p.L291L|SH3TC2_uc011dbz.1_Silent_p.L629L	p.L744L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	2384	-			744					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Silent	SNP	ENST00000515425.1	37	c.2232G>T	CCDS4293.1																																																																																				0.592	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		21	40	1	0	3.52e-12	6.47e-12	21	40				
CAMK2A	815	broad.mit.edu	37	5	149636159	149636159	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:149636159C>A	ENST00000348628.6	-	6	1053	c.388G>T	c.(388-390)Ggg>Tgg	p.G130W	CAMK2A_ENST00000398376.3_Missense_Mutation_p.G130W	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCACCACCCCCATCTGGTGG	0.637																																						uc003lru.2		NA																	0				large_intestine(1)	1						c.(388-390)GGG>TGG		calcium/calmodulin-dependent protein kinase II							37.0	44.0	42.0					5																	149636159		2099	4241	6340	SO:0001583	missense	815				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:149636159C>A	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.388G>T	5.37:g.149636159C>A	ENSP00000261793:p.Gly130Trp					CAMK2A_uc003lrt.2_Missense_Mutation_p.G130W|CAMK2A_uc010jhe.2_Missense_Mutation_p.G110W|CAMK2A_uc010jhf.1_Missense_Mutation_p.G2W	p.G130W	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	603	-		all_hematologic(541;0.224)	130			Protein kinase.		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	ENST00000348628.6	37	c.388G>T	CCDS43386.1	.	.	.	.	.	.	.	.	.	.	C	33	5.203648	0.95033	.	.	ENSG00000070808	ENST00000348628;ENST00000398376;ENST00000515758	T;T;T	0.32023	1.47;1.47;1.6	5.2	5.2	0.72013	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	U	0.000001	T	0.66607	0.2806	M	0.92784	3.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.76269	-0.3021	10	0.87932	D	0	.	18.3233	0.90246	0.0:1.0:0.0:0.0	.	130;130;130	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	W	130;130;2	ENSP00000261793:G130W;ENSP00000381412:G130W;ENSP00000427580:G2W	ENSP00000261793:G130W	G	-	1	0	CAMK2A	149616352	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.649000	0.83500	2.428000	0.82296	0.491000	0.48974	GGG		0.637	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258869.2	NM_015981		6	30	1	0	3.6e-05	5.62e-05	6	30				
ARSI	340075	broad.mit.edu	37	5	149678016	149678016	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:149678016A>G	ENST00000328668.7	-	2	1050	c.471T>C	c.(469-471)tgT>tgC	p.C157C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	157					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTGGGCAGACACTCCTTCC	0.607																																						uc003lrv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(469-471)TGT>TGC		arylsulfatase family, member I precursor							51.0	55.0	54.0					5																	149678016		2203	4300	6503	SO:0001819	synonymous_variant	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149678016A>G	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.471T>C	5.37:g.149678016A>G							p.C157C	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1060	-			157					A1L3B0|B3KV22|B7XD03	Silent	SNP	ENST00000328668.7	37	c.471T>C	CCDS34275.1																																																																																				0.607	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		19	38	0	0	0	0	19	38				
KIF4B	285643	broad.mit.edu	37	5	154394597	154394597	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:154394597A>T	ENST00000435029.4	+	1	1338	c.1178A>T	c.(1177-1179)cAg>cTg	p.Q393L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	393					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GAGAAGAATCAGTCCCTGGTA	0.468																																						uc010jih.1		NA																	0				ovary(1)	1						c.(1177-1179)CAG>CTG		kinesin family member 4B							127.0	128.0	128.0					5																	154394597		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154394597A>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1178A>T	5.37:g.154394597A>T	ENSP00000387875:p.Gln393Leu						p.Q393L	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	1338	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	393			Potential.			Missense_Mutation	SNP	ENST00000435029.4	37	c.1178A>T	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	a	6.027	0.373381	0.11409	.	.	ENSG00000226650	ENST00000435029	T	0.69561	-0.41	1.6	0.408	0.16377	.	.	.	.	.	T	0.52885	0.1762	L	0.48642	1.525	0.20403	N	0.99991	B	0.14012	0.009	B	0.15052	0.012	T	0.37865	-0.9687	9	0.29301	T	0.29	.	4.8155	0.13365	0.8109:0.0:0.1891:0.0	.	393	Q2VIQ3	KIF4B_HUMAN	L	393	ENSP00000387875:Q393L	ENSP00000387875:Q393L	Q	+	2	0	KIF4B	154374790	0.633000	0.27181	0.981000	0.43875	0.763000	0.43281	1.149000	0.31626	0.110000	0.17919	0.455000	0.32223	CAG		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			33	100	0	0	0	0	33	100				
HAVCR1	26762	broad.mit.edu	37	5	156479381	156479381	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:156479381G>T	ENST00000339252.3	-	3	1196	c.664C>A	c.(664-666)Cat>Aat	p.H222N	HAVCR1_ENST00000522693.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000523175.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000425854.1_Missense_Mutation_p.H222N|HAVCR1_ENST00000544197.1_Missense_Mutation_p.H222N	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	217					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGGTTCATGGTTCTGCCTG	0.488																																						uc010jij.1		NA																	0				ovary(1)|skin(1)	2						c.(664-666)CAT>AAT		hepatitis A virus cellular receptor 1							155.0	151.0	152.0					5																	156479381		2026	4170	6196	SO:0001583	missense	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479381G>T	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.664C>A	5.37:g.156479381G>T	ENSP00000344844:p.His222Asn					HAVCR1_uc011ddl.1_Missense_Mutation_p.H53N|HAVCR1_uc003lwi.2_Missense_Mutation_p.H222N|HAVCR1_uc011ddm.1_Missense_Mutation_p.H222N	p.H222N	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	849	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	217			Extracellular (Potential).		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	c.664C>A	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312944	0.23908	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.16324	2.42;2.49;2.49;2.42;2.49;2.35	4.15	-0.976	0.10286	.	1.237040	0.05694	N	0.592727	T	0.09158	0.0226	N	0.22421	0.69	0.09310	N	1	B;B;B	0.17852	0.024;0.024;0.024	B;B;B	0.15052	0.012;0.012;0.012	T	0.34900	-0.9810	10	0.08599	T	0.76	-0.2191	3.9863	0.09517	0.1862:0.0:0.3381:0.4756	.	222;217;217	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	N	222	ENSP00000428524:H222N;ENSP00000427898:H222N;ENSP00000344844:H222N;ENSP00000403333:H222N;ENSP00000440258:H222N;ENSP00000428422:H222N	ENSP00000344844:H222N	H	-	1	0	HAVCR1	156411959	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.465000	0.06680	-0.205000	0.10219	-0.181000	0.13052	CAT		0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			50	138	1	0	4.19e-23	8.66e-23	50	138				
NIPAL4	348938	broad.mit.edu	37	5	156899365	156899365	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:156899365G>A	ENST00000311946.7	+	6	914	c.798G>A	c.(796-798)ctG>ctA	p.L266L	NIPAL4_ENST00000435489.2_Silent_p.L247L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	266						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTGTGCTTCTGCTGGTGTCAT	0.527											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003lwx.3		NA																	0					0						c.(796-798)CTG>CTA		ichthyin protein							216.0	211.0	213.0					5																	156899365		2151	4265	6416	SO:0001819	synonymous_variant	348938					integral to membrane	receptor activity	g.chr5:156899365G>A	AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.798G>A	5.37:g.156899365G>A			OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1782	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Silent_p.L247L	p.L266L	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN			6	914	+			266			Helical; (Potential).		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Silent	SNP	ENST00000311946.7	37	c.798G>A	CCDS47328.1																																																																																				0.527	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373789.1	NM_001099287		73	150	0	0	0	0	73	150				
ADAM19	8728	broad.mit.edu	37	5	156929850	156929850	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:156929850A>T	ENST00000517905.1	-	12	1313	c.1269T>A	c.(1267-1269)taT>taA	p.Y423*	ADAM19_ENST00000430702.2_Nonsense_Mutation_p.Y156*|ADAM19_ENST00000394020.1_Nonsense_Mutation_p.Y425*|ADAM19_ENST00000257527.4_Nonsense_Mutation_p.Y423*			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	423	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTTCCAGATACCCGTTCC	0.527																																						uc003lwz.2		NA																	0				ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(1267-1269)TAT>TAA		ADAM metallopeptidase domain 19 preproprotein							247.0	219.0	229.0					5																	156929850		2203	4300	6503	SO:0001587	stop_gained	8728				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr5:156929850A>T	AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1269T>A	5.37:g.156929850A>T	ENSP00000428654:p.Tyr423*					ADAM19_uc003lww.1_Nonsense_Mutation_p.Y156*|ADAM19_uc003lwy.2_Nonsense_Mutation_p.Y22*|ADAM19_uc011ddr.1_Nonsense_Mutation_p.Y354*	p.Y423*	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		12	1333	-	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	423			Disintegrin.|Extracellular (Potential).		Q9BZL5|Q9UHP2	Nonsense_Mutation	SNP	ENST00000517905.1	37	c.1269T>A		.	.	.	.	.	.	.	.	.	.	A	46	12.541233	0.99676	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	.	.	.	5.21	4.35	0.52113	.	0.209202	0.34088	N	0.004263	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3233	0.43780	0.1506:0.0:0.8494:0.0	.	.	.	.	X	156;423;425;423	.	ENSP00000257527:Y423X	Y	-	3	2	ADAM19	156862428	1.000000	0.71417	0.996000	0.52242	0.856000	0.48823	4.954000	0.63631	1.201000	0.43203	-0.147000	0.13772	TAT		0.527	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274		44	107	0	0	0	0	44	107				
LSM11	134353	broad.mit.edu	37	5	157181901	157181901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:157181901G>T	ENST00000286307.5	+	4	768	c.712G>T	c.(712-714)Gaa>Taa	p.E238*		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	238					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCCAAGAAGGAAGCAGATTC	0.423																																						uc003lxe.1		NA																	0					0						c.(712-714)GAA>TAA		LSM11, U7 small nuclear RNA associated							64.0	62.0	63.0					5																	157181901		2203	4300	6503	SO:0001587	stop_gained	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157181901G>T	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.712G>T	5.37:g.157181901G>T	ENSP00000286307:p.Glu238*					LSM11_uc003lxf.1_5'Flank	p.E238*	NM_173491	NP_775762	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	716	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	238					A0AVQ1|Q7Z7P0|Q8N975	Nonsense_Mutation	SNP	ENST00000286307.5	37	c.712G>T	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248992	0.95305	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.52	5.52	0.82312	.	0.628091	0.17522	N	0.171209	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-3.8146	17.631	0.88108	0.0:0.0:1.0:0.0	.	.	.	.	X	238	.	ENSP00000286307:E238X	E	+	1	0	LSM11	157114479	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.909000	0.63314	2.597000	0.87782	0.655000	0.94253	GAA		0.423	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		22	39	1	0	3.1e-05	4.88e-05	22	39				
IL12B	3593	broad.mit.edu	37	5	158753716	158753716	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:158753716T>G	ENST00000231228.2	-	2	530	c.75A>C	c.(73-75)gaA>gaC	p.E25D		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	25	Ig-like C2-type.				cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTCTTCAGTTCCCATATGG	0.502																																						uc003lxr.1		NA																	0					0						c.(73-75)GAA>GAC		interleukin 12B precursor							79.0	83.0	81.0					5																	158753716		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158753716T>G	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.75A>C	5.37:g.158753716T>G	ENSP00000231228:p.Glu25Asp						p.E25D	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	117	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	25			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000231228.2	37	c.75A>C	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.323076	0.41096	.	.	ENSG00000113302	ENST00000231228	T	0.18338	2.22	5.64	1.94	0.25998	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.387651	0.30003	N	0.010650	T	0.14442	0.0349	M	0.67397	2.05	0.34715	D	0.728156	B	0.15719	0.014	B	0.16722	0.016	T	0.15263	-1.0443	10	0.18710	T	0.47	.	3.3561	0.07169	0.1692:0.1852:0.0:0.6456	.	25	P29460	IL12B_HUMAN	D	25	ENSP00000231228:E25D	ENSP00000231228:E25D	E	-	3	2	IL12B	158686294	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	0.659000	0.24994	0.164000	0.19529	0.533000	0.62120	GAA		0.502	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		33	77	0	0	0	0	33	77				
ATP10B	23120	broad.mit.edu	37	5	160071164	160071164	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:160071164A>G	ENST00000327245.5	-	9	1695	c.849T>C	c.(847-849)gtT>gtC	p.V283V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	283					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACAATGCCAACAGCCATCT	0.493																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(847-849)GTT>GTC		ATPase, class V, type 10B							128.0	130.0	129.0					5																	160071164		2001	4176	6177	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160071164A>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.849T>C	5.37:g.160071164A>G						ATP10B_uc003lyp.2_Silent_p.V283V|ATP10B_uc011deg.1_Silent_p.V327V|ATP10B_uc003lyo.2_Silent_p.V255V	p.V283V	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1696	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	283			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.849T>C	CCDS43394.1																																																																																				0.493	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		15	63	0	0	0	0	15	63				
DOCK2	1794	broad.mit.edu	37	5	169188524	169188524	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:169188524C>A	ENST00000256935.8	+	25	2529	c.2449C>A	c.(2449-2451)Caa>Aaa	p.Q817K	DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Splice_Site_p.Q309K	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	817					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCCCTCAGCCAACTCCTGTA	0.483																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(2449-2451)CAA>AAA		dedicator of cytokinesis 2							196.0	177.0	183.0					5																	169188524		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169188524C>A	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.2448-1C>A	5.37:g.169188524C>A						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Q309K	p.Q817K	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		25	2529	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	817					Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	c.2449C>A	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	C	6.630	0.484684	0.12641	.	.	ENSG00000134516	ENST00000256935;ENST00000343291;ENST00000520908;ENST00000519628	T;T;T	0.19105	2.17;2.17;2.17	5.66	5.66	0.87406	.	0.157590	0.56097	D	0.000023	T	0.10594	0.0259	N	0.04508	-0.205	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.006;0.005	T	0.12451	-1.0547	10	0.05721	T	0.95	.	18.8929	0.92412	0.0:1.0:0.0:0.0	.	309;817	E7ERW7;Q92608	.;DOCK2_HUMAN	K	817;198;309;21	ENSP00000256935:Q817K;ENSP00000429283:Q309K;ENSP00000428841:Q21K	ENSP00000256935:Q817K	Q	+	1	0	DOCK2	169121102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.111000	0.50360	2.831000	0.97527	0.650000	0.86243	CAA		0.483	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	Missense_Mutation	38	117	1	0	5.59e-11	1.01e-10	38	117				
DOCK2	1794	broad.mit.edu	37	5	169454881	169454881	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:169454881C>T	ENST00000256935.8	+	34	3476	c.3396C>T	c.(3394-3396)atC>atT	p.I1132I	MIR378E_ENST00000581976.1_RNA|DOCK2_ENST00000540750.1_Silent_p.I193I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.I624I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1132	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAACGAAATCATCCTGAAGC	0.448																																						uc003maf.2		NA																	0				ovary(5)|pancreas(2)	7						c.(3394-3396)ATC>ATT		dedicator of cytokinesis 2							106.0	99.0	101.0					5																	169454881		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169454881C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3396C>T	5.37:g.169454881C>T						DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.I624I	p.I1132I	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		34	3476	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1132			DHR-2.|Interaction with CRKL.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.3396C>T	CCDS4371.1																																																																																				0.448	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		26	63	0	0	0	0	26	63				
KCNIP1	30820	broad.mit.edu	37	5	170147332	170147332	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:170147332C>A	ENST00000411494.1	+	4	227	c.227C>A	c.(226-228)cCc>cAc	p.P76H	KCNIP1_ENST00000377360.4_Missense_Mutation_p.P74H|KCNIP1_ENST00000520740.1_Missense_Mutation_p.P37H|KCNIP1_ENST00000434108.1_Missense_Mutation_p.P65H|KCNIP1_ENST00000390656.4_Missense_Mutation_p.P65H|KCNIP1_ENST00000328939.4_Missense_Mutation_p.P65H			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	76	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGAGTGCCCCAGTGGTGTG	0.547																																						uc003mas.2		NA																	0				skin(2)	2						c.(226-228)CCC>CAC		Kv channel interacting protein 1 isoform 1							120.0	88.0	99.0					5																	170147332		2203	4300	6503	SO:0001583	missense	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170147332C>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.227C>A	5.37:g.170147332C>A	ENSP00000395323:p.Pro76His					KCNIP1_uc003map.2_Missense_Mutation_p.P74H|KCNIP1_uc003mat.2_Missense_Mutation_p.P65H|KCNIP1_uc010jjp.2_Missense_Mutation_p.P37H|KCNIP1_uc010jjq.2_Missense_Mutation_p.P65H	p.P76H	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	756	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	76			EF-hand 1; degenerate.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.227C>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111276	0.77210	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.34	4.47	0.54385	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72415	0.3457	H	0.96080	3.765	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.989;0.998	D;D;D;D	0.67900	0.954;0.952;0.925;0.953	T	0.80446	-0.1379	9	.	.	.	.	11.733	0.51748	0.0:0.9136:0.0:0.0864	.	65;65;76;74	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	H	74;65;65;37;65;76	ENSP00000366577:P74H;ENSP00000329686:P65H;ENSP00000375071:P65H;ENSP00000431102:P37H;ENSP00000414886:P65H;ENSP00000395323:P76H	.	P	+	2	0	KCNIP1	170079910	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	5.741000	0.68638	1.248000	0.43934	0.591000	0.81541	CCC		0.547	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			9	30	1	0	2.18e-05	3.43e-05	9	30				
STK10	6793	broad.mit.edu	37	5	171523476	171523476	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:171523476T>A	ENST00000176763.5	-	8	1302	c.959A>T	c.(958-960)gAc>gTc	p.D320V	STK10_ENST00000517775.1_5'Flank	NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	320					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCCCGGCCGTCTTCGATCTC	0.642																																						uc003mbo.1		NA																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(958-960)GAC>GTC		serine/threonine kinase 10							94.0	88.0	90.0					5																	171523476		2203	4300	6503	SO:0001583	missense	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171523476T>A	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.959A>T	5.37:g.171523476T>A	ENSP00000176763:p.Asp320Val						p.D320V	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	1259	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	320					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	ENST00000176763.5	37	c.959A>T	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	T	19.64	3.865170	0.71949	.	.	ENSG00000072786	ENST00000176763;ENST00000545839	T	0.69435	-0.4	4.96	4.96	0.65561	Protein kinase-like domain (1);	0.185282	0.46145	D	0.000311	T	0.77308	0.4111	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.60682	0.878	T	0.79512	-0.1773	10	0.56958	D	0.05	.	12.646	0.56735	0.0:0.0:0.0:1.0	.	320	O94804	STK10_HUMAN	V	320	ENSP00000176763:D320V	ENSP00000176763:D320V	D	-	2	0	STK10	171456081	1.000000	0.71417	0.988000	0.46212	0.861000	0.49209	8.013000	0.88655	1.881000	0.54492	0.397000	0.26171	GAC		0.642	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2	NM_005990		32	81	0	0	0	0	32	81				
EIF4E1B	253314	broad.mit.edu	37	5	176072481	176072481	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:176072481G>A	ENST00000318682.6	+	8	1162	c.578G>A	c.(577-579)aGg>aAg	p.R193K	TSPAN17_ENST00000298564.10_5'Flank|TSPAN17_ENST00000503045.1_5'Flank|TSPAN17_ENST00000515708.1_5'Flank|TSPAN17_ENST00000508164.1_5'Flank|EIF4E1B_ENST00000504597.1_Missense_Mutation_p.R193K|TSPAN17_ENST00000405525.2_5'Flank|EIF4E1B_ENST00000512734.1_3'UTR|TSPAN17_ENST00000310032.8_5'Flank	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	193					regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGTGGACGAGGGAGGCGGAA	0.622																																						uc010jkf.1		NA																	0					0						c.(577-579)AGG>AAG		eukaryotic translation initiation factor 4E							60.0	74.0	69.0					5																	176072481		2156	4248	6404	SO:0001583	missense	253314				regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity	g.chr5:176072481G>A		CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766			33179	protein-coding gene	gene with protein product						16191198	Standard	NM_001099408		Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.578G>A	5.37:g.176072481G>A	ENSP00000323714:p.Arg193Lys					TSPAN17_uc003mes.3_5'Flank|TSPAN17_uc003met.2_5'Flank|TSPAN17_uc003meu.2_5'Flank|TSPAN17_uc003mev.2_5'Flank|TSPAN17_uc003mew.2_5'Flank	p.R193K	NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1162	+	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	193						Missense_Mutation	SNP	ENST00000318682.6	37	c.578G>A	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745710	0.30955	.	.	ENSG00000175766	ENST00000318682;ENST00000504597;ENST00000505497	T;T	0.40225	1.04;1.04	5.14	1.13	0.20643	Translation Initiation factor eIF- 4e-like  domain (2);	0.899792	0.09609	N	0.779221	T	0.24236	0.0587	L	0.31926	0.97	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.31971	-0.9924	10	0.06099	T	0.92	.	3.6702	0.08270	0.1534:0.131:0.5802:0.1354	.	193	A6NMX2	I4E1B_HUMAN	K	193;193;121	ENSP00000323714:R193K;ENSP00000427633:R193K	ENSP00000323714:R193K	R	+	2	0	EIF4E1B	176005087	0.021000	0.18746	0.001000	0.08648	0.288000	0.27193	1.790000	0.38734	-0.069000	0.12931	0.462000	0.41574	AGG		0.622	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372187.1	NM_001099408		13	29	0	0	0	0	13	29				
NSD1	64324	broad.mit.edu	37	5	176637567	176637567	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:176637567A>T	ENST00000439151.2	+	5	2212	c.2167A>T	c.(2167-2169)Acc>Tcc	p.T723S	NSD1_ENST00000354179.4_Missense_Mutation_p.T454S|NSD1_ENST00000347982.4_Missense_Mutation_p.T454S|NSD1_ENST00000361032.4_Missense_Mutation_p.T620S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	723					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGCCTGGAACCGAGACGTC	0.428			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3	GRCh37	CI054486	NSD1	I		c.(2167-2169)ACC>TCC		nuclear receptor binding SET domain protein 1							69.0	71.0	70.0					5																	176637567		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637567A>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2167A>T	5.37:g.176637567A>T	ENSP00000395929:p.Thr723Ser	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.T454S|NSD1_uc003mfs.1_Missense_Mutation_p.T620S|NSD1_uc011dfx.1_Missense_Mutation_p.T371S	p.T723S	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2305	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	723					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.2167A>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	A	3.014	-0.203214	0.06180	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.92595	-2.96;-2.96;-2.96;-3.07	5.1	5.1	0.69264	.	0.286913	0.30392	N	0.009729	D	0.82296	0.5006	N	0.12182	0.205	0.20821	N	0.999845	B;B;B	0.17038	0.018;0.02;0.005	B;B;B	0.18871	0.011;0.023;0.005	T	0.67233	-0.5722	9	.	.	.	.	9.764	0.40550	0.7776:0.2224:0.0:0.0	.	454;620;723	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	S	454;454;723;454;620	ENSP00000346111:T454S;ENSP00000395929:T723S;ENSP00000343209:T454S;ENSP00000354310:T620S	.	T	+	1	0	NSD1	176570173	1.000000	0.71417	1.000000	0.80357	0.142000	0.21351	1.742000	0.38248	2.263000	0.75096	0.533000	0.62120	ACC		0.428	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		26	58	0	0	0	0	26	58				
NSD1	64324	broad.mit.edu	37	5	176709538	176709538	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:176709538C>T	ENST00000439151.2	+	19	6010	c.5965C>T	c.(5965-5967)Caa>Taa	p.Q1989*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q1720*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q1720*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q1886*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1989	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.			RYAQEH -> KHAHEN (in Ref. 3; AAK92049). {ECO:0000305}.	gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGCTATGCTCAAGAACATGA	0.368			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3	GRCh37	CM052318	NSD1	M		c.(5965-5967)CAA>TAA		nuclear receptor binding SET domain protein 1							200.0	197.0	198.0					5																	176709538		2203	4300	6503	SO:0001587	stop_gained	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176709538C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5965C>T	5.37:g.176709538C>T	ENSP00000395929:p.Gln1989*	HNSCC(47;0.14)				NSD1_uc003mft.3_Nonsense_Mutation_p.Q1720*|NSD1_uc011dfx.1_Nonsense_Mutation_p.Q1637*	p.Q1989*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	19	6103	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1989	RYAQEH -> KHAHEN (in Ref. 3; AAK92049).		SET.		Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.5965C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	45	11.459152	0.99564	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.5	5.5	0.81552	.	0.134009	0.34959	N	0.003554	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	19.3767	0.94512	0.0:1.0:0.0:0.0	.	.	.	.	X	1720;1989;1720;1886	.	ENSP00000343209:Q1720X	Q	+	1	0	NSD1	176642144	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	7.811000	0.86092	2.735000	0.93741	0.655000	0.94253	CAA		0.368	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		24	95	0	0	0	0	24	95				
ZNF354C	30832	broad.mit.edu	37	5	178503532	178503532	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:178503532G>T	ENST00000315475.6	+	3	420	c.114G>T	c.(112-114)cgG>cgT	p.R38R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	38	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		CCTTGTACCGGGAGGTGATGC	0.527																																						uc003mju.2		NA																	0				ovary(1)	1						c.(112-114)CGG>CGT		zinc finger protein 354C							142.0	131.0	134.0					5																	178503532		2203	4300	6503	SO:0001819	synonymous_variant	30832				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178503532G>T		CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.114G>T	5.37:g.178503532G>T							p.R38R	NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)	3	229	+	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	38			KRAB.		Q6P4P9|Q8NFX1	Silent	SNP	ENST00000315475.6	37	c.114G>T	CCDS4443.1																																																																																				0.527	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			24	82	1	0	6.36e-07	1.05e-06	24	82				
BTNL3	10917	broad.mit.edu	37	5	180424227	180424227	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:180424227C>G	ENST00000342868.6	+	3	596	c.412C>G	c.(412-414)Cct>Gct	p.P138A		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	138	Ig-like V-type.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGGCTCACTTCCTCTCATTTC	0.498																																						uc003mmr.2		NA																	0					0						c.(412-414)CCT>GCT		butyrophilin-like 3 precursor							149.0	128.0	135.0					5																	180424227		2116	3957	6073	SO:0001583	missense	10917				lipid metabolic process	integral to membrane		g.chr5:180424227C>G	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.412C>G	5.37:g.180424227C>G	ENSP00000341787:p.Pro138Ala						p.P138A	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		3	540	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	138			Ig-like V-type.|Extracellular (Potential).		Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	37	c.412C>G	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.880755	0.33255	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.55588	0.51	3.9	0.949	0.19566	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70422	0.3222	M	0.90483	3.12	0.09310	N	1	D	0.56521	0.976	P	0.59595	0.86	T	0.59989	-0.7350	9	0.62326	D	0.03	.	8.4616	0.32931	0.0:0.7086:0.0:0.2914	.	138	Q6UXE8	BTNL3_HUMAN	A	138	ENSP00000341787:P138A	ENSP00000341787:P138A	P	+	1	0	BTNL3	180356833	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.783000	0.26802	0.053000	0.16036	-0.347000	0.07816	CCT		0.498	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		39	128	0	0	0	0	39	128				
JARID2	3720	broad.mit.edu	37	6	15452388	15452388	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:15452388A>C	ENST00000341776.2	+	4	719	c.475A>C	c.(475-477)Acc>Ccc	p.T159P	JARID2_ENST00000541660.1_Missense_Mutation_p.T121P|JARID2_ENST00000397311.3_5'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	159					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)				AGATTTTCTTACCTTTCTCTG	0.468																																						uc003nbj.2		NA																	0				ovary(2)|lung(1)|pancreas(1)	4						c.(475-477)ACC>CCC		jumonji, AT rich interactive domain 2 protein							87.0	82.0	84.0					6																	15452388		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.chr6:15452388A>C	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.475A>C	6.37:g.15452388A>C	ENSP00000341280:p.Thr159Pro					JARID2_uc011diu.1_Intron|JARID2_uc011div.1_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.T121P	p.T159P	NM_004973	NP_004964	Q92833	JARD2_HUMAN			4	719	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	159					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	37	c.475A>C	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.154013	0.78114	.	.	ENSG00000008083	ENST00000341776;ENST00000541660	T;T	0.36520	1.25;1.25	5.4	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.48333	0.1494	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.956;0.997	T	0.55341	-0.8156	10	0.87932	D	0	-13.8707	11.718	0.51666	0.8676:0.0:0.0:0.1324	.	121;159	F5H590;Q92833	.;JARD2_HUMAN	P	159;121	ENSP00000341280:T159P;ENSP00000444623:T121P	ENSP00000341280:T159P	T	+	1	0	JARID2	15560367	1.000000	0.71417	0.963000	0.40424	0.997000	0.91878	8.730000	0.91510	0.855000	0.35359	0.533000	0.62120	ACC		0.468	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		26	85	0	0	0	0	26	85				
ALDH5A1	7915	broad.mit.edu	37	6	24533787	24533787	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:24533787G>A	ENST00000357578.3	+	10	1600	c.1455G>A	c.(1453-1455)ctG>ctA	p.L485L	ALDH5A1_ENST00000546278.1_Silent_p.L397L|ALDH5A1_ENST00000348925.2_Silent_p.L498L|ALDH5A1_ENST00000491546.1_Silent_p.L457L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	485					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CAGAGCAGCTGGAAGTGGGCA	0.493																																						uc003neg.2		NA																	0					0						c.(1453-1455)CTG>CTA		aldehyde dehydrogenase 5A1 isoform 2 precursor	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						124.0	122.0	123.0					6																	24533787		2203	4300	6503	SO:0001819	synonymous_variant	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24533787G>A	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1455G>A	6.37:g.24533787G>A						ALDH5A1_uc003nef.2_Silent_p.L498L	p.L485L	NM_001080	NP_001071	P51649	SSDH_HUMAN			10	1483	+			485					B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	ENST00000357578.3	37	c.1455G>A	CCDS4555.1																																																																																				0.493	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			78	71	0	0	0	0	78	71				
NKAPL	222698	broad.mit.edu	37	6	28228212	28228212	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:28228212C>T	ENST00000343684.3	+	1	1115	c.1063C>T	c.(1063-1065)Cgt>Tgt	p.R355C	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	355										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGTACGACTGCGTAAGGAGAA	0.443																																						uc003nkt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1063-1065)CGT>TGT		NFKB activating protein-like							167.0	156.0	160.0					6																	28228212		2203	4300	6503	SO:0001583	missense	222698							g.chr6:28228212C>T	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.1063C>T	6.37:g.28228212C>T	ENSP00000345716:p.Arg355Cys					ZKSCAN4_uc011dlb.1_5'Flank	p.R355C	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN			1	1115	+			355					Q3MIV1|Q9H4Q7	Missense_Mutation	SNP	ENST00000343684.3	37	c.1063C>T	CCDS34353.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683531	0.68157	.	.	ENSG00000189134	ENST00000343684	T	0.38240	1.15	4.63	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	M	0.92367	3.3	0.80722	D	1	D	0.61080	0.989	P	0.61592	0.891	T	0.67749	-0.5590	10	0.87932	D	0	-9.7049	12.0033	0.53243	0.1745:0.8255:0.0:0.0	.	355	Q5M9Q1	NKAPL_HUMAN	C	355	ENSP00000345716:R355C	ENSP00000345716:R355C	R	+	1	0	NKAPL	28336191	1.000000	0.71417	0.985000	0.45067	0.967000	0.64934	3.211000	0.51137	1.268000	0.44264	0.655000	0.94253	CGT		0.443	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1			27	174	0	0	0	0	27	174				
OR2J3	442186	broad.mit.edu	37	6	29080330	29080330	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:29080330T>A	ENST00000377169.1	+	1	663	c.663T>A	c.(661-663)taT>taA	p.Y221*		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCACTTCTTATGGTGCCATCG	0.448																																						uc011dll.1		NA																	0					0						c.(661-663)TAT>TAA		olfactory receptor, family 2, subfamily J,							108.0	118.0	114.0					6																	29080330		1304	2572	3876	SO:0001587	stop_gained	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080330T>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.663T>A	6.37:g.29080330T>A	ENSP00000366374:p.Tyr221*						p.Y221*	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	663	+			221			Helical; Name=5; (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Nonsense_Mutation	SNP	ENST00000377169.1	37	c.663T>A	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563701	0.27915	.	.	ENSG00000204701	ENST00000377169	.	.	.	2.78	1.6	0.23607	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.541	0.17038	0.0:0.2452:0.0:0.7548	.	.	.	.	X	221	.	ENSP00000366374:Y221X	Y	+	3	2	OR2J3	29188309	0.001000	0.12720	0.991000	0.47740	0.295000	0.27426	-0.463000	0.06696	0.308000	0.22923	0.358000	0.22013	TAT		0.448	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			16	137	0	0	0	0	16	137				
DDR1	780	broad.mit.edu	37	6	30860151	30860151	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:30860151A>G	ENST00000324771.8	+	10	1479	c.931A>G	c.(931-933)Atg>Gtg	p.M311V	DDR1_ENST00000361741.4_Missense_Mutation_p.M42V|DDR1_ENST00000513240.1_Missense_Mutation_p.M311V|DDR1_ENST00000508312.1_Missense_Mutation_p.M329V|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376568.3_Missense_Mutation_p.M311V|DDR1_ENST00000376575.3_Missense_Mutation_p.M311V|DDR1_ENST00000418800.2_Missense_Mutation_p.M311V|DDR1_ENST00000376567.2_Missense_Mutation_p.M311V|DDR1_ENST00000376570.4_Missense_Mutation_p.M311V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000452441.1_Missense_Mutation_p.M311V|DDR1_ENST00000454612.2_Missense_Mutation_p.M311V|DDR1_ENST00000376569.3_Missense_Mutation_p.M311V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	311	DS-like domain.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TGGCCCTGCCATGGCCTGGGA	0.697																																						uc003nrr.2		NA																	0				lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1)	9						c.(931-933)ATG>GTG		discoidin domain receptor family, member 1	Imatinib(DB00619)						37.0	38.0	37.0					6																	30860151		2203	4299	6502	SO:0001583	missense	780				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:30860151A>G	X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.931A>G	6.37:g.30860151A>G	ENSP00000318217:p.Met311Val					DDR1_uc010jse.2_Missense_Mutation_p.M311V|DDR1_uc003nrq.2_Missense_Mutation_p.M311V|DDR1_uc003nrs.2_Missense_Mutation_p.M311V|DDR1_uc003nrt.2_Missense_Mutation_p.M311V|DDR1_uc011dms.1_Missense_Mutation_p.M329V|DDR1_uc003nru.2_Missense_Mutation_p.M311V|DDR1_uc003nrv.2_Missense_Mutation_p.M311V|DDR1_uc003nrw.1_Missense_Mutation_p.M110V|DDR1_uc003nry.1_5'Flank|DDR1_uc003nrx.1_5'Flank	p.M311V	NM_013993	NP_054699	Q08345	DDR1_HUMAN			9	1190	+			311			Extracellular (Potential).		B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	ENST00000324771.8	37	c.931A>G	CCDS34385.1	.	.	.	.	.	.	.	.	.	.	A	8.430	0.848473	0.17034	.	.	ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741	T;T;T;T;T;T;T;T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03	4.51	0.328	0.15918	.	0.619903	0.16203	N	0.224832	T	0.02610	0.0079	N	0.19112	0.55	0.23449	N	0.99765	B;B;B;B	0.18013	0.004;0.025;0.001;0.001	B;B;B;B	0.16722	0.005;0.005;0.016;0.002	T	0.43032	-0.9416	9	.	.	.	.	0.4035	0.00429	0.4224:0.1883:0.2073:0.182	.	329;107;311;311	B7Z2K0;A2ABM8;Q08345-5;Q08345	.;.;.;DDR1_HUMAN	V	311;311;311;311;311;311;311;311;329;311;311;107;42	ENSP00000318217:M311V;ENSP00000407699:M311V;ENSP00000406091:M311V;ENSP00000365753:M311V;ENSP00000365759:M311V;ENSP00000365754:M311V;ENSP00000365752:M311V;ENSP00000405039:M311V;ENSP00000422442:M329V;ENSP00000365751:M311V;ENSP00000427552:M311V;ENSP00000398682:M107V;ENSP00000354844:M42V	.	M	+	1	0	DDR1	30968130	0.002000	0.14202	0.998000	0.56505	0.989000	0.77384	-0.456000	0.06754	0.122000	0.18314	0.379000	0.24179	ATG		0.697	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076494.3	NM_013994		31	36	0	0	0	0	31	36				
PPT2	9374	broad.mit.edu	37	6	32122555	32122555	+	Splice_Site	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:32122555G>T	ENST00000324816.6	+	2	751		c.e2+1		PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000445576.2_Splice_Site|PPT2_ENST00000361568.2_Splice_Site|PRRT1_ENST00000211413.5_5'Flank|PPT2-EGFL8_ENST00000453656.2_Splice_Site|PPT2-EGFL8_ENST00000422437.1_Splice_Site|PPT2_ENST00000375137.2_Splice_Site|PPT2_ENST00000437001.2_Splice_Site|PPT2_ENST00000493548.1_Splice_Site|PPT2_ENST00000395523.1_Splice_Site|PRRT1_ENST00000375152.2_5'Flank|PPT2_ENST00000375143.2_Splice_Site			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2						cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CATCAATGAGGTCTGGCAGGG	0.647																																						uc003nzx.2		NA																	0					0						c.e2+1		palmitoyl-protein thioesterase 2 isoform a							33.0	31.0	32.0					6																	32122555		1509	2708	4217	SO:0001630	splice_region_variant	9374				protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	g.chr6:32122555G>T	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.183+1G>T	6.37:g.32122555G>T						PRRT1_uc003nzs.2_5'Flank|PRRT1_uc003nzt.2_5'Flank|PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Splice_Site_p.E67_splice|PPT2_uc011dpi.1_Splice_Site|PPT2_uc003nzy.1_Splice_Site|PPT2_uc003nzz.2_Splice_Site_p.E61_splice|PPT2_uc003oaa.2_Splice_Site_p.E61_splice|PPT2_uc010jtu.1_Splice_Site_p.E61_splice	p.E61_splice	NM_005155	NP_005146	Q9UMR5	PPT2_HUMAN			2	751	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Splice_Site	SNP	ENST00000324816.6	37	c.183_splice	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.808648	0.70797	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118;ENST00000453656	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.762	0.69612	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPT2	32230533	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.046000	0.89438	2.324000	0.78689	0.484000	0.47621	.		0.647	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	Intron	32	39	1	0	1.89e-17	3.75e-17	32	39				
NOTCH4	4855	broad.mit.edu	37	6	32169141	32169141	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:32169141C>T	ENST00000375023.3	-	22	4030	c.3892G>A	c.(3892-3894)Gcc>Acc	p.A1298T		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1298					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ACCAGCAGGGCCAGGGAGGGC	0.637																																						uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3892-3894)GCC>ACC		notch4 preproprotein							36.0	39.0	38.0					6																	32169141		1507	2709	4216	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169141C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3892G>A	6.37:g.32169141C>T	ENSP00000364163:p.Ala1298Thr					NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.A1298T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			22	4031	-			1298			Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3892G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337101	0.60963	.	.	ENSG00000204301	ENST00000375023	T	0.81078	-1.45	4.57	4.57	0.56435	.	0.191667	0.25347	N	0.031326	T	0.58991	0.2161	L	0.27053	0.805	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63287	-0.6671	10	0.62326	D	0.03	.	12.7641	0.57383	0.0:1.0:0.0:0.0	.	1298	Q99466	NOTC4_HUMAN	T	1298	ENSP00000364163:A1298T	ENSP00000364163:A1298T	A	-	1	0	NOTCH4	32277119	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.352000	0.44080	2.407000	0.81776	0.555000	0.69702	GCC		0.637	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			45	25	0	0	0	0	45	25				
COL11A2	1302	broad.mit.edu	37	6	33146101	33146101	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:33146101C>A	ENST00000374708.4	-	18	1802	c.1544G>T	c.(1543-1545)gGg>gTg	p.G515V	COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000341947.2_Missense_Mutation_p.G601V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G520V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G580V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G494V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G541V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G575V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G554V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	601	Collagen-like 2.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCAGGCAGCCCTCGAGGCCC	0.617																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1		NA																	0				ovary(3)|skin(2)	5						c.(1801-1803)GGG>GTG		collagen, type XI, alpha 2 isoform 1							90.0	86.0	87.0					6																	33146101		1511	2709	4220	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33146101C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1544G>T	6.37:g.33146101C>A	ENSP00000363840:p.Gly515Val					COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.G515V|COL11A2_uc003ocz.1_Missense_Mutation_p.G494V	p.G601V	NM_080680	NP_542411	P13942	COBA2_HUMAN			20	2030	-			601			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1802G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.021429	0.75275	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	D;D;D;D;D;D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-6.29;-5.77	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.97103	3.94	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97038	0.9755	10	0.87932	D	0	.	13.9342	0.64015	0.0:1.0:0.0:0.0	.	494;515;601	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	515;601;580;575;554;541;520;494;601	ENSP00000363840:G515V;ENSP00000339915:G601V;ENSP00000350079:G580V;ENSP00000363846:G575V;ENSP00000363845:G554V;ENSP00000378623:G541V;ENSP00000363844:G520V;ENSP00000355123:G494V;ENSP00000405520:G601V	ENSP00000339915:G601V	G	-	2	0	COL11A2	33254079	0.978000	0.34361	1.000000	0.80357	0.982000	0.71751	5.078000	0.64425	2.124000	0.65301	0.448000	0.29417	GGG		0.617	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			18	141	1	0	4.76e-15	9.21e-15	18	141				
RGL2	5863	broad.mit.edu	37	6	33262943	33262943	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:33262943C>T	ENST00000497454.1	-	9	1665	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RGL2_ENST00000444031.2_Silent_p.E308E|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	390	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AATTATCCTCCTCGGAGAAAA	0.577																																						uc003odv.2		NA																	0				skin(3)|lung(1)|breast(1)|pancreas(1)	6						c.(1168-1170)GAG>GAA		ral guanine nucleotide dissociation							31.0	37.0	35.0					6																	33262943		2203	4300	6503	SO:0001819	synonymous_variant	5863				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr6:33262943C>T		CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1170G>A	6.37:g.33262943C>T						RGL2_uc003odu.2_5'UTR|RGL2_uc010jur.2_5'UTR|RGL2_uc003odw.2_Silent_p.E308E|RGL2_uc011drb.1_Silent_p.E308E	p.E390E	NM_004761	NP_004752	O15211	RGL2_HUMAN			9	1303	-			390			Ras-GEF.		B4DG72|Q5STK0|Q9Y3F3	Silent	SNP	ENST00000497454.1	37	c.1170G>A	CCDS4774.1																																																																																				0.577	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076098.2			4	23	0	0	0	0	4	23				
CPNE5	57699	broad.mit.edu	37	6	36766231	36766231	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:36766231C>A	ENST00000244751.2	-	5	952		c.e5+1			NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V							extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCAGAACTCACGTGTTTGGAT	0.512																																						uc003omr.1		NA																	0				skin(1)	1						c.e5+1		copine V							94.0	88.0	90.0					6																	36766231		2203	4300	6503	SO:0001630	splice_region_variant	57699							g.chr6:36766231C>A	H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.327+1G>T	6.37:g.36766231C>A						CPNE5_uc003oms.1_Splice_Site_p.H71_splice	p.H109_splice	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN			5	394	-								Q7Z6C8	Splice_Site	SNP	ENST00000244751.2	37	c.327_splice	CCDS4825.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201125	0.79015	.	.	ENSG00000124772	ENST00000244751	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7461	0.69490	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPNE5	36874209	1.000000	0.71417	0.994000	0.49952	0.977000	0.68977	6.589000	0.74080	2.392000	0.81423	0.650000	0.86243	.		0.512	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040351.1	NM_020939	Intron	28	28	1	0	8.58e-18	1.71e-17	28	28				
DNAH8	1769	broad.mit.edu	37	6	38885916	38885916	+	Splice_Site	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:38885916G>A	ENST00000359357.3	+	68	10127	c.9873G>A	c.(9871-9873)aaG>aaA	p.K3291K	DNAH8_ENST00000449981.2_Splice_Site_p.K3508K|DNAH8_ENST00000441566.1_Splice_Site_p.K3255K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3291	Stalk. {ECO:0000250}.				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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCCTCTGAAGGTAAAAGTTT	0.373																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(9871-9873)AAG>AAA		dynein, axonemal, heavy polypeptide 8							53.0	55.0	54.0					6																	38885916		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38885916G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9873+1G>A	6.37:g.38885916G>A						uc003oof.1_Intron	p.K3291K	NM_001371	NP_001362					68	10473	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.9873G>A																																																																																					0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Silent	13	48	0	0	0	0	13	48				
NCR2	9436	broad.mit.edu	37	6	41304148	41304148	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:41304148T>G	ENST00000373089.5	+	2	464	c.376T>G	c.(376-378)Tat>Gat	p.Y126D	NCR2_ENST00000373086.3_Missense_Mutation_p.Y126D|NCR2_ENST00000373083.4_Missense_Mutation_p.Y126D	NM_004828.3	NP_004819.2	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	126					cellular defense response (GO:0006968)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					CGTCAGATTCTATCTGGTGGT	0.532																																						uc003oqh.2		NA																	0				ovary(1)	1						c.(376-378)TAT>GAT		natural cytotoxicity triggering receptor 2							71.0	67.0	69.0					6																	41304148		2203	4300	6503	SO:0001583	missense	9436				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr6:41304148T>G	AJ225109	CCDS4855.1, CCDS56428.1, CCDS56429.1	6p21.1	2013-01-11	2002-11-13	2002-11-15	ENSG00000096264	ENSG00000096264		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	6732	protein-coding gene	gene with protein product		604531	"""lymphocyte antigen 95 (activating NK-receptor; NK-p44)"""	LY95		10049942	Standard	NM_004828		Approved	NK-p44, CD336	uc003oqh.2	O95944	OTTHUMG00000014678	ENST00000373089.5:c.376T>G	6.37:g.41304148T>G	ENSP00000362181:p.Tyr126Asp					NCR2_uc003oqi.2_Missense_Mutation_p.Y126D|NCR2_uc003oqj.2_Missense_Mutation_p.Y126D	p.Y126D	NM_004828	NP_004819	O95944	NCTR2_HUMAN			2	463	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		126			Extracellular (Potential).		Q9H562|Q9H563|Q9H564|Q9UMT1|Q9UMT2	Missense_Mutation	SNP	ENST00000373089.5	37	c.376T>G	CCDS4855.1	.	.	.	.	.	.	.	.	.	.	T	12.70	2.017676	0.35606	.	.	ENSG00000096264	ENST00000373083;ENST00000373089;ENST00000373086	T;T;T	0.04156	3.69;3.69;3.69	4.49	-0.958	0.10347	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01730	0.0055	L	0.50333	1.59	0.09310	N	1	P;P;P	0.51240	0.838;0.838;0.943	B;B;P	0.47376	0.445;0.378;0.545	T	0.38156	-0.9674	9	0.15952	T	0.53	.	3.1069	0.06345	0.2172:0.3648:0.0:0.4179	.	126;126;126	O95944-3;O95944-2;O95944	.;.;NCTR2_HUMAN	D	126	ENSP00000362175:Y126D;ENSP00000362181:Y126D;ENSP00000362178:Y126D	ENSP00000362175:Y126D	Y	+	1	0	NCR2	41412126	0.000000	0.05858	0.020000	0.16555	0.118000	0.20060	-1.619000	0.02048	0.011000	0.14865	0.533000	0.62120	TAT		0.532	NCR2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040511.3			59	31	0	0	0	0	59	31				
TRERF1	55809	broad.mit.edu	37	6	42236484	42236484	+	Missense_Mutation	SNP	C	C	A	rs147382652		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:42236484C>A	ENST00000372922.4	-	5	1407	c.845G>T	c.(844-846)cGt>cTt	p.R282L	TRERF1_ENST00000354325.2_Missense_Mutation_p.R282L|TRERF1_ENST00000541110.1_Missense_Mutation_p.R282L|TRERF1_ENST00000372917.4_Missense_Mutation_p.R282L|TRERF1_ENST00000340840.2_Missense_Mutation_p.R282L	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	282	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATGGAGATACGCTGTTGCCC	0.597																																						uc003osd.2		NA																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(844-846)CGT>CTT		transcriptional regulating factor 1							65.0	61.0	62.0					6																	42236484		2203	4300	6503	SO:0001583	missense	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236484C>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.845G>T	6.37:g.42236484C>A	ENSP00000362013:p.Arg282Leu					TRERF1_uc011duq.1_Missense_Mutation_p.R282L|TRERF1_uc003osb.2_Missense_Mutation_p.R121L|TRERF1_uc003osc.2_Missense_Mutation_p.R121L|TRERF1_uc003ose.2_Missense_Mutation_p.R282L	p.R282L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1408	-	Colorectal(47;0.196)		282			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	ENST00000372922.4	37	c.845G>T	CCDS4867.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.727449	0.48833	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.13420	2.8;2.59;2.77;2.59;2.59	5.52	4.62	0.57501	.	0.149369	0.30809	N	0.008831	T	0.03827	0.0108	N	0.20986	0.625	0.40192	D	0.977412	P;B;B;P;P	0.35272	0.493;0.36;0.36;0.493;0.493	B;B;B;B;B	0.36418	0.169;0.082;0.082;0.224;0.224	T	0.43458	-0.9390	10	0.27785	T	0.31	-7.6923	9.8787	0.41220	0.0:0.8396:0.0:0.1604	.	282;282;282;121;121	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	L	282	ENSP00000439689:R282L;ENSP00000362008:R282L;ENSP00000362013:R282L;ENSP00000339438:R282L;ENSP00000346285:R282L	ENSP00000339438:R282L	R	-	2	0	TRERF1	42344462	0.624000	0.27102	0.853000	0.33588	0.939000	0.58152	1.077000	0.30741	1.259000	0.44117	0.561000	0.74099	CGT		0.597	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		91	69	1	0	3.78e-48	8.06e-48	91	69				
PTCRA	171558	broad.mit.edu	37	6	42890971	42890971	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:42890971T>G	ENST00000304672.1	+	2	346	c.265T>G	c.(265-267)Ttg>Gtg	p.L89V	PTCRA_ENST00000441198.1_Missense_Mutation_p.L64V|PTCRA_ENST00000446507.1_Intron	NM_001243168.1|NM_138296.2	NP_001230097.1|NP_612153.2	Q6ISU1	PTCRA_HUMAN	pre T-cell antigen receptor alpha	89					negative regulation of thymocyte apoptotic process (GO:0070244)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTGGACCAACTTGGCCCATCT	0.622																																						uc003osx.2		NA																	0				ovary(2)	2						c.(265-267)TTG>GTG		pre T-cell antigen receptor alpha precursor							149.0	117.0	128.0					6																	42890971		2203	4300	6503	SO:0001583	missense	171558					integral to membrane	receptor activity	g.chr6:42890971T>G	AF084941	CCDS4874.1, CCDS59019.1, CCDS59020.1, CCDS75457.1	6p21.3	2008-02-05			ENSG00000171611	ENSG00000171611			21290	protein-coding gene	gene with protein product		606817				8618853, 9842925	Standard	NM_138296		Approved	PTA, PT-ALPHA	uc021yzp.1	Q6ISU1	OTTHUMG00000014709	ENST00000304672.1:c.265T>G	6.37:g.42890971T>G	ENSP00000304447:p.Leu89Val					PTCRA_uc011duz.1_Silent_p.T99T|PTCRA_uc010jxx.1_Silent_p.T49T|PTCRA_uc010jxy.2_Missense_Mutation_p.L64V|PTCRA_uc010jxz.2_Intron	p.L89V	NM_138296	NP_612153	Q6ISU1	PTCRA_HUMAN	all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)		2	346	+	Colorectal(47;0.196)		89			Extracellular (Potential).		Q5TFZ7	Missense_Mutation	SNP	ENST00000304672.1	37	c.265T>G	CCDS4874.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748387	0.30955	.	.	ENSG00000171611	ENST00000304672;ENST00000441198	T;T	0.48201	0.82;0.82	5.84	-5.86	0.02304	Immunoglobulin-like fold (1);	0.204155	0.24102	N	0.041528	T	0.13329	0.0323	N	0.24115	0.695	0.31561	N	0.657527	P;P	0.51537	0.946;0.65	P;B	0.46253	0.509;0.285	T	0.19257	-1.0311	10	0.29301	T	0.29	-5.9271	6.1038	0.20061	0.1185:0.5743:0.1355:0.1718	.	64;89	Q6ISU1-3;Q6ISU1	.;PTCRA_HUMAN	V	89;64	ENSP00000304447:L89V;ENSP00000409550:L64V	ENSP00000304447:L89V	L	+	1	2	PTCRA	42998949	0.000000	0.05858	0.020000	0.16555	0.646000	0.38490	-1.193000	0.03049	-0.490000	0.06707	-0.280000	0.10049	TTG		0.622	PTCRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040565.2	NM_138296		29	156	0	0	0	0	29	156				
CENPQ	55166	broad.mit.edu	37	6	49456174	49456174	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:49456174G>T	ENST00000335783.3	+	7	681	c.587G>T	c.(586-588)aGa>aTa	p.R196I		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	196					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					GAAGAGGAGAGAGTAAAACAG	0.313																																						uc003ozh.1		NA																	0				ovary(2)	2						c.(586-588)AGA>ATA		centromere protein Q							61.0	64.0	63.0					6																	49456174		2203	4297	6500	SO:0001583	missense	55166				CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		g.chr6:49456174G>T	AK001407	CCDS4925.1	6p12.3	2013-11-05	2006-06-15	2006-06-15	ENSG00000031691	ENSG00000031691			21347	protein-coding gene	gene with protein product		611506	"""chromosome 6 open reading frame 139"""	C6orf139		16622420, 16622419	Standard	NM_018132		Approved	FLJ10545, CENP-Q	uc003ozh.1	Q7L2Z9	OTTHUMG00000014815	ENST00000335783.3:c.587G>T	6.37:g.49456174G>T	ENSP00000337289:p.Arg196Ile						p.R196I	NM_018132	NP_060602	Q7L2Z9	CENPQ_HUMAN			7	676	+	Lung NSC(77;0.0128)		196			Potential.		A8KAF1|Q6IN61|Q9NVS5	Missense_Mutation	SNP	ENST00000335783.3	37	c.587G>T	CCDS4925.1	.	.	.	.	.	.	.	.	.	.	G	5.858	0.342488	0.11069	.	.	ENSG00000031691	ENST00000335783;ENST00000371200	T	0.47177	0.85	5.64	1.53	0.23141	.	0.218810	0.45361	D	0.000370	T	0.08358	0.0208	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.23583	-1.0184	10	0.66056	D	0.02	-1.5822	2.473	0.04568	0.6007:0.1708:0.0841:0.1445	.	196	Q7L2Z9	CENPQ_HUMAN	I	196	ENSP00000337289:R196I	ENSP00000337289:R196I	R	+	2	0	CENPQ	49564133	0.018000	0.18449	0.017000	0.16124	0.003000	0.03518	1.470000	0.35354	0.119000	0.18210	-1.483000	0.00984	AGA		0.313	CENPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040855.2	NM_018132		36	35	1	0	3.93e-24	8.17e-24	36	35				
RHAG	6005	broad.mit.edu	37	6	49578777	49578777	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:49578777G>T	ENST00000371175.4	-	7	1053	c.1027C>A	c.(1027-1029)Ctt>Att	p.L343I	RHAG_ENST00000229810.7_Intron	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	343					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATGCCTGCAAGGCCTCCCACT	0.473																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.3		NA																	0				breast(1)|skin(1)	2						c.(1027-1029)CTT>ATT		Rh-associated glycoprotein							96.0	92.0	94.0					6																	49578777		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49578777G>T		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.1027C>A	6.37:g.49578777G>T	ENSP00000360217:p.Leu343Ile					RHAG_uc010jzl.2_Missense_Mutation_p.L343I|RHAG_uc010jzm.2_Intron	p.L343I	NM_000324	NP_000315	Q02094	RHAG_HUMAN			7	1089	-	Lung NSC(77;0.0255)		343			Helical; (Potential).		B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.1027C>A	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.606476	0.00842	.	.	ENSG00000112077	ENST00000371175;ENST00000418071;ENST00000539403	T	0.22539	1.95	5.03	2.86	0.33363	Ammonium transporter AmtB-like (3);	0.352416	0.29355	N	0.012391	T	0.02571	0.0078	N	0.04655	-0.195	0.80722	D	1	B;B	0.16396	0.017;0.009	B;B	0.23419	0.046;0.028	T	0.37337	-0.9710	10	0.02654	T	1	-7.8281	10.9724	0.47446	0.0:0.0:0.4238:0.5762	.	343;343	Q9UHG9;Q02094	.;RHAG_HUMAN	I	343	ENSP00000360217:L343I	ENSP00000360217:L343I	L	-	1	0	RHAG	49686736	0.002000	0.14202	0.939000	0.37840	0.046000	0.14306	-0.070000	0.11523	1.196000	0.43129	0.655000	0.94253	CTT		0.473	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1			50	48	1	0	2.9e-28	6.07e-28	50	48				
CRISP2	7180	broad.mit.edu	37	6	49665662	49665662	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:49665662C>A	ENST00000339139.4	-	8	662	c.426G>T	c.(424-426)tgG>tgT	p.W142C		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	142	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AAGTCGAGTACCAAACAAGCT	0.313																																						uc003ozq.2		NA																	0				skin(1)	1						c.(424-426)TGG>TGT		cysteine-rich secretory protein 2 precursor							92.0	91.0	91.0					6																	49665662		2203	4300	6503	SO:0001583	missense	7180					extracellular space		g.chr6:49665662C>A	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.426G>T	6.37:g.49665662C>A	ENSP00000339155:p.Trp142Cys					CRISP2_uc003ozl.2_Missense_Mutation_p.W142C|CRISP2_uc003ozn.2_Missense_Mutation_p.W142C|CRISP2_uc003ozr.2_Missense_Mutation_p.W142C|CRISP2_uc003ozo.2_Missense_Mutation_p.W142C|CRISP2_uc003ozm.2_Missense_Mutation_p.W142C|CRISP2_uc003ozp.2_Missense_Mutation_p.W142C	p.W142C	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		8	682	-	Lung NSC(77;0.0161)		142					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.426G>T	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.182901	0.38511	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.16324	2.35	4.7	3.76	0.43208	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.57533	0.2060	H	0.99919	4.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75184	-0.3407	10	0.87932	D	0	.	12.0751	0.53638	0.1725:0.8275:0.0:0.0	.	142;142	Q7Z7B2;P16562	.;CRIS2_HUMAN	C	142	ENSP00000339155:W142C	ENSP00000211238:W142C	W	-	3	0	CRISP2	49773621	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	4.106000	0.57804	2.605000	0.88082	0.650000	0.86243	TGG		0.313	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296		20	128	1	0	8.34e-07	1.37e-06	20	128				
PKHD1	5314	broad.mit.edu	37	6	51750673	51750673	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:51750673C>A	ENST00000371117.3	-	45	7482	c.7207G>T	c.(7207-7209)Ggt>Tgt	p.G2403C	PKHD1_ENST00000340994.4_Missense_Mutation_p.G2403C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2403					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGGCACCACCTGCACTT	0.388																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(7207-7209)GGT>TGT		fibrocystin isoform 1							49.0	46.0	47.0					6																	51750673		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51750673C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7207G>T	6.37:g.51750673C>A	ENSP00000360158:p.Gly2403Cys					PKHD1_uc010jzn.1_Missense_Mutation_p.G386C|PKHD1_uc003pai.2_Missense_Mutation_p.G2403C	p.G2403C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			45	7483	-	Lung NSC(77;0.0605)		2403			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.7207G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707862	0.68615	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.79554	-1.28;-1.28	5.81	5.81	0.92471	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	M	0.78801	2.425	0.44221	D	0.997056	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89280	0.3611	10	0.87932	D	0	.	17.2257	0.86970	0.0:1.0:0.0:0.0	.	2403;2403;2403	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	C	2403	ENSP00000360158:G2403C;ENSP00000341097:G2403C	ENSP00000341097:G2403C	G	-	1	0	PKHD1	51858632	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	4.420000	0.59841	2.756000	0.94617	0.650000	0.86243	GGT		0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		14	46	1	0	1.36e-06	2.23e-06	14	46				
PKHD1	5314	broad.mit.edu	37	6	51947209	51947209	+	Missense_Mutation	SNP	C	C	T	rs374447352		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:51947209C>T	ENST00000371117.3	-	4	537	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	PKHD1_ENST00000340994.4_Missense_Mutation_p.V88M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	88	IPT/TIG 1; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CATGTCACCACAGGCAAATCC	0.488																																						uc003pah.1		NA																	0				lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(262-264)GTG>ATG		fibrocystin isoform 1							174.0	181.0	178.0					6																	51947209		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51947209C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.262G>A	6.37:g.51947209C>T	ENSP00000360158:p.Val88Met					PKHD1_uc003pai.2_Missense_Mutation_p.V88M	p.V88M	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			4	538	-	Lung NSC(77;0.0605)		88			Extracellular (Potential).|IPT/TIG 1; atypical.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.262G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.913471	0.33815	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87179	-2.02;-2.22	5.55	-1.09	0.09904	.	0.726683	0.12558	N	0.458440	T	0.69033	0.3066	L	0.46157	1.445	0.09310	N	1	P;P	0.44380	0.834;0.744	B;B	0.43155	0.41;0.293	T	0.61282	-0.7094	10	0.40728	T	0.16	.	4.7504	0.13057	0.2398:0.2392:0.4448:0.0762	.	88;88	P08F94-2;P08F94	.;PKHD1_HUMAN	M	88	ENSP00000360158:V88M;ENSP00000341097:V88M	ENSP00000341097:V88M	V	-	1	0	PKHD1	52055168	0.003000	0.15002	0.163000	0.22734	0.912000	0.54170	0.078000	0.14761	0.063000	0.16370	0.557000	0.71058	GTG		0.488	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		173	135	0	0	0	0	173	135				
TINAG	27283	broad.mit.edu	37	6	54173485	54173485	+	Missense_Mutation	SNP	G	G	T	rs147898099		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:54173485G>T	ENST00000259782.4	+	1	233	c.137G>T	c.(136-138)cGa>cTa	p.R46L	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.R28L|TINAG_ENST00000370869.3_Missense_Mutation_p.R42L	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	46					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CAAGGTACTCGATTCAAAAGA	0.428																																						uc003pcj.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(136-138)CGA>CTA		tubulointerstitial nephritis antigen							153.0	141.0	145.0					6																	54173485		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54173485G>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.137G>T	6.37:g.54173485G>T	ENSP00000259782:p.Arg46Leu					TINAG_uc003pci.2_Missense_Mutation_p.R46L|TINAG_uc010jzt.2_RNA	p.R46L	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		1	283	+	Lung NSC(77;0.0518)		46					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.137G>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079470	0.76528	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.68479	1.75;-0.33;1.74	5.88	5.88	0.94601	.	0.000000	0.56097	D	0.000024	T	0.74959	0.3785	M	0.71581	2.175	0.36763	D	0.883391	D;D	0.89917	1.0;1.0	D;D	0.70227	0.956;0.968	T	0.73241	-0.4045	10	0.33141	T	0.24	.	15.7208	0.77708	0.0:0.0:1.0:0.0	.	46;46	Q9UJW2;Q7Z477	TINAG_HUMAN;.	L	42;46;46;28	ENSP00000359906:R42L;ENSP00000259782:R46L;ENSP00000359901:R28L	ENSP00000259782:R46L	R	+	2	0	TINAG	54281444	0.998000	0.40836	1.000000	0.80357	0.862000	0.49288	4.856000	0.62932	2.790000	0.95986	0.591000	0.81541	CGA		0.428	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		33	165	1	0	1.46e-13	2.75e-13	33	165				
TINAG	27283	broad.mit.edu	37	6	54214631	54214631	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:54214631C>T	ENST00000259782.4	+	7	1113	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	339					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGCCATGTCCCAACAACGTAG	0.443																																						uc003pcj.2		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1015-1017)CCC>CCT		tubulointerstitial nephritis antigen							143.0	133.0	137.0					6																	54214631		2203	4300	6503	SO:0001819	synonymous_variant	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54214631C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1017C>T	6.37:g.54214631C>T						TINAG_uc010jzt.2_RNA	p.P339P	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		7	1163	+	Lung NSC(77;0.0518)		339					Q5T467|Q9UJW1|Q9ULZ4	Silent	SNP	ENST00000259782.4	37	c.1017C>T	CCDS4955.1																																																																																				0.443	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		96	60	0	0	0	0	96	60				
ZNF451	26036	broad.mit.edu	37	6	57006110	57006110	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:57006110A>T	ENST00000370706.4	+	8	957	c.713A>T	c.(712-714)gAt>gTt	p.D238V	ZNF451_ENST00000357489.3_Missense_Mutation_p.D238V|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.D238V	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	238					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GAAGCCACAGATGATGGACAT	0.323																																						uc003pdm.1		NA																	0				ovary(1)|pancreas(1)	2						c.(712-714)GAT>GTT		zinc finger protein 451 isoform 1							105.0	90.0	95.0					6																	57006110		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57006110A>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.713A>T	6.37:g.57006110A>T	ENSP00000359740:p.Asp238Val					ZNF451_uc003pdl.2_Missense_Mutation_p.D238V|ZNF451_uc003pdn.1_Missense_Mutation_p.D238V|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.D238V	p.D238V	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		8	937	+	Lung NSC(77;0.145)		238					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.713A>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.739071	0.30774	.	.	ENSG00000112200	ENST00000370706;ENST00000357489;ENST00000491832	T;T;T	0.06849	3.25;3.25;3.25	5.53	1.87	0.25490	.	0.722042	0.14154	N	0.337809	T	0.01454	0.0047	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.24132	0.098;0.059;0.032;0.059	B;B;B;B	0.23852	0.049;0.022;0.021;0.022	T	0.42666	-0.9438	10	0.12766	T	0.61	-4.7342	9.1347	0.36866	0.5588:0.3662:0.075:0.0	.	238;238;238;238	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	V	238	ENSP00000359740:D238V;ENSP00000350083:D238V;ENSP00000421645:D238V	ENSP00000350083:D238V	D	+	2	0	ZNF451	57114069	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	1.113000	0.31184	0.370000	0.24538	0.482000	0.46254	GAT		0.323	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		6	42	0	0	0	0	6	42				
KHDRBS2	202559	broad.mit.edu	37	6	62390894	62390894	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:62390894T>C	ENST00000281156.4	-	9	1302	c.1024A>G	c.(1024-1026)Agg>Ggg	p.R342G	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGGTGTTCCCTGTATCCCCCT	0.498																																						uc003peg.2		NA																	0				skin(7)|ovary(3)|liver(1)	11						c.(1024-1026)AGG>GGG		KH domain-containing, RNA-binding, signal							207.0	143.0	165.0					6																	62390894		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62390894T>C	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.1024A>G	6.37:g.62390894T>C	ENSP00000281156:p.Arg342Gly						p.R342G	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	9	1271	-			342					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.1024A>G	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904386	0.33628	.	.	ENSG00000112232	ENST00000281156	T	0.66280	-0.2	5.13	1.06	0.20224	.	0.000000	0.85682	D	0.000000	T	0.64724	0.2624	L	0.55213	1.73	0.48395	D	0.999642	D	0.89917	1.0	D	0.83275	0.996	T	0.69022	-0.5255	10	0.87932	D	0	.	13.4645	0.61245	0.0:0.0:0.5217:0.4783	.	342	Q5VWX1	KHDR2_HUMAN	G	342	ENSP00000281156:R342G	ENSP00000281156:R342G	R	-	1	2	KHDRBS2	62448853	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	3.766000	0.55280	0.008000	0.14787	0.528000	0.53228	AGG		0.498	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		17	32	0	0	0	0	17	32				
COL19A1	1310	broad.mit.edu	37	6	70847590	70847590	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:70847590T>A	ENST00000322773.4	+	19	1499	c.1397T>A	c.(1396-1398)cTa>cAa	p.L466Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.L88Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	466	Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAAACTGGACTACCAGGATTT	0.408																																						uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(1396-1398)CTA>CAA		alpha 1 type XIX collagen precursor							174.0	171.0	172.0					6																	70847590		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70847590T>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1397T>A	6.37:g.70847590T>A	ENSP00000316030:p.Leu466Gln					COL19A1_uc010kam.1_Missense_Mutation_p.L362Q	p.L466Q	NM_001858	NP_001849	Q14993	COJA1_HUMAN			19	1514	+			466			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1397T>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	8.737	0.917986	0.17982	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.83755	-1.76;-1.76	5.01	2.64	0.31445	.	0.568193	0.16438	N	0.214439	T	0.42653	0.1212	N	0.17674	0.51	0.29490	N	0.855722	B	0.02656	0.0	B	0.08055	0.003	T	0.12604	-1.0541	10	0.13108	T	0.6	.	3.2289	0.06741	0.4526:0.1494:0.0:0.398	.	466	Q14993	COJA1_HUMAN	Q	466;88	ENSP00000316030:L466Q;ENSP00000377013:L88Q	ENSP00000316030:L466Q	L	+	2	0	COL19A1	70904311	0.736000	0.28164	0.880000	0.34516	0.888000	0.51559	0.999000	0.29757	0.490000	0.27771	0.533000	0.62120	CTA		0.408	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			36	104	0	0	0	0	36	104				
COL19A1	1310	broad.mit.edu	37	6	70859624	70859624	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:70859624G>T	ENST00000322773.4	+	28	2024	c.1922G>T	c.(1921-1923)gGt>gTt	p.G641V	COL19A1_ENST00000393344.1_Missense_Mutation_p.G263V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	641	Collagen-like 6.|Triple-helical region 3 (COL3).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGAGAGCCAGGTATTCAGGTA	0.383																																						uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(1921-1923)GGT>GTT		alpha 1 type XIX collagen precursor							90.0	97.0	95.0					6																	70859624		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70859624G>T		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.1922G>T	6.37:g.70859624G>T	ENSP00000316030:p.Gly641Val					COL19A1_uc010kam.1_Missense_Mutation_p.G537V	p.G641V	NM_001858	NP_001849	Q14993	COJA1_HUMAN			28	2039	+			641			Triple-helical region 3 (COL3).		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.1922G>T	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135198	0.56828	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.99353	-5.77;-5.77	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.99739	0.9897	H	0.98048	4.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97487	1.0051	10	0.87932	D	0	.	18.5232	0.90962	0.0:0.0:1.0:0.0	.	641	Q14993	COJA1_HUMAN	V	641;263	ENSP00000316030:G641V;ENSP00000377013:G263V	ENSP00000316030:G641V	G	+	2	0	COL19A1	70916345	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	6.643000	0.74334	2.880000	0.98712	0.650000	0.86243	GGT		0.383	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			13	34	1	0	0.00244969	0.00356876	13	34				
COL12A1	1303	broad.mit.edu	37	6	75893061	75893061	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:75893061C>T	ENST00000322507.8	-	10	1905	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Silent_p.V532V|COL12A1_ENST00000483888.2_Silent_p.V532V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	532	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCTTGCTAGGCACAAATATTT	0.393																																						uc003phs.2		NA																	0				ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(1594-1596)GTG>GTA		collagen, type XII, alpha 1 long isoform							161.0	153.0	156.0					6																	75893061		1875	4103	5978	SO:0001819	synonymous_variant	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75893061C>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1596G>A	6.37:g.75893061C>T						COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Silent_p.V190V	p.V532V	NM_004370	NP_004361	Q99715	COCA1_HUMAN			10	1762	-			532			VWFA 2.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	c.1596G>A	CCDS43482.1																																																																																				0.393	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		41	105	0	0	0	0	41	105				
SNAP91	9892	broad.mit.edu	37	6	84350842	84350842	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:84350842T>C	ENST00000439399.2	-	8	1054	c.738A>G	c.(736-738)cgA>cgG	p.R246R	SNAP91_ENST00000437520.1_Silent_p.R246R|SNAP91_ENST00000521485.1_Silent_p.R246R|SNAP91_ENST00000428679.2_Silent_p.R246R|SNAP91_ENST00000521743.1_Silent_p.R246R|SNAP91_ENST00000369694.2_Silent_p.R246R|SNAP91_ENST00000195649.6_Silent_p.R246R|SNAP91_ENST00000520213.1_Silent_p.R246R|SNAP91_ENST00000520302.1_Silent_p.R246R	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	246					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATTCAGACACTCGTGTCATTC	0.279																																						uc011dze.1		NA																	0				ovary(1)	1						c.(736-738)CGA>CGG		synaptosomal-associated protein, 91kDa homolog							53.0	51.0	51.0					6																	84350842		1799	4049	5848	SO:0001819	synonymous_variant	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84350842T>C	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.738A>G	6.37:g.84350842T>C						SNAP91_uc003pkb.2_Silent_p.R211R|SNAP91_uc003pkc.2_Silent_p.R246R|SNAP91_uc003pkd.2_Silent_p.R246R|SNAP91_uc003pka.2_Silent_p.R246R|SNAP91_uc011dzf.1_Silent_p.R127R	p.R246R	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	8	1055	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	246					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	ENST00000439399.2	37	c.738A>G	CCDS47455.1																																																																																				0.279	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			5	4	0	0	0	0	5	4				
SNX14	57231	broad.mit.edu	37	6	86223949	86223949	+	Missense_Mutation	SNP	C	C	A	rs201374322		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:86223949C>A	ENST00000314673.3	-	25	2572	c.2396G>T	c.(2395-2397)cGg>cTg	p.R799L	SNX14_ENST00000505648.1_Missense_Mutation_p.R747L|SNX14_ENST00000346348.3_Missense_Mutation_p.R746L|SNX14_ENST00000513865.1_Missense_Mutation_p.R518L|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Missense_Mutation_p.R790L	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	799					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		GAAAACTACCCGTCCTGAGAA	0.378																																						uc003pkr.2		NA																	0					0						c.(2395-2397)CGG>CTG		sorting nexin 14 isoform a							58.0	59.0	59.0					6																	86223949		2203	4300	6503	SO:0001583	missense	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86223949C>A	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2396G>T	6.37:g.86223949C>A	ENSP00000313121:p.Arg799Leu					SNX14_uc003pkp.2_Missense_Mutation_p.R662L|SNX14_uc003pkq.2_Missense_Mutation_p.R405L|SNX14_uc011dzg.1_Missense_Mutation_p.R747L|SNX14_uc003pks.2_Missense_Mutation_p.R746L|SNX14_uc003pkt.2_Missense_Mutation_p.R790L	p.R799L	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	25	2589	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	799					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Missense_Mutation	SNP	ENST00000314673.3	37	c.2396G>T	CCDS5004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.68|15.68	2.903674|2.903674	0.52333|0.52333	.|.	.|.	ENSG00000135317|ENSG00000135317	ENST00000508658|ENST00000346348;ENST00000314673;ENST00000513865;ENST00000505648;ENST00000369627;ENST00000515216	.|T;T;T;T;T;T	.|0.32753	.|1.84;1.82;1.44;1.84;1.82;1.84	6.03|6.03	4.25|4.25	0.50352|0.50352	.|.	.|0.113578	.|0.64402	.|D	.|0.000010	T|T	0.24736|0.24736	0.0600|0.0600	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999991|0.999991	.|D;P;D;B	.|0.58620	.|0.973;0.943;0.983;0.342	.|P;P;P;B	.|0.52109	.|0.656;0.69;0.578;0.065	T|T	0.01935|0.01935	-1.1244|-1.1244	5|10	.|0.44086	.|T	.|0.13	-5.0673|-5.0673	13.2588|13.2588	0.60093|0.60093	0.0:0.8699:0.0:0.1301|0.0:0.8699:0.0:0.1301	.|.	.|790;746;799;747	.|Q9Y5W7-4;Q9Y5W7-2;Q9Y5W7;Q9Y5W7-3	.|.;.;SNX14_HUMAN;.	W|L	38|746;799;518;747;790;717	.|ENSP00000257769:R746L;ENSP00000313121:R799L;ENSP00000420938:R518L;ENSP00000427380:R747L;ENSP00000358641:R790L;ENSP00000425630:R717L	.|ENSP00000313121:R799L	G|R	-|-	1|2	0|0	SNX14|SNX14	86280668|86280668	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.933000|0.933000	0.57130|0.57130	5.754000|5.754000	0.68743|0.68743	1.572000|1.572000	0.49736|0.49736	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.378	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		24	50	1	0	3.6e-14	6.85e-14	24	50				
HTR1E	3354	broad.mit.edu	37	6	87725582	87725582	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:87725582A>T	ENST00000305344.5	+	2	1233	c.530A>T	c.(529-531)cAc>cTc	p.H177L		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	177					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	ACCATCCAGCACGACCATGTT	0.522																																						uc003pli.2		NA																	0				ovary(2)|skin(1)	3						c.(529-531)CAC>CTC		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						107.0	101.0	103.0					6																	87725582		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725582A>T		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.530A>T	6.37:g.87725582A>T	ENSP00000307766:p.His177Leu						p.H177L	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1233	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	177			Extracellular (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.530A>T	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211210	0.58343	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.36699	1.24;1.24	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000004	T	0.33498	0.0865	L	0.28458	0.855	0.53688	D	0.999975	D	0.60575	0.988	D	0.67231	0.95	T	0.12066	-1.0562	10	0.40728	T	0.16	.	13.484	0.61355	1.0:0.0:0.0:0.0	.	177	P28566	5HT1E_HUMAN	L	177	ENSP00000307766:H177L;ENSP00000358597:H177L	ENSP00000307766:H177L	H	+	2	0	HTR1E	87782301	1.000000	0.71417	0.998000	0.56505	0.758000	0.43043	8.729000	0.91490	1.599000	0.50093	0.332000	0.21555	CAC		0.522	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		19	69	0	0	0	0	19	69				
PNRC1	10957	broad.mit.edu	37	6	89790894	89790894	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:89790894C>G	ENST00000336032.3	+	1	398	c.281C>G	c.(280-282)cCg>cGg	p.P94R	PNRC1_ENST00000369472.1_Intron|PNRC1_ENST00000354922.3_5'Flank|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	94					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CGGGCAGCGCCGAAGAAGCGG	0.721										Multiple Myeloma(7;0.094)																												uc003pmv.2		NA																	0					0						c.(280-282)CCG>CGG		proline-rich nuclear receptor coactivator 1							6.0	7.0	6.0					6																	89790894		2131	4216	6347	SO:0001583	missense	10957				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:89790894C>G	U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.281C>G	6.37:g.89790894C>G	ENSP00000336931:p.Pro94Arg	Multiple Myeloma(7;0.094)				PNRC1_uc003pmu.2_Missense_Mutation_p.P94R|PNRC1_uc003pmx.2_5'Flank	p.P94R	NM_006813	NP_006804	Q12796	PNRC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.102)	1	466	+		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	94			Nuclear localization signal.		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	ENST00000336032.3	37	c.281C>G	CCDS5018.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995104	0.35226	.	.	ENSG00000146278	ENST00000336032	T	0.47177	0.85	4.93	4.02	0.46733	.	0.464572	0.22976	N	0.053368	T	0.19967	0.0480	L	0.57536	1.79	0.80722	D	1	B;B	0.32338	0.047;0.365	B;B	0.34385	0.049;0.181	T	0.12218	-1.0556	10	0.06891	T	0.86	-9.6736	5.2477	0.15506	0.0:0.6595:0.2092:0.1312	.	94;94	Q12796;Q7Z5N0	PNRC1_HUMAN;.	R	94	ENSP00000336931:P94R	ENSP00000336931:P94R	P	+	2	0	PNRC1	89847613	0.650000	0.27331	0.997000	0.53966	0.143000	0.21401	1.802000	0.38853	2.557000	0.86248	0.555000	0.69702	CCG		0.721	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041471.1	NM_006813		6	14	0	0	0	0	6	14				
SIM1	6492	broad.mit.edu	37	6	100838661	100838661	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:100838661T>A	ENST00000369208.3	-	12	2659	c.1877A>T	c.(1876-1878)aAc>aTc	p.N626I	SIM1_ENST00000262901.4_Missense_Mutation_p.N626I			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	626	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGTGAAGTGTTGGCAAGAGC	0.493																																						uc003pqj.3		NA																	0				ovary(4)	4						c.(1876-1878)AAC>ATC		single-minded homolog 1							137.0	136.0	137.0					6																	100838661		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100838661T>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1877A>T	6.37:g.100838661T>A	ENSP00000358210:p.Asn626Ile					SIM1_uc010kcu.2_Missense_Mutation_p.N626I	p.N626I	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2084	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	626			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1877A>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	T	11.11	1.540938	0.27563	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.03553	3.89;3.89	5.82	-0.863	0.10669	Single-minded, C-terminal (2);	0.384302	0.32343	N	0.006227	T	0.00998	0.0033	N	0.14661	0.345	0.37203	D	0.904468	B	0.28850	0.225	B	0.34301	0.179	T	0.52660	-0.8546	10	0.41790	T	0.15	.	9.9886	0.41856	0.0:0.402:0.0:0.598	.	626	P81133	SIM1_HUMAN	I	626	ENSP00000358210:N626I;ENSP00000262901:N626I	ENSP00000262901:N626I	N	-	2	0	SIM1	100945382	0.764000	0.28473	0.996000	0.52242	0.985000	0.73830	-0.188000	0.09642	-0.136000	0.11475	0.455000	0.32223	AAC		0.493	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		53	123	0	0	0	0	53	123				
RTN4IP1	84816	broad.mit.edu	37	6	107069363	107069363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:107069363C>T	ENST00000369063.3	-	3	897	c.432G>A	c.(430-432)tgG>tgA	p.W144*	RTN4IP1_ENST00000539449.1_Nonsense_Mutation_p.W144*	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	144						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		GAACTGCAGCCCAGACCTGAA	0.418																																						uc003prj.2		NA																	0					0						c.(430-432)TGG>TGA		reticulon 4 interacting protein 1 precursor							98.0	99.0	99.0					6																	107069363		2203	4300	6503	SO:0001587	stop_gained	84816					mitochondrion	oxidoreductase activity|zinc ion binding	g.chr6:107069363C>T	AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.432G>A	6.37:g.107069363C>T	ENSP00000358059:p.Trp144*					RTN4IP1_uc010kdd.2_Nonsense_Mutation_p.W144*|RTN4IP1_uc003prk.2_Nonsense_Mutation_p.W44*	p.W144*	NM_032730	NP_116119	Q8WWV3	RT4I1_HUMAN	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)	3	909	-	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	144					Q8N9B3|Q8WZ66|Q9BRA4	Nonsense_Mutation	SNP	ENST00000369063.3	37	c.432G>A	CCDS5056.1	.	.	.	.	.	.	.	.	.	.	C	42	9.473486	0.99181	.	.	ENSG00000130347	ENST00000539449;ENST00000369063	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.282	19.4436	0.94836	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000358059:W144X	W	-	3	0	RTN4IP1	107176056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.877000	0.75562	2.894000	0.99253	0.591000	0.81541	TGG		0.418	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041673.1			26	95	0	0	0	0	26	95				
KIAA1919	91749	broad.mit.edu	37	6	111587866	111587866	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:111587866G>T	ENST00000368847.4	+	4	1454	c.1101G>T	c.(1099-1101)atG>atT	p.M367I		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	367					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TGGGAGAAATGGCTATTCCTG	0.423																																						uc003puv.3		NA																	0				ovary(3)	3						c.(1099-1101)ATG>ATT		sodium-dependent glucose transporter 1							101.0	102.0	102.0					6																	111587866		2203	4300	6503	SO:0001583	missense	91749				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr6:111587866G>T	BC036115	CCDS5090.1	6q22	2013-10-02			ENSG00000173214	ENSG00000173214			21053	protein-coding gene	gene with protein product							Standard	NM_153369		Approved	MGC33953, MFSD4B	uc003puv.4	Q5TF39	OTTHUMG00000015372	ENST00000368847.4:c.1101G>T	6.37:g.111587866G>T	ENSP00000357840:p.Met367Ile						p.M367I	NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)	4	1523	+		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)	367			Helical; (Potential).		A8K9M0|Q8IYB6|Q96PW9|Q9P0D6	Missense_Mutation	SNP	ENST00000368847.4	37	c.1101G>T	CCDS5090.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632455	0.87660	.	.	ENSG00000173214	ENST00000368847	T	0.79749	-1.3	5.92	5.92	0.95590	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.84638	0.5516	L	0.56124	1.755	0.80722	D	1	P	0.52316	0.952	P	0.58577	0.841	D	0.84670	0.0711	10	0.66056	D	0.02	-19.9082	20.3186	0.98660	0.0:0.0:1.0:0.0	.	367	Q5TF39	NAGT1_HUMAN	I	367	ENSP00000357840:M367I	ENSP00000357840:M367I	M	+	3	0	KIAA1919	111694559	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	8.834000	0.92094	2.806000	0.96561	0.551000	0.68910	ATG		0.423	KIAA1919-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041827.1	NM_153369		34	97	1	0	1.31e-24	2.73e-24	34	97				
SOGA3	387104	broad.mit.edu	37	6	127836029	127836029	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:127836029C>A	ENST00000525778.1	-	3	2010	c.1265G>T	c.(1264-1266)cGc>cTc	p.R422L	SOGA3_ENST00000556132.1_Missense_Mutation_p.R422L|SOGA3_ENST00000368268.2_Missense_Mutation_p.R422L|SOGA3_ENST00000481848.2_Missense_Mutation_p.R422L|SOGA3_ENST00000465909.2_Missense_Mutation_p.R422L			Q5TF21	SOGA3_HUMAN	SOGA family member 3	422					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGGGCGTAGCGGAGCCTTTT	0.657																																						uc003qbd.2		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(1264-1266)CGC>CTC		hypothetical protein LOC387104 precursor							82.0	84.0	83.0					6																	127836029		1992	4182	6174	SO:0001583	missense	387104					integral to membrane		g.chr6:127836029C>A	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1265G>T	6.37:g.127836029C>A	ENSP00000434570:p.Arg422Leu						p.R422L	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	3	2130	-			422			Potential.			Missense_Mutation	SNP	ENST00000525778.1	37	c.1265G>T	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.855723	0.91355	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.94	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.35278	0.0926	M	0.77103	2.36	0.58432	D	0.999997	D	0.63880	0.993	P	0.59703	0.862	T	0.38394	-0.9663	10	0.72032	D	0.01	-11.1415	16.8155	0.85733	0.0:0.871:0.129:0.0	.	422	Q5TF21	CF174_HUMAN	L	422	ENSP00000451768:R422L;ENSP00000357251:R422L;ENSP00000434570:R422L;ENSP00000435559:R422L	ENSP00000435559:R422L	R	-	2	0	C6orf174	127877722	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.813000	0.86123	1.494000	0.48533	0.557000	0.71058	CGC		0.657	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		23	63	1	0	3.01e-09	5.26e-09	23	63				
SAMD3	154075	broad.mit.edu	37	6	130535481	130535481	+	Splice_Site	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:130535481C>T	ENST00000368134.2	-	6	878		c.e6+1		SAMD3_ENST00000532763.1_Splice_Site|SAMD3_ENST00000533296.1_Splice_Site|SAMD3_ENST00000437477.2_Splice_Site|SAMD3_ENST00000457563.2_Splice_Site|SAMD3_ENST00000439090.2_Splice_Site|SAMD3_ENST00000324172.6_Splice_Site	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3											breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AACATACTCACTCTCGAGCTG	0.433																																						uc003qbv.2		NA																	0				ovary(1)	1						c.e5+1		sterile alpha motif domain containing 3 isoform							113.0	115.0	114.0					6																	130535481		2203	4300	6503	SO:0001630	splice_region_variant	154075							g.chr6:130535481C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.269+1G>A	6.37:g.130535481C>T						SAMD3_uc003qbx.2_Splice_Site_p.D90_splice|SAMD3_uc003qbw.2_Splice_Site_p.D90_splice|SAMD3_uc010kfg.1_Splice_Site_p.D90_splice|SAMD3_uc003qby.2_Splice_Site_p.D90_splice|SAMD3_uc003qbz.1_Splice_Site_p.D49_splice	p.D90_splice	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	5	595	-								B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Splice_Site	SNP	ENST00000368134.2	37	c.269_splice	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.074876	0.36566	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.855	0.86003	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SAMD3	130577174	0.993000	0.37304	0.942000	0.38095	0.261000	0.26267	4.702000	0.61817	2.651000	0.90000	0.643000	0.83706	.		0.433	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552	Intron	25	68	0	0	0	0	25	68				
SAMD3	154075	broad.mit.edu	37	6	130536394	130536394	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:130536394C>G	ENST00000368134.2	-	5	633	c.25G>C	c.(25-27)Gtc>Ctc	p.V9L	SAMD3_ENST00000532763.1_Missense_Mutation_p.V9L|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.V9L|SAMD3_ENST00000457563.2_Missense_Mutation_p.V33L|SAMD3_ENST00000439090.2_Missense_Mutation_p.V9L|SAMD3_ENST00000324172.6_Missense_Mutation_p.V9L	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	9	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.									breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CAACTGCAGACCTGCTCAACT	0.398																																						uc003qbv.2		NA																	0				ovary(1)	1						c.(25-27)GTC>CTC		sterile alpha motif domain containing 3 isoform							92.0	93.0	93.0					6																	130536394		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130536394C>G	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.25G>C	6.37:g.130536394C>G	ENSP00000357116:p.Val9Leu					SAMD3_uc003qbx.2_Missense_Mutation_p.V9L|SAMD3_uc003qbw.2_Missense_Mutation_p.V9L|SAMD3_uc010kfg.1_Missense_Mutation_p.V9L|SAMD3_uc003qby.2_Missense_Mutation_p.V9L|SAMD3_uc003qbz.1_5'UTR	p.V9L	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	4	351	-			9			SAM.		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.25G>C	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684192	0.88639	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763;ENST00000324172;ENST00000532309;ENST00000531544;ENST00000529723	T;T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;0.88	5.9	5.9	0.94986	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	D	0.000016	T	0.69233	0.3088	L	0.27053	0.805	0.47547	D	0.999455	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.73199	-0.4058	10	0.87932	D	0	.	18.4605	0.90736	0.0:1.0:0.0:0.0	.	33;9;9	B4DY20;Q8N6K7-2;Q8N6K7	.;.;SAMD3_HUMAN	L	9;33;9;9;9;9;9;9;9	ENSP00000357116:V9L;ENSP00000402092:V33L;ENSP00000403565:V9L;ENSP00000391163:V9L;ENSP00000436088:V9L;ENSP00000324874:V9L;ENSP00000436115:V9L;ENSP00000435875:V9L;ENSP00000434139:V9L	ENSP00000324874:V9L	V	-	1	0	SAMD3	130578087	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.800000	0.96347	0.643000	0.83706	GTC		0.398	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		10	41	0	0	0	0	10	41				
ENPP1	5167	broad.mit.edu	37	6	132172336	132172336	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:132172336G>T	ENST00000360971.2	+	4	505	c.485G>T	c.(484-486)aGc>aTc	p.S162I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	162	SMB 2. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|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)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTGACCAGAAGCCTCTGTGCC	0.458																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(484-486)AGC>ATC		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						156.0	148.0	151.0					6																	132172336		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132172336G>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.485G>T	6.37:g.132172336G>T	ENSP00000354238:p.Ser162Ile						p.S162I	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	4	505	+	Breast(56;0.0505)		162			Extracellular (Potential).|SMB 2.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.485G>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588064	0.46110	.	.	ENSG00000197594	ENST00000360971	T	0.45668	0.89	5.55	2.27	0.28462	Somatomedin B domain (3);	0.286130	0.31566	N	0.007439	T	0.37812	0.1017	M	0.80847	2.515	0.09310	N	1	P	0.49090	0.919	P	0.55749	0.783	T	0.31833	-0.9929	10	0.59425	D	0.04	-4.4788	4.9037	0.13788	0.2826:0.0:0.5698:0.1476	.	162	P22413	ENPP1_HUMAN	I	162	ENSP00000354238:S162I	ENSP00000354238:S162I	S	+	2	0	ENPP1	132214029	0.797000	0.28877	0.005000	0.12908	0.836000	0.47400	1.485000	0.35519	0.120000	0.18254	0.591000	0.81541	AGC		0.458	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			32	61	1	0	2.42e-17	4.8e-17	32	61				
STX7	8417	broad.mit.edu	37	6	132824653	132824653	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:132824653C>A	ENST00000367941.2	-	2	130	c.17G>T	c.(16-18)gGa>gTa	p.G6V	STX7_ENST00000448348.3_5'UTR|STX7_ENST00000367937.4_Missense_Mutation_p.G6V	NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	6					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ACCACCAACTCCTGGAGTGTA	0.413																																						uc003qdg.2		NA																	0					0						c.(16-18)GGA>GTA		syntaxin 7							145.0	137.0	140.0					6																	132824653		2203	4300	6503	SO:0001583	missense	8417				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	g.chr6:132824653C>A	U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.17G>T	6.37:g.132824653C>A	ENSP00000356918:p.Gly6Val					STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Missense_Mutation_p.G6V	p.G6V	NM_003569	NP_003560	O15400	STX7_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)	2	267	-	Breast(56;0.0615)		6			Cytoplasmic (Potential).		E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	ENST00000367941.2	37	c.17G>T	CCDS5153.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565705	0.65651	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255;ENST00000367937	T;T;T	0.35048	1.33;1.33;1.49	5.12	4.25	0.50352	t-SNARE (1);Syntaxin, N-terminal (1);	0.156004	0.56097	D	0.000024	T	0.36248	0.0960	L	0.54323	1.7	0.80722	D	1	D;D	0.62365	0.981;0.991	P;P	0.58970	0.849;0.654	T	0.29518	-1.0009	10	0.66056	D	0.02	-17.2665	10.0011	0.41929	0.0:0.9059:0.0:0.0941	.	6;6	B4DWC2;O15400	.;STX7_HUMAN	V	6	ENSP00000356918:G6V;ENSP00000412202:G6V;ENSP00000356914:G6V	ENSP00000309600:G6V	G	-	2	0	STX7	132866346	0.918000	0.31147	0.956000	0.39512	0.946000	0.59487	2.626000	0.46460	1.287000	0.44583	0.655000	0.94253	GGA		0.413	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042252.2			31	72	1	0	4.11e-13	7.7e-13	31	72				
VNN2	8875	broad.mit.edu	37	6	133072643	133072643	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:133072643C>G	ENST00000326499.6	-	5	965	c.841G>C	c.(841-843)Gca>Cca	p.A281P	VNN2_ENST00000526192.1_5'Flank|VNN2_ENST00000525289.1_Intron|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000525270.1_Missense_Mutation_p.A228P	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	281	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CCATTTGGTGCATAAATACCA	0.413																																						uc003qdt.2		NA																	0					0						c.(841-843)GCA>CCA		vanin 2 isoform 1 precursor							53.0	55.0	54.0					6																	133072643		2171	4169	6340	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133072643C>G	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.841G>C	6.37:g.133072643C>G	ENSP00000322276:p.Ala281Pro					VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Missense_Mutation_p.A228P	p.A281P	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	5	852	-			281			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.841G>C	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	C	7.180	0.589387	0.13812	.	.	ENSG00000112303	ENST00000326499;ENST00000525270	D;D	0.86297	-2.1;-2.1	5.35	1.5	0.22942	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.606091	0.15903	N	0.238997	D	0.87485	0.6189	M	0.92738	3.34	0.46701	D	0.999168	B	0.34214	0.442	P	0.46917	0.531	D	0.83854	0.0264	10	0.48119	T	0.1	-2.3359	4.6198	0.12444	0.2616:0.5262:0.0:0.2122	.	281	O95498	VNN2_HUMAN	P	281;228	ENSP00000322276:A281P;ENSP00000436822:A228P	ENSP00000322276:A281P	A	-	1	0	VNN2	133114336	0.002000	0.14202	0.271000	0.24616	0.286000	0.27126	-0.057000	0.11768	0.050000	0.15949	-0.170000	0.13304	GCA		0.413	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			23	45	0	0	0	0	23	45				
SLC18B1	116843	broad.mit.edu	37	6	133110904	133110904	+	Splice_Site	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:133110904C>G	ENST00000275227.4	-	4	448	c.352G>C	c.(352-354)Ggt>Cgt	p.G118R	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Splice_Site_p.W41S|SLC18B1_ENST00000460518.1_5'UTR	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	118					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											ATGACTTACCCAAAGAGAATT	0.308																																						uc003qdw.1		NA																	0				ovary(1)	1						c.(352-354)GGT>CGT		hypothetical protein LOC116843							96.0	100.0	98.0					6																	133110904		2203	4299	6502	SO:0001630	splice_region_variant	116843				transmembrane transport	integral to membrane		g.chr6:133110904C>G	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.353+1G>C	6.37:g.133110904C>G						C6orf192_uc011eco.1_Missense_Mutation_p.W41S	p.G118R	NM_052831	NP_439896	Q6NT16	CF192_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)	4	504	-			118			Helical; (Potential).		A8K1K3|B3KW77|Q6ISF2	Missense_Mutation	SNP	ENST00000275227.4	37	c.352G>C	CCDS5163.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821104|4.821104	0.90873|0.90873	.|.	.|.	ENSG00000146409|ENSG00000146409	ENST00000275227|ENST00000538764	T|T	0.62232|0.55930	0.04|0.49	5.61|5.61	5.61|5.61	0.85477|0.85477	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74997|0.74997	0.3790|0.3790	M|M	0.91510|0.91510	3.215|3.215	0.53688|0.53688	D|D	0.999972|0.999972	D|D	0.89917|0.69078	1.0|0.997	D|D	0.87578|0.67382	0.998|0.951	T|T	0.77621|0.77621	-0.2519|-0.2519	10|9	0.72032|0.48119	D|T	0.01|0.1	-14.7596|-14.7596	19.5968|19.5968	0.95544|0.95544	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	118|41	Q6NT16|B7Z1S5	CF192_HUMAN|.	R|S	118|41	ENSP00000275227:G118R|ENSP00000444098:W41S	ENSP00000275227:G118R|ENSP00000444098:W41S	G|W	-|-	1|2	0|0	C6orf192|C6orf192	133152597|133152597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.929000|6.929000	0.75852|0.75852	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.308	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1	NM_052831	Missense_Mutation	26	72	0	0	0	0	26	72				
KIAA1244	57221	broad.mit.edu	37	6	138576847	138576847	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:138576847C>A	ENST00000251691.4	+	10	1211	c.1045C>A	c.(1045-1047)Cga>Aga	p.R349R		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CCTCTACCACCGAGTGCTGCT	0.602																																						uc003qhu.2		NA																	0				ovary(1)|skin(1)	2						c.(1045-1047)CGA>AGA		brefeldin A-inhibited guanine							20.0	20.0	20.0					6																	138576847		2203	4299	6502	SO:0001819	synonymous_variant	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138576847C>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.1045C>A	6.37:g.138576847C>A							p.R349R	NM_020340	NP_065073	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	10	1045	+	Breast(32;0.135)		349						Silent	SNP	ENST00000251691.4	37	c.1045C>A	CCDS5189.2																																																																																				0.602	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		6	14	1	0	0.00116845	0.00172167	6	14				
ECT2L	345930	broad.mit.edu	37	6	139170518	139170518	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:139170518A>C	ENST00000423192.1	+	8	1177	c.1016A>C	c.(1015-1017)cAg>cCg	p.Q339P	ECT2L_ENST00000367682.2_Missense_Mutation_p.Q339P|ECT2L_ENST00000541398.1_Missense_Mutation_p.Q270P|ECT2L_ENST00000495970.1_3'UTR			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	339							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CAGAAGGCACAGAGCATCGGA	0.468			"""N, Splice, Mis"""		ETP ALL																																	uc003qif.1		NA		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(1015-1017)CAG>CCG		epithelial cell transforming sequence 2							126.0	117.0	120.0					6																	139170518		1906	4148	6054	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139170518A>C		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1016A>C	6.37:g.139170518A>C	ENSP00000387388:p.Gln339Pro					ECT2L_uc011edq.1_Missense_Mutation_p.Q270P	p.Q339P	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			7	1119	+			339					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.1016A>C	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.450361	0.63290	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.76839	0.07;0.07;-1.05	5.53	1.71	0.24356	.	0.000000	0.41194	U	0.000925	T	0.64583	0.2611	M	0.72118	2.19	0.31275	N	0.691335	D;D	0.56521	0.958;0.976	P;B	0.47981	0.563;0.36	T	0.62863	-0.6764	10	0.72032	D	0.01	3.74	5.257	0.15552	0.6905:0.1503:0.1593:0.0	.	270;339	F5H7S9;Q008S8	.;ECT2L_HUMAN	P	339;339;270	ENSP00000387388:Q339P;ENSP00000356655:Q339P;ENSP00000442307:Q270P	ENSP00000356655:Q339P	Q	+	2	0	ECT2L	139212211	1.000000	0.71417	0.655000	0.29622	0.962000	0.63368	1.834000	0.39171	0.113000	0.18004	0.482000	0.46254	CAG		0.468	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3	NM_001077706		21	62	0	0	0	0	21	62				
PLAGL1	5325	broad.mit.edu	37	6	144263314	144263314	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:144263314T>C	ENST00000360537.2	-	5	2552	c.639A>G	c.(637-639)aaA>aaG	p.K213K	PLAGL1_ENST00000429150.1_Silent_p.K213K|PLAGL1_ENST00000392307.1_Silent_p.K161K|PLAGL1_ENST00000437412.1_Silent_p.K161K|PLAGL1_ENST00000392309.1_Silent_p.K213K|PLAGL1_ENST00000354765.2_Silent_p.K213K|PLAGL1_ENST00000416623.1_Silent_p.K213K|PLAGL1_ENST00000367572.1_Silent_p.K161K|PLAGL1_ENST00000367571.1_Silent_p.K213K|PLAGL1_ENST00000444202.1_Silent_p.K213K			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	213					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GCAAGCTCTCTTTCATCAGCT	0.547											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003qjv.2		NA																	0				skin(1)	1						c.(637-639)AAA>AAG		pleiomorphic adenoma gene-like 1 isoform 1							117.0	109.0	112.0					6																	144263314		2203	4300	6503	SO:0001819	synonymous_variant	5325				cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:144263314T>C	U81992	CCDS5202.1, CCDS5203.1	6q24-q25	2013-01-08			ENSG00000118495	ENSG00000118495		"""Zinc fingers, C2H2-type"""	9046	protein-coding gene	gene with protein product		603044				9722527, 9671765	Standard	NM_006718		Approved	ZAC, LOT1	uc003qkf.3	Q9UM63	OTTHUMG00000015738	ENST00000360537.2:c.639A>G	6.37:g.144263314T>C			OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1685	PLAGL1_uc003qjx.2_Silent_p.K213K|PLAGL1_uc003qjy.2_Silent_p.K213K|PLAGL1_uc010khl.2_Silent_p.K213K|PLAGL1_uc010khm.2_Silent_p.K213K|PLAGL1_uc003qjz.2_Silent_p.K213K|PLAGL1_uc003qka.2_Silent_p.K213K|PLAGL1_uc003qkb.2_Silent_p.K161K|PLAGL1_uc003qkc.2_Silent_p.K213K|PLAGL1_uc003qkd.2_Silent_p.K161K|PLAGL1_uc003qke.2_Silent_p.K213K|PLAGL1_uc003qkf.2_Silent_p.K213K|PLAGL1_uc003qkg.2_Silent_p.K161K|PLAGL1_uc003qkh.2_Silent_p.K213K|PLAGL1_uc003qki.2_Silent_p.K161K|PLAGL1_uc003qkj.2_Silent_p.K213K|PLAGL1_uc003qkk.2_Silent_p.K161K|PLAGL1_uc003qkl.2_Silent_p.K161K|PLAGL1_uc003qkm.2_Silent_p.K213K|PLAGL1_uc010khn.2_Silent_p.K213K|PLAGL1_uc003qkn.2_Silent_p.K161K|PLAGL1_uc003qko.2_Silent_p.K213K|PLAGL1_uc003qkp.2_Silent_p.K161K|PLAGL1_uc003qjw.2_Silent_p.K161K	p.K213K	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)	3	1905	-			213					B2RBA4|B2RCM8|E1P595|E1P597|O76019|Q7Z3V8|Q92981|Q96JR9|Q9UIZ0	Silent	SNP	ENST00000360537.2	37	c.639A>G	CCDS5202.1																																																																																				0.547	PLAGL1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042541.1			41	107	0	0	0	0	41	107				
PCMT1	5110	broad.mit.edu	37	6	150094294	150094294	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:150094294G>T	ENST00000367380.5	+	3	388	c.181G>T	c.(181-183)Gct>Tct	p.A61S	PCMT1_ENST00000367384.2_Missense_Mutation_p.A119S|PCMT1_ENST00000544496.1_Missense_Mutation_p.A26S|PCMT1_ENST00000367378.1_Missense_Mutation_p.A119S|PCMT1_ENST00000464889.1_Missense_Mutation_p.A119S	NM_001252049.1|NM_001252050.1|NM_001252051.1|NM_001252052.1|NM_005389.2	NP_001238978.1|NP_001238979.1|NP_001238980.1|NP_001238981.1|NP_005380.2	P22061	PIMT_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase	61					protein methylation (GO:0006479)|protein repair (GO:0030091)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		AACAATCAGTGCTCCACACAT	0.303																																						uc003qne.2		NA																	0				ovary(1)	1						c.(355-357)GCT>TCT		protein-L-isoaspartate (D-aspartate)							128.0	134.0	132.0					6																	150094294		2203	4300	6503	SO:0001583	missense	5110							g.chr6:150094294G>T		CCDS5219.1, CCDS5219.2, CCDS59041.1, CCDS75533.1, CCDS75534.1	6q22.3-q24	2008-02-05			ENSG00000120265	ENSG00000120265	2.1.1.77		8728	protein-coding gene	gene with protein product		176851				1478665, 10343128	Standard	NM_005389		Approved		uc003qne.3	P22061	OTTHUMG00000015794	ENST00000367380.5:c.181G>T	6.37:g.150094294G>T	ENSP00000356350:p.Ala61Ser					PCMT1_uc003qna.2_Missense_Mutation_p.A119S|PCMT1_uc003qnb.2_Missense_Mutation_p.A119S|PCMT1_uc011eeg.1_Missense_Mutation_p.A84S|PCMT1_uc003qnc.2_5'UTR|PCMT1_uc003qnd.2_Missense_Mutation_p.A119S|PCMT1_uc003qnf.2_Missense_Mutation_p.A119S	p.A119S	NM_005389	NP_005380			BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)	3	388	+		Ovarian(120;0.0907)						A8K109|J3KP72|Q14661|Q16556|Q5VYC1|Q5VYC2|Q93061|Q96II9|Q99625|Q9BQV7|Q9BQV8|Q9NP03	Missense_Mutation	SNP	ENST00000367380.5	37	c.355G>T		.	.	.	.	.	.	.	.	.	.	G	28.5	4.929073	0.92389	.	.	ENSG00000120265	ENST00000367384;ENST00000367378;ENST00000464889;ENST00000367380;ENST00000544496;ENST00000495487	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;1.96	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.67211	0.2869	M	0.84846	2.72	0.80722	D	1	D;D;D	0.69078	0.973;0.997;0.994	P;D;D	0.79784	0.802;0.993;0.975	T	0.72646	-0.4230	10	0.72032	D	0.01	-11.1547	16.1767	0.81857	0.0:0.0:1.0:0.0	.	26;61;61	B7Z972;P22061-2;P22061	.;.;PIMT_HUMAN	S	119;119;119;61;26;30	ENSP00000356354:A119S;ENSP00000356348:A119S;ENSP00000420813:A119S;ENSP00000356350:A61S;ENSP00000438247:A26S;ENSP00000418881:A30S	ENSP00000356348:A119S	A	+	1	0	PCMT1	150135987	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.803000	0.91915	2.551000	0.86045	0.467000	0.42956	GCT		0.303	PCMT1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				20	45	1	0	6.21e-17	1.23e-16	20	45				
AKAP12	9590	broad.mit.edu	37	6	151670376	151670376	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:151670376C>A	ENST00000253332.1	+	3	1039	c.850C>A	c.(850-852)Ccg>Acg	p.P284T	AKAP12_ENST00000354675.6_Missense_Mutation_p.P186T|AKAP12_ENST00000402676.2_Missense_Mutation_p.P284T|AKAP12_ENST00000359755.5_Missense_Mutation_p.P179T|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	284	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCAGAATCTCCGACTAGTCC	0.483																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(850-852)CCG>ACG		A kinase (PRKA) anchor protein 12 isoform 1							46.0	49.0	48.0					6																	151670376		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670376C>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.850C>A	6.37:g.151670376C>A	ENSP00000253332:p.Pro284Thr					AKAP12_uc003qoe.2_Missense_Mutation_p.P284T|AKAP12_uc003qof.2_Missense_Mutation_p.P186T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.P179T	p.P284T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	1090	+		Ovarian(120;0.125)	284			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.850C>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204979	0.58234	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.13089	2.62;2.62;2.66;2.66	4.96	4.08	0.47627	.	0.000000	0.36740	N	0.002434	T	0.20536	0.0494	M	0.73598	2.24	0.40798	D	0.98331	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.984	T	0.04885	-1.0920	10	0.22109	T	0.4	.	10.3944	0.44192	0.0:0.7872:0.1356:0.0771	.	179;186;284	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	284;284;186;179	ENSP00000384537:P284T;ENSP00000253332:P284T;ENSP00000346702:P186T;ENSP00000352794:P179T	ENSP00000253332:P284T	P	+	1	0	AKAP12	151712069	0.019000	0.18553	0.120000	0.21714	0.011000	0.07611	1.591000	0.36665	1.399000	0.46721	0.650000	0.86243	CCG		0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			16	33	1	0	2.32e-05	3.65e-05	16	33				
AKAP12	9590	broad.mit.edu	37	6	151673277	151673277	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:151673277T>A	ENST00000253332.1	+	3	3940	c.3751T>A	c.(3751-3753)Tca>Aca	p.S1251T	AKAP12_ENST00000354675.6_Missense_Mutation_p.S1153T|AKAP12_ENST00000402676.2_Missense_Mutation_p.S1251T|AKAP12_ENST00000359755.5_Missense_Mutation_p.S1146T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1251					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TAAAGAGGTGTCAGTGGAAAC	0.438																																					Melanoma(141;1616 1805 10049 24534 51979)	uc011eep.1		NA																	0				large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8						c.(3751-3753)TCA>ACA		A kinase (PRKA) anchor protein 12 isoform 1							70.0	66.0	67.0					6																	151673277		2203	4300	6503	SO:0001583	missense	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151673277T>A	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3751T>A	6.37:g.151673277T>A	ENSP00000253332:p.Ser1251Thr					AKAP12_uc003qoe.2_Missense_Mutation_p.S1251T|AKAP12_uc003qof.2_Missense_Mutation_p.S1153T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.S1146T	p.S1251T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	3991	+		Ovarian(120;0.125)	1251					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	c.3751T>A	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	T	1.350	-0.591602	0.03799	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06849	3.25;3.25;3.26;3.26	5.11	-5.03	0.02973	.	0.582395	0.13087	N	0.414803	T	0.00815	0.0027	N	0.14661	0.345	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.022	B;B;B	0.17433	0.018;0.018;0.008	T	0.46762	-0.9168	10	0.09338	T	0.73	.	3.4216	0.07396	0.1198:0.174:0.476:0.2302	.	1146;1153;1251	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	T	1251;1251;1153;1146	ENSP00000384537:S1251T;ENSP00000253332:S1251T;ENSP00000346702:S1153T;ENSP00000352794:S1146T	ENSP00000253332:S1251T	S	+	1	0	AKAP12	151714970	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.424000	0.01029	-0.416000	0.07473	0.455000	0.32223	TCA		0.438	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			11	30	0	0	0	0	11	30				
ESR1	2099	broad.mit.edu	37	6	152382208	152382208	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:152382208C>T	ENST00000206249.3	+	6	1680	c.1318C>T	c.(1318-1320)Ctg>Ttg	p.L440L	ESR1_ENST00000338799.5_Silent_p.L440L|ESR1_ENST00000406599.1_Silent_p.L179L|ESR1_ENST00000427531.2_Silent_p.L267L|ESR1_ENST00000456483.2_Silent_p.L328L|ESR1_ENST00000440973.1_Silent_p.L440L|ESR1_ENST00000443427.1_Silent_p.L440L	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	440	Interaction with AKAP13.|Self-association.|Steroid-binding.|Transactivation AF-2.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CATGATGAATCTGCAGGGAGA	0.413																																						uc003qom.3		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)|breast(1)	5						c.(1318-1320)CTG>TTG		estrogen receptor alpha isoform 4	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)						136.0	125.0	129.0					6																	152382208		2203	4300	6503	SO:0001819	synonymous_variant	2099				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	g.chr6:152382208C>T	X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.1318C>T	6.37:g.152382208C>T						ESR1_uc010kin.2_Silent_p.L440L|ESR1_uc010kio.2_Silent_p.L442L|ESR1_uc010kip.2_Silent_p.L439L|ESR1_uc003qon.3_Silent_p.L440L|ESR1_uc003qoo.3_Silent_p.L440L|ESR1_uc010kiq.2_Silent_p.L38L|ESR1_uc010kir.2_Silent_p.L179L|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_RNA|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Silent_p.L109L|ESR1_uc011eex.1_Intron|ESR1_uc010kit.1_3'UTR|ESR1_uc011eey.1_Silent_p.L177L	p.L440L	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	8	1688	+		Ovarian(120;0.0448)	440			Steroid-binding.|Interaction with AKAP13.		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Silent	SNP	ENST00000206249.3	37	c.1318C>T	CCDS5234.1																																																																																				0.413	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043308.1			13	15	0	0	0	0	13	15				
SYNE1	23345	broad.mit.edu	37	6	152529267	152529267	+	Missense_Mutation	SNP	C	C	A	rs149366576		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:152529267C>A	ENST00000367255.5	-	125	23265	c.22664G>T	c.(22663-22665)cGg>cTg	p.R7555L	SYNE1_ENST00000356820.4_Missense_Mutation_p.R2079L|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7555L|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7484L|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7167L|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7484L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7555					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)		AATGATCCCCCGCCTCTGCTG	0.488										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.(22663-22665)CGG>CTG		spectrin repeat containing, nuclear envelope 1							87.0	84.0	85.0					6																	152529267		2203	4300	6503	SO:0001583	missense	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.chr6:152529267C>A	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.22664G>T	6.37:g.152529267C>A	ENSP00000356224:p.Arg7555Leu	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.R2079L|SYNE1_uc003qos.3_Missense_Mutation_p.R2079L|SYNE1_uc003qot.3_Missense_Mutation_p.R7484L|SYNE1_uc003qou.3_Missense_Mutation_p.R7555L|SYNE1_uc003qor.3_Missense_Mutation_p.R455L	p.R7555L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	125	23266	-		Ovarian(120;0.0955)	7555			HAT 11.|Cytoplasmic (Potential).|Spectrin 25.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.22664G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258015	0.80246	.	.	ENSG00000131018	ENST00000367255;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000367251	T;T;T;T;T;T;T;T	0.53857	1.32;0.6;1.32;1.32;1.32;1.32;0.6;0.6	5.58	5.58	0.84498	.	0.000000	0.56097	D	0.000030	T	0.62097	0.2400	M	0.67953	2.075	0.43808	D	0.996366	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.74348	0.934;0.934;0.983;0.961	T	0.63404	-0.6645	10	0.49607	T	0.09	.	12.854	0.57873	0.0:0.9257:0.0:0.0743	.	7555;7555;7484;7484	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9	SYNE1_HUMAN;.;.;.	L	7555;201;7484;7555;7484;7167;2079;477	ENSP00000356224:R7555L;ENSP00000356226:R201L;ENSP00000396024:R7484L;ENSP00000265368:R7555L;ENSP00000390975:R7484L;ENSP00000341887:R7167L;ENSP00000349276:R2079L;ENSP00000356220:R477L	ENSP00000265368:R7555L	R	-	2	0	SYNE1	152570960	0.796000	0.28864	0.363000	0.25875	0.997000	0.91878	4.982000	0.63825	2.618000	0.88619	0.563000	0.77884	CGG		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		30	53	1	0	2.61e-14	4.98e-14	30	53				
SYNE1	23345	broad.mit.edu	37	6	152725381	152725381	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:152725381T>G	ENST00000367255.5	-	46	7393	c.6792A>C	c.(6790-6792)ttA>ttC	p.L2264F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L2264F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L2271F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L2301F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L2271F|RP3-398G3.5_ENST00000458194.1_RNA	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2264					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)		GATTTTTAGTTAATTCTTTCA	0.328										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.(6790-6792)TTA>TTC		spectrin repeat containing, nuclear envelope 1							159.0	165.0	163.0					6																	152725381		2201	4297	6498	SO:0001583	missense	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.chr6:152725381T>G	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.6792A>C	6.37:g.152725381T>G	ENSP00000356224:p.Leu2264Phe	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.L2271F|SYNE1_uc003qou.3_Missense_Mutation_p.L2264F|SYNE1_uc010kjb.1_Missense_Mutation_p.L2247F	p.L2264F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	46	7394	-		Ovarian(120;0.0955)	2264			Potential.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.6792A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122650	0.37436	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	5.61	5.61	0.85477	.	0.000000	0.46442	D	0.000297	T	0.35068	0.0919	L	0.47716	1.5	0.80722	D	1	D;B;B;P	0.76494	0.999;0.097;0.097;0.954	D;B;B;P	0.65233	0.933;0.014;0.014;0.563	T	0.38112	-0.9676	10	0.52906	T	0.07	.	6.2454	0.20813	0.0:0.1948:0.0:0.8052	.	2247;2264;2264;2271	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	F	2264;2271;2264;2271;2301	ENSP00000356224:L2264F;ENSP00000396024:L2271F;ENSP00000265368:L2264F;ENSP00000390975:L2271F;ENSP00000341887:L2301F	ENSP00000265368:L2264F	L	-	3	2	SYNE1	152767074	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	0.857000	0.27831	2.263000	0.75096	0.377000	0.23210	TTA		0.328	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		40	63	0	0	0	0	40	63				
SYNE1	23345	broad.mit.edu	37	6	152831418	152831418	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:152831418G>A	ENST00000367255.5	-	8	1092	c.491C>T	c.(490-492)cCc>cTc	p.P164L	SYNE1_ENST00000367253.4_Missense_Mutation_p.P164L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P164L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P171L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P164L|SYNE1_ENST00000367248.3_Missense_Mutation_p.P171L|SYNE1_ENST00000423061.1_Missense_Mutation_p.P171L|SYNE1_ENST00000413186.2_Missense_Mutation_p.P164L|SYNE1_ENST00000466159.2_Missense_Mutation_p.P164L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	164	Actin-binding.				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)		TGGTGGGCTGGGAGTCTCAGA	0.493										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.(490-492)CCC>CTC		spectrin repeat containing, nuclear envelope 1							180.0	159.0	166.0					6																	152831418		2203	4300	6503	SO:0001583	missense	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.chr6:152831418G>A	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.491C>T	6.37:g.152831418G>A	ENSP00000356224:p.Pro164Leu	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.P171L|SYNE1_uc003qou.3_Missense_Mutation_p.P164L|SYNE1_uc010kjb.1_Missense_Mutation_p.P164L|SYNE1_uc003qpa.1_Missense_Mutation_p.P164L	p.P164L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	8	1093	-		Ovarian(120;0.0955)	164			Actin-binding.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.491C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411234	0.42817	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.92048	0.47;0.46;0.38;0.46;0.6;-2.36;-2.47;-2.49;-2.79;-2.96	5.66	3.73	0.42828	Calponin homology domain (1);	0.690450	0.13612	N	0.375033	D	0.83078	0.5176	L	0.33189	0.99	0.80722	D	1	B;B;B;B;B	0.15930	0.007;0.008;0.015;0.008;0.014	B;B;B;B;B	0.20577	0.009;0.008;0.029;0.008;0.03	T	0.78409	-0.2215	10	0.48119	T	0.1	.	15.5596	0.76234	0.0:0.2611:0.7389:0.0	.	164;164;164;164;171	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	L	164;171;164;171;164;164;171;164;164;164	ENSP00000356224:P164L;ENSP00000396024:P171L;ENSP00000265368:P164L;ENSP00000390975:P171L;ENSP00000341887:P164L;ENSP00000356222:P164L;ENSP00000356217:P171L;ENSP00000414510:P164L;ENSP00000446021:P164L;ENSP00000441264:P164L	ENSP00000265368:P164L	P	-	2	0	SYNE1	152873111	1.000000	0.71417	0.919000	0.36401	0.731000	0.41821	2.950000	0.49081	1.363000	0.46019	0.637000	0.83480	CCC		0.493	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	66	0	0	0	0	25	66				
CNKSR3	154043	broad.mit.edu	37	6	154762449	154762449	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:154762449C>G	ENST00000607772.1	-	4	1028	c.484G>C	c.(484-486)Gac>Cac	p.D162H	CNKSR3_ENST00000479339.1_Missense_Mutation_p.D82H	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	162	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GTGGTCAGGTCCAAGCAAAGC	0.373																																						uc003qpy.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(484-486)GAC>CAC		CNKSR family member 3							125.0	123.0	124.0					6																	154762449		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154762449C>G	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.484G>C	6.37:g.154762449C>G	ENSP00000475915:p.Asp162His						p.D162H	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	4	989	-		Ovarian(120;0.196)	162			CRIC.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.484G>C	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965651	0.92855	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	T;T	0.50277	1.35;0.75	5.91	5.91	0.95273	CRIC domain (1);CRIC domain, Chordata (1);	0.049964	0.85682	D	0.000000	T	0.55689	0.1936	L	0.40543	1.245	0.58432	D	0.99999	D	0.71674	0.998	D	0.66847	0.947	T	0.57057	-0.7876	10	0.87932	D	0	.	20.2982	0.98569	0.0:1.0:0.0:0.0	.	162	Q6P9H4	CNKR3_HUMAN	H	162;82	ENSP00000356182:D162H;ENSP00000418975:D82H	ENSP00000356182:D162H	D	-	1	0	CNKSR3	154804141	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.474000	0.81024	2.803000	0.96430	0.655000	0.94253	GAC		0.373	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		35	76	0	0	0	0	35	76				
SERAC1	84947	broad.mit.edu	37	6	158569896	158569896	+	Splice_Site	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:158569896C>G	ENST00000367104.3	-	5	487		c.e5+1		SERAC1_ENST00000367102.2_Splice_Site|SERAC1_ENST00000367101.1_Splice_Site|SERAC1_ENST00000607000.1_Splice_Site	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1						extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TGGATATTTACCAGCAAATGG	0.338																																						uc003qrc.2		NA																	0					0						c.e5+1		serine active site containing 1							145.0	117.0	126.0					6																	158569896		2203	4300	6503	SO:0001630	splice_region_variant	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158569896C>G	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.355+1G>C	6.37:g.158569896C>G						SERAC1_uc003qrb.2_Splice_Site	p.D119_splice	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	5	497	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)						Q49AT1|Q5VTX3|Q6PKF3	Splice_Site	SNP	ENST00000367104.3	37	c.355_splice	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473555	0.43942	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4078	0.90541	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SERAC1	158489884	1.000000	0.71417	0.999000	0.59377	0.255000	0.26057	4.627000	0.61276	2.648000	0.89879	0.585000	0.79938	.		0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861	Intron	9	29	0	0	0	0	9	29				
T	6862	broad.mit.edu	37	6	166571922	166571922	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:166571922C>A	ENST00000296946.2	-	9	1657	c.1189G>T	c.(1189-1191)Gga>Tga	p.G397*	T_ENST00000366871.3_Nonsense_Mutation_p.G339*	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	397					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		AGTGGGGATCCCGAGGAAGAG	0.692									Chordoma, Familial Clustering of																													uc003quu.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1189-1191)GGA>TGA		transcription factor T							56.0	65.0	62.0					6																	166571922		2202	4298	6500	SO:0001587	stop_gained	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166571922C>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1189G>T	6.37:g.166571922C>A	ENSP00000296946:p.Gly397*					T_uc003qut.1_Nonsense_Mutation_p.G398*|T_uc003quv.1_Nonsense_Mutation_p.G339*	p.G397*	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1682	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	397					E7ERD6|Q4KMP4	Nonsense_Mutation	SNP	ENST00000296946.2	37	c.1189G>T	CCDS5290.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605926	0.87157	.	.	ENSG00000164458	ENST00000366876;ENST00000296946;ENST00000366871	.	.	.	4.92	4.05	0.47172	.	0.864595	0.09502	N	0.793477	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	10.7406	0.46152	0.0:0.8388:0.0:0.1612	.	.	.	.	X	397;397;339	.	ENSP00000296946:G397X	G	-	1	0	T	166491912	0.997000	0.39634	0.000000	0.03702	0.015000	0.08874	4.038000	0.57318	1.176000	0.42840	0.655000	0.94253	GGA		0.692	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		21	69	1	0	9.96e-16	1.94e-15	21	69				
KIF25	3834	broad.mit.edu	37	6	168434642	168434642	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:168434642G>A	ENST00000443060.2	+	5	639	c.248G>A	c.(247-249)gGc>gAc	p.G83D	KIF25_ENST00000351261.3_Missense_Mutation_p.G83D|KIF25_ENST00000354419.2_Missense_Mutation_p.G83D			Q9UIL4	KIF25_HUMAN	kinesin family member 25	83	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCGGACGACGGCCCTGTTCTG	0.527																																						uc003qwk.1		NA																	0				ovary(1)|pancreas(1)	2						c.(247-249)GGC>GAC		kinesin family member 25 isoform 1							121.0	104.0	110.0					6																	168434642		2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168434642G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.248G>A	6.37:g.168434642G>A	ENSP00000388878:p.Gly83Asp					KIF25_uc003qwl.1_Missense_Mutation_p.G83D	p.G83D	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	4	510	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	83			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.248G>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	2.214	-0.380047	0.05000	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.75821	-0.97;-0.97;-0.18	3.71	-2.52	0.06346	Kinesin, motor domain (4);	0.928471	0.09001	N	0.862967	T	0.19685	0.0473	N	0.02103	-0.685	0.09310	N	1	B;B	0.13145	0.007;0.006	B;B	0.15052	0.005;0.012	T	0.22626	-1.0211	10	0.17369	T	0.5	-11.8718	7.8072	0.29209	0.5811:0.0:0.4189:0.0	.	83;83	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	D	83	ENSP00000388878:G83D;ENSP00000346401:G83D;ENSP00000252688:G83D	ENSP00000252688:G83D	G	+	2	0	KIF25	168177491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.281000	0.18810	-0.614000	0.05687	-1.036000	0.02392	GGC		0.527	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			17	39	0	0	0	0	17	39				
SDK1	221935	broad.mit.edu	37	7	4091359	4091359	+	Silent	SNP	G	G	C	rs371822024		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:4091359G>C	ENST00000404826.2	+	19	2947	c.2808G>C	c.(2806-2808)acG>acC	p.T936T	SDK1_ENST00000389531.3_Silent_p.T936T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	936	Fibronectin type-III 3. {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)		GACACATAACGAACCTGAAGA	0.577																																						uc003smx.2		NA																	0				large_intestine(3)|ovary(2)|skin(1)	6						c.(2806-2808)ACG>ACC		sidekick 1 precursor							158.0	141.0	147.0					7																	4091359		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4091359G>C	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.2808G>C	7.37:g.4091359G>C						SDK1_uc010kso.2_Silent_p.T212T	p.T936T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	19	2947	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	936			Fibronectin type-III 3.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2808G>C	CCDS34590.1																																																																																				0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		40	83	0	0	0	0	40	83				
AP5Z1	9907	broad.mit.edu	37	7	4830976	4830976	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:4830976G>T	ENST00000348624.4	+	17	2478	c.2384G>T	c.(2383-2385)aGc>aTc	p.S795I	AP5Z1_ENST00000490487.1_3'UTR|MIR4656_ENST00000579503.1_RNA	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	795					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											CGCACGGTCAGCCGGCTGGTG	0.672																																						uc003sne.2		NA																	0				central_nervous_system(1)	1						c.(2383-2385)AGC>ATC		hypothetical protein LOC9907							15.0	19.0	18.0					7																	4830976		2034	4176	6210	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4830976G>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.2384G>T	7.37:g.4830976G>T	ENSP00000297562:p.Ser795Ile					KIAA0415_uc010ksp.2_RNA|KIAA0415_uc003snf.2_Missense_Mutation_p.S272I	p.S795I	NM_014855	NP_055670	O43299	K0415_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.091)|OV - Ovarian serous cystadenocarcinoma(56;8.35e-15)	17	2467	+		Ovarian(82;0.0175)	795					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.2384G>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.440525	0.63067	.	.	ENSG00000242802	ENST00000348624	T	0.49139	0.79	5.31	2.43	0.29744	.	.	.	.	.	T	0.61739	0.2371	M	0.81682	2.555	0.80722	D	1	P;D	0.63880	0.868;0.993	B;P	0.57101	0.406;0.813	T	0.63510	-0.6621	9	0.87932	D	0	.	10.2656	0.43453	0.075:0.4087:0.5164:0.0	.	1506;795	A4D1Z4;O43299	.;K0415_HUMAN	I	795	ENSP00000297562:S795I	ENSP00000297562:S795I	S	+	2	0	KIAA0415	4797502	1.000000	0.71417	0.766000	0.31476	0.653000	0.38743	1.840000	0.39230	0.201000	0.20466	-0.176000	0.13171	AGC		0.672	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			8	7	1	0	1.13e-05	1.8e-05	8	7				
USP42	84132	broad.mit.edu	37	7	6189425	6189425	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:6189425G>T	ENST00000306177.5	+	13	1756	c.1598G>T	c.(1597-1599)cGc>cTc	p.R533L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	533					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.R661L(1)|p.R533L(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TTGCCTGTTCGCCAGTGTCAG	0.428																																						uc011jwo.1		NA																	2	Substitution - Missense(2)		endometrium(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(1597-1599)CGC>CTC		ubiquitin specific peptidase 42							113.0	109.0	111.0					7																	6189425		1912	4123	6035	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189425G>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1598G>T	7.37:g.6189425G>T	ENSP00000301962:p.Arg533Leu					USP42_uc010kth.1_Missense_Mutation_p.R466L|USP42_uc011jwp.1_Missense_Mutation_p.R533L|USP42_uc011jwq.1_Missense_Mutation_p.R340L|USP42_uc011jwr.1_Missense_Mutation_p.R378L	p.R533L	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	1721	+		Ovarian(82;0.0423)	533					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.1598G>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671231	0.67814	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.21361	2.01;2.82;2.42	5.93	5.05	0.67936	.	0.083348	0.52532	D	0.000065	T	0.31827	0.0809	M	0.69823	2.125	0.34588	D	0.715225	D;P;D;P	0.54601	0.967;0.946;0.967;0.561	P;P;B;B	0.47673	0.554;0.534;0.334;0.103	T	0.53258	-0.8464	10	0.52906	T	0.07	.	13.7036	0.62624	0.0713:0.0:0.9287:0.0	.	496;533;533;533	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	L	533;466;379	ENSP00000301962:R533L;ENSP00000430568:R466L;ENSP00000408217:R379L	ENSP00000301962:R533L	R	+	2	0	USP42	6155951	0.996000	0.38824	0.869000	0.34112	0.559000	0.35586	4.281000	0.58965	1.525000	0.49052	0.591000	0.81541	CGC		0.428	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526		21	49	1	0	8.34e-07	1.37e-06	21	49				
C1GALT1	56913	broad.mit.edu	37	7	7278538	7278538	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:7278538T>A	ENST00000223122.3	+	2	935	c.873T>A	c.(871-873)taT>taA	p.Y291*	C1GALT1_ENST00000402468.3_Nonsense_Mutation_p.Y291*|C1GALT1_ENST00000436587.2_Nonsense_Mutation_p.Y291*			Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1	291					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|kidney development (GO:0001822)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity (GO:0016263)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ATTACAACTATTATCCTCCTG	0.313																																						uc010ktn.2		NA																	0					0						c.(871-873)TAT>TAA		core 1 synthase,							28.0	26.0	27.0					7																	7278538		2200	4291	6491	SO:0001587	stop_gained	56913				angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding	g.chr7:7278538T>A	AF155582	CCDS5355.1	7p21.3	2014-06-24	2014-06-24		ENSG00000106392	ENSG00000106392	2.4.1.122	"""Beta 3-glycosyltransferases"""	24337	protein-coding gene	gene with protein product	"""core 1 beta3-Gal-T"""	610555				10580128, 11677243	Standard	NM_020156		Approved	C1GALT, T-synthase	uc003srb.3	Q9NS00	OTTHUMG00000151912	ENST00000223122.3:c.873T>A	7.37:g.7278538T>A	ENSP00000223122:p.Tyr291*					C1GALT1_uc003sra.2_Nonsense_Mutation_p.Y291*|C1GALT1_uc010kto.1_Nonsense_Mutation_p.Y291*	p.Y291*	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	3	1096	+			291			Lumenal (Potential).		Q96QH4|Q9BTU1	Nonsense_Mutation	SNP	ENST00000223122.3	37	c.873T>A	CCDS5355.1	.	.	.	.	.	.	.	.	.	.	T	36	5.608365	0.96626	.	.	ENSG00000106392	ENST00000436587;ENST00000223122;ENST00000402468	.	.	.	5.43	1.59	0.23543	.	0.307238	0.36740	N	0.002438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7409	10.1775	0.42948	0.0:0.2745:0.0:0.7255	.	.	.	.	X	291	.	.	Y	+	3	2	C1GALT1	7245063	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.964000	0.29306	0.417000	0.25871	0.528000	0.53228	TAT		0.313	C1GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324379.2	NM_020156		10	26	0	0	0	0	10	26				
ARL4A	10124	broad.mit.edu	37	7	12728069	12728069	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:12728069G>C	ENST00000396663.1	+	2	672	c.190G>C	c.(190-192)Gga>Cga	p.G64R	ARL4A_ENST00000404894.1_Missense_Mutation_p.G64R|ARL4A_ENST00000396664.2_Missense_Mutation_p.G64R|ARL4A_ENST00000396662.1_Missense_Mutation_p.G64R|ARL4A_ENST00000356797.3_Missense_Mutation_p.G64R	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	64					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GGTAACCTTGGGAAATTCTAA	0.398																																						uc003ssp.2		NA																	0					0						c.(190-192)GGA>CGA		ADP-ribosylation factor-like 4A							59.0	58.0	58.0					7																	12728069		2203	4299	6502	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728069G>C	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.190G>C	7.37:g.12728069G>C	ENSP00000379898:p.Gly64Arg					ARL4A_uc003ssq.2_Missense_Mutation_p.G64R|ARL4A_uc003ssr.2_Missense_Mutation_p.G64R|ARL4A_uc003sss.2_Missense_Mutation_p.G64R	p.G64R	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	467	+			64					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.190G>C	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696928	0.48202	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000396663;ENST00000404894	D;D;D;D;D	0.83250	-1.7;-1.7;-1.7;-1.7;-1.7	4.6	4.6	0.57074	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83501	0.5268	M	0.68317	2.08	0.58432	D	0.999998	B	0.32467	0.372	B	0.35278	0.199	D	0.85298	0.1071	10	0.87932	D	0	.	18.0431	0.89324	0.0:0.0:1.0:0.0	.	64	P40617	ARL4A_HUMAN	R	64	ENSP00000379897:G64R;ENSP00000349250:G64R;ENSP00000379899:G64R;ENSP00000379898:G64R;ENSP00000385236:G64R	ENSP00000349250:G64R	G	+	1	0	ARL4A	12694594	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.262000	0.65501	2.575000	0.86900	0.549000	0.68633	GGA		0.398	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1	NM_005738		12	48	0	0	0	0	12	48				
HOXA7	3204	broad.mit.edu	37	7	27196162	27196162	+	Start_Codon_SNP	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:27196162C>T	ENST00000242159.3	-	1	136	c.3G>A	c.(1-3)atG>atA	p.M1I	RP1-170O19.21_ENST00000602610.1_lincRNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA7_ENST00000523796.2_5'Flank	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	1					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						ACGAAGAACTCATAATTTTGA	0.443																																						uc003sys.2		NA																	0					0						c.(1-3)ATG>ATA		homeobox A7							69.0	81.0	77.0					7																	27196162		2194	4279	6473	SO:0001582	initiator_codon_variant	3204				angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	g.chr7:27196162C>T		CCDS5408.1	7p15.2	2011-06-20	2005-12-22		ENSG00000122592	ENSG00000122592		"""Homeoboxes / ANTP class : HOXL subclass"""	5108	protein-coding gene	gene with protein product		142950	"""homeo box A7"""	HOX1A, HOX1		1973146, 1358459	Standard	NM_006896		Approved		uc003sys.3	P31268	OTTHUMG00000023217	ENST00000242159.3:c.3G>A	7.37:g.27196162C>T	ENSP00000242159:p.Met1Ile						p.M1I	NM_006896	NP_008827	P31268	HXA7_HUMAN			1	135	-			1					A4D191|O43368|O43486|O95655|Q9NSC8|Q9UDM1	Missense_Mutation	SNP	ENST00000242159.3	37	c.3G>A	CCDS5408.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812549	0.90707	.	.	ENSG00000122592	ENST00000242159;ENST00000519842	T;T	0.63417	0.95;-0.04	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.80813	0.4695	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.83295	-0.0031	9	0.87932	D	0	.	19.1283	0.93394	0.0:1.0:0.0:0.0	.	1	P31268	HXA7_HUMAN	I	1	ENSP00000242159:M1I;ENSP00000428563:M1I	ENSP00000242159:M1I	M	-	3	0	HOXA7	27162687	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.976000	0.70484	2.599000	0.87857	0.561000	0.74099	ATG		0.443	HOXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358695.1		Missense_Mutation	30	97	0	0	0	0	30	97				
CCDC129	223075	broad.mit.edu	37	7	31682573	31682573	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:31682573G>A	ENST00000407970.3	+	11	1627	c.1589G>A	c.(1588-1590)aGg>aAg	p.R530K	CCDC129_ENST00000451887.2_Missense_Mutation_p.R556K|CCDC129_ENST00000409210.1_Missense_Mutation_p.R438K|CCDC129_ENST00000319386.3_Missense_Mutation_p.R382K	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	530										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ACCACCACGAGGGGAGAATGC	0.547																																						uc003tcj.1		NA																	0					0						c.(1588-1590)AGG>AAG		coiled-coil domain containing 129							128.0	124.0	125.0					7																	31682573		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31682573G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1589G>A	7.37:g.31682573G>A	ENSP00000384416:p.Arg530Lys					CCDC129_uc011kad.1_Missense_Mutation_p.R540K|CCDC129_uc003tci.1_Missense_Mutation_p.R381K|CCDC129_uc011kae.1_Missense_Mutation_p.R556K|CCDC129_uc003tck.1_Missense_Mutation_p.R438K	p.R530K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	2582	+			530					A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.1589G>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581531	0.28180	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.16743	2.32;2.58;2.58;2.32	5.62	0.247	0.15521	.	1.606950	0.03412	N	0.204952	T	0.11965	0.0291	L	0.44542	1.39	0.09310	N	1	P;B;B;P	0.45474	0.667;0.063;0.063;0.859	B;B;B;B	0.38755	0.209;0.037;0.037;0.281	T	0.21586	-1.0241	10	0.05620	T	0.96	-19.6142	4.7638	0.13121	0.1648:0.0:0.3885:0.4467	.	556;540;530;382	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	K	382;530;556;540;438	ENSP00000313062:R382K;ENSP00000384416:R530K;ENSP00000395835:R556K;ENSP00000387214:R438K	ENSP00000313062:R382K	R	+	2	0	CCDC129	31649098	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.069000	0.14552	0.025000	0.15241	-0.229000	0.12294	AGG		0.547	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		56	125	0	0	0	0	56	125				
PDE1C	5137	broad.mit.edu	37	7	31890356	31890356	+	Splice_Site	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:31890356C>G	ENST00000396191.1	-	8	1206		c.e8-1		PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000396184.3_Splice_Site|PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TCAGCCAGTTCTGAAAGGAGA	0.468																																						uc003tcm.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.e8-1		phosphodiesterase 1C							120.0	109.0	113.0					7																	31890356		2203	4300	6503	SO:0001630	splice_region_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31890356C>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.751-1G>C	7.37:g.31890356C>G						PDE1C_uc003tcn.1_Splice_Site_p.N251_splice|PDE1C_uc003tco.1_Splice_Site_p.N311_splice|PDE1C_uc003tcr.2_Splice_Site_p.N251_splice|PDE1C_uc003tcs.2_Splice_Site_p.N251_splice	p.N251_splice	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		8	1220	-								B3KPC6|E9PE92|Q14124|Q8NB10	Splice_Site	SNP	ENST00000396191.1	37	c.751_splice	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395384	0.83011	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9008	0.96985	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDE1C	31856881	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.805000	0.96524	0.651000	0.88453	.		0.468	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1		Intron	17	44	0	0	0	0	17	44				
PDE1C	5137	broad.mit.edu	37	7	31917614	31917614	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:31917614C>G	ENST00000396191.1	-	5	916	c.461G>C	c.(460-462)aGc>aCc	p.S154T	PDE1C_ENST00000396182.2_Missense_Mutation_p.S154T|PDE1C_ENST00000396184.3_Missense_Mutation_p.S154T|PDE1C_ENST00000321453.7_Missense_Mutation_p.S154T|PDE1C_ENST00000396193.1_Missense_Mutation_p.S214T	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	154					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	TGGTGGATAGCTCAGTCCAAC	0.338																																						uc003tcm.1		NA																	0				skin(3)|central_nervous_system(1)	4						c.(460-462)AGC>ACC		phosphodiesterase 1C							124.0	115.0	118.0					7																	31917614		2203	4300	6503	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31917614C>G	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.461G>C	7.37:g.31917614C>G	ENSP00000379494:p.Ser154Thr					PDE1C_uc003tcn.1_Missense_Mutation_p.S154T|PDE1C_uc003tco.1_Missense_Mutation_p.S214T|PDE1C_uc003tcr.2_Missense_Mutation_p.S154T|PDE1C_uc003tcs.2_Missense_Mutation_p.S154T	p.S154T	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		5	930	-			154					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396191.1	37	c.461G>C	CCDS55099.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822548	0.50739	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.75	5.75	0.90469	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.57888	0.2084	N	0.03016	-0.435	0.58432	D	0.999999	B;B;P	0.50156	0.006;0.059;0.932	B;B;B	0.40165	0.036;0.028;0.321	T	0.63382	-0.6650	10	0.23891	T	0.37	.	19.5356	0.95253	0.0:1.0:0.0:0.0	.	154;214;154	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	T	214;154;154;154;154	ENSP00000379496:S214T;ENSP00000379494:S154T;ENSP00000318105:S154T;ENSP00000379487:S154T;ENSP00000379485:S154T	ENSP00000318105:S154T	S	-	2	0	PDE1C	31884139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.973000	0.40550	2.716000	0.92895	0.650000	0.86243	AGC		0.338	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			6	28	0	0	0	0	6	28				
AVL9	23080	broad.mit.edu	37	7	32590986	32590986	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:32590986C>T	ENST00000318709.4	+	5	634	c.413C>T	c.(412-414)aCa>aTa	p.T138I	AVL9_ENST00000404479.1_Missense_Mutation_p.T138I|AVL9_ENST00000409301.1_Missense_Mutation_p.T138I	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	138					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAACTCATTACACATGCATAT	0.308																																						uc003tcv.1		NA																	0					0						c.(412-414)ACA>ATA		AVL9 homolog (S. cerevisiase)							108.0	111.0	110.0					7																	32590986		2203	4294	6497	SO:0001583	missense	23080					integral to membrane		g.chr7:32590986C>T	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.413C>T	7.37:g.32590986C>T	ENSP00000315568:p.Thr138Ile					AVL9_uc011kai.1_Missense_Mutation_p.T138I|AVL9_uc010kwj.1_5'UTR	p.T138I	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			5	559	+			138					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.413C>T	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132414	0.94473	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73999	0.3659	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.73691	-0.3903	10	0.48119	T	0.1	-10.2362	19.6159	0.95633	0.0:1.0:0.0:0.0	.	138;138	Q8N6Z3;Q8NBF6	.;AVL9_HUMAN	I	138;138;138;138;69	ENSP00000315568:T138I;ENSP00000387011:T138I;ENSP00000385242:T138I;ENSP00000395134:T69I	ENSP00000315568:T138I	T	+	2	0	AVL9	32557511	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.644000	0.89710	0.467000	0.42956	ACA		0.308	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		16	102	0	0	0	0	16	102				
HERPUD2	64224	broad.mit.edu	37	7	35673920	35673920	+	Splice_Site	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:35673920A>G	ENST00000396081.1	-	7	1864		c.e7+1		HERPUD2_ENST00000311350.3_Splice_Site|HERPUD2_ENST00000426180.1_5'Flank	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2						response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TCAATCACATACCATTTCTTC	0.393																																						uc003tet.2		NA																	0				ovary(3)	3						c.e7+1		HERPUD family member 2							209.0	193.0	198.0					7																	35673920		2203	4300	6503	SO:0001630	splice_region_variant	64224				response to unfolded protein	integral to membrane		g.chr7:35673920A>G	BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.1059+1T>C	7.37:g.35673920A>G						HERPUD2_uc003tes.3_Splice_Site_p.M353_splice	p.M353_splice	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN			7	1864	-								A4D1Y8|Q9H6F9	Splice_Site	SNP	ENST00000396081.1	37	c.1059_splice	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.099558	0.76983	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6083	0.76692	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HERPUD2	35640445	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.666000	0.83877	2.167000	0.68274	0.455000	0.32223	.		0.393	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	Intron	12	34	0	0	0	0	12	34				
NME8	51314	broad.mit.edu	37	7	37903047	37903047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:37903047C>A	ENST00000199447.4	+	8	809	c.437C>A	c.(436-438)tCa>tAa	p.S146*	NME8_ENST00000440017.1_Nonsense_Mutation_p.S146*|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	146					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AGTGAAGAATCACCATGTGAA	0.348																																						uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(436-438)TCA>TAA		thioredoxin domain containing 3							109.0	115.0	113.0					7																	37903047		2203	4300	6503	SO:0001587	stop_gained	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37903047C>A	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.437C>A	7.37:g.37903047C>A	ENSP00000199447:p.Ser146*						p.S146*	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			8	809	+			146					Q9NZH1	Nonsense_Mutation	SNP	ENST00000199447.4	37	c.437C>A	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904556	0.33628	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	.	.	.	3.61	-7.22	0.01485	.	3.091140	0.00875	N	0.002078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	1.1045	4.9834	0.14178	0.1038:0.1353:0.5133:0.2476	.	.	.	.	X	146;91;91;146	.	ENSP00000199447:S146X	S	+	2	0	TXNDC3	37869572	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.885000	0.00342	-2.584000	0.00460	-0.282000	0.10007	TCA		0.348	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		20	59	1	0	2.94e-08	5.05e-08	20	59				
NME8	51314	broad.mit.edu	37	7	37934211	37934211	+	Splice_Site	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:37934211G>C	ENST00000199447.4	+	16	1915	c.1543G>C	c.(1543-1545)Gtg>Ctg	p.V515L	NME8_ENST00000440017.1_Splice_Site_p.V515L|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	515	NDK 3.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AATGTTATCTGTGTAAGTTTC	0.254																																						uc003tfn.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(1543-1545)GTG>CTG		thioredoxin domain containing 3							28.0	29.0	28.0					7																	37934211		2196	4291	6487	SO:0001630	splice_region_variant	51314	Kartagener_syndrome			cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37934211G>C	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1544+1G>C	7.37:g.37934211G>C							p.V515L	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			16	1915	+			515			NDK 3.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1543G>C	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	7.822	0.718071	0.15372	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.41065	1.01;1.01	4.05	3.13	0.36017	.	0.831882	0.10275	N	0.694207	T	0.21347	0.0514	N	0.03608	-0.345	0.19300	N	0.999974	B	0.02656	0.0	B	0.01281	0.0	T	0.14896	-1.0456	10	0.49607	T	0.09	-2.7505	8.8497	0.35192	0.0:0.0:0.766:0.234	.	515	Q8N427	TXND3_HUMAN	L	515	ENSP00000199447:V515L;ENSP00000397063:V515L	ENSP00000199447:V515L	V	+	1	0	TXNDC3	37900736	1.000000	0.71417	0.909000	0.35828	0.320000	0.28249	2.293000	0.43558	1.226000	0.43582	0.467000	0.42956	GTG		0.254	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	Missense_Mutation	5	13	0	0	0	0	5	13				
SFRP4	6424	broad.mit.edu	37	7	37951857	37951858	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:37951857_37951858CC>AG	ENST00000436072.2	-	4	1031_1032	c.654_655GG>CT	c.(652-657)gtGGat>gtCTat	p.D219Y	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	219	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCTTTTACATCCACCACCGTTG	0.431																																						uc003tfo.3		NA																	0				lung(1)	1						c.(652-657)GTGGAT>GTCTAT		secreted frizzled-related  protein 4 precursor																																				SO:0001583	missense	6424				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr7:37951857_37951858CC>AG	AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.654_655delinsAG	7.37:g.37951857_37951858delinsAG	ENSP00000410715:p.Asp219Tyr						p.D219Y	NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN			4	1040_1041	-			219			NTR.		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	DNP	ENST00000436072.2	37	c.654_655GG>CT	CCDS5453.1																																																																																				0.431	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014		18	47	0	0	0	0	18	47				
SUGCT	79783	broad.mit.edu	37	7	40234623	40234623	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:40234623G>C	ENST00000335693.4	+	6	492	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	C7orf10_ENST00000309930.5_Missense_Mutation_p.E157Q|C7orf10_ENST00000401647.2_Missense_Mutation_p.E157Q|C7orf10_ENST00000540834.1_Missense_Mutation_p.E150Q	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		157					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)	p.E157*(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGATATAGACGAGATTGCTCC	0.428																																						uc003thn.1		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(448-450)GAG>CAG		dermal papilla derived protein 13							245.0	246.0	245.0					7																	40234623		1941	4137	6078	SO:0001583	missense	79783						transferase activity	g.chr7:40234623G>C																												ENST00000335693.4:c.469G>C	7.37:g.40234623G>C	ENSP00000338475:p.Glu157Gln					C7orf10_uc003thm.1_Intron|C7orf10_uc003tho.1_Missense_Mutation_p.E150Q	p.E150Q	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			6	493	+			157					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.448G>C	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.54|10.54	1.379824|1.379824	0.24944|0.24944	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931	T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43|.	5.76|5.76	-0.0169|-0.0169	0.13970|0.13970	CoA-transferase family III domain (2);|.	0.723850|.	0.14526|.	N|.	0.314145|.	T|T	0.35799|0.35799	0.0944|0.0944	L|L	0.38733|0.38733	1.17|1.17	0.09310|0.09310	N|N	1|1	B;B|.	0.23058|.	0.035;0.079|.	B;B|.	0.26969|.	0.075;0.047|.	T|T	0.33033|0.33033	-0.9884|-0.9884	10|5	0.31617|.	T|.	0.26|.	-0.8588|-0.8588	10.3967|10.3967	0.44205|0.44205	0.5945:0.0:0.4055:0.0|0.5945:0.0:0.4055:0.0	.|.	157;157|.	Q4KMW8;Q9HAC7|.	.;CG010_HUMAN|.	Q|P	157;157;157;150|168	ENSP00000312054:E157Q;ENSP00000385222:E157Q;ENSP00000338475:E157Q;ENSP00000445521:E150Q|.	ENSP00000312054:E157Q|.	E|R	+|+	1|2	0|0	C7orf10|C7orf10	40201148|40201148	0.004000|0.004000	0.15560|0.15560	0.462000|0.462000	0.27118|0.27118	0.991000|0.991000	0.79684|0.79684	0.812000|0.812000	0.27211|0.27211	0.068000|0.068000	0.16574|0.16574	-0.294000|-0.294000	0.09567|0.09567	GAG|CGA		0.428	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			44	138	0	0	0	0	44	138				
SUGCT	79783	broad.mit.edu	37	7	40498771	40498771	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:40498771A>G	ENST00000335693.4	+	11	1004	c.981A>G	c.(979-981)aaA>aaG	p.K327K	C7orf10_ENST00000309930.5_Silent_p.K327K|C7orf10_ENST00000401647.2_Silent_p.K279K	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		327					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACAATAGAAAAGAGCTTATTA	0.279																																						uc003thn.1		NA																	0				ovary(2)	2						c.(958-960)AAA>AAG		dermal papilla derived protein 13							45.0	46.0	46.0					7																	40498771		1789	4059	5848	SO:0001819	synonymous_variant	79783						transferase activity	g.chr7:40498771A>G																												ENST00000335693.4:c.981A>G	7.37:g.40498771A>G						C7orf10_uc003thm.1_Silent_p.K290K|C7orf10_uc003tho.1_Silent_p.K272K	p.K320K	NM_024728	NP_079004	Q9HAC7	CG010_HUMAN			11	1005	+			327					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Silent	SNP	ENST00000335693.4	37	c.960A>G	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	A	9.624	1.134532	0.21123	.	.	ENSG00000175600	ENST00000416370	T	0.76839	-1.05	5.33	-0.0181	0.13965	.	0.345116	0.31554	N	0.007460	T	0.70343	0.3213	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58808	-0.7571	7	0.30854	T	0.27	-7.424	4.6779	0.12720	0.5929:0.1539:0.2533:0.0	.	.	.	.	R	322	ENSP00000393032:K322R	ENSP00000393032:K322R	K	+	2	0	C7orf10	40465296	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	0.630000	0.24553	-0.146000	0.11274	0.529000	0.55759	AAG		0.279	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			7	31	0	0	0	0	7	31				
GLI3	2737	broad.mit.edu	37	7	42005670	42005670	+	Missense_Mutation	SNP	C	C	A	rs202182779		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:42005670C>A	ENST00000395925.3	-	15	3085	c.3001G>T	c.(3001-3003)Ggc>Tgc	p.G1001C	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1001					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|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)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTCCTCACGCCGTGGCCCGGC	0.756									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1		NA																	0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3001-3003)GGC>TGC		GLI-Kruppel family member GLI3							4.0	6.0	5.0					7																	42005670		1884	3768	5652	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005670C>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3001G>T	7.37:g.42005670C>A	ENSP00000379258:p.Gly1001Cys					GLI3_uc011kbg.1_Missense_Mutation_p.G942C	p.G1001C	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3092	-			1001					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3001G>T	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569545	0.28003	.	.	ENSG00000106571	ENST00000395925	T	0.14391	2.51	4.98	0.136	0.14780	.	0.319972	0.38959	N	0.001504	T	0.13157	0.0319	L	0.60455	1.87	0.80722	D	1	B	0.26041	0.14	B	0.22601	0.04	T	0.06285	-1.0835	10	0.56958	D	0.05	.	9.589	0.39534	0.0:0.663:0.0:0.337	.	1001	P10071	GLI3_HUMAN	C	1001	ENSP00000379258:G1001C	ENSP00000379258:G1001C	G	-	1	0	GLI3	41972195	0.009000	0.17119	0.000000	0.03702	0.025000	0.11179	0.308000	0.19314	-0.317000	0.08677	0.563000	0.77884	GGC		0.756	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		8	10	1	0	0.000274275	0.000411185	8	10				
TNS3	64759	broad.mit.edu	37	7	47408665	47408665	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:47408665G>T	ENST00000398879.1	-	17	1944	c.1578C>A	c.(1576-1578)ggC>ggA	p.G526G	TNS3_ENST00000311160.9_Silent_p.G526G|TNS3_ENST00000355730.3_Silent_p.G286G			Q68CZ2	TENS3_HUMAN	tensin 3	526					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CAACGTTGCTGCCAAAACCGT	0.627																																						uc003tnv.2		NA																	0				ovary(4)	4						c.(1576-1578)GGC>GGA		tensin 3							49.0	53.0	52.0					7																	47408665		2046	4187	6233	SO:0001819	synonymous_variant	64759					focal adhesion	protein binding	g.chr7:47408665G>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1578C>A	7.37:g.47408665G>T						TNS3_uc003tnw.2_Silent_p.G526G	p.G526G	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			17	1945	-			526					B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Silent	SNP	ENST00000398879.1	37	c.1578C>A	CCDS5506.2																																																																																				0.627	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		21	30	1	0	1.26e-06	2.08e-06	21	30				
TNS3	64759	broad.mit.edu	37	7	47474985	47474985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:47474985C>T	ENST00000398879.1	-	8	585	c.219G>A	c.(217-219)tgG>tgA	p.W73*	TNS3_ENST00000442536.2_Nonsense_Mutation_p.W73*|TNS3_ENST00000311160.9_Nonsense_Mutation_p.W73*|TNS3_ENST00000355730.3_Nonsense_Mutation_p.W73*|TNS3_ENST00000458317.2_Nonsense_Mutation_p.W73*			Q68CZ2	TENS3_HUMAN	tensin 3	73	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGAGCTCTGGCCAGCCCACAT	0.517																																						uc003tnv.2		NA																	0				ovary(4)	4						c.(217-219)TGG>TGA		tensin 3							94.0	100.0	98.0					7																	47474985		2042	4198	6240	SO:0001587	stop_gained	64759					focal adhesion	protein binding	g.chr7:47474985C>T	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.219G>A	7.37:g.47474985C>T	ENSP00000381854:p.Trp73*					TNS3_uc003tnw.2_Nonsense_Mutation_p.W73*|TNS3_uc010kyo.1_Nonsense_Mutation_p.W73*	p.W73*	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			8	586	-			73			Phosphatase tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Nonsense_Mutation	SNP	ENST00000398879.1	37	c.219G>A	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	38	7.211911	0.98139	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317;ENST00000415929;ENST00000413551	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.0366	16.4177	0.83748	0.0:1.0:0.0:0.0	.	.	.	.	X	73;183;73;73;176;162;73;73;73;73	.	ENSP00000312143:W73X	W	-	3	0	TNS3	47441510	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.608000	0.82898	2.534000	0.85438	0.650000	0.86243	TGG		0.517	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1	NM_022748		25	81	0	0	0	0	25	81				
C7orf57	136288	broad.mit.edu	37	7	48080958	48080958	+	Missense_Mutation	SNP	G	G	T	rs200433005		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:48080958G>T	ENST00000348904.3	+	3	295	c.83G>T	c.(82-84)cGc>cTc	p.R28L	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000420324.1_Missense_Mutation_p.R73L|C7orf57_ENST00000430738.1_Missense_Mutation_p.R73L|C7orf57_ENST00000539619.1_Missense_Mutation_p.R28L	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	28										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CCAGTGAAGCGCTCTGAGAAG	0.582																																						uc003toh.3		NA																	0				ovary(1)	1						c.(82-84)CGC>CTC		hypothetical protein LOC136288							52.0	56.0	55.0					7																	48080958		1947	4143	6090	SO:0001583	missense	136288							g.chr7:48080958G>T	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.83G>T	7.37:g.48080958G>T	ENSP00000335500:p.Arg28Leu					C7orf57_uc003toi.3_5'UTR	p.R28L	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			3	295	+			28					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.83G>T	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.781684	0.49891	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.69	4.76	0.60689	.	0.146210	0.45361	D	0.000369	T	0.48960	0.1529	M	0.72118	2.19	0.25125	N	0.99062	P	0.51537	0.946	P	0.49683	0.619	T	0.50136	-0.8863	10	0.62326	D	0.03	-23.8121	8.5162	0.33248	0.1847:0.0:0.8153:0.0	.	28	Q8NEG2	CG057_HUMAN	L	73;73;28;28	ENSP00000394648:R73L;ENSP00000410944:R73L;ENSP00000335500:R28L;ENSP00000442474:R28L	ENSP00000335500:R28L	R	+	2	0	C7orf57	48047483	0.241000	0.23857	0.777000	0.31699	0.060000	0.15804	0.397000	0.20883	1.284000	0.44531	0.563000	0.77884	CGC		0.582	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		10	43	1	0	2.81e-09	4.9e-09	10	43				
ABCA13	154664	broad.mit.edu	37	7	48443395	48443395	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:48443395G>T	ENST00000435803.1	+	39	12013	c.11989G>T	c.(11989-11991)Gtg>Ttg	p.V3997L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3997	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTCGAGGACCGTGGTTCTGGA	0.572																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11989-11991)GTG>TTG		ATP binding cassette, sub-family A (ABC1),							86.0	88.0	87.0					7																	48443395		2012	4170	6182	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48443395G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11989G>T	7.37:g.48443395G>T	ENSP00000411096:p.Val3997Leu					ABCA13_uc010kys.1_Missense_Mutation_p.V1071L|ABCA13_uc003tos.1_Missense_Mutation_p.V823L|ABCA13_uc010kyt.1_RNA	p.V3997L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			39	12014	+			3997			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11989G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669881	0.88348	.	.	ENSG00000179869	ENST00000435803	D	0.89939	-2.59	6.17	5.29	0.74685	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.156920	0.29730	N	0.011349	D	0.87517	0.6197	N	0.13168	0.305	0.80722	D	1	D;D	0.64830	0.994;0.969	P;P	0.59487	0.858;0.757	D	0.88269	0.2928	10	0.59425	D	0.04	.	14.0999	0.65049	0.071:0.0:0.929:0.0	.	1699;3997	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	L	3997	ENSP00000411096:V3997L	ENSP00000411096:V3997L	V	+	1	0	ABCA13	48413941	1.000000	0.71417	0.965000	0.40720	0.626000	0.37791	5.456000	0.66665	2.941000	0.99782	0.655000	0.94253	GTG		0.572	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		9	25	1	0	1.77e-08	3.04e-08	9	25				
ABCA13	154664	broad.mit.edu	37	7	48619833	48619833	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:48619833C>A	ENST00000435803.1	+	56	14392	c.14368C>A	c.(14368-14370)Ctg>Atg	p.L4790M	ABCA13_ENST00000544596.1_Missense_Mutation_p.L520M	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4790	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGCCGTGGACCTGTCTTCTGC	0.522																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(14368-14370)CTG>ATG		ATP binding cassette, sub-family A (ABC1),							29.0	30.0	30.0					7																	48619833		1974	4167	6141	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48619833C>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14368C>A	7.37:g.48619833C>A	ENSP00000411096:p.Leu4790Met					ABCA13_uc010kys.1_Missense_Mutation_p.L1865M|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.L520M	p.L4790M	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			56	14393	+			4790			ABC transporter 2.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14368C>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941354	0.53079	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.44083	0.93;0.93;0.93	5.0	4.05	0.47172	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.963948	0.08444	N	0.944951	T	0.55130	0.1901	L	0.42008	1.315	0.09310	N	1	P;D;D	0.71674	0.942;0.997;0.998	P;P;D	0.65987	0.725;0.898;0.94	T	0.43475	-0.9389	10	0.87932	D	0	.	10.5171	0.44896	0.0:0.8034:0.1965:0.0	.	520;2492;4790	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	M	4790;563;520	ENSP00000411096:L4790M;ENSP00000391042:L563M;ENSP00000442634:L520M	ENSP00000391042:L563M	L	+	1	2	ABCA13	48590379	0.328000	0.24687	0.013000	0.15412	0.184000	0.23303	1.835000	0.39181	2.318000	0.78349	0.637000	0.83480	CTG		0.522	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		4	8	1	0	2.77e-08	4.76e-08	4	8				
ZPBP	11055	broad.mit.edu	37	7	50070687	50070687	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:50070687C>A	ENST00000046087.2	-	5	776		c.e5+1		ZPBP_ENST00000419417.1_Splice_Site|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein						acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TATAGACTTACCTGAAAATGC	0.299																																						uc003tou.2		NA																	0					0						c.e5+1		zona pellucida binding protein isoform 1							54.0	58.0	57.0					7																	50070687		2203	4300	6503	SO:0001630	splice_region_variant	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50070687C>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.706+1G>T	7.37:g.50070687C>A						ZPBP_uc011kci.1_Splice_Site_p.V162_splice|ZPBP_uc010kyw.2_Splice_Site_p.V235_splice	p.V236_splice	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			5	776	-	Glioma(55;0.08)|all_neural(89;0.245)							A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Splice_Site	SNP	ENST00000046087.2	37	c.706_splice	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776491	0.70107	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5367	0.84374	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZPBP	50041233	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.434000	0.59935	2.505000	0.84491	0.655000	0.94253	.		0.299	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009	Intron	4	52	1	0	0.000602214	0.000897232	4	52				
COBL	23242	broad.mit.edu	37	7	51261227	51261227	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:51261227T>A	ENST00000265136.7	-	3	470	c.305A>T	c.(304-306)cAc>cTc	p.H102L	COBL_ENST00000441453.1_Missense_Mutation_p.H102L|COBL_ENST00000395540.2_Missense_Mutation_p.H102L|COBL_ENST00000395542.2_Missense_Mutation_p.H102L	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	102					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)					AAGGGCATGGTGGGATGGATT	0.413																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(304-306)CAC>CTC		cordon-bleu homolog							92.0	82.0	85.0					7																	51261227		2203	4300	6503	SO:0001583	missense	23242							g.chr7:51261227T>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.305A>T	7.37:g.51261227T>A	ENSP00000265136:p.His102Leu					COBL_uc003tps.2_Missense_Mutation_p.H102L|COBL_uc011kcl.1_Missense_Mutation_p.H102L|COBL_uc010kzc.2_Missense_Mutation_p.H102L|COBL_uc003tpt.2_Missense_Mutation_p.H102L|COBL_uc003tpp.3_5'Flank|COBL_uc003tpq.3_Missense_Mutation_p.H18L	p.H102L	NM_015198	NP_056013	O75128	COBL_HUMAN			3	490	-	Glioma(55;0.08)		102					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.305A>T	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.278825	0.40294	.	.	ENSG00000106078	ENST00000265136;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	T;T	0.11495	2.83;2.77	5.58	4.42	0.53409	Cordon-bleu domain (1);	0.000000	0.42053	D	0.000778	T	0.25005	0.0607	L	0.54323	1.7	0.32057	N	0.596208	D;B;D;B;D	0.62365	0.974;0.015;0.974;0.274;0.991	P;B;P;B;D	0.64042	0.844;0.012;0.844;0.115;0.921	T	0.19679	-1.0298	10	0.72032	D	0.01	.	12.0894	0.53717	0.0:0.0:0.144:0.856	.	102;102;102;102;102	O75128-3;O75128-5;O75128-7;O75128;O75128-2	.;.;.;COBL_HUMAN;.	L	102;102;102;102;86	ENSP00000265136:H102L;ENSP00000378912:H102L	ENSP00000265136:H102L	H	-	2	0	COBL	51228721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.436000	0.34980	0.926000	0.37118	0.533000	0.62120	CAC		0.413	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		10	45	0	0	0	0	10	45				
ZNF479	90827	broad.mit.edu	37	7	57188157	57188157	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:57188157T>G	ENST00000331162.4	-	5	1235	c.965A>C	c.(964-966)gAg>gCg	p.E322A		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	322					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GCAGGGTTTCTCTCCAGTATG	0.443																																						uc010kzo.2		NA																	0				ovary(3)|skin(1)	4						c.(964-966)GAG>GCG		zinc finger protein 479							10.0	10.0	10.0					7																	57188157		1832	3969	5801	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188157T>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.965A>C	7.37:g.57188157T>G	ENSP00000333776:p.Glu322Ala						p.E322A	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1236	-			322						Missense_Mutation	SNP	ENST00000331162.4	37	c.965A>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	t	11.39	1.625641	0.28889	.	.	ENSG00000185177	ENST00000331162	T	0.27557	1.66	0.994	0.994	0.19832	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40743	0.1129	L	0.47716	1.5	0.22066	N	0.999387	D	0.63880	0.993	D	0.80764	0.994	T	0.16867	-1.0388	9	0.62326	D	0.03	.	3.0543	0.06179	0.3908:0.0:0.0:0.6092	.	322	Q96JC4	ZN479_HUMAN	A	322	ENSP00000333776:E322A	ENSP00000333776:E322A	E	-	2	0	ZNF479	57192099	0.992000	0.36948	0.015000	0.15790	0.015000	0.08874	3.774000	0.55341	0.372000	0.24591	0.363000	0.22086	GAG		0.443	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		15	37	0	0	0	0	15	37				
ZNF716	441234	broad.mit.edu	37	7	57529257	57529257	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:57529257T>C	ENST00000420713.1	+	4	1202	c.1090T>C	c.(1090-1092)Tcc>Ccc	p.S364P		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	364					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)|kidney(1)|lung(20)|ovary(2)	24						CTTTACCTTCTCCTCAACTCT	0.403																																						uc011kdi.1		NA																	0				ovary(2)	2						c.(1090-1092)TCC>CCC		zinc finger protein 716							61.0	62.0	62.0					7																	57529257		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529257T>C	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.1090T>C	7.37:g.57529257T>C	ENSP00000394248:p.Ser364Pro						p.S364P	NM_001159279	NP_001152751					4	1202	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.1090T>C	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	T	8.160	0.789314	0.16258	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.07908	3.15	0.185	0.185	0.15096	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09774	0.0240	L	0.38733	1.17	0.09310	N	1	P	0.45348	0.856	P	0.48840	0.592	T	0.27839	-1.0062	8	0.46703	T	0.11	.	.	.	.	.	352	A6NP11	ZN716_HUMAN	P	364;352	ENSP00000394248:S364P	ENSP00000387687:S352P	S	+	1	0	ZNF716	57533199	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.743000	0.04845	0.251000	0.21505	0.248000	0.18094	TCC		0.403	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	22	0	0	0	0	8	22				
ZNF107	51427	broad.mit.edu	37	7	64166767	64166767	+	Missense_Mutation	SNP	G	G	T	rs370684250		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:64166767G>T	ENST00000395391.1	+	4	1460	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ZNF107_ENST00000423627.1_Missense_Mutation_p.V29L|ZNF107_ENST00000344930.3_Missense_Mutation_p.V29L			Q9UII5	ZN107_HUMAN	zinc finger protein 107	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTCCAGAAAGTGACACTGAG	0.358																																						uc003ttd.2		NA																	0				ovary(1)	1						c.(85-87)GTG>TTG		zinc finger protein 107							66.0	65.0	65.0					7																	64166767		2203	4300	6503	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64166767G>T	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.85G>T	7.37:g.64166767G>T	ENSP00000378789:p.Val29Leu					ZNF107_uc003tte.2_Missense_Mutation_p.V29L	p.V29L	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	871	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	29						Missense_Mutation	SNP	ENST00000395391.1	37	c.85G>T	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	10.98	1.504838	0.26949	.	.	ENSG00000196247	ENST00000541526;ENST00000360117;ENST00000344930;ENST00000423627;ENST00000395391	T;T;T;T	0.08896	4.59;3.04;3.04;3.04	1.2	0.147	0.14838	.	.	.	.	.	T	0.07638	0.0192	M	0.66506	2.035	0.09310	N	1	B	0.32245	0.361	B	0.28784	0.094	T	0.37314	-0.9711	9	0.13470	T	0.59	.	5.046	0.14485	0.2598:0.0:0.7402:0.0	.	29	Q9UII5	ZN107_HUMAN	L	29	ENSP00000353234:V29L;ENSP00000343443:V29L;ENSP00000400037:V29L;ENSP00000378789:V29L	ENSP00000343443:V29L	V	+	1	0	ZNF107	63804202	0.000000	0.05858	0.016000	0.15963	0.303000	0.27691	-2.176000	0.01262	0.570000	0.29347	0.305000	0.20034	GTG		0.358	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		14	17	1	0	1.58e-08	2.73e-08	14	17				
ZNF92	168374	broad.mit.edu	37	7	64863788	64863788	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:64863788A>G	ENST00000328747.7	+	4	960	c.761A>G	c.(760-762)gAg>gGg	p.E254G	ZNF92_ENST00000450302.2_Missense_Mutation_p.E185G|ZNF92_ENST00000431504.1_Missense_Mutation_p.E178G|ZNF92_ENST00000357512.2_Missense_Mutation_p.E222G	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	254					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				CATACTGGAGAGAAACCCTAC	0.348																																						uc003ttz.2		NA																	0					0						c.(760-762)GAG>GGG		zinc finger protein 92 isoform 2							37.0	41.0	40.0					7																	64863788		2150	4256	6406	SO:0001583	missense	168374					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:64863788A>G	M61872	CCDS34646.1, CCDS47596.1, CCDS75608.1, CCDS75609.1	7q11.21	2013-01-08	2006-05-12		ENSG00000146757	ENSG00000146757		"""Zinc fingers, C2H2-type"", ""-"""	13168	protein-coding gene	gene with protein product		603974	"""zinc finger protein 92 (HTF12)"""			8467795	Standard	NM_001287533		Approved	HPF12, TF12	uc003ttz.3	Q03936	OTTHUMG00000156557	ENST00000328747.7:c.761A>G	7.37:g.64863788A>G	ENSP00000332595:p.Glu254Gly					ZNF92_uc003tua.2_Missense_Mutation_p.E185G|ZNF92_uc010kzu.2_Missense_Mutation_p.E222G|ZNF92_uc003tub.2_Missense_Mutation_p.E178G	p.E254G	NM_152626	NP_689839	Q03936	ZNF92_HUMAN			4	904	+		Lung NSC(55;0.159)	254					A6NNF9|Q8N492|Q8NB35	Missense_Mutation	SNP	ENST00000328747.7	37	c.761A>G	CCDS34646.1	.	.	.	.	.	.	.	.	.	.	A	17.35	3.368182	0.61513	.	.	ENSG00000146757	ENST00000328747;ENST00000431504;ENST00000357512;ENST00000450302	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	0.641	-1.06	0.10002	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45776	0.1359	M	0.72118	2.19	0.30137	N	0.804319	B;D	0.69078	0.435;0.997	B;D	0.71184	0.198;0.972	T	0.44907	-0.9297	9	0.72032	D	0.01	.	4.5153	0.11932	0.6701:0.3299:0.0:0.0	.	222;254	Q03936-3;Q03936	.;ZNF92_HUMAN	G	254;178;222;185	ENSP00000332595:E254G;ENSP00000400495:E178G;ENSP00000350113:E222G;ENSP00000396126:E185G	ENSP00000332595:E254G	E	+	2	0	ZNF92	64501223	0.997000	0.39634	0.000000	0.03702	0.655000	0.38815	2.175000	0.42491	-0.392000	0.07751	0.383000	0.25322	GAG		0.348	ZNF92-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344589.2	NM_152626		27	36	0	0	0	0	27	36				
WBSCR17	64409	broad.mit.edu	37	7	71036356	71036356	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:71036356A>G	ENST00000333538.5	+	6	1683	c.1049A>G	c.(1048-1050)tAc>tGc	p.Y350C	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	350	Catalytic subdomain B.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATGGATGTATACGGAGGAGAA	0.512																																						uc003tvy.2		NA																	0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1048-1050)TAC>TGC		UDP-GalNAc:polypeptide							192.0	185.0	187.0					7																	71036356		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71036356A>G	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1049A>G	7.37:g.71036356A>G	ENSP00000329654:p.Tyr350Cys					WBSCR17_uc003tvz.2_Missense_Mutation_p.Y49C	p.Y350C	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			6	1049	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	350			Catalytic subdomain B.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1049A>G	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921515	0.73213	.	.	ENSG00000185274	ENST00000333538	T	0.63417	-0.04	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.80904	0.4713	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84202	0.0451	10	0.66056	D	0.02	.	12.2752	0.54730	1.0:0.0:0.0:0.0	.	350	Q6IS24	GLTL3_HUMAN	C	350	ENSP00000329654:Y350C	ENSP00000329654:Y350C	Y	+	2	0	WBSCR17	70674292	1.000000	0.71417	0.971000	0.41717	0.916000	0.54674	7.999000	0.88496	2.124000	0.65301	0.519000	0.50382	TAC		0.512	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		29	76	0	0	0	0	29	76				
WBSCR28	135886	broad.mit.edu	37	7	73279506	73279506	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:73279506G>T	ENST00000320531.2	+	2	292	c.256G>T	c.(256-258)Gtc>Ttc	p.V86F		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	86						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				TCTGATACAGGTCCCCGTATG	0.692																																						uc003tzk.2		NA																	0				breast(1)	1						c.(256-258)GTC>TTC		hypothetical protein LOC135886							40.0	46.0	44.0					7																	73279506		1941	4126	6067	SO:0001583	missense	135886					integral to membrane		g.chr7:73279506G>T	BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.256G>T	7.37:g.73279506G>T	ENSP00000316775:p.Val86Phe					RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR	p.V86F	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN			2	292	+		Lung NSC(55;0.159)	86			Helical; (Potential).		Q6UE04|Q8NHP4	Missense_Mutation	SNP	ENST00000320531.2	37	c.256G>T	CCDS43597.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553673	0.45487	.	.	ENSG00000175877	ENST00000320531	T	0.28069	1.63	4.63	1.7	0.24286	.	0.547267	0.15355	N	0.266744	T	0.29652	0.0740	L	0.36672	1.1	0.09310	N	1	P	0.48016	0.904	P	0.51355	0.667	T	0.11743	-1.0575	10	0.87932	D	0	-16.4701	4.1599	0.10278	0.2221:0.1905:0.5874:0.0	.	86	Q6UE05	WBS28_HUMAN	F	86	ENSP00000316775:V86F	ENSP00000316775:V86F	V	+	1	0	WBSCR28	72917442	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.914000	0.28624	0.165000	0.19558	0.650000	0.86243	GTC		0.692	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348130.1	NM_182504		34	75	1	0	4.03e-09	7.03e-09	34	75				
GTF2IRD1	9569	broad.mit.edu	37	7	73969543	73969543	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:73969543G>T	ENST00000265755.3	+	18	2349	c.1956G>T	c.(1954-1956)atG>atT	p.M652I	GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.M652I|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.M684I|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.M652I	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	652			M -> V (in dbSNP:rs2301895). {ECO:0000269|PubMed:10575229, ECO:0000269|PubMed:10642537, ECO:0000269|PubMed:15489334}.		multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCCCATCATGGATAGTCAAG	0.637																																						uc003uaq.2		NA																	0				ovary(4)	4						c.(1954-1956)ATG>ATT		GTF2I repeat domain containing 1 isoform 1							71.0	76.0	74.0					7																	73969543		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73969543G>T	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.1956G>T	7.37:g.73969543G>T	ENSP00000265755:p.Met652Ile					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.M684I|GTF2IRD1_uc003uap.2_Silent_p.V652V|GTF2IRD1_uc003uar.1_Missense_Mutation_p.M652I	p.M652I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			18	2349	+			652					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.1956G>T	CCDS5571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.870|1.870	-0.460415|-0.460415	0.04508|0.04508	.|.	.|.	ENSG00000006704|ENSG00000006704	ENST00000470715|ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	.|T;T;T;T	.|0.28069	.|1.63;1.63;1.63;1.63	3.58|3.58	0.516|0.516	0.17019|0.17019	.|.	.|1.276180	.|0.05184	.|N	.|0.501930	.|T	.|0.14098	.|0.0341	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.10296	.|0.0;0.003;0.0;0.0	.|B;B;B;B	.|0.08055	.|0.0;0.003;0.0;0.001	.|T	.|0.22382	.|-1.0218	.|10	.|0.34782	.|T	.|0.22	-0.1391|-0.1391	4.0462|4.0462	0.09774|0.09774	0.2943:0.0:0.5417:0.164|0.2943:0.0:0.5417:0.164	.|.	.|684;652;652;652	.|Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.|.;.;GT2D1_HUMAN;.	X|I	30|652;684;652;652	.|ENSP00000265755:M652I;ENSP00000397566:M684I;ENSP00000408477:M652I;ENSP00000418383:M652I	.|ENSP00000265755:M652I	G|M	+|+	1|3	0|0	GTF2IRD1|GTF2IRD1	73607479|73607479	0.000000|0.000000	0.05858|0.05858	0.037000|0.037000	0.18230|0.18230	0.224000|0.224000	0.24922|0.24922	-1.121000|-1.121000	0.03270|0.03270	-0.001000|-0.001000	0.14495|0.14495	0.650000|0.650000	0.86243|0.86243	GGA|ATG		0.637	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2	NM_016328		23	57	1	0	2.89e-11	5.25e-11	23	57				
PCLO	27445	broad.mit.edu	37	7	82451863	82451863	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:82451863C>A	ENST00000333891.9	-	20	15076	c.14739G>T	c.(14737-14739)ggG>ggT	p.G4913G	PCLO_ENST00000423517.2_Silent_p.G4913G|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTATGGCAGCCCCTGCATCTT	0.498																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(14737-14739)GGG>GGT		piccolo isoform 1							148.0	163.0	158.0					7																	82451863		2068	4213	6281	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82451863C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.14739G>T	7.37:g.82451863C>A						PCLO_uc003uhv.2_Silent_p.G4913G|PCLO_uc003uht.1_Silent_p.G355G|PCLO_uc003uhu.1_Silent_p.G334G	p.G4913G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			20	15028	-			4775						Silent	SNP	ENST00000333891.9	37	c.14739G>T	CCDS47630.1																																																																																				0.498	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		71	176	1	0	3.31e-33	7e-33	71	176				
ABCB1	5243	broad.mit.edu	37	7	87160614	87160614	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:87160614C>G	ENST00000265724.3	-	22	3098	c.2681G>C	c.(2680-2682)gGg>gCg	p.G894A	ABCB1_ENST00000543898.1_Missense_Mutation_p.G830A|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	894	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|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)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	ACTCACCTTCCCAGAACCTTC	0.343																																						uc003uiz.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(2680-2682)GGG>GCG		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						111.0	113.0	113.0					7																	87160614		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87160614C>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2681G>C	7.37:g.87160614C>G	ENSP00000265724:p.Gly894Ala					ABCB1_uc011khc.1_Missense_Mutation_p.G830A	p.G894A	NM_000927	NP_000918	P08183	MDR1_HUMAN			22	3099	-	Esophageal squamous(14;0.00164)		894			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.2681G>C	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806021	0.70682	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.90385	-2.66;-2.66	5.67	5.67	0.87782	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93677	0.7980	L	0.42632	1.34	0.80722	D	1	P;D	0.89917	0.5;1.0	B;D	0.97110	0.405;1.0	D	0.92608	0.6097	10	0.42905	T	0.14	-16.7204	20.1169	0.97940	0.0:1.0:0.0:0.0	.	830;894	B5AK60;P08183	.;MDR1_HUMAN	A	675;894;830	ENSP00000265724:G894A;ENSP00000444095:G830A	ENSP00000265724:G894A	G	-	2	0	ABCB1	86998550	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	6.919000	0.75793	2.835000	0.97688	0.591000	0.81541	GGG		0.343	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		23	36	0	0	0	0	23	36				
PEX1	5189	broad.mit.edu	37	7	92134134	92134134	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:92134134C>A	ENST00000248633.4	-	12	2078	c.1983G>T	c.(1981-1983)ctG>ctT	p.L661L	PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Silent_p.L78L|PEX1_ENST00000438045.1_Silent_p.L339L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	661			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		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)			CAAGGTCATCCAGCAGGACAA	0.502																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1981-1983)CTG>CTT		peroxin1							180.0	166.0	171.0					7																	92134134		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92134134C>A	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.1983G>T	7.37:g.92134134C>A						PEX1_uc011khr.1_Silent_p.L453L|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Silent_p.L339L|PEX1_uc011kht.1_RNA	p.L661L	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)		12	2079	-	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)	661		Missing (in NALD).			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.1983G>T	CCDS5627.1																																																																																				0.502	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		30	84	1	0	3.58e-08	6.12e-08	30	84				
PON1	5444	broad.mit.edu	37	7	94944746	94944746	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:94944746A>G	ENST00000222381.3	-	4	489	c.258T>C	c.(256-258)ctT>ctC	p.L86L	PON1_ENST00000542556.1_Silent_p.L86L	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	86					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GGTCCATCAGAAGTATTTTTC	0.388																																					GBM(119;715 1622 17358 22490 33240)	uc003uns.2		NA																	0				pancreas(1)	1						c.(256-258)CTT>CTC		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						105.0	101.0	102.0					7																	94944746		2203	4300	6503	SO:0001819	synonymous_variant	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94944746A>G	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.258T>C	7.37:g.94944746A>G						PON1_uc011kih.1_Silent_p.L86L	p.L86L	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		4	355	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		86					B2RA40|Q16052|Q6B0J6|Q9UCB1	Silent	SNP	ENST00000222381.3	37	c.258T>C	CCDS5638.1																																																																																				0.388	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		20	55	0	0	0	0	20	55				
ZNF789	285989	broad.mit.edu	37	7	99084446	99084446	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:99084446G>C	ENST00000331410.5	+	5	883	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	205					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)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGAATGCAGTGAATGTGGAAA	0.418																																						uc003uqq.1		NA																	0					0						c.(613-615)GAA>CAA		zinc finger protein 789 isoform 1							134.0	133.0	133.0					7																	99084446		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084446G>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.613G>C	7.37:g.99084446G>C	ENSP00000331927:p.Glu205Gln					ZNF789_uc010lfw.1_Missense_Mutation_p.E110Q|ZNF789_uc003uqr.1_Missense_Mutation_p.E147Q	p.E205Q	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN			5	832	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		205			C2H2-type 1.		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.613G>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.091720	0.55968	.	.	ENSG00000198556	ENST00000331410	T	0.52057	0.68	3.21	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36991	0.0987	L	0.41573	1.285	0.36524	D	0.870335	B	0.17268	0.021	B	0.12837	0.008	T	0.35101	-0.9802	9	0.42905	T	0.14	.	10.1789	0.42955	0.0:0.2053:0.7946:0.0	.	205	Q5FWF6	ZN789_HUMAN	Q	205	ENSP00000331927:E205Q	ENSP00000331927:E205Q	E	+	1	0	ZNF789	98922382	0.000000	0.05858	0.024000	0.17045	0.932000	0.56968	0.083000	0.14871	0.683000	0.31428	-0.182000	0.12963	GAA		0.418	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		34	55	0	0	0	0	34	55				
ZNF394	84124	broad.mit.edu	37	7	99097390	99097390	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:99097390C>T	ENST00000337673.6	-	1	530	c.327G>A	c.(325-327)ctG>ctA	p.L109L	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Silent_p.L109L|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	109	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GGAACTGCTCCAGCACCAGCA	0.672																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NA																	0					0						c.(325-327)CTG>CTA		zinc finger protein 394							65.0	69.0	67.0					7																	99097390		2203	4300	6503	SO:0001819	synonymous_variant	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097390C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.327G>A	7.37:g.99097390C>T						ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Silent_p.L109L	p.L109L	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			1	488	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		109			SCAN box.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Silent	SNP	ENST00000337673.6	37	c.327G>A	CCDS5666.1																																																																																				0.672	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		5	134	0	0	0	0	5	134				
ZKSCAN5	23660	broad.mit.edu	37	7	99124011	99124011	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:99124011A>C	ENST00000394170.2	+	6	1599	c.1348A>C	c.(1348-1350)Aaa>Caa	p.K450Q	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.K450Q|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.K450Q	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	450					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CGAACACCTAAAACGCCACTT	0.502																																						uc003uqv.2		NA																	0				ovary(1)	1						c.(1348-1350)AAA>CAA		zinc finger with KRAB and SCAN domains 5							179.0	181.0	180.0					7																	99124011		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99124011A>C	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1348A>C	7.37:g.99124011A>C	ENSP00000377725:p.Lys450Gln					ZKSCAN5_uc010lfx.2_Missense_Mutation_p.K450Q|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.K450Q|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.K377Q|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.K186Q	p.K450Q	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			6	1472	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		450			C2H2-type 4.		A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.1348A>C	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.337317	0.81911	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.10860	2.83;2.83;2.83	4.88	4.88	0.63580	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.56097	D	0.000025	T	0.22898	0.0553	L	0.48986	1.54	0.34007	D	0.650984	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.971	T	0.24297	-1.0164	10	0.72032	D	0.01	.	7.3788	0.26843	0.9043:0.0:0.0957:0.0	.	450;450	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	Q	450	ENSP00000322872:K450Q;ENSP00000392104:K450Q;ENSP00000377725:K450Q	ENSP00000322872:K450Q	K	+	1	0	ZKSCAN5	98961947	0.973000	0.33851	1.000000	0.80357	0.970000	0.65996	4.879000	0.63100	2.186000	0.69663	0.533000	0.62120	AAA		0.502	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1	NM_014569		79	190	0	0	0	0	79	190				
ZNF655	79027	broad.mit.edu	37	7	99170651	99170651	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:99170651G>C	ENST00000394163.2	+	3	1103	c.920G>C	c.(919-921)aGt>aCt	p.S307T	ZNF655_ENST00000493277.1_Missense_Mutation_p.S342T|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000424881.1_Missense_Mutation_p.S342T|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.S307T	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	307					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAATGTAGCAGTTGTGAAAGA	0.413																																						uc003urh.2		NA																	0				ovary(1)	1						c.(919-921)AGT>ACT		zinc finger protein 655 isoform a							80.0	75.0	77.0					7																	99170651		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170651G>C	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.920G>C	7.37:g.99170651G>C	ENSP00000377718:p.Ser307Thr					ZNF655_uc010lga.2_Missense_Mutation_p.S342T|ZNF655_uc010lgc.2_Missense_Mutation_p.S342T|ZNF655_uc003urj.2_Missense_Mutation_p.S307T|ZNF655_uc003urk.2_Missense_Mutation_p.S144T|ZNF655_uc010lgd.2_Missense_Mutation_p.S144T	p.S307T	NM_138494	NP_612503	Q8N720	ZN655_HUMAN			3	1313	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		307			C2H2-type 3.		A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.920G>C	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	7.361	0.624757	0.14193	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000424881;ENST00000394163	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.17	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.785308	0.11152	N	0.593974	T	0.21103	0.0508	N	0.03983	-0.305	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18429	-1.0337	10	0.66056	D	0.02	-0.0066	7.3524	0.26700	0.3411:0.1338:0.5251:0.0	.	342;307	Q8N720-3;Q8N720	.;ZN655_HUMAN	T	307;342;342;307	ENSP00000252713:S307T;ENSP00000419135:S342T;ENSP00000393876:S342T;ENSP00000377718:S307T	ENSP00000252713:S307T	S	+	2	0	ZNF655	99008587	0.000000	0.05858	0.035000	0.18076	0.971000	0.66376	-0.262000	0.08682	-0.324000	0.08589	-0.312000	0.09012	AGT		0.413	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		20	52	0	0	0	0	20	52				
TFR2	7036	broad.mit.edu	37	7	100225246	100225246	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:100225246A>T	ENST00000462107.1	-	16	2008	c.1721T>A	c.(1720-1722)tTc>tAc	p.F574Y	TFR2_ENST00000544242.1_Missense_Mutation_p.F115Y|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.F574Y			Q9UP52	TFR2_HUMAN	transferrin receptor 2	574					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	AAAGGCCGTGAAGGAATAGGC	0.632																																						uc003uvv.1		NA																	0				ovary(1)|pancreas(1)	2						c.(1720-1722)TTC>TAC		transferrin receptor 2							62.0	63.0	62.0					7																	100225246		2203	4300	6503	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100225246A>T	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1721T>A	7.37:g.100225246A>T	ENSP00000420525:p.Phe574Tyr					TFR2_uc010lhc.1_Missense_Mutation_p.F115Y|TFR2_uc003uvu.1_Missense_Mutation_p.F403Y	p.F574Y	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN			15	1762	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		574			Extracellular (Potential).		A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.1721T>A	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.618277	0.87359	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.66280	-0.2;-0.2;-0.2	4.9	4.9	0.64082	Peptidase M28 (1);	0.110083	0.64402	D	0.000008	T	0.80507	0.4636	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83404	0.0024	10	0.59425	D	0.04	-30.9249	12.5712	0.56339	1.0:0.0:0.0:0.0	.	574	Q9UP52	TFR2_HUMAN	Y	574;574;115	ENSP00000223051:F574Y;ENSP00000420525:F574Y;ENSP00000443656:F115Y	ENSP00000223051:F574Y	F	-	2	0	TFR2	100063182	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.507000	0.73717	2.077000	0.62373	0.374000	0.22700	TTC		0.632	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		9	39	0	0	0	0	9	39				
MUC17	140453	broad.mit.edu	37	7	100676773	100676773	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:100676773T>C	ENST00000306151.4	+	3	2140	c.2076T>C	c.(2074-2076)agT>agC	p.S692S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	692	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CATTAACAAGTATGCCTGTCA	0.493																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2074-2076)AGT>AGC		mucin 17 precursor							340.0	344.0	342.0					7																	100676773		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676773T>C	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2076T>C	7.37:g.100676773T>C						MUC17_uc010lho.1_RNA	p.S692S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2129	+	Lung NSC(181;0.136)|all_lung(186;0.182)		692			Extracellular (Potential).|9.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2076T>C	CCDS34711.1																																																																																				0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		213	468	0	0	0	0	213	468				
RELN	5649	broad.mit.edu	37	7	103292197	103292197	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:103292197C>G	ENST00000428762.1	-	15	1962	c.1803G>C	c.(1801-1803)tgG>tgC	p.W601C	RELN_ENST00000424685.2_Missense_Mutation_p.W601C|RELN_ENST00000343529.5_Missense_Mutation_p.W601C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	601					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGGAGGGACCAGGAGCGCC	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1801-1803)TGG>TGC		reelin isoform a							75.0	60.0	65.0					7																	103292197		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103292197C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1803G>C	7.37:g.103292197C>G	ENSP00000392423:p.Trp601Cys					RELN_uc010liz.2_Missense_Mutation_p.W601C	p.W601C	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	15	1963	-			601			BNR 1.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1803G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495447	0.85069	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.36699	1.25;1.25;1.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.65668	0.2713	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.99	T	0.68127	-0.5491	10	0.87932	D	0	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	601;601	P78509-2;P78509	.;RELN_HUMAN	C	601	ENSP00000392423:W601C;ENSP00000345694:W601C;ENSP00000388446:W601C	ENSP00000345694:W601C	W	-	3	0	RELN	103079433	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	TGG		0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		14	32	0	0	0	0	14	32				
RINT1	60561	broad.mit.edu	37	7	105204333	105204334	+	Missense_Mutation	DNP	CG	CG	TA			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:105204333_105204334CG>TA	ENST00000257700.2	+	12	2056_2057	c.1825_1826CG>TA	c.(1825-1827)CGt>TAt	p.R609Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATGTTGACCCGTCAAGTAGAC	0.386																																						uc003vda.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1825-1827)CGT>TAT		RAD50 interactor 1																																				SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105204333_105204334CG>TA	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	Exception_encountered	7.37:g.105204333_105204334delinsTA	ENSP00000257700:p.Arg609Tyr					RINT1_uc010ljj.1_Missense_Mutation_p.R184Y	p.R609Y	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			12	2056_2057	+			609			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	DNP	ENST00000257700.2	37	c.1825_1826CG>TA	CCDS34726.1																																																																																				0.386	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		12	43	0	0	0	0	12	43				
LAMB4	22798	broad.mit.edu	37	7	107746424	107746424	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:107746424A>G	ENST00000388781.3	-	8	791	c.708T>C	c.(706-708)ctT>ctC	p.L236L	LAMB4_ENST00000205386.4_Silent_p.L236L|LAMB4_ENST00000388780.3_Silent_p.L236L|LAMB4_ENST00000418464.1_Silent_p.L236L|LAMB4_ENST00000414450.2_Silent_p.L236L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	236	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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						AAGCATCCCCAAGGGTGTGGA	0.418																																						uc010ljo.1		NA																	0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(706-708)CTT>CTC		laminin, beta 4 precursor							106.0	96.0	100.0					7																	107746424		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107746424A>G	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.708T>C	7.37:g.107746424A>G						LAMB4_uc003vey.2_Silent_p.L236L	p.L236L	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			8	792	-			236			Laminin N-terminal.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.708T>C	CCDS34732.1																																																																																				0.418	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		16	42	0	0	0	0	16	42				
LRRN3	54674	broad.mit.edu	37	7	110762957	110762957	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:110762957C>A	ENST00000422987.3	+	2	960	c.129C>A	c.(127-129)ccC>ccA	p.P43P	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Silent_p.P43P|LRRN3_ENST00000308478.5_Silent_p.P43P|IMMP2L_ENST00000415362.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	43	LRRNT.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GGTTTACACCCAGATCCATTT	0.413																																						uc003vft.3		NA																	0				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(127-129)CCC>CCA		leucine rich repeat neuronal 3 precursor							154.0	140.0	145.0					7																	110762957		2203	4300	6503	SO:0001819	synonymous_variant	54674					integral to membrane		g.chr7:110762957C>A	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.129C>A	7.37:g.110762957C>A						IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.P43P|LRRN3_uc003vfs.3_Silent_p.P43P	p.P43P	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1175	+			43			Extracellular (Potential).|LRRNT.		O43377|Q6I9V8|Q8IYQ6	Silent	SNP	ENST00000422987.3	37	c.129C>A	CCDS5754.1																																																																																				0.413	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		27	80	1	0	1.26e-06	2.08e-06	27	80				
DOCK4	9732	broad.mit.edu	37	7	111540519	111540519	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:111540519C>A	ENST00000437633.1	-	15	1647	c.1391G>T	c.(1390-1392)aGt>aTt	p.S464I	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Missense_Mutation_p.S464I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	464	DHR-1.				cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCACCTGGGACTGTTGTTATG	0.488																																						uc003vfx.2		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(1390-1392)AGT>ATT		dedicator of cytokinesis 4							88.0	87.0	87.0					7																	111540519		1938	4132	6070	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111540519C>A		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.1391G>T	7.37:g.111540519C>A	ENSP00000404179:p.Ser464Ile					DOCK4_uc003vfy.2_Missense_Mutation_p.S464I|DOCK4_uc003vga.1_Missense_Mutation_p.S69I	p.S464I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			15	1660	-		Acute lymphoblastic leukemia(1;0.0441)	464			DHR-1.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.1391G>T	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.463031|5.463031	0.96257|0.96257	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250|ENST00000445943	T;T|.	0.14266|.	2.52;2.52|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.035300|.	0.85682|.	D|.	0.000000|.	D|D	0.85414|0.85414	0.5691|0.5691	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	P;P;P|.	0.49253|.	0.921;0.921;0.762|.	P;D;P|.	0.63192|.	0.892;0.912;0.832|.	D|D	0.85953|0.85953	0.1465|0.1465	10|5	0.87932|.	D|.	0|.	.|.	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	464;464;464|.	Q149N2;Q149N5;Q8N1I0|.	.;.;DOCK4_HUMAN|.	I|F	452;464;464;452;463|452	ENSP00000410746:S464I;ENSP00000404179:S464I|.	ENSP00000345432:S452I|.	S|V	-|-	2|1	0|0	DOCK4|DOCK4	111327755|111327755	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.945000|0.945000	0.59286|0.59286	7.818000|7.818000	0.86416|0.86416	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	AGT|GTC		0.488	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705		7	18	1	0	0.00621372	0.00888377	7	18				
ASZ1	136991	broad.mit.edu	37	7	117023080	117023080	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:117023080A>T	ENST00000284629.2	-	7	834	c.772T>A	c.(772-774)Ttg>Atg	p.L258M		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TCTGTTGTCAATATTTTACAA	0.259																																						uc003vjb.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(772-774)TTG>ATG		ankyrin repeat, SAM and basic leucine zipper							56.0	58.0	57.0					7																	117023080		2197	4265	6462	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117023080A>T	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.772T>A	7.37:g.117023080A>T	ENSP00000284629:p.Leu258Met					ASZ1_uc011kno.1_Missense_Mutation_p.L258M|ASZ1_uc011knp.1_Missense_Mutation_p.L50M	p.L258M	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		7	835	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		258						Missense_Mutation	SNP	ENST00000284629.2	37	c.772T>A	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260992	0.59431	.	.	ENSG00000154438	ENST00000284629	D	0.85484	-1.99	5.78	3.42	0.39159	.	0.076161	0.56097	D	0.000021	D	0.90170	0.6928	M	0.74258	2.255	0.40955	D	0.984578	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88383	0.3003	10	0.52906	T	0.07	2.0542	8.0796	0.30737	0.8395:0.0:0.1605:0.0	.	258;258	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	M	258	ENSP00000284629:L258M	ENSP00000284629:L258M	L	-	1	2	ASZ1	116810316	0.530000	0.26330	0.286000	0.24833	0.769000	0.43574	0.808000	0.27154	0.474000	0.27392	0.528000	0.53228	TTG		0.259	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		12	46	0	0	0	0	12	46				
CFTR	1080	broad.mit.edu	37	7	117246788	117246788	+	Missense_Mutation	SNP	C	C	A	rs201761547		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:117246788C>A	ENST00000003084.6	+	18	3101	c.2969C>A	c.(2968-2970)aCc>aAc	p.T990N	CFTR_ENST00000454343.1_Missense_Mutation_p.T929N|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	990	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	CTGCCTCTTACCATATTTGAC	0.289									Cystic Fibrosis																													uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2968-2970)ACC>AAC		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						135.0	140.0	138.0					7																	117246788		2203	4290	6493	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117246788C>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2969C>A	7.37:g.117246788C>A	ENSP00000003084:p.Thr990Asn					CFTR_uc011knq.1_Missense_Mutation_p.T396N	p.T990N	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		18	3101	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		990			Cytoplasmic (Potential).|ABC transmembrane type-1 2.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.2969C>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954396	0.73902	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.89552	-2.53;-2.53;-2.53	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.282790	0.40908	D	0.000997	D	0.90940	0.7152	L	0.59436	1.845	0.42714	D	0.99365	P	0.49447	0.924	P	0.49597	0.616	D	0.91913	0.5541	10	0.87932	D	0	-18.1311	19.5514	0.95322	0.0:1.0:0.0:0.0	.	990	P13569	CFTR_HUMAN	N	990;929;960	ENSP00000003084:T990N;ENSP00000403677:T929N;ENSP00000389119:T960N	ENSP00000003084:T990N	T	+	2	0	CFTR	117034024	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.488000	0.66869	2.705000	0.92388	0.650000	0.86243	ACC		0.289	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		23	89	1	0	3.29e-13	6.16e-13	23	89				
HYAL4	23553	broad.mit.edu	37	7	123508735	123508735	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:123508735A>G	ENST00000223026.4	+	3	1046	c.408A>G	c.(406-408)gaA>gaG	p.E136E	HYAL4_ENST00000476325.1_Silent_p.E136E	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	136					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCCCTGCTGAAGATTTCAGTG	0.428																																						uc003vlc.2		NA																	0				skin(1)	1						c.(406-408)GAA>GAG		hyaluronoglucosaminidase 4							84.0	90.0	88.0					7																	123508735		2203	4300	6503	SO:0001819	synonymous_variant	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508735A>G	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.408A>G	7.37:g.123508735A>G						HYAL4_uc011knz.1_Silent_p.E136E	p.E136E	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			3	1046	+			136			Extracellular (Potential).		D0VXG1|Q9UL99|Q9Y6T9	Silent	SNP	ENST00000223026.4	37	c.408A>G	CCDS5789.1																																																																																				0.428	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269		19	63	0	0	0	0	19	63				
GCC1	79571	broad.mit.edu	37	7	127223058	127223058	+	Silent	SNP	C	C	T	rs200740651	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:127223058C>T	ENST00000321407.2	-	2	1762	c.1338G>A	c.(1336-1338)gcG>gcA	p.A446A	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.A446A(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTTTCCTGGCCGCAACCTGCA	0.557													C|||	3	0.000599042	0.0015	0.0	5008	,	,		19005	0.001		0.0	False		,,,				2504	0.0					uc003vma.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	ovary(2)	2						c.(1336-1338)GCG>GCA		Golgi coiled-coil protein 1							95.0	99.0	98.0					7																	127223058		2203	4300	6503	SO:0001819	synonymous_variant	79571					Golgi membrane|plasma membrane	protein binding	g.chr7:127223058C>T	AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1338G>A	7.37:g.127223058C>T							p.A446A	NM_024523	NP_078799	Q96CN9	GCC1_HUMAN			2	1756	-			446			Potential.		Q9H6N7	Silent	SNP	ENST00000321407.2	37	c.1338G>A	CCDS5796.1																																																																																				0.557	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059911.3	NM_024523		45	132	0	0	0	0	45	132				
DGKI	9162	broad.mit.edu	37	7	137237200	137237200	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:137237200G>T	ENST00000288490.5	-	20	2062	c.2062C>A	c.(2062-2064)Cca>Aca	p.P688T	DGKI_ENST00000424189.2_Missense_Mutation_p.P688T|DGKI_ENST00000453654.2_Missense_Mutation_p.P388T|DGKI_ENST00000446122.1_Missense_Mutation_p.P688T	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	688					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCATAGCTGGGGCCAACCTA	0.517																																						uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(2062-2064)CCA>ACA		diacylglycerol kinase, iota							150.0	133.0	139.0					7																	137237200		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237200G>T	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2062C>A	7.37:g.137237200G>T	ENSP00000288490:p.Pro688Thr					DGKI_uc003vtu.2_Missense_Mutation_p.P388T	p.P688T	NM_004717	NP_004708	O75912	DGKI_HUMAN			20	2063	-			688					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2062C>A	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845302	0.91197	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.53640	0.61;0.61;0.61	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.77486	2.375	0.80722	D	1	D;D	0.71674	0.991;0.998	D;D	0.73380	0.918;0.98	T	0.73557	-0.3945	10	0.87932	D	0	.	20.1253	0.97977	0.0:0.0:1.0:0.0	.	388;688	E9PFX6;O75912	.;DGKI_HUMAN	T	388;636;688;688;688	ENSP00000392161:P388T;ENSP00000288490:P688T;ENSP00000399131:P688T	ENSP00000288490:P688T	P	-	1	0	DGKI	136887740	1.000000	0.71417	0.991000	0.47740	0.999000	0.98932	9.813000	0.99286	2.832000	0.97577	0.655000	0.94253	CCA		0.517	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		40	98	1	0	6.05e-29	1.27e-28	40	98				
DGKI	9162	broad.mit.edu	37	7	137271843	137271843	+	Splice_Site	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:137271843C>A	ENST00000288490.5	-	13	1425	c.1425G>T	c.(1423-1425)ggG>ggT	p.G475G	DGKI_ENST00000424189.2_Splice_Site_p.G475G|DGKI_ENST00000453654.2_Splice_Site_p.G175G|DGKI_ENST00000446122.1_Splice_Site_p.G475G	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	475	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CAGTTCTTACCCCTCCCCAGT	0.552																																						uc003vtt.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(1423-1425)GGG>GGT		diacylglycerol kinase, iota							87.0	77.0	81.0					7																	137271843		2203	4300	6503	SO:0001630	splice_region_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137271843C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1425+1G>T	7.37:g.137271843C>A						DGKI_uc003vtu.2_Silent_p.G175G	p.G475G	NM_004717	NP_004708	O75912	DGKI_HUMAN			13	1426	-			475			DAGKc.		A4D1Q9|Q9NZ49	Silent	SNP	ENST00000288490.5	37	c.1425G>T	CCDS5845.1																																																																																				0.552	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	Silent	18	54	1	0	5.39e-06	8.68e-06	18	54				
PARP12	64761	broad.mit.edu	37	7	139756947	139756947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:139756947G>A	ENST00000263549.3	-	3	1342	c.469C>T	c.(469-471)Caa>Taa	p.Q157*		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	157						nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTGTAATGTTGGCAAATCTGT	0.498																																						uc003vvl.1		NA																	0				ovary(3)	3						c.(469-471)CAA>TAA		poly ADP-ribose polymerase 12							82.0	90.0	87.0					7																	139756947		2203	4300	6503	SO:0001587	stop_gained	64761					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	g.chr7:139756947G>A	AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.469C>T	7.37:g.139756947G>A	ENSP00000263549:p.Gln157*					PARP12_uc003vvk.1_5'UTR|PARP12_uc010lnf.1_RNA	p.Q157*	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN			3	1343	-	Melanoma(164;0.0142)		157			C3H1-type 2.		Q9H610|Q9NP36|Q9NTI3	Nonsense_Mutation	SNP	ENST00000263549.3	37	c.469C>T	CCDS5857.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255208	0.95336	.	.	ENSG00000059378	ENST00000263549	.	.	.	5.61	3.66	0.41972	.	0.658913	0.15735	N	0.247229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	3.2471	0.06801	0.1471:0.2549:0.4681:0.1298	.	.	.	.	X	157	.	ENSP00000263549:Q157X	Q	-	1	0	PARP12	139403416	0.082000	0.21442	0.998000	0.56505	0.952000	0.60782	0.221000	0.17680	1.348000	0.45733	0.544000	0.68410	CAA		0.498	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348413.1	NM_022750		30	76	0	0	0	0	30	76				
DENND2A	27147	broad.mit.edu	37	7	140244499	140244499	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:140244499G>C	ENST00000275884.6	-	13	2663	c.2246C>G	c.(2245-2247)tCc>tGc	p.S749C	DENND2A_ENST00000492720.1_Missense_Mutation_p.S749C|DENND2A_ENST00000496613.1_Missense_Mutation_p.S749C|DENND2A_ENST00000537639.1_Missense_Mutation_p.S749C			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	749	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GACGCTGAGGGAGGAGAAGAG	0.602																																						uc010lnj.2		NA																	0				ovary(3)|breast(1)	4						c.(2245-2247)TCC>TGC		DENN/MADD domain containing 2A							44.0	53.0	50.0					7																	140244499		2184	4285	6469	SO:0001583	missense	27147							g.chr7:140244499G>C	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.2246C>G	7.37:g.140244499G>C	ENSP00000275884:p.Ser749Cys					DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.S749C|DENND2A_uc003vvw.2_Missense_Mutation_p.S749C|DENND2A_uc003vvx.2_Missense_Mutation_p.S749C	p.S749C	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			12	2391	-	Melanoma(164;0.00956)		749			DENN.		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.2246C>G	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	4.343	0.063041	0.08388	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000469373;ENST00000492720	T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86	4.95	3.12	0.35913	DENN (3);	0.069717	0.64402	N	0.000014	T	0.02807	0.0084	N	0.00811	-1.165	0.46203	D	0.998925	P;B	0.37061	0.58;0.002	B;B	0.33254	0.16;0.015	T	0.44221	-0.9342	10	0.02654	T	1	-9.4992	15.3048	0.73985	0.0:0.2653:0.7347:0.0	.	749;749	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	C	749;749;749;96;749	ENSP00000275884:S749C;ENSP00000442245:S749C;ENSP00000419654:S749C;ENSP00000420145:S96C;ENSP00000419464:S749C	ENSP00000275884:S749C	S	-	2	0	DENND2A	139890968	0.999000	0.42202	0.939000	0.37840	0.988000	0.76386	3.165000	0.50778	0.681000	0.31386	0.650000	0.86243	TCC		0.602	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689		8	25	0	0	0	0	8	25				
TAS2R38	5726	broad.mit.edu	37	7	141673292	141673292	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:141673292G>T	ENST00000547270.1	-	1	281	c.198C>A	c.(196-198)ttC>ttA	p.F66L		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	66					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GTCCATGCAGGAAAAGCCGGC	0.493																																						uc003vwx.1		NA																	0				kidney(1)|skin(1)	2						c.(196-198)TTC>TTA		taste receptor, type 2, member 38							126.0	119.0	121.0					7																	141673292		2203	4300	6503	SO:0001583	missense	5726				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:141673292G>T	AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.198C>A	7.37:g.141673292G>T	ENSP00000448219:p.Phe66Leu						p.F66L	NM_176817	NP_789787	P59533	T2R38_HUMAN			1	282	-	Melanoma(164;0.0171)		66			Helical; Name=2; (Potential).		A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Missense_Mutation	SNP	ENST00000547270.1	37	c.198C>A	CCDS34765.1	.	.	.	.	.	.	.	.	.	.	G	4.630	0.117048	0.08881	.	.	ENSG00000257138	ENST00000547270	T	0.27720	1.65	5.1	1.27	0.21489	.	0.481200	0.20899	N	0.083671	T	0.15478	0.0373	L	0.28115	0.83	0.29492	N	0.855535	B	0.06786	0.001	B	0.09377	0.004	T	0.26121	-1.0112	10	0.12766	T	0.61	.	4.8353	0.13462	0.254:0.1549:0.5911:0.0	.	66	P59533	T2R38_HUMAN	L	66	ENSP00000448219:F66L	ENSP00000331291:F66L	F	-	3	2	TAS2R38	141319761	0.994000	0.37717	0.755000	0.31263	0.200000	0.23975	0.606000	0.24194	0.056000	0.16144	-0.150000	0.13652	TTC		0.493	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350810.2	NM_176817		37	85	1	0	2.42e-17	4.8e-17	37	85				
TAS2R40	259286	broad.mit.edu	37	7	142919319	142919319	+	Missense_Mutation	SNP	G	G	C	rs369801609		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:142919319G>C	ENST00000408947.3	+	1	190	c.148G>C	c.(148-150)Ggc>Cgc	p.G50R	AC073342.1_ENST00000595842.1_Silent_p.A14A	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	50					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GTGGGCCAGGGGCAAAACACT	0.522																																						uc011ksx.1		NA																	0				ovary(1)	1						c.(148-150)GGC>CGC		taste receptor, type 2, member 40							95.0	96.0	96.0					7																	142919319		1978	4164	6142	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919319G>C	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.148G>C	7.37:g.142919319G>C	ENSP00000386210:p.Gly50Arg						p.G50R	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	148	+	Melanoma(164;0.059)		50			Cytoplasmic (Potential).		A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.148G>C	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873350	0.33069	.	.	ENSG00000221937	ENST00000408947	T	0.32515	1.45	5.18	-1.92	0.07618	.	0.439982	0.21704	U	0.070375	T	0.12263	0.0298	N	0.13043	0.29	0.09310	N	1	B	0.15473	0.013	B	0.17433	0.018	T	0.32613	-0.9900	10	0.09843	T	0.71	.	6.4343	0.21815	0.642:0.1564:0.2017:0.0	.	50	P59535	T2R40_HUMAN	R	50	ENSP00000386210:G50R	ENSP00000386210:G50R	G	+	1	0	TAS2R40	142629441	0.000000	0.05858	0.000000	0.03702	0.933000	0.57130	0.121000	0.15667	-0.216000	0.10048	0.655000	0.94253	GGC		0.522	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			23	66	0	0	0	0	23	66				
OR2F1	26211	broad.mit.edu	37	7	143657134	143657134	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:143657134G>T	ENST00000392899.1	+	1	108	c.71G>T	c.(70-72)cGg>cTg	p.R24L	RP4-669B10.3_ENST00000466281.1_lincRNA	NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	24					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R24L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TGGGACACTCGGGTCTCCCTG	0.473																																						uc003wds.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(70-72)CGG>CTG		olfactory receptor, family 2, subfamily F,							220.0	207.0	212.0					7																	143657134		2203	4300	6503	SO:0001583	missense	26211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143657134G>T	U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215		"""GPCR / Class A : Olfactory receptors"""	8246	protein-coding gene	gene with protein product		608497	"""olfactory receptor, family 2, subfamily F, member 1"""	OR2F4, OR2F5, OR2F3, OR2F3P		9500546	Standard	NM_012369		Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.71G>T	7.37:g.143657134G>T	ENSP00000376633:p.Arg24Leu						p.R24L	NM_012369	NP_036501	Q13607	OR2F1_HUMAN			1	115	+	Melanoma(164;0.0903)		24			Extracellular (Potential).		A4D2G1|Q6IFP7|Q96R49|Q9UDX1	Missense_Mutation	SNP	ENST00000392899.1	37	c.71G>T	CCDS5887.1	.	.	.	.	.	.	.	.	.	.	A	8.479	0.859293	0.17178	.	.	ENSG00000213215	ENST00000392899	T	0.00441	7.41	5.65	5.65	0.86999	.	0.285367	0.25313	N	0.031577	T	0.00412	0.0013	L	0.51914	1.62	0.09310	N	1	B	0.12630	0.006	B	0.16289	0.015	T	0.47114	-0.9142	10	0.87932	D	0	-0.8632	9.9845	0.41832	0.9214:0.0:0.0786:0.0	.	24	Q13607	OR2F1_HUMAN	L	24	ENSP00000376633:R24L	ENSP00000376633:R24L	R	+	2	0	OR2F1	143288067	0.000000	0.05858	0.349000	0.25694	0.109000	0.19521	0.995000	0.29706	1.158000	0.42547	-0.254000	0.11334	CGG		0.473	OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349581.1			80	142	1	0	1.46e-39	3.11e-39	80	142				
OR2A5	393046	broad.mit.edu	37	7	143747689	143747689	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:143747689G>T	ENST00000408906.2	+	1	229	c.195G>T	c.(193-195)ctG>ctT	p.L65L		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTCACACCTGGCCATCATTG	0.488																																						uc011ktw.1		NA																	0				ovary(3)	3						c.(193-195)CTG>CTT		olfactory receptor, family 2, subfamily A,							93.0	94.0	94.0					7																	143747689		2200	4300	6500	SO:0001819	synonymous_variant	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143747689G>T	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.195G>T	7.37:g.143747689G>T							p.L65L	NM_012365	NP_036497	Q96R48	OR2A5_HUMAN			1	195	+	Melanoma(164;0.0783)		65			Helical; Name=2; (Potential).		B9EGX2|O43885|O43888	Silent	SNP	ENST00000408906.2	37	c.195G>T	CCDS43668.1																																																																																				0.488	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			18	77	1	0	3.53e-06	5.7e-06	18	77				
OR2A12	346525	broad.mit.edu	37	7	143793100	143793100	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:143793100A>G	ENST00000408949.2	+	1	960	c.900A>G	c.(898-900)ctA>ctG	p.L300L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	300						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)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGGGGCTCTAAAGAGAGTCC	0.453																																						uc011kty.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(898-900)CTA>CTG		olfactory receptor, family 2, subfamily A,							163.0	156.0	158.0					7																	143793100		1861	4103	5964	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793100A>G		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.900A>G	7.37:g.143793100A>G							p.L300L	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	900	+	Melanoma(164;0.0783)		300			Cytoplasmic (Potential).		Q6IF43	Silent	SNP	ENST00000408949.2	37	c.900A>G	CCDS43670.1																																																																																				0.453	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1			68	186	0	0	0	0	68	186				
OR2A14	135941	broad.mit.edu	37	7	143826284	143826284	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:143826284T>C	ENST00000408899.2	+	1	134	c.79T>C	c.(79-81)Tgt>Cgt	p.C27R		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GATTCTCCTCTGTGGACTTTT	0.502																																						uc011kua.1		NA																	0					0						c.(79-81)TGT>CGT		olfactory receptor, family 2, subfamily A,							134.0	131.0	132.0					7																	143826284		2027	4200	6227	SO:0001583	missense	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826284T>C		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.79T>C	7.37:g.143826284T>C	ENSP00000386137:p.Cys27Arg						p.C27R	NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN			1	79	+	Melanoma(164;0.0783)		27			Helical; Name=1; (Potential).		Q6IF41|Q8NGT8	Missense_Mutation	SNP	ENST00000408899.2	37	c.79T>C	CCDS43672.1	.	.	.	.	.	.	.	.	.	.	T	8.437	0.849866	0.17034	.	.	ENSG00000221938	ENST00000408899	T	0.02944	4.1	4.18	4.18	0.49190	.	.	.	.	.	T	0.03520	0.0101	L	0.34521	1.04	0.47094	D	0.999314	B	0.15141	0.012	B	0.23716	0.048	T	0.43294	-0.9400	9	0.87932	D	0	-12.2288	11.5062	0.50468	0.0:0.0:0.0:1.0	.	27	Q96R47	O2A14_HUMAN	R	27	ENSP00000386137:C27R	ENSP00000386137:C27R	C	+	1	0	OR2A14	143457217	0.993000	0.37304	0.069000	0.20011	0.014000	0.08584	5.141000	0.64814	1.868000	0.54150	0.459000	0.35465	TGT		0.502	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1			28	80	0	0	0	0	28	80				
ZNF467	168544	broad.mit.edu	37	7	149462862	149462862	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:149462862G>A	ENST00000302017.3	-	5	1142	c.729C>T	c.(727-729)ccC>ccT	p.P243P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	243					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)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCACGGGTAGGGCCGCTCGC	0.687																																						uc003wgd.2		NA																	0					0						c.(727-729)CCC>CCT		zinc finger protein 467							24.0	20.0	22.0					7																	149462862		2202	4299	6501	SO:0001819	synonymous_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149462862G>A	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.729C>T	7.37:g.149462862G>A						ZNF467_uc003wgc.2_Intron	p.P243P	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	870	-	Melanoma(164;0.165)|Ovarian(565;0.177)		243						Silent	SNP	ENST00000302017.3	37	c.729C>T	CCDS5899.1																																																																																				0.687	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		12	20	0	0	0	0	12	20				
GALNTL5	168391	broad.mit.edu	37	7	151711783	151711783	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:151711783A>G	ENST00000392800.2	+	8	1335	c.1081A>G	c.(1081-1083)Atc>Gtc	p.I361V	GALNTL5_ENST00000431418.2_Missense_Mutation_p.I361V	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	361	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		AGTAGGACATATCAGTAAGAA	0.408																																						uc003wkp.2		NA																	0				ovary(2)	2						c.(1081-1083)ATC>GTC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							162.0	142.0	149.0					7																	151711783		2203	4300	6503	SO:0001583	missense	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151711783A>G	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.1081A>G	7.37:g.151711783A>G	ENSP00000376548:p.Ile361Val					GALNTL5_uc003wkq.2_Missense_Mutation_p.I112V|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.I250V	p.I361V	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	8	1304	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	361			Catalytic subdomain B.|Lumenal (Potential).		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	ENST00000392800.2	37	c.1081A>G	CCDS5929.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.780391	0.31502	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.66099	-0.19;-0.19	3.64	2.47	0.30058	.	0.454150	0.16359	N	0.217849	T	0.36963	0.0986	N	0.21142	0.635	0.30092	N	0.808192	B;B	0.29162	0.018;0.235	B;B	0.23574	0.047;0.039	T	0.35968	-0.9767	10	0.02654	T	1	.	6.4294	0.21788	0.8826:0.0:0.1174:0.0	.	112;361	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	V	361	ENSP00000392582:I361V;ENSP00000376548:I361V	ENSP00000376548:I361V	I	+	1	0	GALNTL5	151342716	0.995000	0.38212	0.046000	0.18839	0.822000	0.46500	3.104000	0.50306	0.480000	0.27534	0.402000	0.26972	ATC		0.408	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292		22	57	0	0	0	0	22	57				
PTPRN2	5799	broad.mit.edu	37	7	157364177	157364177	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr7:157364177T>C	ENST00000389418.4	-	20	2801	c.2792A>G	c.(2791-2793)aAc>aGc	p.N931S	PTPRN2_ENST00000389413.3_Missense_Mutation_p.N902S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.N893S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.N914S|PTPRN2_ENST00000404321.2_Missense_Mutation_p.N954S|MIR153-2_ENST00000385225.1_RNA	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	931	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GTAGCACTTGTTTACTTTTCT	0.338																																						uc003wno.2		NA																	0				ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7						c.(2791-2793)AAC>AGC		protein tyrosine phosphatase, receptor type, N							68.0	73.0	71.0					7																	157364177		2203	4300	6503	SO:0001583	missense	5799					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:157364177T>C	AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2792A>G	7.37:g.157364177T>C	ENSP00000374069:p.Asn931Ser					PTPRN2_uc003wnp.2_Missense_Mutation_p.N914S|PTPRN2_uc003wnq.2_Missense_Mutation_p.N902S|PTPRN2_uc003wnr.2_Missense_Mutation_p.N893S|PTPRN2_uc011kwa.1_Missense_Mutation_p.N954S|PTPRN2_uc003wnn.2_5'Flank	p.N931S	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)	20	2913	-	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	931			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	ENST00000389418.4	37	c.2792A>G	CCDS5947.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130382	0.77549	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	4.77	4.77	0.60923	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	L	0.56769	1.78	0.58432	D	0.999996	D;D;D;D;D	0.89917	0.991;0.98;0.975;1.0;0.98	P;P;P;D;P	0.81914	0.759;0.845;0.759;0.995;0.845	D	0.89714	0.3914	10	0.62326	D	0.03	.	14.3152	0.66446	0.0:0.0:0.0:1.0	.	954;893;902;914;931	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	S	893;902;914;931;954	ENSP00000387114:N893S;ENSP00000374064:N902S;ENSP00000374067:N914S;ENSP00000374069:N931S;ENSP00000385464:N954S	ENSP00000374064:N902S	N	-	2	0	PTPRN2	157056938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.318000	0.79029	1.763000	0.52060	0.460000	0.39030	AAC		0.338	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353214.1			21	63	0	0	0	0	21	63				
SGK223	157285	broad.mit.edu	37	8	8185684	8185684	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:8185684G>A	ENST00000520004.1	-	5	2872	c.2608C>T	c.(2608-2610)Cac>Tac	p.H870Y	SGK223_ENST00000330777.4_Missense_Mutation_p.H870Y			Q86YV5	SG223_HUMAN		872							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACAGGATGGTGGCGGTTCCCG	0.592																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3		NA																	0					0						c.(2608-2610)CAC>TAC		pragmin							180.0	193.0	189.0					8																	8185684		1942	4140	6082	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8185684G>A																												ENST00000520004.1:c.2608C>T	8.37:g.8185684G>A	ENSP00000428054:p.His870Tyr						p.H870Y	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			4	2608	-			870					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.2608C>T	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	3.914	-0.019500	0.07634	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.58210	0.35;0.35	4.44	3.55	0.40652	.	0.540216	0.17697	N	0.165060	T	0.44973	0.1319	L	0.47716	1.5	0.25137	N	0.990527	B	0.06786	0.001	B	0.04013	0.001	T	0.40757	-0.9546	10	0.48119	T	0.1	.	11.1839	0.48644	0.0887:0.0:0.9113:0.0	.	870	Q86YV5	SG223_HUMAN	Y	870	ENSP00000330930:H870Y;ENSP00000428054:H870Y	ENSP00000330930:H870Y	H	-	1	0	AC068353.1	8223094	1.000000	0.71417	0.325000	0.25375	0.097000	0.18754	4.690000	0.61731	1.432000	0.47375	0.563000	0.77884	CAC		0.592	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			91	239	0	0	0	0	91	239				
MFHAS1	9258	broad.mit.edu	37	8	8750112	8750112	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:8750112G>C	ENST00000276282.6	-	1	1043	c.457C>G	c.(457-459)Cag>Gag	p.Q153E		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	153										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GCGCCCAGCTGGGCGGGCAGG	0.692																																					Melanoma(103;1201 2045 17515 28966)	uc003wsj.1		NA																	0					0						c.(457-459)CAG>GAG		malignant fibrous histiocytoma amplified							15.0	21.0	19.0					8																	8750112		2194	4295	6489	SO:0001583	missense	9258							g.chr8:8750112G>C	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.457C>G	8.37:g.8750112G>C	ENSP00000276282:p.Gln153Glu						p.Q153E	NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN		COAD - Colon adenocarcinoma(149;0.124)	1	1020	-		Hepatocellular(245;0.217)	153			LRR 4.		Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	37	c.457C>G	CCDS34844.1	.	.	.	.	.	.	.	.	.	.	G	1.040	-0.679100	0.03378	.	.	ENSG00000147324	ENST00000276282	T	0.29917	1.55	5.29	5.29	0.74685	.	0.086182	0.48767	D	0.000165	T	0.10337	0.0253	N	0.00760	-1.21	0.53005	D	0.999969	B	0.23316	0.083	B	0.19391	0.025	T	0.27054	-1.0085	10	0.02654	T	1	.	17.5045	0.87741	0.0:0.0:1.0:0.0	.	153	Q9Y4C4	MFHA1_HUMAN	E	153	ENSP00000276282:Q153E	ENSP00000276282:Q153E	Q	-	1	0	MFHAS1	8787522	1.000000	0.71417	0.998000	0.56505	0.634000	0.38068	3.258000	0.51507	2.456000	0.83038	0.563000	0.77884	CAG		0.692	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	NM_004225		6	13	0	0	0	0	6	13				
TNKS	8658	broad.mit.edu	37	8	9609323	9609323	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:9609323G>T	ENST00000310430.6	+	19	3063	c.3037G>T	c.(3037-3039)Ggc>Tgc	p.G1013C	TNKS_ENST00000518281.1_Missense_Mutation_p.G776C	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1013					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGCAGGGGATGGCGCCGCGGG	0.522																																						uc003wss.2		NA																	0				lung(4)|ovary(2)|kidney(1)	7						c.(3037-3039)GGC>TGC		tankyrase, TRF1-interacting ankyrin-related							68.0	72.0	71.0					8																	9609323		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609323G>T	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3037G>T	8.37:g.9609323G>T	ENSP00000311579:p.Gly1013Cys					TNKS_uc011kww.1_Missense_Mutation_p.G776C|TNKS_uc010lrt.1_RNA	p.G1013C	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	19	3042	+			1013					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3037G>T	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053849	0.75960	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.63580	-0.05;0.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.66489	0.2794	L	0.29908	0.895	0.80722	D	1	D	0.58620	0.983	P	0.54759	0.76	T	0.68454	-0.5404	10	0.62326	D	0.03	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	1013	O95271	TNKS1_HUMAN	C	1013;776	ENSP00000311579:G1013C;ENSP00000429890:G776C	ENSP00000311579:G1013C	G	+	1	0	TNKS	9646733	1.000000	0.71417	0.859000	0.33776	0.220000	0.24768	9.624000	0.98398	2.698000	0.92095	0.655000	0.94253	GGC		0.522	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		39	101	1	0	5.45e-19	1.1e-18	39	101				
RP1L1	94137	broad.mit.edu	37	8	10470038	10470038	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:10470038T>A	ENST00000382483.3	-	4	1793	c.1570A>T	c.(1570-1572)Agg>Tgg	p.R524W		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	524					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCGGGCCCTCGGTGTCAGG	0.697																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1570-1572)AGG>TGG		retinitis pigmentosa 1-like 1							29.0	35.0	33.0					8																	10470038		1956	4128	6084	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470038T>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1570A>T	8.37:g.10470038T>A	ENSP00000371923:p.Arg524Trp						p.R524W	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1799	-			524					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.1570A>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466210	0.63625	.	.	ENSG00000183638	ENST00000382483	T	0.04758	3.56	4.36	-0.55	0.11825	.	2.060460	0.03104	U	0.161557	T	0.08358	0.0208	N	0.19112	0.55	0.09310	N	1	D	0.63880	0.993	P	0.58721	0.844	T	0.21449	-1.0245	10	0.72032	D	0.01	-0.1292	5.1847	0.15178	0.0:0.5751:0.1683:0.2566	.	524	A6NKC6	.	W	524	ENSP00000371923:R524W	ENSP00000371923:R524W	R	-	1	2	RP1L1	10507448	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.545000	0.02190	-0.405000	0.07599	0.254000	0.18369	AGG		0.697	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			22	67	0	0	0	0	22	67				
SGCZ	137868	broad.mit.edu	37	8	13959967	13959967	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:13959967C>A	ENST00000382080.1	-	7	1377	c.662G>T	c.(661-663)cGt>cTt	p.R221L	SGCZ_ENST00000421524.2_Missense_Mutation_p.R174L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	208					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGGACCCCACGGGGAGCTTC	0.458																																						uc003wwq.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(661-663)CGT>CTT		sarcoglycan zeta							46.0	45.0	45.0					8																	13959967		2203	4300	6503	SO:0001583	missense	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13959967C>A	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.662G>T	8.37:g.13959967C>A	ENSP00000371512:p.Arg221Leu					SGCZ_uc010lss.2_Missense_Mutation_p.R174L	p.R221L	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	7	1322	-			208			Extracellular (Potential).		Q6REU0	Missense_Mutation	SNP	ENST00000382080.1	37	c.662G>T	CCDS5992.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972796	0.74246	.	.	ENSG00000185053	ENST00000382080;ENST00000421524	D;D	0.94828	-3.53;-3.53	5.6	5.6	0.85130	.	0.046312	0.85682	D	0.000000	D	0.93439	0.7907	L	0.49126	1.545	0.41759	D	0.989707	P;P	0.40578	0.722;0.673	P;B	0.46144	0.505;0.362	D	0.92703	0.6176	10	0.49607	T	0.09	.	11.9768	0.53096	0.0:0.92:0.0:0.08	.	174;221	Q08AT0;Q96LD1-2	.;.	L	221;174	ENSP00000371512:R221L;ENSP00000405224:R174L	ENSP00000371512:R221L	R	-	2	0	SGCZ	14004338	0.957000	0.32711	0.880000	0.34516	0.985000	0.73830	2.151000	0.42263	2.809000	0.96659	0.655000	0.94253	CGT		0.458	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		16	44	1	0	2.32e-05	3.65e-05	16	44				
ATP6V1B2	526	broad.mit.edu	37	8	20075667	20075667	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:20075667G>A	ENST00000276390.2	+	13	1310	c.1270G>A	c.(1270-1272)Gcg>Acg	p.A424T		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	424				AC -> RA (in Ref. 7; AAA35610). {ECO:0000305}.	ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|ruffle (GO:0001726)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	Gallium nitrate(DB05260)	TCTTTAGTATGCGTGCTATGC	0.438																																					Pancreas(119;1230 1726 3901 4036 31644)	uc003wzp.2		NA																	0					0						c.(1270-1272)GCG>ACG		vacuolar H+ATPase B2							147.0	136.0	139.0					8																	20075667		2203	4300	6503	SO:0001583	missense	526				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr8:20075667G>A	L35249	CCDS6014.1	8p21.3	2010-04-21	2006-01-13	2002-05-10	ENSG00000147416	ENSG00000147416	3.6.3.14	"""ATPases / V-type"""	854	protein-coding gene	gene with protein product		606939	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), beta polypeptide, 56/58kD, isoform 2"", ""ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B, isoform 2"""	VPP3, ATP6B2		2145275, 14580332	Standard	NM_001693		Approved	VATB, Vma2, HO57	uc003wzp.3	P21281	OTTHUMG00000131073	ENST00000276390.2:c.1270G>A	8.37:g.20075667G>A	ENSP00000276390:p.Ala424Thr					ATP6V1B2_uc003wzq.1_5'Flank	p.A424T	NM_001693	NP_001684	P21281	VATB2_HUMAN		Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)	13	1484	+			424	AC -> RA (in Ref. 7; AAA35610).				B2R5Z3|D3DSQ5|Q14544|Q15859|Q96IR0	Missense_Mutation	SNP	ENST00000276390.2	37	c.1270G>A	CCDS6014.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952508	0.92660	.	.	ENSG00000147416	ENST00000276390;ENST00000542368	T	0.76839	-1.05	5.56	5.56	0.83823	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87216	0.6122	H	0.96048	3.76	0.80722	D	1	P	0.48294	0.908	B	0.44315	0.446	D	0.91134	0.4940	10	0.72032	D	0.01	-7.9189	18.4465	0.90686	0.0:0.0:1.0:0.0	.	424	P21281	VATB2_HUMAN	T	424;298	ENSP00000276390:A424T	ENSP00000276390:A424T	A	+	1	0	ATP6V1B2	20119947	1.000000	0.71417	0.942000	0.38095	0.690000	0.40134	9.869000	0.99810	2.777000	0.95525	0.655000	0.94253	GCG		0.438	ATP6V1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253732.1	NM_001693		36	84	0	0	0	0	36	84				
GFRA2	2675	broad.mit.edu	37	8	21560483	21560483	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:21560483G>C	ENST00000524240.1	-	7	1702	c.1052C>G	c.(1051-1053)gCc>gGc	p.A351G	GFRA2_ENST00000400782.4_Missense_Mutation_p.A246G|GFRA2_ENST00000518077.1_Missense_Mutation_p.A218G|GFRA2_ENST00000517328.1_Missense_Mutation_p.A351G	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	351					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGGATGGCGTTCCCTGG	0.632																																						uc003wzu.1		NA																	0					0						c.(1051-1053)GCC>GGC		GDNF family receptor alpha 2 isoform a							31.0	35.0	34.0					8																	21560483		2096	4206	6302	SO:0001583	missense	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21560483G>C	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.1052C>G	8.37:g.21560483G>C	ENSP00000428518:p.Ala351Gly					GFRA2_uc003wzv.1_Missense_Mutation_p.A246G|GFRA2_uc003wzw.1_Missense_Mutation_p.A218G	p.A351G	NM_001495	NP_001486	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	7	1727	-			351					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Missense_Mutation	SNP	ENST00000524240.1	37	c.1052C>G	CCDS47816.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722722	0.89298	.	.	ENSG00000168546	ENST00000524240;ENST00000400782;ENST00000517328;ENST00000518077;ENST00000517892	T;T;T;T;T	0.39997	1.49;1.06;1.49;1.05;1.06	4.88	4.88	0.63580	.	0.101606	0.64402	D	0.000002	T	0.64638	0.2616	M	0.77313	2.365	0.80722	D	1	D;D;D	0.61697	0.99;0.986;0.965	P;D;P	0.69307	0.875;0.963;0.752	T	0.69639	-0.5091	10	0.87932	D	0	-27.6133	15.3085	0.74011	0.0:0.0:1.0:0.0	.	218;246;351	O00451-2;E9PD47;O00451	.;.;GFRA2_HUMAN	G	351;246;351;218;246	ENSP00000428518:A351G;ENSP00000383592:A246G;ENSP00000429445:A351G;ENSP00000429206:A218G;ENSP00000429979:A246G	ENSP00000383592:A246G	A	-	2	0	GFRA2	21604763	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.346000	0.79347	2.411000	0.81874	0.561000	0.74099	GCC		0.632	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		5	11	0	0	0	0	5	11				
PEBP4	157310	broad.mit.edu	37	8	22675246	22675246	+	Silent	SNP	G	G	T	rs376118303		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:22675246G>T	ENST00000256404.6	-	4	352	c.261C>A	c.(259-261)ggC>ggA	p.G87G	PEBP4_ENST00000521284.1_5'UTR	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	87						extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TATAGGTTGCGCCCTGTAACA	0.493																																						uc003xcn.1		NA																	0				ovary(1)|large_intestine(1)|breast(1)|skin(1)	4						c.(259-261)GGC>GGA		phosphatidylethanolamine-binding protein 4							109.0	107.0	108.0					8																	22675246		1954	4152	6106	SO:0001819	synonymous_variant	157310					lysosome		g.chr8:22675246G>T	BC020779	CCDS43724.1	8p21.3	2009-08-13			ENSG00000134020	ENSG00000134020			28319	protein-coding gene	gene with protein product	"""cousin-of-RKIP 1 protein"""	612473				15302887, 16865237	Standard	NM_144962		Approved	MGC22776, CORK1, hPEBP4	uc003xcn.1	Q96S96	OTTHUMG00000163749	ENST00000256404.6:c.261C>A	8.37:g.22675246G>T							p.G87G	NM_144962	NP_659399	Q96S96	PEBP4_HUMAN		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)	4	353	-		Prostate(55;0.0453)|Breast(100;0.103)	87					Q5EVA1|Q8WW74	Silent	SNP	ENST00000256404.6	37	c.261C>A	CCDS43724.1																																																																																				0.493	PEBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375141.2	NM_144962		29	56	1	0	5.46e-16	1.07e-15	29	56				
EBF2	64641	broad.mit.edu	37	8	25715905	25715905	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:25715905G>T	ENST00000520164.1	-	14	1995	c.1458C>A	c.(1456-1458)ccC>ccA	p.P486P	EBF2_ENST00000408929.3_Silent_p.P338P|EBF2_ENST00000535548.1_Silent_p.P217P	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	486	Pro/Ser/Thr-rich.				adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGGCCATGGGGACATTGC	0.522																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1		NA																	0				ovary(3)|skin(1)	4						c.(1456-1458)CCC>CCA		early B-cell factor 2							141.0	144.0	143.0					8																	25715905		2010	4178	6188	SO:0001819	synonymous_variant	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25715905G>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.1458C>A	8.37:g.25715905G>T						PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA	p.P486P	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	14	1475	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	486			Pro/Ser/Thr-rich.		A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Silent	SNP	ENST00000520164.1	37	c.1458C>A	CCDS43726.1																																																																																				0.522	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		32	59	1	0	2.85e-18	5.71e-18	32	59				
PTK2B	2185	broad.mit.edu	37	8	27295006	27295006	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:27295006A>G	ENST00000397501.1	+	22	2328	c.1520A>G	c.(1519-1521)tAt>tGt	p.Y507C	PTK2B_ENST00000338238.4_Missense_Mutation_p.Y507C|PTK2B_ENST00000420218.2_Missense_Mutation_p.Y507C|PTK2B_ENST00000346049.5_Missense_Mutation_p.Y507C|PTK2B_ENST00000517339.1_Missense_Mutation_p.Y507C|PTK2B_ENST00000544172.1_Missense_Mutation_p.Y507C|PTK2B_ENST00000397497.4_Missense_Mutation_p.Y253C	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	507	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	TTGTATCCCTATGGGGAGGTG	0.552																																						uc003xfn.1		NA																	0				lung(3)|ovary(1)|skin(1)	5						c.(1519-1521)TAT>TGT		PTK2B protein tyrosine kinase 2 beta isoform a							67.0	57.0	60.0					8																	27295006		2203	4300	6503	SO:0001583	missense	2185				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	g.chr8:27295006A>G	U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.1520A>G	8.37:g.27295006A>G	ENSP00000380638:p.Tyr507Cys					PTK2B_uc003xfo.1_Missense_Mutation_p.Y507C|PTK2B_uc003xfp.1_Missense_Mutation_p.Y507C|PTK2B_uc003xfq.1_Missense_Mutation_p.Y507C|PTK2B_uc003xfr.1_Missense_Mutation_p.Y253C	p.Y507C	NM_173174	NP_775266	Q14289	FAK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	22	2328	+		Ovarian(32;2.72e-05)	507			Protein kinase.		D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	c.1520A>G	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973675	0.53720	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	T;T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04;0.04	5.82	0.244	0.15507	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.343994	0.35555	N	0.003123	T	0.61751	0.2372	L	0.33093	0.98	0.32380	N	0.554628	D;P;B	0.56968	0.978;0.865;0.409	P;P;B	0.59487	0.858;0.72;0.329	T	0.68284	-0.5449	10	0.66056	D	0.02	.	10.2223	0.43205	0.4873:0.0:0.0:0.5127	.	253;507;507	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	C	507;512;507;507;507;507;507;253	ENSP00000380638:Y507C;ENSP00000342242:Y507C;ENSP00000440926:Y507C;ENSP00000332816:Y507C;ENSP00000391995:Y507C;ENSP00000427931:Y507C;ENSP00000380634:Y253C	ENSP00000342242:Y507C	Y	+	2	0	PTK2B	27350923	0.802000	0.28943	0.005000	0.12908	0.777000	0.43975	2.660000	0.46749	0.093000	0.17368	0.459000	0.35465	TAT		0.552	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1	NM_004103		12	29	0	0	0	0	12	29				
UNC5D	137970	broad.mit.edu	37	8	35406972	35406972	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:35406972G>T	ENST00000404895.2	+	2	594	c.266G>T	c.(265-267)gGc>gTc	p.G89V	UNC5D_ENST00000453357.2_Missense_Mutation_p.G84V|UNC5D_ENST00000287272.2_Missense_Mutation_p.G89V|UNC5D_ENST00000416672.1_Missense_Mutation_p.G89V|UNC5D_ENST00000420357.1_Missense_Mutation_p.G89V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	89	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAATGCAACGGCGAGTGGGTC	0.507																																						uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(265-267)GGC>GTC		unc-5 homolog D precursor							58.0	52.0	54.0					8																	35406972		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406972G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.266G>T	8.37:g.35406972G>T	ENSP00000385143:p.Gly89Val					UNC5D_uc003xjs.1_Missense_Mutation_p.G84V	p.G89V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	594	+			89			Extracellular (Potential).|Ig-like.		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.266G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	28.4	4.917763	0.92249	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43	6.06	6.06	0.98353	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.79885	0.4523	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.82329	-0.0511	10	0.87932	D	0	-23.4883	20.6397	0.99537	0.0:0.0:1.0:0.0	.	84;89	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	V	89;89;89;89;84	ENSP00000385143:G89V;ENSP00000392739:G89V;ENSP00000287272:G89V;ENSP00000412652:G89V;ENSP00000394303:G84V	ENSP00000287272:G89V	G	+	2	0	UNC5D	35526514	1.000000	0.71417	0.998000	0.56505	0.853000	0.48598	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	GGC		0.507	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			17	29	1	0	5.01e-05	7.78e-05	17	29				
EIF4EBP1	1978	broad.mit.edu	37	8	37914654	37914654	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:37914654G>T	ENST00000338825.4	+	2	434	c.201G>T	c.(199-201)gtG>gtT	p.V67V	EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1	67					cellular protein metabolic process (GO:0044267)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translational initiation (GO:0045947)|positive regulation of mitotic cell cycle (GO:0045931)|response to ethanol (GO:0045471)|response to ischemia (GO:0002931)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	translation repressor activity (GO:0030371)	p.V67V(1)		endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				ACTCACCTGTGACCAAAACAC	0.572																																					Melanoma(144;549 1821 15133 20335 46806)	uc003xks.2		NA																	1	Substitution - coding silent(1)		endometrium(1)		0						c.(199-201)GTG>GTT		eukaryotic translation initiation factor 4E							81.0	78.0	79.0					8																	37914654		2203	4300	6503	SO:0001819	synonymous_variant	1978				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|positive regulation of mitotic cell cycle|TOR signaling cascade|translation	cytosol		g.chr8:37914654G>T		CCDS6100.1	8p12	2008-10-08			ENSG00000187840	ENSG00000187840			3288	protein-coding gene	gene with protein product	"""phosphorylated heat- and acid-stable protein regulated by insulin 1"""	602223				7935836	Standard	NM_004095		Approved	PHAS-I, 4E-BP1	uc003xks.3	Q13541	OTTHUMG00000164012	ENST00000338825.4:c.201G>T	8.37:g.37914654G>T							p.V67V	NM_004095	NP_004086	Q13541	4EBP1_HUMAN			2	273	+	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	67					B2R502|D3DSW8|Q6IBN3	Silent	SNP	ENST00000338825.4	37	c.201G>T	CCDS6100.1																																																																																				0.572	EIF4EBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376743.1	NM_004095		21	81	1	0	2.71e-06	4.39e-06	21	81				
TM2D2	83877	broad.mit.edu	37	8	38853858	38853858	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:38853858T>C	ENST00000456397.2	-	1	194	c.101A>G	c.(100-102)cAc>cGc	p.H34R	TM2D2_ENST00000412303.1_Intron|TM2D2_ENST00000397070.2_5'UTR|ADAM9_ENST00000466936.1_5'Flank|ADAM9_ENST00000487273.2_5'Flank|TM2D2_ENST00000522434.1_Intron|TM2D2_ENST00000456845.2_Intron|ADAM9_ENST00000481513.1_5'Flank	NM_078473.2	NP_510882.1	Q9BX73	TM2D2_HUMAN	TM2 domain containing 2	34						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ATTTTGCGAGTGGCTCCGAGA	0.627																																						uc003xmk.2		NA																	0					0						c.(100-102)CAC>CGC		TM2 domain containing 2 isoform a							78.0	84.0	82.0					8																	38853858		2203	4300	6503	SO:0001583	missense	83877					integral to membrane		g.chr8:38853858T>C	AF353991	CCDS6111.1, CCDS43733.1	8p11.23	2005-08-09				ENSG00000169490			24127	protein-coding gene	gene with protein product		610081				11278849	Standard	XM_005273657		Approved	BLP1	uc003xmk.3	Q9BX73		ENST00000456397.2:c.101A>G	8.37:g.38853858T>C	ENSP00000416050:p.His34Arg					ADAM9_uc011lcf.1_5'Flank|ADAM9_uc003xmr.2_5'Flank|ADAM9_uc011lcg.1_5'Flank|ADAM9_uc010lwr.2_5'Flank|TM2D2_uc003xml.2_5'UTR|TM2D2_uc003xmm.2_Intron|TM2D2_uc003xmn.2_Intron|ADAM9_uc003xmo.1_5'Flank|ADAM9_uc003xmp.2_5'Flank	p.H34R	NM_078473	NP_510882	Q9BX73	TM2D2_HUMAN	LUSC - Lung squamous cell carcinoma(45;1.5e-07)		1	184	-		all_lung(54;0.00338)|Lung NSC(58;0.0133)|Hepatocellular(245;0.0153)	34					B2RBK4|D3DSX8|Q8N0X9	Missense_Mutation	SNP	ENST00000456397.2	37	c.101A>G	CCDS6111.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654663	0.47467	.	.	ENSG00000169490	ENST00000456397	.	.	.	5.78	4.51	0.55191	.	0.260949	0.43747	D	0.000524	T	0.42988	0.1227	L	0.27053	0.805	0.40495	D	0.980588	B	0.24186	0.099	B	0.22601	0.04	T	0.34800	-0.9814	9	0.25751	T	0.34	-16.2674	12.8461	0.57831	0.1607:0.0:0.0:0.8392	.	34	Q9BX73	TM2D2_HUMAN	R	34	.	ENSP00000416050:H34R	H	-	2	0	TM2D2	38973015	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.433000	0.52834	2.210000	0.71456	0.533000	0.62120	CAC		0.627	TM2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377280.1	NM_031940		40	82	0	0	0	0	40	82				
PRKDC	5591	broad.mit.edu	37	8	48746771	48746771	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:48746771T>C	ENST00000314191.2	-	60	8191	c.8135A>G	c.(8134-8136)gAt>gGt	p.D2712G	PRKDC_ENST00000338368.3_Missense_Mutation_p.D2712G|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2713	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CACTTTGTTATCCACCTCGTC	0.488								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(8137-8139)GAT>GGT	NHEJ	protein kinase, DNA-activated, catalytic							232.0	232.0	232.0					8																	48746771		1955	4160	6115	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48746771T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.8135A>G	8.37:g.48746771T>C	ENSP00000313420:p.Asp2712Gly					PRKDC_uc003xqj.2_Missense_Mutation_p.D2713G|PRKDC_uc011ldh.1_Intron	p.D2713G	NM_006904	NP_008835	P78527	PRKDC_HUMAN			60	8195	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2713			KIP-binding.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.8138A>G		.	.	.	.	.	.	.	.	.	.	T	16.27	3.076969	0.55753	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02631	4.29;4.22	5.27	5.27	0.74061	.	0.075169	0.51477	D	0.000099	T	0.06917	0.0176	M	0.78916	2.43	0.54753	D	0.999984	B;B	0.14012	0.009;0.009	B;B	0.11329	0.006;0.006	T	0.03933	-1.0991	10	0.66056	D	0.02	.	15.1814	0.72962	0.0:0.0:0.0:1.0	.	2712;2713	E7EUY0;P78527	.;PRKDC_HUMAN	G	2712	ENSP00000313420:D2712G;ENSP00000345182:D2712G	ENSP00000313420:D2712G	D	-	2	0	PRKDC	48909324	1.000000	0.71417	0.958000	0.39756	0.967000	0.64934	6.878000	0.75567	1.985000	0.57927	0.460000	0.39030	GAT		0.488	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		115	238	0	0	0	0	115	238				
PXDNL	137902	broad.mit.edu	37	8	52384809	52384809	+	Silent	SNP	G	G	T	rs372855537		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:52384809G>T	ENST00000356297.4	-	8	850	c.750C>A	c.(748-750)acC>acA	p.T250T	PXDNL_ENST00000543296.1_Silent_p.T250T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	250	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGAAGTAGACGGTATTTCCTG	0.428																																						uc003xqu.3		NA																	0				ovary(1)|pancreas(1)	2						c.(748-750)ACC>ACA		peroxidasin homolog-like precursor							164.0	157.0	159.0					8																	52384809		1878	4096	5974	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384809G>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.750C>A	8.37:g.52384809G>T							p.T250T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			8	851	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	250			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.750C>A	CCDS47855.1																																																																																				0.428	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		35	93	1	0	1.67e-13	3.15e-13	35	93				
RP1	6101	broad.mit.edu	37	8	55537480	55537480	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:55537480C>T	ENST00000220676.1	+	4	1186	c.1038C>T	c.(1036-1038)acC>acT	p.T346T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	346					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGAAGAAACCATAAAATGGA	0.343																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(1036-1038)ACC>ACT		retinitis pigmentosa RP1 protein							65.0	63.0	64.0					8																	55537480		2203	4300	6503	SO:0001819	synonymous_variant	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537480C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1038C>T	8.37:g.55537480C>T						RP1_uc011ldy.1_Intron	p.T346T	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1186	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	346						Silent	SNP	ENST00000220676.1	37	c.1038C>T	CCDS6160.1																																																																																				0.343	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		9	20	0	0	0	0	9	20				
XKR4	114786	broad.mit.edu	37	8	56436507	56436507	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:56436507C>A	ENST00000327381.6	+	3	1774	c.1674C>A	c.(1672-1674)gaC>gaA	p.D558E	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	558						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TTGTCAGCGACCGCGATCAGA	0.592																																						uc003xsf.2		NA																	0				pancreas(2)	2						c.(1672-1674)GAC>GAA		XK, Kell blood group complex subunit-related							67.0	70.0	69.0					8																	56436507		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436507C>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1674C>A	8.37:g.56436507C>A	ENSP00000328326:p.Asp558Glu						p.D558E	NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1706	+			558					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1674C>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.184213	0.00305	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.81415	-1.49	5.95	-1.3	0.09259	.	0.453459	0.26616	N	0.023398	T	0.57829	0.2080	N	0.19112	0.55	0.22648	N	0.998896	B	0.02656	0.0	B	0.04013	0.001	T	0.46775	-0.9167	10	0.02654	T	1	-4.3001	9.1362	0.36875	0.0823:0.3853:0.4397:0.0927	.	558	Q5GH76	XKR4_HUMAN	E	558	ENSP00000328326:D558E	ENSP00000328326:D558E	D	+	3	2	XKR4	56599061	0.472000	0.25870	0.863000	0.33907	0.006000	0.05464	-0.243000	0.08915	-0.389000	0.07786	-2.558000	0.00175	GAC		0.592	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		19	56	1	0	5.35e-07	8.9e-07	19	56				
ASPH	444	broad.mit.edu	37	8	62566183	62566183	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:62566183G>A	ENST00000379454.4	-	4	546	c.359C>T	c.(358-360)cCg>cTg	p.P120L	ASPH_ENST00000518068.1_Missense_Mutation_p.P120L|ASPH_ENST00000522835.1_Missense_Mutation_p.P106L|ASPH_ENST00000356457.5_Missense_Mutation_p.P120L|ASPH_ENST00000517847.2_Missense_Mutation_p.P106L|ASPH_ENST00000445642.3_Missense_Mutation_p.P106L|ASPH_ENST00000517903.1_Missense_Mutation_p.P106L|ASPH_ENST00000541428.1_Missense_Mutation_p.P91L	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	120	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CTCTTCTGGCGGGACTGCTGG	0.502																																						uc003xuj.2		NA																	0				ovary(3)	3						c.(358-360)CCG>CTG		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						99.0	82.0	88.0					8																	62566183		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62566183G>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.359C>T	8.37:g.62566183G>A	ENSP00000368767:p.Pro120Leu					ASPH_uc011leg.1_Missense_Mutation_p.P91L|ASPH_uc003xuo.2_Missense_Mutation_p.P120L|ASPH_uc011leh.1_Missense_Mutation_p.P106L|ASPH_uc003xul.2_Missense_Mutation_p.P106L|ASPH_uc011lei.1_Missense_Mutation_p.P106L|ASPH_uc011lej.1_Missense_Mutation_p.P106L|ASPH_uc003xun.2_Missense_Mutation_p.P120L|ASPH_uc011lek.1_Missense_Mutation_p.P120L|ASPH_uc003xum.2_Missense_Mutation_p.P120L	p.P120L	NM_004318	NP_004309	Q12797	ASPH_HUMAN			4	628	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	120			Glu-rich.|Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.359C>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338253	0.41398	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306	T;T;T;T;T;T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22	5.27	2.27	0.28462	Aspartyl beta-hydroxylase/Triadin domain (1);	0.647217	0.16059	N	0.231583	T	0.65811	0.2727	L	0.59436	1.845	0.20403	N	0.999909	B;D;P;P;B;B;D;P;P;B	0.89917	0.039;1.0;0.562;0.746;0.046;0.311;0.998;0.572;0.938;0.056	B;D;B;B;B;B;P;B;P;B	0.75020	0.017;0.985;0.166;0.379;0.009;0.06;0.883;0.039;0.627;0.016	T	0.52881	-0.8516	10	0.72032	D	0.01	-3.6619	4.1995	0.10458	0.2092:0.1943:0.5965:0.0	.	120;106;106;106;91;120;120;120;106;120	B8Y0L3;B4DIC9;B7ZM95;B7ZM96;F5H667;F8W7A9;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;.;.;.;ASPH_HUMAN	L	120;91;120;120;135;120;106;106;106;106;91	ENSP00000437864:P91L;ENSP00000368767:P120L;ENSP00000348841:P120L;ENSP00000427823:P135L;ENSP00000429286:P120L;ENSP00000430245:P106L;ENSP00000394013:P106L;ENSP00000429954:P106L;ENSP00000429160:P106L;ENSP00000427877:P91L	ENSP00000348841:P120L	P	-	2	0	ASPH	62728737	0.021000	0.18746	0.005000	0.12908	0.506000	0.33950	1.254000	0.32897	0.793000	0.33875	0.557000	0.71058	CCG		0.502	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		7	30	0	0	0	0	7	30				
MTFR1	9650	broad.mit.edu	37	8	66605983	66605983	+	Silent	SNP	A	A	T	rs548262157		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:66605983A>T	ENST00000262146.4	+	4	396	c.270A>T	c.(268-270)tcA>tcT	p.S90S	MTFR1_ENST00000458689.2_Silent_p.S57S|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	90					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GAGAGTGTTCAGCAAGACTAA	0.408																																						uc003xvm.2		NA																	0				pancreas(1)	1						c.(268-270)TCA>TCT		mitochondrial fission regulator 1 isoform 1							92.0	78.0	83.0					8																	66605983		2203	4300	6503	SO:0001819	synonymous_variant	9650					mitochondrion|plasma membrane		g.chr8:66605983A>T		CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.270A>T	8.37:g.66605983A>T						MTFR1_uc011lep.1_Silent_p.S90S|MTFR1_uc003xvn.2_Silent_p.S57S|MTFR1_uc003xvo.1_Silent_p.S80S	p.S90S	NM_014637	NP_055452	Q15390	MTFR1_HUMAN	Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)		4	482	+			90					E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Silent	SNP	ENST00000262146.4	37	c.270A>T	CCDS6182.1	.	.	.	.	.	.	.	.	.	.	A	1.079	-0.667543	0.03428	.	.	ENSG00000066855	ENST00000518800	.	.	.	5.83	-2.26	0.06867	.	.	.	.	.	T	0.38161	0.1030	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34700	-0.9818	4	.	.	.	-28.9476	0.4895	0.00562	0.3024:0.2635:0.2411:0.193	.	.	.	.	L	48	.	.	Q	+	2	0	MTFR1	66768537	0.962000	0.33011	0.976000	0.42696	0.003000	0.03518	-0.118000	0.10692	-0.086000	0.12550	-1.295000	0.01343	CAG		0.408	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378894.1	NM_014637		16	25	0	0	0	0	16	25				
PREX2	80243	broad.mit.edu	37	8	69002942	69002942	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:69002942C>A	ENST00000288368.4	+	20	2519	c.2242C>A	c.(2242-2244)Cca>Aca	p.P748T	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	748	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTACAGGCGGCCAACGAAGGT	0.483																																						uc003xxv.1		NA																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(2242-2244)CCA>ACA		DEP domain containing 2 isoform a							83.0	70.0	74.0					8																	69002942		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69002942C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2242C>A	8.37:g.69002942C>A	ENSP00000288368:p.Pro748Thr					PREX2_uc003xxu.1_Missense_Mutation_p.P748T|PREX2_uc011lez.1_Missense_Mutation_p.P683T	p.P748T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			20	2269	+			748			PDZ 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2242C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199942	0.79015	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.34667	1.35	5.89	5.89	0.94794	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	N	0.19112	0.55	0.80722	D	1	P;P;P	0.48911	0.917;0.82;0.887	P;P;P	0.51415	0.62;0.468;0.669	T	0.24584	-1.0156	10	0.62326	D	0.03	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	748;748;748	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	T	748	ENSP00000288368:P748T	ENSP00000288368:P748T	P	+	1	0	PREX2	69165496	1.000000	0.71417	0.275000	0.24674	0.940000	0.58332	5.749000	0.68704	2.788000	0.95919	0.585000	0.79938	CCA		0.483	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		11	45	1	0	3.86e-05	6e-05	11	45				
SULF1	23213	broad.mit.edu	37	8	70476335	70476335	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:70476335G>C	ENST00000260128.4	+	5	842	c.125G>C	c.(124-126)cGa>cCa	p.R42P	SULF1_ENST00000402687.4_Missense_Mutation_p.R42P|SULF1_ENST00000419716.3_Missense_Mutation_p.R42P|SULF1_ENST00000458141.2_Missense_Mutation_p.R42P	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	42					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAAACATCCGACCCAACATT	0.483																																						uc010lza.1		NA																	0				central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(124-126)CGA>CCA		sulfatase 1 precursor							174.0	161.0	165.0					8																	70476335		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70476335G>C	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.125G>C	8.37:g.70476335G>C	ENSP00000260128:p.Arg42Pro					SULF1_uc003xyd.2_Missense_Mutation_p.R42P|SULF1_uc003xye.2_Missense_Mutation_p.R42P|SULF1_uc003xyf.2_Missense_Mutation_p.R42P|SULF1_uc003xyg.2_Missense_Mutation_p.R42P	p.R42P	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		5	842	+	Breast(64;0.0654)		42					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.125G>C	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705033	0.88924	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000529134;ENST00000402687;ENST00000419716;ENST00000534179;ENST00000528783;ENST00000525999	D;D;D;D;D;T;D	0.96856	-4.15;-4.15;-3.42;-4.15;-4.15;0.3;-4.15	6.06	6.06	0.98353	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	M	0.76574	2.34	0.80722	D	1	P	0.38300	0.626	B	0.42625	0.393	D	0.96219	0.9159	10	0.62326	D	0.03	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	42	Q8IWU6	SULF1_HUMAN	P	42	ENSP00000403040:R42P;ENSP00000260128:R42P;ENSP00000432178:R42P;ENSP00000385704:R42P;ENSP00000390315:R42P;ENSP00000436949:R42P;ENSP00000431753:R42P	ENSP00000260128:R42P	R	+	2	0	SULF1	70638889	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.760000	0.91671	2.879000	0.98667	0.650000	0.86243	CGA		0.483	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		28	70	0	0	0	0	28	70				
CRISPLD1	83690	broad.mit.edu	37	8	75929588	75929588	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:75929588G>C	ENST00000262207.4	+	10	1498	c.1030G>C	c.(1030-1032)Ggt>Cgt	p.G344R	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G156R|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G158R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	344	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)		p.G344S(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			AATTCATTATGGTATAATAGA	0.343																																						uc003yan.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1030-1032)GGT>CGT		cysteine-rich secretory protein LCCL domain							113.0	122.0	119.0					8																	75929588		2203	4298	6501	SO:0001583	missense	83690					extracellular region		g.chr8:75929588G>C	AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1030G>C	8.37:g.75929588G>C	ENSP00000262207:p.Gly344Arg					CRISPLD1_uc011lfk.1_Missense_Mutation_p.G156R|CRISPLD1_uc011lfl.1_Missense_Mutation_p.G156R	p.G344R	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)		10	1405	+	Breast(64;0.0799)		344			LCCL 1.		B2RA60|B7Z929	Missense_Mutation	SNP	ENST00000262207.4	37	c.1030G>C	CCDS6219.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666264	0.88251	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.98381	-4.9;-4.9;-4.9	5.42	5.42	0.78866	LCCL (5);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.97516	4.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98427	1.0580	10	0.87932	D	0	.	19.416	0.94700	0.0:0.0:1.0:0.0	.	158;344	B7Z929;Q9H336	.;CRLD1_HUMAN	R	344;156;158	ENSP00000262207:G344R;ENSP00000430105:G156R;ENSP00000429746:G158R	ENSP00000262207:G344R	G	+	1	0	CRISPLD1	76092143	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.387000	0.79785	2.821000	0.97095	0.650000	0.86243	GGT		0.343	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379117.1	NM_031461		44	62	0	0	0	0	44	62				
ZFHX4	79776	broad.mit.edu	37	8	77765155	77765155	+	Missense_Mutation	SNP	C	C	A	rs552117471		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:77765155C>A	ENST00000521891.2	+	10	6446	c.5998C>A	c.(5998-6000)Cca>Aca	p.P2000T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1974T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1955T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1955T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1955	Pro-rich.				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)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCATCTTCTCCAGAAACGcc	0.507										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(5863-5865)CCA>ACA		zinc finger homeodomain 4							39.0	39.0	39.0					8																	77765155		1909	4120	6029	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765155C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5998C>A	8.37:g.77765155C>A	ENSP00000430497:p.Pro2000Thr	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.P2000T|ZFHX4_uc003yaw.1_Missense_Mutation_p.P1955T	p.P1955T	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6250	+			1955			Pro-rich.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.5863C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873014	0.91664	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	4.06	4.06	0.47325	.	0.000000	0.44285	U	0.000480	T	0.68118	0.2966	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.998	T	0.67337	-0.5696	10	0.35671	T	0.21	.	16.8418	0.85971	0.0:1.0:0.0:0.0	.	1955;1955;2000	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	2000;2000;1955;1955;1974	ENSP00000430497:P2000T;ENSP00000399605:P1955T;ENSP00000050961:P1955T;ENSP00000430848:P1974T	ENSP00000050961:P1955T	P	+	1	0	ZFHX4	77927710	1.000000	0.71417	0.301000	0.25044	0.977000	0.68977	7.414000	0.80117	2.295000	0.77249	0.435000	0.28638	CCA		0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	18	1	0	0.000157383	0.000239122	8	18				
ZFHX4	79776	broad.mit.edu	37	8	77775784	77775784	+	Silent	SNP	C	C	A	rs371636479		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:77775784C>A	ENST00000521891.2	+	11	10282	c.9834C>A	c.(9832-9834)ctC>ctA	p.L3278L	ZFHX4_ENST00000518282.1_Silent_p.L3252L|ZFHX4_ENST00000050961.6_Silent_p.L3229L|ZFHX4_ENST00000455469.2_Silent_p.L3233L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3229					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)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCTCAGCTCCCTGGAACAG	0.517										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(9697-9699)CTC>CTA		zinc finger homeodomain 4							113.0	107.0	109.0					8																	77775784		1890	4115	6005	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775784C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9834C>A	8.37:g.77775784C>A		HNSCC(33;0.089)					p.L3233L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10086	+			3229					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.9699C>A	CCDS47878.2																																																																																				0.517	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		35	100	1	0	2.2e-14	4.22e-14	35	100				
ZNF704	619279	broad.mit.edu	37	8	81605276	81605276	+	Silent	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:81605276A>C	ENST00000327835.3	-	3	519	c.288T>G	c.(286-288)acT>acG	p.T96T	ZNF704_ENST00000520336.1_5'UTR	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	96							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCAAAGGGCTAGTCGACAAGC	0.527																																						uc003yby.1		NA																	0					0						c.(286-288)ACT>ACG		zinc finger protein 704							184.0	144.0	157.0					8																	81605276		2203	4300	6503	SO:0001819	synonymous_variant	619279					intracellular	zinc ion binding	g.chr8:81605276A>C	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.288T>G	8.37:g.81605276A>C							p.T96T	NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		3	520	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		96					B2RNE6|B9EGW6	Silent	SNP	ENST00000327835.3	37	c.288T>G	CCDS34913.1																																																																																				0.527	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		15	41	0	0	0	0	15	41				
ATP6V0D2	245972	broad.mit.edu	37	8	87165148	87165148	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:87165148C>A	ENST00000285393.3	+	8	1137	c.995C>A	c.(994-996)gCa>gAa	p.A332E	CTD-3118D11.2_ENST00000524253.1_RNA|CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	332					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrogen ion transmembrane transporter activity (GO:0015078)			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GTGTGGATAGCAGAATGTATT	0.333																																						uc003ydp.1		NA																	0					0						c.(994-996)GCA>GAA		ATPase, H+ transporting, lysosomal 38kDa, V0							130.0	122.0	125.0					8																	87165148		2203	4300	6503	SO:0001583	missense	245972				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding	g.chr8:87165148C>A	AY079172	CCDS6241.1	8q21.3	2014-01-28	2006-01-20	2002-05-24	ENSG00000147614	ENSG00000147614		"""ATPases / V-type"""	18266	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 38kD, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d isoform 2"", ""ATPase, H+ transporting, lysosomal 38kDa, V0 subunit D2"""			12384298	Standard	NM_152565		Approved	FLJ38708, VMA6, ATP6D2	uc003ydp.1	Q8N8Y2	OTTHUMG00000163637	ENST00000285393.3:c.995C>A	8.37:g.87165148C>A	ENSP00000285393:p.Ala332Glu						p.A332E	NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN			8	1064	+			332						Missense_Mutation	SNP	ENST00000285393.3	37	c.995C>A	CCDS6241.1	.	.	.	.	.	.	.	.	.	.	C	34	5.376852	0.95945	.	.	ENSG00000147614	ENST00000285393	T	0.37915	1.17	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.71829	0.3386	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.66847	0.947	T	0.78612	-0.2136	10	0.87932	D	0	-24.0721	19.848	0.96722	0.0:1.0:0.0:0.0	.	332	Q8N8Y2	VA0D2_HUMAN	E	332	ENSP00000285393:A332E	ENSP00000285393:A332E	A	+	2	0	ATP6V0D2	87234264	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	7.743000	0.85020	2.937000	0.99478	0.650000	0.86243	GCA		0.333	ATP6V0D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374651.1	NM_152565		15	40	1	0	1.5e-05	2.37e-05	15	40				
DCAF4L2	138009	broad.mit.edu	37	8	88885723	88885723	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:88885723G>T	ENST00000319675.3	-	1	573	c.477C>A	c.(475-477)ctC>ctA	p.L159L		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	159								p.L159L(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCGACGCTGGGAGCAGCACGG	0.562																																						uc003ydz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(475-477)CTC>CTA		WD repeat domain 21C							100.0	93.0	96.0					8																	88885723		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88885723G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.477C>A	8.37:g.88885723G>T							p.L159L	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	574	-			159						Silent	SNP	ENST00000319675.3	37	c.477C>A	CCDS6245.1																																																																																				0.562	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		26	61	1	0	1.38e-21	2.82e-21	26	61				
NECAB1	64168	broad.mit.edu	37	8	91929810	91929810	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:91929810C>A	ENST00000417640.2	+	6	785	c.448C>A	c.(448-450)Ctg>Atg	p.L150M		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	150						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCAGAATTCCCTGGAATGTGC	0.403																																						uc011lgg.1		NA																	0				central_nervous_system(1)	1						c.(448-450)CTG>ATG		N-terminal EF-hand calcium binding protein 1							108.0	106.0	107.0					8																	91929810		1843	4090	5933	SO:0001583	missense	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91929810C>A	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.448C>A	8.37:g.91929810C>A	ENSP00000387380:p.Leu150Met						p.L150M	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		6	642	+			150			Potential.		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	ENST00000417640.2	37	c.448C>A	CCDS47889.1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435254	0.62955	.	.	ENSG00000123119	ENST00000417640	T	0.26518	1.73	5.31	1.48	0.22813	.	0.074853	0.56097	D	0.000034	T	0.42337	0.1198	M	0.74647	2.275	0.80722	D	1	D	0.65815	0.995	P	0.60886	0.88	T	0.29640	-1.0005	10	0.72032	D	0.01	-3.5401	8.8408	0.35140	0.0:0.6396:0.0:0.3604	.	150	Q8N987	NECA1_HUMAN	M	150	ENSP00000387380:L150M	ENSP00000387380:L150M	L	+	1	2	NECAB1	91998986	0.992000	0.36948	0.594000	0.28785	0.988000	0.76386	1.723000	0.38053	0.240000	0.21263	0.467000	0.42956	CTG		0.403	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		19	33	1	0	0.00152264	0.002239	19	33				
CDH17	1015	broad.mit.edu	37	8	95161033	95161033	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:95161033C>T	ENST00000027335.3	-	14	1990	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	CDH17_ENST00000441892.2_Silent_p.V408V|CDH17_ENST00000450165.2_Silent_p.V622V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	622	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCAATGGAGCCACACTAAAGA	0.418																																						uc003ygh.2		NA																	0				ovary(5)|skin(1)	6						c.(1864-1866)GTG>GTA		cadherin 17 precursor							99.0	83.0	88.0					8																	95161033		2203	4300	6503	SO:0001819	synonymous_variant	1015					integral to membrane	calcium ion binding	g.chr8:95161033C>T	X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1866G>A	8.37:g.95161033C>T						CDH17_uc011lgo.1_Silent_p.V408V|CDH17_uc011lgp.1_Silent_p.V622V	p.V622V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00691)		14	1991	-	Breast(36;4.65e-06)		622			Cadherin 6.|Extracellular (Potential).		Q15336|Q2M2E0	Silent	SNP	ENST00000027335.3	37	c.1866G>A	CCDS6260.1																																																																																				0.418	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1	NM_004063		8	19	0	0	0	0	8	19				
KIAA1429	25962	broad.mit.edu	37	8	95543280	95543280	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:95543280C>A	ENST00000297591.5	-	6	593	c.518G>T	c.(517-519)aGc>aTc	p.S173I	KIAA1429_ENST00000421249.2_Missense_Mutation_p.S173I|RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S173I	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	173	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTTGGAGGGCTTCCATTAAA	0.463																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(517-519)AGC>ATC		hypothetical protein LOC25962 isoform 1							156.0	142.0	147.0					8																	95543280		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95543280C>A	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.518G>T	8.37:g.95543280C>A	ENSP00000297591:p.Ser173Ile					KIAA1429_uc003ygp.2_Missense_Mutation_p.S173I	p.S173I	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		6	531	-	Breast(36;3.29e-05)		173			Pro-rich.		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.518G>T	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.953774	0.92660	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.49720	0.77;0.78;0.77	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	L	0.44542	1.39	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.991	T	0.65857	-0.6066	10	0.72032	D	0.01	-9.1966	18.8146	0.92072	0.0:1.0:0.0:0.0	.	173;173	Q69YN4-4;Q69YN4	.;VIR_HUMAN	I	173	ENSP00000297591:S173I;ENSP00000395600:S173I;ENSP00000398390:S173I	ENSP00000297591:S173I	S	-	2	0	KIAA1429	95612456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.944000	0.75940	2.435000	0.82474	0.585000	0.79938	AGC		0.463	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		11	46	1	0	1.09e-07	1.83e-07	11	46				
MTDH	92140	broad.mit.edu	37	8	98731417	98731417	+	Splice_Site	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:98731417G>T	ENST00000336273.3	+	10	1849	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H	MTDH_ENST00000519934.1_Splice_Site_p.Q451H	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	507					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAAATAGCCAGGTAATTTTTA	0.458																																						uc003yhz.2		NA																	0				liver(1)|central_nervous_system(1)	2						c.(1519-1521)CAG>CAT		metadherin							58.0	63.0	61.0					8																	98731417		2203	4300	6503	SO:0001630	splice_region_variant	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98731417G>T	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.1521+1G>T	8.37:g.98731417G>T						MTDH_uc010mbf.2_RNA	p.Q507H	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		10	1849	+	Breast(36;2.56e-06)		507			Cytoplasmic (Potential).		Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.1521G>T	CCDS6274.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663970	0.47572	.	.	ENSG00000147649	ENST00000336273;ENST00000519934	T;T	0.49139	0.8;0.79	5.22	5.22	0.72569	.	0.451776	0.24024	N	0.042254	T	0.58864	0.2152	L	0.40543	1.245	0.41327	D	0.98721	D	0.64830	0.994	D	0.78314	0.991	T	0.55016	-0.8206	10	0.39692	T	0.17	-8.4419	14.1323	0.65263	0.0:0.0:1.0:0.0	.	507	Q86UE4	LYRIC_HUMAN	H	507;451	ENSP00000338235:Q507H;ENSP00000428168:Q451H	ENSP00000338235:Q507H	Q	+	3	2	MTDH	98800593	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	3.252000	0.51461	2.702000	0.92279	0.591000	0.81541	CAG		0.458	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2		Missense_Mutation	24	54	1	0	1.55e-18	3.12e-18	24	54				
GRHL2	79977	broad.mit.edu	37	8	102656368	102656369	+	Missense_Mutation	DNP	CC	CC	GT			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:102656368_102656369CC>GT	ENST00000251808.3	+	13	1865_1866	c.1527_1528CC>GT	c.(1525-1530)gtCCtt>gtGTtt	p.L510F	GRHL2_ENST00000395927.1_Missense_Mutation_p.L494F|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	510					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GTGGCAGTGTCCTTGTTAAACG	0.465																																						uc010mbu.2		NA																	0				ovary(2)|skin(1)	3						c.(1525-1530)GTCCTT>GTGTTT		transcription factor CP2-like 3																																				SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102656368_102656369CC>GT	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	Exception_encountered	8.37:g.102656368_102656369delinsGT	ENSP00000251808:p.Leu510Phe						p.L510F	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		13	1857_1858	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		510					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	DNP	ENST00000251808.3	37	c.1527_1528CC>GT	CCDS34931.1																																																																																				0.465	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		8	25	0	0	0	0	8	25				
ATP6V1C1	528	broad.mit.edu	37	8	104068161	104068161	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:104068161G>A	ENST00000395862.3	+	8	797	c.638G>A	c.(637-639)aGc>aAc	p.S213N	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.S138N|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.S213N|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.S138N	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	213					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CCAAGGTCTAGCAAGTAAGTA	0.373																																						uc003ykz.3		NA																	0					0						c.(637-639)AGC>AAC		ATPase, H+ transporting, lysosomal V1 subunit							110.0	93.0	98.0					8																	104068161		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104068161G>A	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.638G>A	8.37:g.104068161G>A	ENSP00000379203:p.Ser213Asn					ATP6V1C1_uc010mbz.2_Missense_Mutation_p.S138N|ATP6V1C1_uc003yla.2_Missense_Mutation_p.S213N|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.S138N	p.S213N	NM_001695	NP_001686	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		8	883	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		213						Missense_Mutation	SNP	ENST00000395862.3	37	c.638G>A	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571258	0.86542	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.48	5.48	0.80851	.	0.080914	0.85682	D	0.000000	T	0.73814	0.3635	M	0.88105	2.93	0.58432	D	0.999999	D	0.54397	0.966	D	0.64687	0.928	T	0.76432	-0.2961	10	0.49607	T	0.09	.	19.7139	0.96107	0.0:0.0:1.0:0.0	.	213	P21283	VATC1_HUMAN	N	138;213;138;213	ENSP00000428204:S138N;ENSP00000379203:S213N;ENSP00000430129:S138N;ENSP00000430282:S213N	ENSP00000379203:S213N	S	+	2	0	ATP6V1C1	104137337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.014000	0.76380	2.722000	0.93159	0.655000	0.94253	AGC		0.373	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		9	30	0	0	0	0	9	30				
RIMS2	9699	broad.mit.edu	37	8	104898151	104898151	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:104898151C>G	ENST00000436393.2	+	2	899	c.658C>G	c.(658-660)Ccc>Gcc	p.P220A	RIMS2_ENST00000262231.10_Missense_Mutation_p.P250A|RIMS2_ENST00000406091.3_Missense_Mutation_p.P442A|RIMS2_ENST00000507740.1_Missense_Mutation_p.P250A			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	473					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAGTCCACTACCCATAGATAG	0.463										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(658-660)CCC>GCC		regulating synaptic membrane exocytosis 2							93.0	87.0	89.0					8																	104898151		1925	4140	6065	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104898151C>G	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.658C>G	8.37:g.104898151C>G	ENSP00000390665:p.Pro220Ala	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.P442A|RIMS2_uc003ylw.2_Missense_Mutation_p.P250A|RIMS2_uc003ylq.2_Missense_Mutation_p.P250A|RIMS2_uc003ylr.2_Missense_Mutation_p.P250A	p.P220A	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		2	899	+			473					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.658C>G		.	.	.	.	.	.	.	.	.	.	C	16.68	3.190510	0.58017	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.19938	2.11;2.6;2.26;2.35;2.29;2.23;2.63	5.65	5.65	0.86999	.	.	.	.	.	T	0.44393	0.1291	L	0.54323	1.7	0.80722	D	1	P;B;P;D;P	0.76494	0.877;0.397;0.868;0.999;0.955	B;B;P;D;P	0.80764	0.366;0.335;0.57;0.994;0.605	T	0.08827	-1.0703	9	0.42905	T	0.14	.	19.7233	0.96151	0.0:1.0:0.0:0.0	.	473;220;250;250;442	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	A	442;473;442;473;250;250;250;250;220	ENSP00000427018:P442A;ENSP00000384892:P442A;ENSP00000425205:P250A;ENSP00000262231:P250A;ENSP00000423559:P250A;ENSP00000386228:P250A;ENSP00000390665:P220A	ENSP00000262231:P250A	P	+	1	0	RIMS2	104967327	1.000000	0.71417	0.895000	0.35142	0.703000	0.40648	5.412000	0.66392	2.653000	0.90120	0.563000	0.77884	CCC		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		10	44	0	0	0	0	10	44				
RIMS2	9699	broad.mit.edu	37	8	105027684	105027684	+	Splice_Site	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:105027684G>A	ENST00000436393.2	+	18	2828	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCTTATGAAGGTCTGTACAT	0.363										HNSCC(12;0.0054)																												uc003yls.2		NA																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(2587-2589)GAA>AAA		regulating synaptic membrane exocytosis 2							10.0	10.0	10.0					8																	105027684		876	1986	2862	SO:0001630	splice_region_variant	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105027684G>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2587+1G>A	8.37:g.105027684G>A		HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.E937K|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron	p.E863K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		18	2828	+			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2587G>A		.	.	.	.	.	.	.	.	.	.	G	13.88	2.368913	0.42003	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.15834	2.39;2.67	5.33	5.33	0.75918	.	.	.	.	.	T	0.27967	0.0689	.	.	.	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.01262	-1.1402	8	0.06757	T	0.87	.	17.9498	0.89048	0.0:0.0:1.0:0.0	.	863	D6RA03	.	K	937;863	ENSP00000386228:E937K;ENSP00000390665:E863K	ENSP00000386228:E937K	E	+	1	0	RIMS2	105096860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.107000	0.89557	2.648000	0.89879	0.585000	0.79938	GAA		0.363	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	Missense_Mutation	4	5	0	0	0	0	4	5				
KCNV1	27012	broad.mit.edu	37	8	110980754	110980754	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:110980754C>A	ENST00000524391.1	-	4	2098	c.1066G>T	c.(1066-1068)Gga>Tga	p.G356*	KCNV1_ENST00000297404.1_Nonsense_Mutation_p.G356*			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	356					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATAGAGATTCCCACGGATAGA	0.478																																						uc003ynr.3		NA																	0				lung(1)|kidney(1)	2						c.(1066-1068)GGA>TGA		potassium channel, subfamily V, member 1							71.0	68.0	69.0					8																	110980754		2203	4300	6503	SO:0001587	stop_gained	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980754C>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1066G>T	8.37:g.110980754C>A	ENSP00000435954:p.Gly356*					KCNV1_uc010mcw.2_Nonsense_Mutation_p.G356*	p.G356*	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1408	-	all_neural(195;0.219)		356			Helical; Name=Segment S5; (Potential).		Q9UHJ4	Nonsense_Mutation	SNP	ENST00000524391.1	37	c.1066G>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	40	8.403156	0.98796	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6331	0.91368	0.0:1.0:0.0:0.0	.	.	.	.	X	356;356;232	.	ENSP00000297404:G356X	G	-	1	0	KCNV1	111049930	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.814000	0.86154	2.628000	0.89032	0.655000	0.94253	GGA		0.478	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		35	53	1	0	2.81e-11	5.1e-11	35	53				
CSMD3	114788	broad.mit.edu	37	8	113246700	113246700	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:113246700T>C	ENST00000297405.5	-	68	10878	c.10634A>G	c.(10633-10635)tAt>tGt	p.Y3545C	CSMD3_ENST00000455883.2_Missense_Mutation_p.Y3376C|CSMD3_ENST00000343508.3_Missense_Mutation_p.Y3505C|CSMD3_ENST00000352409.3_Missense_Mutation_p.Y3475C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3545						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGGCTTTTATATACCCCTGT	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10633-10635)TAT>TGT		CUB and Sushi multiple domains 3 isoform 1							131.0	128.0	129.0					8																	113246700		2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113246700T>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10634A>G	8.37:g.113246700T>C	ENSP00000297405:p.Tyr3545Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.Y2747C|CSMD3_uc003ynt.2_Missense_Mutation_p.Y3505C|CSMD3_uc011lhx.1_Missense_Mutation_p.Y3376C	p.Y3545C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			68	10793	-			3545			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10634A>G	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	18.01	3.528282	0.64860	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.38887	1.45;1.44;1.54;1.11;1.5	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000007	T	0.63522	0.2518	M	0.72118	2.19	0.49051	D	0.999743	D;D;D	0.89917	0.999;1.0;0.994	D;D;D	0.77557	0.99;0.99;0.916	T	0.68044	-0.5513	10	0.87932	D	0	.	14.9205	0.70835	0.0:0.0:0.0:1.0	.	3376;3545;3505	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	3505;3545;2815;3376;3475	ENSP00000345799:Y3505C;ENSP00000297405:Y3545C;ENSP00000341558:Y2815C;ENSP00000412263:Y3376C;ENSP00000343124:Y3475C	ENSP00000297405:Y3545C	Y	-	2	0	CSMD3	113315876	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.821000	0.69257	2.118000	0.64928	0.459000	0.35465	TAT		0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		36	82	0	0	0	0	36	82				
CSMD3	114788	broad.mit.edu	37	8	113256746	113256746	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:113256746G>T	ENST00000297405.5	-	65	10523	c.10279C>A	c.(10279-10281)Ctt>Att	p.L3427I	CSMD3_ENST00000455883.2_Missense_Mutation_p.L3258I|CSMD3_ENST00000343508.3_Missense_Mutation_p.L3387I|CSMD3_ENST00000352409.3_Missense_Mutation_p.L3357I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3427	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAGATGGAAGGTCCATCCCT	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(10279-10281)CTT>ATT		CUB and Sushi multiple domains 3 isoform 1							133.0	116.0	122.0					8																	113256746		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256746G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10279C>A	8.37:g.113256746G>T	ENSP00000297405:p.Leu3427Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L2629I|CSMD3_uc003ynt.2_Missense_Mutation_p.L3387I|CSMD3_uc011lhx.1_Missense_Mutation_p.L3258I	p.L3427I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			65	10438	-			3427			Extracellular (Potential).|Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10279C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.720965	0.68959	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.17	5.17	0.71159	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000012	T	0.78233	0.4251	M	0.75447	2.3	0.58432	D	0.999992	B;P;D	0.69078	0.197;0.942;0.997	B;P;D	0.76575	0.223;0.866;0.988	T	0.73448	-0.3979	10	0.21014	T	0.42	.	18.8646	0.92287	0.0:0.0:1.0:0.0	.	3258;3427;3387	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	3387;3427;2697;3258;3357	ENSP00000345799:L3387I;ENSP00000297405:L3427I;ENSP00000341558:L2697I;ENSP00000412263:L3258I;ENSP00000343124:L3357I	ENSP00000297405:L3427I	L	-	1	0	CSMD3	113325922	1.000000	0.71417	0.999000	0.59377	0.064000	0.16182	7.565000	0.82337	2.687000	0.91594	0.591000	0.81541	CTT		0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	50	1	0	0.000308642	0.000462515	14	50				
CSMD3	114788	broad.mit.edu	37	8	113418923	113418923	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:113418923G>A	ENST00000297405.5	-	35	5883	c.5639C>T	c.(5638-5640)tCt>tTt	p.S1880F	CSMD3_ENST00000455883.2_Missense_Mutation_p.S1776F|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1840F|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1810F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1880	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1880Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCAGGCACAGAACTGCATTG	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(5638-5640)TCT>TTT		CUB and Sushi multiple domains 3 isoform 1							103.0	96.0	98.0					8																	113418923		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113418923G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.5639C>T	8.37:g.113418923G>A	ENSP00000297405:p.Ser1880Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S1082F|CSMD3_uc003ynt.2_Missense_Mutation_p.S1840F|CSMD3_uc011lhx.1_Missense_Mutation_p.S1776F	p.S1880F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			35	5798	-			1880			Sushi 10.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5639C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706255	0.89018	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85	4.64	4.64	0.57946	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.64402	D	0.000002	T	0.53850	0.1822	M	0.76938	2.355	0.58432	D	0.999992	D;P;D	0.76494	0.973;0.916;0.999	P;P;D	0.97110	0.726;0.74;1.0	T	0.58702	-0.7590	10	0.62326	D	0.03	.	18.0718	0.89410	0.0:0.0:1.0:0.0	.	1776;1880;1840	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	1840;1880;1150;1776;1810	ENSP00000345799:S1840F;ENSP00000297405:S1880F;ENSP00000341558:S1150F;ENSP00000412263:S1776F;ENSP00000343124:S1810F	ENSP00000297405:S1880F	S	-	2	0	CSMD3	113488099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.601000	0.98297	2.574000	0.86865	0.655000	0.94253	TCT		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		22	48	0	0	0	0	22	48				
ADCY8	114	broad.mit.edu	37	8	131861992	131861992	+	Silent	SNP	G	G	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:131861992G>C	ENST00000286355.5	-	10	4360	c.2268C>G	c.(2266-2268)gtC>gtG	p.V756V	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	756					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 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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGTGATGAGGACCAGAGCCG	0.473										HNSCC(32;0.087)																												uc003ytd.3		NA																	0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2266-2268)GTC>GTG		adenylate cyclase 8							133.0	105.0	114.0					8																	131861992		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131861992G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2268C>G	8.37:g.131861992G>C		HNSCC(32;0.087)				ADCY8_uc010mds.2_Intron	p.V756V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		10	2524	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		756			Helical; (Potential).			Silent	SNP	ENST00000286355.5	37	c.2268C>G	CCDS6363.1																																																																																				0.473	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			3	11	0	0	0	0	3	11				
PHF20L1	51105	broad.mit.edu	37	8	133816972	133816972	+	Silent	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:133816972T>G	ENST00000395386.2	+	8	1133	c.834T>G	c.(832-834)ctT>ctG	p.L278L	PHF20L1_ENST00000395390.2_Silent_p.L253L|PHF20L1_ENST00000395379.1_Silent_p.L278L|PHF20L1_ENST00000395376.1_Silent_p.L283L|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Silent_p.L252L	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	278							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)			GAGCTCGACTTAACAAGATTA	0.343																																						uc003ytt.2		NA																	0				ovary(2)	2						c.(832-834)CTT>CTG		PHD finger protein 20-like 1 isoform 1							101.0	99.0	100.0					8																	133816972		2203	4300	6503	SO:0001819	synonymous_variant	51105						nucleic acid binding|zinc ion binding	g.chr8:133816972T>G	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.834T>G	8.37:g.133816972T>G						PHF20L1_uc003ytr.2_Silent_p.L252L|PHF20L1_uc010mdv.2_Silent_p.L252L|PHF20L1_uc003yts.2_Silent_p.L278L|PHF20L1_uc011lja.1_Silent_p.L252L|PHF20L1_uc003ytu.1_RNA|PHF20L1_uc003ytv.2_Silent_p.L117L	p.L278L	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		8	1159	+	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)		278					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Silent	SNP	ENST00000395386.2	37	c.834T>G	CCDS6367.2																																																																																				0.343	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		20	52	0	0	0	0	20	52				
TG	7038	broad.mit.edu	37	8	133899673	133899673	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:133899673G>T	ENST00000220616.4	+	9	2096	c.2056G>T	c.(2056-2058)Gct>Tct	p.A686S	TG_ENST00000377869.1_Missense_Mutation_p.A686S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	686	Thyroglobulin type-1 6. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTTGTCCCTGCTTGTACTAG	0.557																																						uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(2056-2058)GCT>TCT		thyroglobulin precursor							68.0	64.0	65.0					8																	133899673		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899673G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.2056G>T	8.37:g.133899673G>T	ENSP00000220616:p.Ala686Ser						p.A686S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	2097	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	686			Thyroglobulin type-1 6.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.2056G>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	3.661	-0.069461	0.07228	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.62941	-0.01;-0.01	5.74	-1.26	0.09376	Thyroglobulin type-1 (6);	0.386077	0.25344	N	0.031357	T	0.25644	0.0624	N	0.02286	-0.61	0.09310	N	0.999996	B	0.12013	0.005	B	0.14023	0.01	T	0.35475	-0.9787	10	0.02654	T	1	.	8.4249	0.32723	0.2172:0.0:0.507:0.2758	.	686	P01266	THYG_HUMAN	S	686	ENSP00000367100:A686S;ENSP00000220616:A686S	ENSP00000220616:A686S	A	+	1	0	TG	133968855	0.138000	0.22547	0.993000	0.49108	0.976000	0.68499	0.435000	0.21510	-0.122000	0.11766	0.655000	0.94253	GCT		0.557	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		21	46	1	0	1.02e-10	1.84e-10	21	46				
SLA	6503	broad.mit.edu	37	8	134050883	134050883	+	Silent	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:134050883C>A	ENST00000338087.5	-	9	1536	c.717G>T	c.(715-717)ctG>ctT	p.L239L	SLA_ENST00000427060.2_Silent_p.L279L|TG_ENST00000542445.1_Intron|SLA_ENST00000517648.1_Silent_p.L212L|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Silent_p.L256L|TG_ENST00000220616.4_Intron|SLA_ENST00000524345.1_Silent_p.L131L	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	239	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			CCTCACTGGTCAGGGACAGGT	0.522																																						uc003ytz.2		NA																	0				lung(1)|liver(1)	2						c.(715-717)CTG>CTT		Src-like-adaptor isoform a							182.0	156.0	165.0					8																	134050883		2203	4300	6503	SO:0001819	synonymous_variant	6503					endosome	SH3/SH2 adaptor activity	g.chr8:134050883C>A		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.717G>T	8.37:g.134050883C>A						TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.L256L|SLA_uc011ljf.1_Silent_p.L131L|SLA_uc011ljg.1_Silent_p.L212L|SLA_uc011ljd.1_Silent_p.L279L	p.L239L	NM_001045556	NP_001039021	Q13239	SLAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)		9	1549	-	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	239	LSL->QSQ: Abolishes interaction with CBL. Slightly affects dimerization.		SLA C-terminal.		B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Silent	SNP	ENST00000338087.5	37	c.717G>T	CCDS6370.1																																																																																				0.522	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378771.1			37	75	1	0	8.74e-17	1.72e-16	37	75				
CPSF1	29894	broad.mit.edu	37	8	145626066	145626066	+	Splice_Site	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:145626066C>T	ENST00000349769.3	-	7	779	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	229					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGGGCTCACCCAGGCCAGGTC	0.637																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	0				skin(1)	1						c.(685-687)GGG>AGG		cleavage and polyadenylation specific factor 1,							60.0	51.0	54.0					8																	145626066		2202	4299	6501	SO:0001630	splice_region_variant	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145626066C>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.686+1G>A	8.37:g.145626066C>T						CPSF1_uc003zck.1_Missense_Mutation_p.G151R|CPSF1_uc011lle.1_Missense_Mutation_p.G229R|MIR1234_hsa-mir-1234|MI0006324_5'Flank|CPSF1_uc011llf.1_Missense_Mutation_p.G229R	p.G229R	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		7	760	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		229					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.685G>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157902	0.78114	.	.	ENSG00000071894	ENST00000349769	T	0.25912	1.77	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.64466	-0.6401	10	0.87932	D	0	-13.0478	17.2687	0.87095	0.0:1.0:0.0:0.0	.	229;151;229	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	R	229	ENSP00000339353:G229R	ENSP00000339353:G229R	G	-	1	0	CPSF1	145596874	0.998000	0.40836	0.963000	0.40424	0.461000	0.32589	3.726000	0.54977	2.686000	0.91538	0.650000	0.86243	GGG		0.637	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291	Missense_Mutation	8	19	0	0	0	0	8	19				
RIC1	57589	broad.mit.edu	37	9	5757415	5757415	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:5757415T>C	ENST00000414202.2	+	17	2147	c.1956T>C	c.(1954-1956)agT>agC	p.S652S	KIAA1432_ENST00000251879.6_Silent_p.S652S|KIAA1432_ENST00000449720.2_Silent_p.S536S|KIAA1432_ENST00000381532.2_Silent_p.S573S|KIAA1432_ENST00000418622.3_Silent_p.S573S	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CATCAGTGAGTACAGAGAATG	0.413																																						uc003zji.2		NA																	0					0						c.(1717-1719)AGT>AGC		connexin 43-interacting protein 150 isoform a							220.0	196.0	204.0					9																	5757415		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5757415T>C																												ENST00000414202.2:c.1956T>C	9.37:g.5757415T>C						KIAA1432_uc003zjh.2_Silent_p.S573S|KIAA1432_uc003zjl.3_Silent_p.S536S|KIAA1432_uc003zjj.1_Silent_p.S115S	p.S573S	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	16	1812	+		Acute lymphoblastic leukemia(23;0.154)	652						Silent	SNP	ENST00000414202.2	37	c.1719T>C	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440821	0.25900	.	.	ENSG00000107036	ENST00000545641	.	.	.	6.07	-0.79	0.10932	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23797	-1.0178	4	.	.	.	-17.4679	1.7948	0.03059	0.2827:0.3624:0.0991:0.2558	.	.	.	.	H	544	.	.	Y	+	1	0	KIAA1432	5747415	0.997000	0.39634	0.998000	0.56505	0.995000	0.86356	0.452000	0.21795	-0.033000	0.13736	-0.256000	0.11100	TAC		0.413	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			36	102	0	0	0	0	36	102				
KDM4C	23081	broad.mit.edu	37	9	6984211	6984211	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:6984211G>T	ENST00000381309.3	+	10	1726	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	KDM4C_ENST00000535193.1_Missense_Mutation_p.E409D|KDM4C_ENST00000381306.3_Missense_Mutation_p.E387D|KDM4C_ENST00000543771.1_Missense_Mutation_p.E387D|KDM4C_ENST00000442236.2_Missense_Mutation_p.E206D|KDM4C_ENST00000536108.1_Missense_Mutation_p.E206D|KDM4C_ENST00000428870.2_Missense_Mutation_p.E74D	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	387					histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGGCTGATGAGGAAGAGGAAG	0.498																																						uc003zkh.2		NA																	0				ovary(1)	1						c.(1159-1161)GAG>GAT		jumonji domain containing 2C isoform 1							91.0	83.0	86.0					9																	6984211		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6984211G>T	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1161G>T	9.37:g.6984211G>T	ENSP00000370710:p.Glu387Asp					KDM4C_uc010mhu.2_Missense_Mutation_p.E409D|KDM4C_uc011lmi.1_Missense_Mutation_p.E387D|KDM4C_uc011lmj.1_RNA|KDM4C_uc003zkg.2_Missense_Mutation_p.E387D|KDM4C_uc011lmk.1_Missense_Mutation_p.E206D|KDM4C_uc011lml.1_Missense_Mutation_p.E74D	p.E387D	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN			10	1741	+			387					B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.1161G>T	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	7.677	0.688240	0.14973	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108;ENST00000428870	T;T;T;T;T;T;T	0.19532	2.27;2.28;2.46;2.36;2.65;2.14;3.44	5.33	2.47	0.30058	.	0.702516	0.13467	N	0.385738	T	0.18923	0.0454	L	0.40543	1.245	0.32372	N	0.555767	P;D;B;B;B	0.56521	0.9;0.976;0.004;0.0;0.001	B;P;B;B;B	0.45794	0.335;0.493;0.011;0.002;0.006	T	0.16571	-1.0398	10	0.18276	T	0.48	-31.2918	10.2721	0.43489	0.2185:0.0:0.7815:0.0	.	206;387;409;387;387	E7EV17;F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;KDM4C_HUMAN;.	D	409;387;387;387;206;206;74	ENSP00000442382:E409D;ENSP00000445427:E387D;ENSP00000370710:E387D;ENSP00000370707:E387D;ENSP00000409353:E206D;ENSP00000440656:E206D;ENSP00000405739:E74D	ENSP00000370707:E387D	E	+	3	2	KDM4C	6974211	0.999000	0.42202	0.988000	0.46212	0.120000	0.20174	0.853000	0.27777	0.312000	0.23038	-0.136000	0.14681	GAG		0.498	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		21	51	1	0	2.38e-13	4.46e-13	21	51				
PTPRD	5789	broad.mit.edu	37	9	8460478	8460478	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:8460478C>G	ENST00000381196.4	-	30	4351	c.3808G>C	c.(3808-3810)Gtt>Ctt	p.V1270L	PTPRD_ENST00000540109.1_Missense_Mutation_p.V1270L|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1270L|PTPRD_ENST00000397606.3_Missense_Mutation_p.V849L|PTPRD_ENST00000397611.3_Missense_Mutation_p.V856L|PTPRD_ENST00000537002.1_Missense_Mutation_p.V856L|PTPRD_ENST00000360074.4_Missense_Mutation_p.V1257L|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1248L|PTPRD_ENST00000355233.5_Missense_Mutation_p.V859L|PTPRD_ENST00000486161.1_Missense_Mutation_p.V859L|PTPRD_ENST00000397617.3_Missense_Mutation_p.V849L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1270					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGACCTACAACCCAGATCAAG	0.448										TSP Lung(15;0.13)																												uc003zkk.2		NA																	0				lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(3808-3810)GTT>CTT		protein tyrosine phosphatase, receptor type, D							176.0	154.0	162.0					9																	8460478		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8460478C>G	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3808G>C	9.37:g.8460478C>G	ENSP00000370593:p.Val1270Leu	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.V859L|PTPRD_uc003zkq.2_Missense_Mutation_p.V859L|PTPRD_uc003zkr.2_Missense_Mutation_p.V854L|PTPRD_uc003zks.2_Missense_Mutation_p.V849L|PTPRD_uc003zkl.2_Missense_Mutation_p.V1261L|PTPRD_uc003zkm.2_Missense_Mutation_p.V1257L|PTPRD_uc003zkn.2_Missense_Mutation_p.V859L|PTPRD_uc003zko.2_Missense_Mutation_p.V856L	p.V1270L	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	32	4519	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	1270			Helical; (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.3808G>C	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941033	0.92526	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.45;0.45;0.49;0.54;0.71;0.84;0.48;0.41;0.45;0.6;0.84	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.77418	0.4127	M	0.87547	2.89	0.80722	D	1	D;P;P;P;D;P;P;P;P	0.69078	0.958;0.841;0.841;0.841;0.997;0.902;0.683;0.93;0.941	P;P;P;P;D;P;B;P;P	0.70016	0.522;0.785;0.785;0.785;0.967;0.893;0.163;0.625;0.643	T	0.78897	-0.2023	9	.	.	.	.	19.8827	0.96904	0.0:1.0:0.0:0.0	.	849;854;859;859;856;856;1257;1270;1270	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	L	1270;1270;1257;1248;859;849;856;856;741;1270;859;849	ENSP00000370593:V1270L;ENSP00000348812:V1270L;ENSP00000353187:V1257L;ENSP00000351293:V1248L;ENSP00000347373:V859L;ENSP00000380741:V849L;ENSP00000380735:V856L;ENSP00000440515:V856L;ENSP00000438164:V1270L;ENSP00000417093:V859L;ENSP00000380731:V849L	.	V	-	1	0	PTPRD	8450478	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.463000	0.80869	2.793000	0.96121	0.563000	0.77884	GTT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			19	51	0	0	0	0	19	51				
BNC2	54796	broad.mit.edu	37	9	16437135	16437135	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:16437135G>A	ENST00000380672.4	-	6	1114	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	BNC2_ENST00000380666.2_Missense_Mutation_p.R353W|BNC2_ENST00000545497.1_Missense_Mutation_p.R258W|BNC2_ENST00000380667.2_Missense_Mutation_p.R286W	NM_017637.5	NP_060107.3			basonuclin 2									p.R353W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTGGGTTCCCGCAGCCTCAAC	0.468																																						uc003zml.2		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|central_nervous_system(1)	3						c.(1057-1059)CGG>TGG		basonuclin 2							104.0	107.0	106.0					9																	16437135		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16437135G>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1057C>T	9.37:g.16437135G>A	ENSP00000370047:p.Arg353Trp					BNC2_uc011lmw.1_Missense_Mutation_p.R258W|BNC2_uc003zmm.2_Missense_Mutation_p.R311W|BNC2_uc003zmq.1_Missense_Mutation_p.R367W|BNC2_uc003zmr.1_Missense_Mutation_p.R390W|BNC2_uc003zmp.1_Missense_Mutation_p.R381W|BNC2_uc010mij.1_Missense_Mutation_p.R275W|BNC2_uc011lmv.1_Missense_Mutation_p.R179W|BNC2_uc003zmo.1_Missense_Mutation_p.R275W|BNC2_uc003zmj.2_Missense_Mutation_p.R118W|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.R118W|BNC2_uc003zmn.1_Missense_Mutation_p.R118W	p.R353W	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1197	-			353						Missense_Mutation	SNP	ENST00000380672.4	37	c.1057C>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754057	0.49362	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.34667	1.37;1.36;1.39;1.38;1.35	5.96	2.87	0.33458	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	L	0.51422	1.61	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D	0.87578	0.899;0.996;0.996;0.996;0.985;0.998;0.985;0.985;0.998;0.996	T	0.56944	-0.7895	10	0.72032	D	0.01	-11.725	14.7386	0.69437	0.0:0.0:0.6137:0.3863	.	258;286;390;353;179;353;311;353;258;118	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;.;BNC2_HUMAN;.;.	W	353;310;390;381;286;258;179;353;353	ENSP00000370047:R353W;ENSP00000408370:R310W;ENSP00000370042:R286W;ENSP00000444640:R258W;ENSP00000370041:R353W	ENSP00000370041:R353W	R	-	1	2	BNC2	16427135	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.690000	0.54713	0.773000	0.33404	0.655000	0.94253	CGG		0.468	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		30	101	0	0	0	0	30	101				
ADAMTSL1	92949	broad.mit.edu	37	9	18889647	18889647	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:18889647G>A	ENST00000380548.4	+	25	4883	c.4544G>A	c.(4543-4545)tGc>tAc	p.C1515Y	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.C216Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1515						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)		CGCTTGAGGTGCCTGCTGAAC	0.642																																						uc003zne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5						c.(4543-4545)TGC>TAC		ADAMTS-like 1 isoform 4 precursor							30.0	35.0	33.0					9																	18889647		1991	4159	6150	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18889647G>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.4544G>A	9.37:g.18889647G>A	ENSP00000369921:p.Cys1515Tyr					ADAMTSL1_uc003znf.3_Missense_Mutation_p.C216Y	p.C1515Y	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	25	4671	+			1515					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.4544G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054446	0.75960	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541;ENST00000380538	T;T;T	0.69040	-0.37;-0.37;-0.37	5.77	5.77	0.91146	.	0.052354	0.85682	D	0.000000	D	0.88880	0.6557	H	0.96833	3.89	0.53688	D	0.999975	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91884	0.5518	10	0.87932	D	0	.	19.9928	0.97374	0.0:0.0:1.0:0.0	.	216;1515	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	Y	1515;216;219;219;117	ENSP00000369921:C1515Y;ENSP00000369918:C216Y;ENSP00000369911:C117Y	ENSP00000325584:C219Y	C	+	2	0	ADAMTSL1	18879647	1.000000	0.71417	0.984000	0.44739	0.625000	0.37756	6.698000	0.74608	2.745000	0.94114	0.650000	0.86243	TGC		0.642	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			8	20	0	0	0	0	8	20				
PLAA	9373	broad.mit.edu	37	9	26905641	26905641	+	Silent	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:26905641A>G	ENST00000397292.3	-	14	2673	c.2256T>C	c.(2254-2256)ctT>ctC	p.L752L		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	752	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CATCACTGATAAGTGTTCCAA	0.373																																					Melanoma(175;2670 2735 14091 35526)	uc003zqd.2		NA																	0					0						c.(2254-2256)CTT>CTC		phospholipase A2-activating protein							106.0	103.0	104.0					9																	26905641		2203	4300	6503	SO:0001819	synonymous_variant	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905641A>G	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.2256T>C	9.37:g.26905641A>G							p.L752L	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2681	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	752			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Silent	SNP	ENST00000397292.3	37	c.2256T>C	CCDS35000.1																																																																																				0.373	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		18	53	0	0	0	0	18	53				
PRSS3	5646	broad.mit.edu	37	9	33799064	33799064	+	Silent	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:33799064C>G	ENST00000361005.5	+	5	801	c.801C>G	c.(799-801)ctC>ctG	p.L267L	PRSS3_ENST00000342836.4_Silent_p.L224L|PRSS3_ENST00000429677.3_Silent_p.L203L|PRSS3_ENST00000379405.3_Silent_p.L210L|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000495682.1_3'UTR	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	267	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ACGGACAGCTCCAAGGAGTTG	0.522																																						uc003ztj.3		NA																	0					0						c.(799-801)CTC>CTG		mesotrypsin isoform 1 preproprotein							90.0	87.0	88.0					9																	33799064		2203	4300	6503	SO:0001819	synonymous_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33799064C>G		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.801C>G	9.37:g.33799064C>G						uc003ztk.1_Intron|PRSS3_uc003zti.3_Silent_p.L224L|PRSS3_uc003ztl.3_Silent_p.L210L	p.L267L	NM_007343	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		5	801	+			267			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	c.801C>G	CCDS47958.1																																																																																				0.522	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		34	100	0	0	0	0	34	100				
VCP	7415	broad.mit.edu	37	9	35061050	35061050	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35061050C>A	ENST00000358901.6	-	11	2216	c.1321G>T	c.(1321-1323)Gtc>Ttc	p.V441F		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	441					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGTTCATGACCTCGGCATCA	0.527																																						uc003zvy.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1321-1323)GTC>TTC		valosin-containing protein							245.0	227.0	234.0					9																	35061050		2203	4300	6503	SO:0001583	missense	7415				activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	g.chr9:35061050C>A	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1321G>T	9.37:g.35061050C>A	ENSP00000351777:p.Val441Phe					VCP_uc003zvz.2_RNA|VCP_uc010mkh.1_Missense_Mutation_p.V110F|VCP_uc010mki.1_Missense_Mutation_p.V396F	p.V441F	NM_007126	NP_009057	P55072	TERA_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		11	1710	-			441					B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	ENST00000358901.6	37	c.1321G>T	CCDS6573.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855875	0.51376	.	.	ENSG00000165280	ENST00000358901	D	0.86164	-2.08	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.91499	0.7316	L	0.60455	1.87	0.80722	D	1	P	0.49559	0.925	P	0.60415	0.874	D	0.91657	0.5339	10	0.54805	T	0.06	-21.0943	18.7507	0.91814	0.0:1.0:0.0:0.0	.	441	P55072	TERA_HUMAN	F	441	ENSP00000351777:V441F	ENSP00000351777:V441F	V	-	1	0	VCP	35051050	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.050000	0.71063	2.514000	0.84764	0.462000	0.41574	GTC		0.527	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126		54	181	1	0	1.55e-18	3.11e-18	54	181				
RUSC2	9853	broad.mit.edu	37	9	35557972	35557972	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35557972G>T	ENST00000455600.1	+	6	3614	c.3045G>T	c.(3043-3045)cgG>cgT	p.R1015R		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1015						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCACAAGCCGGGATCCCGGGG	0.557																																						uc003zww.2		NA																	0				ovary(1)	1						c.(3043-3045)CGG>CGT		RUN and SH3 domain containing 2							140.0	122.0	128.0					9																	35557972		2203	4300	6503	SO:0001819	synonymous_variant	9853					cytosol		g.chr9:35557972G>T	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3045G>T	9.37:g.35557972G>T						RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Silent_p.R1015R	p.R1015R	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		6	3300	+			1015					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Silent	SNP	ENST00000455600.1	37	c.3045G>T	CCDS35008.1																																																																																				0.557	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		24	73	1	0	3.8e-20	7.72e-20	24	73				
TESK1	7016	broad.mit.edu	37	9	35609311	35609311	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35609311C>T	ENST00000336395.5	+	10	1703	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	485					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCAGCGCCCCAGCTGCCTCT	0.647																																						uc003zxa.2		NA																	0				stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(1453-1455)CAG>TAG		testis-specific protein kinase 1							30.0	34.0	33.0					9																	35609311		2188	4272	6460	SO:0001587	stop_gained	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609311C>T	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1453C>T	9.37:g.35609311C>T	ENSP00000338127:p.Gln485*					TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Nonsense_Mutation_p.Q325*	p.Q485*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1789	+			485					Q8IXZ8	Nonsense_Mutation	SNP	ENST00000336395.5	37	c.1453C>T	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875863	0.91664	.	.	ENSG00000107140	ENST00000336395	.	.	.	5.77	3.39	0.38822	.	0.427784	0.17520	N	0.171296	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-6.9057	10.6919	0.45875	0.0:0.7141:0.2097:0.0761	.	.	.	.	X	485	.	ENSP00000338127:Q485X	Q	+	1	0	TESK1	35599311	0.002000	0.14202	0.995000	0.50966	0.527000	0.34593	0.584000	0.23864	2.724000	0.93272	0.643000	0.83706	CAG		0.647	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		23	59	0	0	0	0	23	59				
NPR2	4882	broad.mit.edu	37	9	35809452	35809452	+	3'UTR	SNP	C	C	A	rs183710056		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35809452C>A	ENST00000342694.2	+	0	3409				AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000479751.1_5'Flank|SPAG8_ENST00000340291.2_Nonsense_Mutation_p.E441*	NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2						bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	AACCCCCATTCTTTCCAAGTC	0.493													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20321	0.0		0.0	False		,,,				2504	0.0					uc003zye.2		NA																	0				ovary(1)	1						c.(1321-1323)GAA>TAA		sperm associated antigen 8 isoform 2							299.0	303.0	302.0					9																	35809452		2203	4300	6503	SO:0001624	3_prime_UTR_variant	26206					acrosomal vesicle|membrane		g.chr9:35809452C>A	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	ENST00000342694.2:c.*10C>A	9.37:g.35809452C>A						NPR2_uc003zyd.2_3'UTR|NPR2_uc010mlb.2_3'UTR	p.E441*	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		7	1436	-	all_epithelial(49;0.161)		Error:Variant_position_missing_in_Q99932_after_alignment					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	Nonsense_Mutation	SNP	ENST00000342694.2	37	c.1321G>T	CCDS6590.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	15.96	2.986024	0.53934	.	.	ENSG00000137098	ENST00000340291	.	.	.	5.26	5.26	0.73747	.	0.563494	0.14821	N	0.296438	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.0885	17.4404	0.87563	0.0:1.0:0.0:0.0	.	.	.	.	X	441	.	ENSP00000340982:E441X	E	-	1	0	SPAG8	35799452	0.052000	0.20516	0.157000	0.22605	0.213000	0.24496	2.143000	0.42187	2.458000	0.83093	0.655000	0.94253	GAA		0.493	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1			99	244	1	0	3.37e-40	7.18e-40	99	244				
PAX5	5079	broad.mit.edu	37	9	36846845	36846845	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:36846845A>T	ENST00000358127.4	-	9	1168	c.1094T>A	c.(1093-1095)cTg>cAg	p.L365Q	PAX5_ENST00000377853.2_Intron|PAX5_ENST00000523241.1_Missense_Mutation_p.C288S|PAX5_ENST00000414447.1_Missense_Mutation_p.L322Q|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000520281.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.L257Q|PAX5_ENST00000377852.2_Missense_Mutation_p.L331Q|PAX5_ENST00000446742.1_Missense_Mutation_p.L265Q|PAX5_ENST00000377847.2_Intron	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	365					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	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)	p.?(11)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CTCACCAAGCAGCCCCGGGTT	0.632			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1		NA		Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	11	Unknown(11)	p.?(11)	haematopoietic_and_lymphoid_tissue(11)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(1093-1095)CTG>CAG		paired box 5							48.0	50.0	49.0					9																	36846845		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36846845A>T		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.1094T>A	9.37:g.36846845A>T	ENSP00000350844:p.Leu365Gln					PAX5_uc011lpt.1_Missense_Mutation_p.L161Q|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.L265Q|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.L322Q|PAX5_uc011lqa.1_Missense_Mutation_p.L257Q|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.L331Q|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.C288S	p.L365Q	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	9	1542	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	365					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.1094T>A	CCDS6607.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.9|24.9	4.580712|4.580712	0.86748|0.86748	.|.	.|.	ENSG00000196092|ENSG00000196092	ENST00000523241|ENST00000358127;ENST00000377849;ENST00000377852;ENST00000446742;ENST00000522003;ENST00000414447;ENST00000524340	D|T;T;T;T;T;T	0.97688|0.44881	-4.49|0.91;0.91;0.91;0.91;0.91;0.91	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	.|0.096188	.|0.41294	.|D	.|0.000916	T|T	0.63827|0.63827	0.2544|0.2544	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	B|D;D;D;D;D	0.19583|0.89917	0.037|1.0;0.999;0.999;0.997;0.997	B|D;D;D;D;D	0.18263|0.87578	0.021|0.993;0.998;0.998;0.995;0.995	T|T	0.66980|0.66980	-0.5786|-0.5786	9|10	0.21014|0.62326	T|D	0.42|0.03	.|.	14.6275|14.6275	0.68632|0.68632	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	288|322;265;192;331;365	E7EQT0|C0KTF7;C0KTF9;C0KTE2;Q6S731;Q02548	.|.;.;.;.;PAX5_HUMAN	S|Q	288|365;276;331;265;257;322;192	ENSP00000429637:C288S|ENSP00000350844:L365Q;ENSP00000367083:L331Q;ENSP00000404687:L265Q;ENSP00000429359:L257Q;ENSP00000412188:L322Q;ENSP00000429404:L192Q	ENSP00000429637:C288S|ENSP00000350844:L365Q	C|L	-|-	1|2	0|0	PAX5|PAX5	36836845|36836845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.732000|7.732000	0.84908|0.84908	2.091000|2.091000	0.63221|0.63221	0.459000|0.459000	0.35465|0.35465	TGC|CTG		0.632	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			9	23	0	0	0	0	9	23				
FBXO10	26267	broad.mit.edu	37	9	37531943	37531943	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:37531943C>G	ENST00000432825.2	-	4	1580	c.1532G>C	c.(1531-1533)gGt>gCt	p.G511A	FBXO10_ENST00000543968.1_5'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.G36A	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	511					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GATGTCTACACCAGCCTCTGC	0.493																																						uc004aab.2		NA																	0				lung(5)	5						c.(1531-1533)GGT>GCT		F-box protein 10							99.0	98.0	98.0					9																	37531943		1984	4158	6142	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37531943C>G	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1532G>C	9.37:g.37531943C>G	ENSP00000403802:p.Gly511Ala					FBXO10_uc004aac.2_Missense_Mutation_p.G527A|FBXO10_uc004aad.2_Missense_Mutation_p.G61A	p.G511A	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	4	1581	-			511			PbH1 6.		Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.1532G>C	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192591	0.78902	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	D;D	0.86366	-2.09;-2.11	5.45	5.45	0.79879	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	D	0.93598	0.7956	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.977	D;D;P	0.97110	1.0;1.0;0.655	D	0.92952	0.6381	10	0.41790	T	0.15	-24.9858	18.0543	0.89360	0.0:1.0:0.0:0.0	.	390;36;511	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	A	511;36	ENSP00000403802:G511A;ENSP00000441307:G36A	ENSP00000276960:G511A	G	-	2	0	FBXO10	37521943	1.000000	0.71417	0.960000	0.40013	0.948000	0.59901	5.362000	0.66098	2.572000	0.86782	0.462000	0.41574	GGT		0.493	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			12	42	0	0	0	0	12	42				
FRMPD1	22844	broad.mit.edu	37	9	37745967	37745967	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:37745967C>A	ENST00000539465.1	+	16	4531	c.3938C>A	c.(3937-3939)gCc>gAc	p.A1313D	FRMPD1_ENST00000377765.3_Missense_Mutation_p.A1313D|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1313						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCAGGGTGGCCACATCTTTG	0.532																																						uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(3937-3939)GCC>GAC		FERM and PDZ domain containing 1							104.0	103.0	103.0					9																	37745967		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37745967C>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.3938C>A	9.37:g.37745967C>A	ENSP00000444411:p.Ala1313Asp					FRMPD1_uc004aah.1_Missense_Mutation_p.A1313D	p.A1313D	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	3982	+			1313					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.3938C>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	9.161	1.018774	0.19355	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.06933	3.24;3.24	5.06	1.92	0.25849	.	0.438453	0.24869	N	0.034942	T	0.03871	0.0109	N	0.24115	0.695	0.09310	N	0.999995	B	0.06786	0.001	B	0.08055	0.003	T	0.40869	-0.9540	10	0.11794	T	0.64	-7.6321	2.0937	0.03663	0.2145:0.4894:0.1812:0.115	.	1313	Q5SYB0	FRPD1_HUMAN	D	1313	ENSP00000366995:A1313D;ENSP00000444411:A1313D	ENSP00000366995:A1313D	A	+	2	0	FRMPD1	37735967	0.000000	0.05858	0.071000	0.20095	0.932000	0.56968	0.276000	0.18716	1.103000	0.41568	0.561000	0.74099	GCC		0.532	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		33	91	1	0	1.08e-15	2.11e-15	33	91				
TMEM252	169693	broad.mit.edu	37	9	71152371	71152371	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:71152371T>A	ENST00000377311.3	-	2	369	c.317A>T	c.(316-318)gAg>gTg	p.E106V		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	106						integral component of membrane (GO:0016021)											CTTTTCCACCTCAAGGCTCTC	0.498																																						uc004agt.2		NA																	0					0						c.(316-318)GAG>GTG		hypothetical protein LOC169693							54.0	55.0	55.0					9																	71152371		2203	4300	6503	SO:0001583	missense	169693					integral to membrane		g.chr9:71152371T>A	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.317A>T	9.37:g.71152371T>A	ENSP00000366528:p.Glu106Val					uc004ags.1_RNA	p.E106V	NM_153237	NP_694969	Q8N6L7	CI071_HUMAN			2	370	-			106						Missense_Mutation	SNP	ENST00000377311.3	37	c.317A>T	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.303977	0.40795	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.96	0.688	0.18027	.	0.681497	0.14417	N	0.320903	T	0.19248	0.0462	N	0.22421	0.69	0.09310	N	1	B	0.26400	0.148	B	0.24394	0.053	T	0.20107	-1.0285	9	0.66056	D	0.02	-0.3331	1.5082	0.02491	0.1282:0.1529:0.266:0.4528	.	106	Q8N6L7	CI071_HUMAN	V	106	.	ENSP00000366528:E106V	E	-	2	0	C9orf71	70342191	0.000000	0.05858	0.000000	0.03702	0.246000	0.25737	0.294000	0.19047	-0.107000	0.12088	-0.408000	0.06270	GAG		0.498	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		16	40	0	0	0	0	16	40				
TJP2	9414	broad.mit.edu	37	9	71835869	71835869	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:71835869G>A	ENST00000377245.4	+	5	617	c.409G>A	c.(409-411)Gac>Aac	p.D137N	TJP2_ENST00000265384.7_Missense_Mutation_p.D137N|TJP2_ENST00000535702.1_Missense_Mutation_p.D141N|TJP2_ENST00000539225.1_Missense_Mutation_p.D168N|TJP2_ENST00000453658.2_Missense_Mutation_p.D114N|TJP2_ENST00000348208.4_Missense_Mutation_p.D137N	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	137					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGATCAGGATGACCGGGCTTT	0.612																																						uc004ahe.2		NA																	0					0						c.(409-411)GAC>AAC		tight junction protein 2 (zona occludens 2)							34.0	33.0	33.0					9																	71835869		2203	4298	6501	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71835869G>A	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.409G>A	9.37:g.71835869G>A	ENSP00000366453:p.Asp137Asn					TJP2_uc011lrs.1_Missense_Mutation_p.D114N|TJP2_uc004ahb.1_Missense_Mutation_p.D114N|TJP2_uc011lrt.1_Missense_Mutation_p.D114N|TJP2_uc004ahd.2_Missense_Mutation_p.D137N|TJP2_uc004ahf.2_Missense_Mutation_p.D137N|TJP2_uc011lru.1_Missense_Mutation_p.D141N|TJP2_uc011lrv.1_Missense_Mutation_p.D159N	p.D137N	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			5	609	+			137					A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.409G>A	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.043849	0.36085	.	.	ENSG00000119139	ENST00000453658;ENST00000423935;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T;T	0.35605	2.97;1.3;2.95;2.96;2.96;2.96;2.99	6.03	6.03	0.97812	.	0.426630	0.27577	N	0.018756	T	0.34483	0.0899	L	0.41236	1.265	0.35169	D	0.771362	B;B;B;B;B	0.32526	0.028;0.374;0.006;0.215;0.023	B;B;B;B;B	0.38225	0.022;0.268;0.007;0.138;0.016	T	0.46133	-0.9213	10	0.48119	T	0.1	.	11.7353	0.51761	0.0:0.1326:0.7298:0.1376	.	168;141;137;137;137	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	N	114;114;137;137;137;141;168	ENSP00000392178:D114N;ENSP00000402941:D114N;ENSP00000366453:D137N;ENSP00000345893:D137N;ENSP00000265384:D137N;ENSP00000442090:D141N;ENSP00000438262:D168N	ENSP00000265384:D137N	D	+	1	0	TJP2	71025689	1.000000	0.71417	0.969000	0.41365	0.160000	0.22226	3.327000	0.52045	2.861000	0.98227	0.655000	0.94253	GAC		0.612	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		7	22	0	0	0	0	7	22				
RORB	6096	broad.mit.edu	37	9	77282809	77282809	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:77282809T>A	ENST00000396204.2	+	8	1136	c.1136T>A	c.(1135-1137)aTa>aAa	p.I379K	RORB_ENST00000376896.3_Missense_Mutation_p.I368K			Q92753	RORB_HUMAN	RAR-related orphan receptor B	379	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GCTGTTCTGATATCTCCAGGT	0.413																																						uc004aji.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1135-1137)ATA>AAA		RAR-related orphan receptor B							200.0	172.0	181.0					9																	77282809		2203	4300	6503	SO:0001583	missense	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77282809T>A	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1136T>A	9.37:g.77282809T>A	ENSP00000379507:p.Ile379Lys					RORB_uc004ajh.2_Missense_Mutation_p.I368K	p.I379K	NM_006914	NP_008845	Q92753	RORB_HUMAN			8	1185	+			379			Ligand-binding (Potential).		Q8WX73	Missense_Mutation	SNP	ENST00000396204.2	37	c.1136T>A		.	.	.	.	.	.	.	.	.	.	T	29.3	4.998439	0.93227	.	.	ENSG00000198963	ENST00000376896;ENST00000396204	D;D	0.96774	-4.12;-4.12	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.039750	0.85682	D	0.000000	D	0.98005	0.9343	M	0.77103	2.36	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.79108	0.991;0.992	D	0.98784	1.0733	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	379;368	Q92753;Q58EY0	RORB_HUMAN;.	K	368;379	ENSP00000366093:I368K;ENSP00000379507:I379K	ENSP00000366093:I368K	I	+	2	0	RORB	76472629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.966000	0.87956	2.371000	0.80710	0.533000	0.62120	ATA		0.413	RORB-201	KNOWN	basic	protein_coding	protein_coding				12	56	0	0	0	0	12	56				
FOXB2	442425	broad.mit.edu	37	9	79635323	79635323	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:79635323G>T	ENST00000376708.1	+	1	753	c.753G>T	c.(751-753)tcG>tcT	p.S251S		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	251					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						GGCTGGGCTCGgccgccgccg	0.746																																						uc004ako.1		NA																	0					0						c.(751-753)TCG>TCT		forkhead box B2							8.0	11.0	10.0					9																	79635323		2109	4131	6240	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635323G>T		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.753G>T	9.37:g.79635323G>T							p.S251S	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	753	+			251						Silent	SNP	ENST00000376708.1	37	c.753G>T	CCDS35045.1																																																																																				0.746	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		7	17	1	0	2.77e-08	4.76e-08	7	17				
SPATA31D1	389763	broad.mit.edu	37	9	84606419	84606419	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:84606419G>T	ENST00000344803.2	+	4	1081	c.1034G>T	c.(1033-1035)gGc>gTc	p.G345V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	345					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACAATCAAAGGCATTGACCAT	0.458																																						uc004amn.2		NA																	0					0						c.(1033-1035)GGC>GTC		hypothetical protein LOC389763							156.0	142.0	146.0					9																	84606419		1941	4139	6080	SO:0001583	missense	389763					integral to membrane		g.chr9:84606419G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1034G>T	9.37:g.84606419G>T	ENSP00000341988:p.Gly345Val						p.G345V	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	1081	+			345						Missense_Mutation	SNP	ENST00000344803.2	37	c.1034G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554840	0.27739	.	.	ENSG00000214929	ENST00000344803	T	0.15834	2.39	2.74	-0.406	0.12389	.	1.718240	0.03490	N	0.216444	T	0.34019	0.0883	M	0.78049	2.395	0.18873	N	0.999985	P	0.50272	0.933	P	0.56127	0.792	T	0.14868	-1.0457	10	0.72032	D	0.01	0.0232	3.1722	0.06556	0.2807:0.227:0.4923:0.0	.	345	Q6ZQQ2	F75D1_HUMAN	V	345	ENSP00000341988:G345V	ENSP00000341988:G345V	G	+	2	0	FAM75D1	83796239	0.017000	0.18338	0.002000	0.10522	0.003000	0.03518	0.420000	0.21263	-0.058000	0.13177	-0.300000	0.09419	GGC		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		39	84	1	0	1.07e-22	2.21e-22	39	84				
SPATA31D1	389763	broad.mit.edu	37	9	84608333	84608333	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:84608333T>C	ENST00000344803.2	+	4	2995	c.2948T>C	c.(2947-2949)cTt>cCt	p.L983P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	983					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCCCCATCCTTGATCGTCCT	0.488																																						uc004amn.2		NA																	0					0						c.(2947-2949)CTT>CCT		hypothetical protein LOC389763							132.0	134.0	134.0					9																	84608333		1960	4146	6106	SO:0001583	missense	389763					integral to membrane		g.chr9:84608333T>C		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2948T>C	9.37:g.84608333T>C	ENSP00000341988:p.Leu983Pro						p.L983P	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	2995	+			983						Missense_Mutation	SNP	ENST00000344803.2	37	c.2948T>C	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	12.60	1.985997	0.35036	.	.	ENSG00000214929	ENST00000344803	T	0.06371	3.31	1.9	1.9	0.25705	.	.	.	.	.	T	0.06188	0.0160	N	0.14661	0.345	0.09310	N	0.999999	B	0.32753	0.383	B	0.43950	0.437	T	0.42783	-0.9431	9	0.54805	T	0.06	.	5.8881	0.18892	0.0:0.0:0.0:1.0	.	983	Q6ZQQ2	F75D1_HUMAN	P	983	ENSP00000341988:L983P	ENSP00000341988:L983P	L	+	2	0	FAM75D1	83798153	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.144000	0.16135	1.169000	0.42739	0.454000	0.30748	CTT		0.488	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		67	124	0	0	0	0	67	124				
SPATA31D1	389763	broad.mit.edu	37	9	84608809	84608809	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:84608809G>T	ENST00000344803.2	+	4	3471	c.3424G>T	c.(3424-3426)Ggc>Tgc	p.G1142C		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1142					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CAGGCTTCAGGGCAGTAGAAA	0.468																																						uc004amn.2		NA																	0					0						c.(3424-3426)GGC>TGC		hypothetical protein LOC389763							60.0	59.0	59.0					9																	84608809		1951	4142	6093	SO:0001583	missense	389763					integral to membrane		g.chr9:84608809G>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.3424G>T	9.37:g.84608809G>T	ENSP00000341988:p.Gly1142Cys						p.G1142C	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	3471	+			1142						Missense_Mutation	SNP	ENST00000344803.2	37	c.3424G>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004901	0.35415	.	.	ENSG00000214929	ENST00000344803	T	0.09911	2.93	2.59	-0.468	0.12146	.	.	.	.	.	T	0.12518	0.0304	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.20405	-1.0276	9	0.38643	T	0.18	2.7286	2.9089	0.05730	0.3018:0.2433:0.4549:0.0	.	1142	Q6ZQQ2	F75D1_HUMAN	C	1142	ENSP00000341988:G1142C	ENSP00000341988:G1142C	G	+	1	0	FAM75D1	83798629	0.132000	0.22450	0.000000	0.03702	0.268000	0.26511	0.559000	0.23485	-0.099000	0.12263	0.603000	0.83216	GGC		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		21	30	1	0	1.01e-13	1.91e-13	21	30				
NOL8	55035	broad.mit.edu	37	9	95076834	95076834	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:95076834T>C	ENST00000535387.1	-	6	2072	c.2073A>G	c.(2071-2073)atA>atG	p.I691M	NOL8_ENST00000542053.1_Missense_Mutation_p.I623M|NOL8_ENST00000545558.1_Missense_Mutation_p.I691M|NOL8_ENST00000442668.2_Missense_Mutation_p.I691M|NOL8_ENST00000358855.4_Missense_Mutation_p.I623M					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGTCAAAGCCTATGTTGTGAG	0.438																																						uc004arv.2		NA																	0				ovary(1)	1						c.(2071-2073)ATA>ATG		nucleolar protein 8							38.0	34.0	35.0					9																	95076834		1881	4112	5993	SO:0001583	missense	55035				DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	g.chr9:95076834T>C	AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2073A>G	9.37:g.95076834T>C	ENSP00000441300:p.Ile691Met					NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.I623M	p.I691M	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN			7	2410	-			691						Missense_Mutation	SNP	ENST00000535387.1	37	c.2073A>G	CCDS47993.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.151971	0.06585	.	.	ENSG00000198000	ENST00000442668;ENST00000375594;ENST00000358855;ENST00000545558;ENST00000535387;ENST00000542053;ENST00000432670	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.48	-1.68	0.08212	.	1.553240	0.03956	N	0.289369	T	0.25044	0.0608	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.15780	-1.0425	10	0.48119	T	0.1	0.8202	1.9881	0.03440	0.1293:0.1597:0.3876:0.3234	.	691	Q76FK4	NOL8_HUMAN	M	691;693;623;691;691;623;691	ENSP00000401177:I691M;ENSP00000351723:I623M;ENSP00000441140:I691M;ENSP00000441300:I691M;ENSP00000440709:I623M;ENSP00000414112:I691M	ENSP00000351723:I623M	I	-	3	3	NOL8	94116655	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.069000	0.03444	-0.208000	0.10171	-0.411000	0.06167	ATA		0.438	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053082.2	NM_017948		7	52	0	0	0	0	7	52				
SUSD3	203328	broad.mit.edu	37	9	95846964	95846964	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:95846964C>G	ENST00000375472.3	+	5	739	c.703C>G	c.(703-705)Ccc>Gcc	p.P235A	SUSD3_ENST00000375469.1_Missense_Mutation_p.P222A	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	235						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCCCAGACAGCCCCTGCCTGC	0.637																																						uc004atb.2		NA																	0				breast(2)|skin(2)|ovary(1)|lung(1)	6						c.(703-705)CCC>GCC		sushi domain containing 3							90.0	86.0	88.0					9																	95846964		2203	4300	6503	SO:0001583	missense	203328					integral to membrane		g.chr9:95846964C>G	AK128289	CCDS6701.1, CCDS69620.1, CCDS75857.1	9q22.32	2004-01-29			ENSG00000157303	ENSG00000157303			28391	protein-coding gene	gene with protein product						12975309	Standard	NM_001287007		Approved	MGC26847	uc004atb.3	Q96L08	OTTHUMG00000020241	ENST00000375472.3:c.703C>G	9.37:g.95846964C>G	ENSP00000364621:p.Pro235Ala					SUSD3_uc004atc.2_Missense_Mutation_p.P222A	p.P235A	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN			5	739	+			235			Cytoplasmic (Potential).		Q49AA6|Q6UXV7	Missense_Mutation	SNP	ENST00000375472.3	37	c.703C>G	CCDS6701.1	.	.	.	.	.	.	.	.	.	.	C	2.801	-0.249186	0.05867	.	.	ENSG00000157303	ENST00000375472;ENST00000375469	T;T	0.58940	0.3;0.7	4.09	-4.14	0.03892	.	1.687960	0.03982	N	0.293425	T	0.34164	0.0888	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.07501	-1.0769	10	0.14656	T	0.56	-0.3992	1.3461	0.02164	0.2663:0.3084:0.2861:0.1391	.	222;235	Q96L08-2;Q96L08	.;SUSD3_HUMAN	A	235;222	ENSP00000364621:P235A;ENSP00000364618:P222A	ENSP00000364618:P222A	P	+	1	0	SUSD3	94886785	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.451000	0.06795	-0.838000	0.04218	-0.457000	0.05445	CCC		0.637	SUSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053120.1	NM_145006		52	157	0	0	0	0	52	157				
WNK2	65268	broad.mit.edu	37	9	96025977	96025977	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:96025977G>T	ENST00000297954.4	+	14	3540	c.3540G>T	c.(3538-3540)cgG>cgT	p.R1180R	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Silent_p.R792R|WNK2_ENST00000427277.2_Silent_p.R792R|WNK2_ENST00000395477.2_Silent_p.R1180R	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1180					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CGCGCTCCCGGCAGGAGAGGG	0.706																																						uc004ati.1		NA																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(3538-3540)CGG>CGT		WNK lysine deficient protein kinase 2							11.0	11.0	11.0					9																	96025977		2169	4256	6425	SO:0001819	synonymous_variant	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96025977G>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.3540G>T	9.37:g.96025977G>T						WNK2_uc011lud.1_Silent_p.R1180R|WNK2_uc004atj.2_Silent_p.R1180R|WNK2_uc004atk.2_Silent_p.R817R	p.R1180R	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			14	3540	+			1180					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Silent	SNP	ENST00000297954.4	37	c.3540G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.46|11.46	1.645077|1.645077	0.29246|0.29246	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000432730	.|.	.|.	.|.	5.3|5.3	0.844|0.844	0.18943|0.18943	.|.	.|.	.|.	.|.	.|.	T|T	0.57446|0.57446	0.2054|0.2054	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.49826|0.49826	-0.8898|-0.8898	4|4	.|.	.|.	.|.	.|.	9.5921|9.5921	0.39552|0.39552	0.0:0.5541:0.2823:0.1636|0.0:0.5541:0.2823:0.1636	.|.	.|.	.|.	.|.	S|V	784|1176	.|.	.|.	A|G	+|+	1|2	0|0	WNK2|WNK2	95065798|95065798	0.997000|0.997000	0.39634|0.39634	0.997000|0.997000	0.53966|0.53966	0.982000|0.982000	0.71751|0.71751	0.432000|0.432000	0.21461|0.21461	-0.041000|-0.041000	0.13558|0.13558	0.552000|0.552000	0.68991|0.68991	GCA|GGC		0.706	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		6	9	1	0	5.94e-07	9.85e-07	6	9				
PTPDC1	138639	broad.mit.edu	37	9	96859788	96859788	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:96859788G>T	ENST00000375360.3	+	7	1118	c.778G>T	c.(778-780)Gct>Tct	p.A260S	PTPDC1_ENST00000288976.3_Missense_Mutation_p.A312S	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	260					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAAAGCACATGCTGTCACCTT	0.438																																						uc004auf.1		NA																	0				ovary(1)	1						c.(778-780)GCT>TCT		protein tyrosine phosphatase domain containing 1							138.0	130.0	132.0					9																	96859788		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859788G>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.778G>T	9.37:g.96859788G>T	ENSP00000364509:p.Ala260Ser					PTPDC1_uc004aug.1_Missense_Mutation_p.A260S|PTPDC1_uc004auh.1_Missense_Mutation_p.A312S|PTPDC1_uc010mrj.1_Missense_Mutation_p.A314S|PTPDC1_uc010mri.1_Missense_Mutation_p.A312S	p.A260S	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN			7	1118	+			260					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.778G>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	17.07	3.295042	0.60086	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.13307	2.61;2.6	5.55	5.55	0.83447	.	0.212151	0.47093	D	0.000253	T	0.23054	0.0557	M	0.76574	2.34	0.37098	D	0.899773	P;P;B;P	0.47302	0.893;0.722;0.268;0.601	P;B;B;B	0.46208	0.507;0.407;0.206;0.174	T	0.09037	-1.0693	10	0.29301	T	0.29	-18.3915	13.8135	0.63276	0.0758:0.0:0.9242:0.0	.	314;312;314;260	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	S	260;312	ENSP00000364509:A260S;ENSP00000288976:A312S	ENSP00000288976:A312S	A	+	1	0	PTPDC1	95899609	0.974000	0.33945	1.000000	0.80357	0.998000	0.95712	2.080000	0.41586	2.610000	0.88304	0.591000	0.81541	GCT		0.438	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422		129	76	1	0	1.62e-62	3.47e-62	129	76				
GABBR2	9568	broad.mit.edu	37	9	101216274	101216274	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:101216274A>G	ENST00000259455.2	-	7	1684	c.1225T>C	c.(1225-1227)Ttc>Ctc	p.F409L		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	409					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GTGACCCCGAAGAAGTTGGTC	0.532																																						uc004ays.2		NA																	0				ovary(2)|skin(2)	4						c.(1225-1227)TTC>CTC		G protein-coupled receptor 51 precursor	Baclofen(DB00181)						183.0	162.0	169.0					9																	101216274		2203	4300	6503	SO:0001583	missense	9568				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr9:101216274A>G	AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.1225T>C	9.37:g.101216274A>G	ENSP00000259455:p.Phe409Leu						p.F409L	NM_005458	NP_005449	O75899	GABR2_HUMAN			7	1381	-		Acute lymphoblastic leukemia(62;0.0527)	409			Extracellular (Potential).		O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	ENST00000259455.2	37	c.1225T>C	CCDS6736.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124782	0.37533	.	.	ENSG00000136928	ENST00000259455	D	0.82526	-1.62	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.048920	0.85682	D	0.000000	T	0.66896	0.2836	N	0.11201	0.11	0.80722	D	1	B	0.12630	0.006	B	0.11329	0.006	T	0.63292	-0.6670	10	0.08837	T	0.75	.	14.0861	0.64957	1.0:0.0:0.0:0.0	.	409	O75899	GABR2_HUMAN	L	409	ENSP00000259455:F409L	ENSP00000259455:F409L	F	-	1	0	GABBR2	100256095	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.383000	0.79741	2.220000	0.72140	0.528000	0.53228	TTC		0.532	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053373.1			73	70	0	0	0	0	73	70				
CYLC2	1539	broad.mit.edu	37	9	105765547	105765547	+	Splice_Site	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:105765547T>C	ENST00000374798.3	+	3	250		c.e3+2		CYLC2_ENST00000487798.1_Splice_Site	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ACGGTTTCTGTAAGCATTGGA	0.323																																						uc004bbs.2		NA																	0				skin(1)	1						c.e3+2		cylicin 2							72.0	66.0	68.0					9																	105765547		2203	4300	6503	SO:0001630	splice_region_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105765547T>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.180+2T>C	9.37:g.105765547T>C							p.S60_splice	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			3	250	+		all_hematologic(171;0.125)						B2R8F4|Q5VVJ9	Splice_Site	SNP	ENST00000374798.3	37	c.180_splice	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	T	9.351	1.065572	0.20067	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1592	0.48505	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLC2	104805368	1.000000	0.71417	0.996000	0.52242	0.052000	0.14988	3.303000	0.51858	2.205000	0.71048	0.482000	0.46254	.		0.323	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	Intron	16	52	0	0	0	0	16	52				
OR13C9	286362	broad.mit.edu	37	9	107379790	107379790	+	Silent	SNP	C	C	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:107379790C>T	ENST00000259362.1	-	1	695	c.696G>A	c.(694-696)gaG>gaA	p.E232E		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	232						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(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGCTTCTCCCCTCAGAGGAGT	0.428																																						uc011lvr.1		NA																	0					0						c.(694-696)GAG>GAA		olfactory receptor, family 13, subfamily C,							79.0	76.0	77.0					9																	107379790		2202	4300	6502	SO:0001819	synonymous_variant	286362				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107379790C>T		CCDS35093.1	9q31.1	2013-09-24			ENSG00000136839	ENSG00000136839		"""GPCR / Class A : Olfactory receptors"""	15104	protein-coding gene	gene with protein product							Standard	NM_001001956		Approved		uc011lvr.2	Q8NGT0	OTTHUMG00000020416	ENST00000259362.1:c.696G>A	9.37:g.107379790C>T							p.E232E	NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN			1	696	-			232			Cytoplasmic (Potential).		Q6IFL2	Silent	SNP	ENST00000259362.1	37	c.696G>A	CCDS35093.1																																																																																				0.428	OR13C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053490.1			19	85	0	0	0	0	19	85				
RGS3	5998	broad.mit.edu	37	9	116353656	116353656	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:116353656G>T	ENST00000374140.2	+	22	3268	c.3059G>T	c.(3058-3060)cGg>cTg	p.R1020L	RGS3_ENST00000343817.5_Missense_Mutation_p.R739L|RGS3_ENST00000374134.3_Missense_Mutation_p.R341L|RGS3_ENST00000394646.3_Missense_Mutation_p.R413L|RGS3_ENST00000350696.5_Missense_Mutation_p.R1020L|RGS3_ENST00000462403.1_5'Flank|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000462143.1_Missense_Mutation_p.R341L|RP11-168K11.2_ENST00000428429.1_RNA	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1020					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGCCTCCCGGAAGAGAAAG	0.587																																						uc004bhq.2		NA																	0				ovary(1)|lung(1)|skin(1)	3						c.(3058-3060)CGG>CTG		regulator of G-protein signalling 3 isoform 6							98.0	90.0	93.0					9																	116353656		2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116353656G>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3059G>T	9.37:g.116353656G>T	ENSP00000363255:p.Arg1020Leu					RGS3_uc004bhs.2_Missense_Mutation_p.R910L|RGS3_uc004bht.2_Missense_Mutation_p.R739L|RGS3_uc010muy.2_Missense_Mutation_p.R413L|RGS3_uc004bhv.2_Missense_Mutation_p.R341L|RGS3_uc010muz.1_Missense_Mutation_p.R359L|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.R330L|RGS3_uc004bhx.2_Missense_Mutation_p.R341L|RGS3_uc004bhy.1_Missense_Mutation_p.R330L|RGS3_uc004bhz.2_Missense_Mutation_p.R362L|RGS3_uc004bia.2_5'Flank	p.R1020L	NM_144488	NP_652759	P49796	RGS3_HUMAN			22	3268	+			1020					A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3059G>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488361	0.44249	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000374134;ENST00000467805	T;T;T;T;T;T;T	0.78481	0.89;0.89;0.4;2.51;0.39;0.39;-1.18	4.95	-0.805	0.10879	.	0.466026	0.19339	N	0.116697	T	0.60932	0.2307	N	0.16478	0.41	0.58432	D	0.999999	B;B;B;B;B;B;B	0.32893	0.389;0.002;0.0;0.38;0.0;0.0;0.001	B;B;B;B;B;B;B	0.35470	0.203;0.003;0.002;0.081;0.002;0.001;0.002	T	0.55457	-0.8138	10	0.72032	D	0.01	.	9.7112	0.40247	0.4326:0.0:0.5674:0.0	.	359;413;916;341;739;910;1020	B4DWF9;B3KUB2;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;.;RGS3_HUMAN	L	1020;1020;739;413;188;341;341;186	ENSP00000363255:R1020L;ENSP00000259406:R1020L;ENSP00000340284:R739L;ENSP00000378141:R413L;ENSP00000420356:R341L;ENSP00000363249:R341L;ENSP00000417994:R186L	ENSP00000340284:R739L	R	+	2	0	RGS3	115393477	0.260000	0.24053	0.627000	0.29227	0.831000	0.47069	0.300000	0.19156	-0.061000	0.13110	0.555000	0.69702	CGG		0.587	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		24	63	1	0	2.45e-14	4.67e-14	24	63				
ORM2	5005	broad.mit.edu	37	9	117092788	117092788	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:117092788A>T	ENST00000431067.2	+	2	225	c.189A>T	c.(187-189)caA>caT	p.Q63H	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	63					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	AGGAGATCCAAGCAACCTTCT	0.512																																					NSCLC(65;867 1308 1814 2391 12508)	uc004bil.2		NA																	0					0						c.(187-189)CAA>CAT		orosomucoid 2 precursor							73.0	87.0	82.0					9																	117092788		2198	4299	6497	SO:0001583	missense	5005				acute-phase response|regulation of immune system process|transport	extracellular space	binding	g.chr9:117092788A>T		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.189A>T	9.37:g.117092788A>T	ENSP00000394936:p.Gln63His					ORM1_uc011lxo.1_Intron	p.Q63H	NM_000608	NP_000599	P19652	A1AG2_HUMAN			2	305	+		Myeloproliferative disorder(63;0.163)	63					B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	ENST00000431067.2	37	c.189A>T	CCDS6804.1	.	.	.	.	.	.	.	.	.	.	-	12.00	1.807398	0.31961	.	.	ENSG00000228278	ENST00000431067	T	0.14516	2.5	3.11	-5.27	0.02763	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	1.239780	0.05481	N	0.554745	T	0.10508	0.0257	L	0.49350	1.555	0.09310	N	1	B	0.22541	0.071	B	0.14578	0.011	T	0.32955	-0.9887	10	0.52906	T	0.07	-10.0546	2.0244	0.03516	0.5046:0.1413:0.2108:0.1432	.	63	P19652	A1AG2_HUMAN	H	63	ENSP00000394936:Q63H	ENSP00000394936:Q63H	Q	+	3	2	ORM2	116132609	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.199000	0.03032	-1.430000	0.01985	-0.598000	0.04106	CAA		0.512	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		28	48	0	0	0	0	28	48				
TNC	3371	broad.mit.edu	37	9	117849088	117849088	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:117849088C>A	ENST00000350763.4	-	3	1333	c.922G>T	c.(922-924)Gaa>Taa	p.E308*	TNC_ENST00000537320.1_Nonsense_Mutation_p.E308*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E308*|TNC_ENST00000535648.1_Nonsense_Mutation_p.E308*|TNC_ENST00000542877.1_Nonsense_Mutation_p.E308*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E308*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E308*|TNC_ENST00000340094.3_Nonsense_Mutation_p.E308*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E308*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	308	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTGCAGTCTTCGCCCGTGAAA	0.557																																						uc004bjj.3		NA																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(922-924)GAA>TAA		tenascin C precursor							199.0	153.0	168.0					9																	117849088		2203	4300	6503	SO:0001587	stop_gained	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117849088C>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.922G>T	9.37:g.117849088C>A	ENSP00000265131:p.Glu308*					TNC_uc010mvf.2_Nonsense_Mutation_p.E308*	p.E308*	NM_002160	NP_002151	P24821	TENA_HUMAN			3	1284	-			308			EGF-like 5.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	ENST00000350763.4	37	c.922G>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	39	7.769162	0.98480	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.65	4.75	0.60458	.	0.546055	0.20995	N	0.081969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	16.1663	0.81759	0.0:0.8667:0.1333:0.0	.	.	.	.	X	308	.	ENSP00000344400:E308X	E	-	1	0	TNC	116888909	0.686000	0.27661	0.034000	0.17996	0.518000	0.34316	2.490000	0.45294	1.515000	0.48885	0.563000	0.77884	GAA		0.557	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		53	79	1	0	2.12e-23	4.4e-23	53	79				
PAPPA	5069	broad.mit.edu	37	9	118950331	118950331	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:118950331G>T	ENST00000328252.3	+	2	1683	c.1314G>T	c.(1312-1314)ggG>ggT	p.G438G	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	438	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ACGACGGCGGGGATTGCCGCC	0.597																																						uc004bjn.2		NA																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(1312-1314)GGG>GGT		pregnancy-associated plasma protein A							71.0	54.0	59.0					9																	118950331		2203	4300	6503	SO:0001819	synonymous_variant	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:118950331G>T		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1314G>T	9.37:g.118950331G>T						PAPPA_uc011lxp.1_Silent_p.G231G|PAPPA_uc011lxq.1_Silent_p.G231G	p.G438G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			2	1695	+			438			Metalloprotease.		B1AMF9|Q08371|Q68G52|Q9UDK7	Silent	SNP	ENST00000328252.3	37	c.1314G>T	CCDS6813.1																																																																																				0.597	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		17	62	1	0	1.45e-14	2.78e-14	17	62				
ASTN2	23245	broad.mit.edu	37	9	119976723	119976723	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:119976723C>A	ENST00000313400.4	-	3	1029	c.929G>T	c.(928-930)cGc>cTc	p.R310L	ASTN2_ENST00000373996.3_Missense_Mutation_p.R310L|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R310L			O75129	ASTN2_HUMAN	astrotactin 2	310					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTCGTCCTCGCGGGAGACATG	0.577																																						uc004bjs.1		NA																	0				skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(928-930)CGC>CTC		astrotactin 2 isoform c							81.0	81.0	81.0					9																	119976723		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:119976723C>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.929G>T	9.37:g.119976723C>A	ENSP00000314038:p.Arg310Leu					ASTN2_uc004bjr.1_Missense_Mutation_p.R310L|ASTN2_uc004bjt.1_Missense_Mutation_p.R310L	p.R310L	NM_198187	NP_937830	O75129	ASTN2_HUMAN			3	1030	-			310			Cytoplasmic (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.929G>T		.	.	.	.	.	.	.	.	.	.	C	14.08	2.429727	0.43122	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.11712	2.92;2.92;2.75;2.84	5.16	4.26	0.50523	.	0.176451	0.38959	N	0.001513	T	0.06325	0.0163	N	0.08118	0	0.35266	D	0.780069	B;P;P	0.44139	0.032;0.649;0.827	B;B;B	0.43251	0.005;0.097;0.413	T	0.45629	-0.9248	9	.	.	.	-9.2139	9.6934	0.40143	0.0:0.8393:0.0:0.1607	.	310;310;310	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	L	310;310;37;310	ENSP00000314038:R310L;ENSP00000363108:R310L;ENSP00000363098:R37L;ENSP00000354504:R310L	.	R	-	2	0	ASTN2	119016544	0.638000	0.27225	0.629000	0.29254	0.951000	0.60555	2.142000	0.42177	1.159000	0.42565	0.655000	0.94253	CGC		0.577	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		28	93	1	0	2.66e-16	5.23e-16	28	93				
BRINP1	1620	broad.mit.edu	37	9	122075568	122075568	+	Silent	SNP	G	G	A	rs202144700	byFrequency	TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:122075568G>A	ENST00000265922.3	-	2	527	c.66C>T	c.(64-66)ccC>ccT	p.P22P	BRINP1_ENST00000373964.2_Silent_p.P22P	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	22					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CCTGGTGGGAGGGCTGCACTG	0.512													G|||	2	0.000399361	0.0	0.0	5008	,	,		15532	0.002		0.0	False		,,,				2504	0.0					uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(64-66)CCC>CCT		deleted in bladder cancer 1 precursor		G		1,4405		0,1,2202	114.0	108.0	110.0		66	5.4	1.0	9		110	0,8600		0,0,4300	no	coding-synonymous	DBC1	NM_014618.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		22/762	122075568	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122075568G>A	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.66C>T	9.37:g.122075568G>A						DBC1_uc004bkd.2_Silent_p.P22P	p.P22P	NM_014618	NP_055433	O60477	DBC1_HUMAN			2	522	-			22					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.66C>T	CCDS6822.1																																																																																				0.512	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		43	54	0	0	0	0	43	54				
CDK5RAP2	55755	broad.mit.edu	37	9	123177356	123177356	+	Missense_Mutation	SNP	C	C	G	rs557006128		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:123177356C>G	ENST00000349780.4	-	28	4438	c.4259G>C	c.(4258-4260)cGg>cCg	p.R1420P	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1388P|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1420P|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1379P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1420					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)	p.R1420L(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAACTGTTTCCGTAGCTTCTC	0.408																																						uc004bkf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(4258-4260)CGG>CCG		CDK5 regulatory subunit associated protein 2							191.0	168.0	176.0					9																	123177356		2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123177356C>G	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.4259G>C	9.37:g.123177356C>G	ENSP00000343818:p.Arg1420Pro					CDK5RAP2_uc010mvi.2_Missense_Mutation_p.R429P|CDK5RAP2_uc004bke.2_Missense_Mutation_p.R705P|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.R1420P|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.R685P|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.R685P|CDK5RAP2_uc011lya.1_Missense_Mutation_p.R685P|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.R1190P|CDK5RAP2_uc004bki.2_Missense_Mutation_p.R1187P	p.R1420P	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN			28	4440	-			1420					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.4259G>C	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.726993	0.69074	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.81	3.96	0.45880	.	0.127878	0.34386	N	0.004005	T	0.61565	0.2357	M	0.84948	2.725	0.35965	D	0.834863	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.99;0.984;0.984;0.999;0.963;0.997	T	0.74266	-0.3721	10	0.87932	D	0	.	11.1927	0.48693	0.0:0.8556:0.0:0.1444	.	430;1189;1388;1420;1420;814	Q5JTU8;Q6MZT4;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;.;CK5P2_HUMAN;.	P	1388;1379;1420;1420;814;430;1192	ENSP00000354065:R1388P;ENSP00000352258:R1379P;ENSP00000343818:R1420P;ENSP00000353317:R1420P;ENSP00000400395:R814P;ENSP00000409941:R430P	ENSP00000341695:R1192P	R	-	2	0	CDK5RAP2	122217177	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	2.426000	0.44731	1.473000	0.48159	0.650000	0.86243	CGG		0.408	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		23	93	0	0	0	0	23	93				
CNTRL	11064	broad.mit.edu	37	9	123875817	123875817	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:123875817A>G	ENST00000373855.1	+	10	1420	c.1160A>G	c.(1159-1161)tAc>tGc	p.Y387C	CNTRL_ENST00000373865.2_Missense_Mutation_p.Y387C|CNTRL_ENST00000238341.5_Missense_Mutation_p.Y387C			Q7Z7A1	CNTRL_HUMAN	centriolin	387					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAAAGCCCTTACATTGGCAAA	0.358																																						uc004bkx.1		NA																	0					0						c.(1159-1161)TAC>TGC		centrosomal protein 110kDa							92.0	92.0	92.0					9																	123875817		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123875817A>G	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1160A>G	9.37:g.123875817A>G	ENSP00000362962:p.Tyr387Cys					CEP110_uc004bkw.2_Missense_Mutation_p.Y387C|CEP110_uc004bky.1_5'UTR	p.Y387C	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			8	1191	+			387					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.1160A>G	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860034	0.71834	.	.	ENSG00000119397	ENST00000373865;ENST00000373855;ENST00000238341;ENST00000454238	T;T	0.40225	1.04;1.04	6.16	5.0	0.66597	.	.	.	.	.	T	0.55114	0.1900	L	0.55481	1.735	0.38924	D	0.95779	D	0.76494	0.999	D	0.63488	0.915	T	0.56751	-0.7927	9	0.42905	T	0.14	.	11.7691	0.51947	0.8681:0.0:0.0:0.1319	.	387	Q7Z7A1	CNTRL_HUMAN	C	387	ENSP00000362962:Y387C;ENSP00000238341:Y387C	ENSP00000238341:Y387C	Y	+	2	0	CNTRL	122915638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.947000	0.75959	1.108000	0.41662	0.528000	0.53228	TAC		0.358	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		26	64	0	0	0	0	26	64				
RBM18	92400	broad.mit.edu	37	9	125004254	125004254	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:125004254T>G	ENST00000417201.3	-	6	622	c.482A>C	c.(481-483)tAt>tCt	p.Y161S	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	161							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						CGCTGCTGGATACTCTGCATC	0.408																																						uc004bma.2		NA																	0					0						c.(481-483)TAT>TCT		RNA binding motif protein 18							124.0	117.0	120.0					9																	125004254		2203	4300	6503	SO:0001583	missense	92400						nucleotide binding|RNA binding	g.chr9:125004254T>G	AK057676	CCDS6839.1	9q34.11	2013-02-12			ENSG00000119446	ENSG00000119446		"""RNA binding motif (RRM) containing"""	28413	protein-coding gene	gene with protein product						12477932	Standard	NM_033117		Approved	MGC2734	uc004bma.2	Q96H35	OTTHUMG00000020602	ENST00000417201.3:c.482A>C	9.37:g.125004254T>G	ENSP00000409315:p.Tyr161Ser					RBM18_uc004blz.2_RNA|RBM18_uc010mvy.2_RNA|RBM18_uc011lyp.1_RNA	p.Y161S	NM_033117	NP_149108	Q96H35	RBM18_HUMAN			6	648	-			161					B3KQ89	Missense_Mutation	SNP	ENST00000417201.3	37	c.482A>C	CCDS6839.1	.	.	.	.	.	.	.	.	.	.	T	9.764	1.170882	0.21621	.	.	ENSG00000119446	ENST00000417201	T	0.11385	2.78	5.53	5.53	0.82687	.	0.224090	0.47852	D	0.000218	T	0.07458	0.0188	N	0.22421	0.69	0.46478	D	0.99906	B	0.10296	0.003	B	0.06405	0.002	T	0.33727	-0.9857	10	0.20046	T	0.44	-10.4984	10.1311	0.42680	0.149:0.0:0.0:0.851	.	161	Q96H35	RBM18_HUMAN	S	161	ENSP00000409315:Y161S	ENSP00000409315:Y161S	Y	-	2	0	RBM18	124044075	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.667000	0.46808	2.102000	0.63906	0.402000	0.26972	TAT		0.408	RBM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053928.2	NM_033117		18	62	0	0	0	0	18	62				
PTGS1	5742	broad.mit.edu	37	9	125154751	125154751	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:125154751C>A	ENST00000362012.2	+	11	1733	c.1728C>A	c.(1726-1728)taC>taA	p.Y576*	PTGS1_ENST00000373698.5_Nonsense_Mutation_p.Y467*|PTGS1_ENST00000223423.4_Nonsense_Mutation_p.Y539*|PTGS1_ENST00000540753.1_Nonsense_Mutation_p.Y514*	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	576					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCTGTCCCTACGTTTCCTTCC	0.582																																						uc004bmg.1		NA																	0				ovary(1)|skin(1)	2						c.(1726-1728)TAC>TAA		prostaglandin-endoperoxide synthase 1 isoform 1	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)						105.0	92.0	96.0					9																	125154751		2203	4300	6503	SO:0001587	stop_gained	5742				cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr9:125154751C>A	M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1728C>A	9.37:g.125154751C>A	ENSP00000354612:p.Tyr576*					PTGS1_uc011lys.1_Nonsense_Mutation_p.Y514*|PTGS1_uc010mwb.1_Nonsense_Mutation_p.Y430*|PTGS1_uc004bmf.1_Nonsense_Mutation_p.Y539*|PTGS1_uc004bmh.1_Nonsense_Mutation_p.Y467*|PTGS1_uc011lyt.1_Nonsense_Mutation_p.Y467*	p.Y576*	NM_000962	NP_000953	P23219	PGH1_HUMAN			11	1863	+			576					A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Nonsense_Mutation	SNP	ENST00000362012.2	37	c.1728C>A	CCDS6842.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199862	0.58126	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	.	.	.	5.56	-7.56	0.01322	.	0.111999	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.1162	18.8865	0.92379	0.0:0.2879:0.0:0.7121	.	.	.	.	X	514;576;539;467	.	ENSP00000223423:Y539X	Y	+	3	2	PTGS1	124194572	0.000000	0.05858	0.446000	0.26920	0.606000	0.37113	-3.456000	0.00464	-2.007000	0.00956	-1.731000	0.00696	TAC		0.582	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053933.1			31	100	1	0	2.61e-14	4.98e-14	31	100				
OR1L6	392390	broad.mit.edu	37	9	125512443	125512443	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:125512443T>C	ENST00000373684.1	+	1	425	c.425T>C	c.(424-426)aTg>aCg	p.M142T	OR1L6_ENST00000304720.2_Missense_Mutation_p.M106T			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	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)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TACTTCTTTATGGCATTTGGG	0.488																																						uc011lzc.1		NA																	0					0						c.(424-426)ATG>ACG		olfactory receptor, family 1, subfamily L,							129.0	114.0	119.0					9																	125512443		2203	4300	6503	SO:0001583	missense	392390				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125512443T>C		CCDS35130.1, CCDS35130.2	9q33.2	2013-09-20			ENSG00000171459	ENSG00000171459		"""GPCR / Class A : Olfactory receptors"""	8218	protein-coding gene	gene with protein product				OR1L7			Standard	NM_001004453		Approved		uc022bna.1	Q8NGR2	OTTHUMG00000020621	ENST00000373684.1:c.425T>C	9.37:g.125512443T>C	ENSP00000362788:p.Met142Thr						p.M142T	NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN			1	425	+			142			Helical; Name=3; (Potential).		Q6IFM8|Q96R80	Missense_Mutation	SNP	ENST00000373684.1	37	c.425T>C		.	.	.	.	.	.	.	.	.	.	.	10.30	1.313351	0.23908	.	.	ENSG00000171459	ENST00000373684;ENST00000304720	T;T	0.01323	5.01;5.01	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.367963	0.26582	N	0.023570	T	0.01061	0.0035	N	0.13327	0.33	0.28848	N	0.896235	P	0.35174	0.488	B	0.32393	0.145	T	0.49986	-0.8880	10	0.35671	T	0.21	-8.5269	8.5744	0.33590	0.0:0.092:0.0:0.908	.	142	Q8NGR2	OR1L6_HUMAN	T	142;106	ENSP00000362788:M142T;ENSP00000304235:M106T	ENSP00000304235:M106T	M	+	2	0	OR1L6	124552264	0.000000	0.05858	1.000000	0.80357	0.788000	0.44548	-0.216000	0.09266	2.066000	0.61787	0.533000	0.62120	ATG		0.488	OR1L6-201	KNOWN	basic	protein_coding	protein_coding				34	148	0	0	0	0	34	148				
LRSAM1	90678	broad.mit.edu	37	9	130241717	130241717	+	Missense_Mutation	SNP	G	G	T	rs372357453		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:130241717G>T	ENST00000323301.4	+	12	1440	c.836G>T	c.(835-837)cGg>cTg	p.R279L	LRSAM1_ENST00000373322.1_Missense_Mutation_p.R279L|LRSAM1_ENST00000373324.4_Missense_Mutation_p.R279L|LRSAM1_ENST00000300417.6_Missense_Mutation_p.R279L|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	279					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CTGGGGCAGCGGGAGCACACC	0.602																																						uc004brb.1		NA																	0					0						c.(835-837)CGG>CTG		leucine rich repeat and sterile alpha motif							57.0	55.0	56.0					9																	130241717		2203	4300	6503	SO:0001583	missense	90678				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:130241717G>T	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.836G>T	9.37:g.130241717G>T	ENSP00000322937:p.Arg279Leu					LRSAM1_uc010mxk.1_Missense_Mutation_p.R279L|LRSAM1_uc004brc.1_Missense_Mutation_p.R279L|LRSAM1_uc004brd.1_Missense_Mutation_p.R279L|LRSAM1_uc004bre.1_5'UTR	p.R279L	NM_001005373	NP_001005373	Q6UWE0	LRSM1_HUMAN			13	1181	+			279			Potential.		Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	ENST00000323301.4	37	c.836G>T	CCDS6873.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.848799	0.91277	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	T;T;T;T	0.76578	1.34;-1.03;1.34;1.34	5.74	5.74	0.90152	Insulin-like (1);	0.051143	0.85682	D	0.000000	D	0.87224	0.6124	M	0.69823	2.125	0.53688	D	0.999971	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.987	D	0.85462	0.1167	10	0.36615	T	0.2	-15.9469	17.4111	0.87486	0.0:0.0:1.0:0.0	.	279;279	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	L	279	ENSP00000300417:R279L;ENSP00000362421:R279L;ENSP00000322937:R279L;ENSP00000362419:R279L	ENSP00000300417:R279L	R	+	2	0	LRSAM1	129281538	1.000000	0.71417	0.987000	0.45799	0.976000	0.68499	7.103000	0.77014	2.707000	0.92482	0.563000	0.77884	CGG		0.602	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054164.1	NM_138361		29	32	1	0	7.01e-11	1.27e-10	29	32				
SH2D3C	10044	broad.mit.edu	37	9	130506941	130506941	+	Silent	SNP	G	G	T	rs376156609		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:130506941G>T	ENST00000314830.8	-	7	1815	c.1702C>A	c.(1702-1704)Cgg>Agg	p.R568R	SH2D3C_ENST00000373276.3_Silent_p.R500R|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Silent_p.R408R|SH2D3C_ENST00000429553.1_Silent_p.R214R|SH2D3C_ENST00000420366.1_Silent_p.R410R|SH2D3C_ENST00000373277.4_Silent_p.R411R	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	568					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCCAGTGGCCGGTTATCCCTG	0.612																																						uc004bsc.2		NA																	0				ovary(1)	1						c.(1702-1704)CGG>AGG		SH2 domain containing 3C isoform a							90.0	91.0	91.0					9																	130506941		2203	4300	6503	SO:0001819	synonymous_variant	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130506941G>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.1702C>A	9.37:g.130506941G>T						SH2D3C_uc010mxo.2_Silent_p.R408R|SH2D3C_uc004bry.2_Silent_p.R410R|SH2D3C_uc004brz.3_Silent_p.R214R|SH2D3C_uc011mak.1_Silent_p.R214R|SH2D3C_uc004bsa.2_Silent_p.R411R|SH2D3C_uc004bsb.2_Silent_p.R500R	p.R568R	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			7	1844	-			568					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Silent	SNP	ENST00000314830.8	37	c.1702C>A	CCDS6877.1																																																																																				0.612	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		48	135	1	0	5.34e-22	1.1e-21	48	135				
LAMC3	10319	broad.mit.edu	37	9	133946978	133946978	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:133946978G>A	ENST00000361069.4	+	18	3310	c.3177G>A	c.(3175-3177)agG>agA	p.R1059R	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1059	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGGCCCCAAGGGGGGACGTCT	0.657																																						uc004caa.1		NA																	0				ovary(2)|pancreas(1)	3						c.(3175-3177)AGG>AGA		laminin, gamma 3 precursor							47.0	47.0	47.0					9																	133946978		2203	4300	6503	SO:0001819	synonymous_variant	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133946978G>A	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.3177G>A	9.37:g.133946978G>A							p.R1059R	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	18	3275	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	1059			Cell attachment site (Potential).|Domain II and I.		B1APX9|B1APY0|Q59H72	Silent	SNP	ENST00000361069.4	37	c.3177G>A	CCDS6938.1																																																																																				0.657	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059		26	38	0	0	0	0	26	38				
NUP214	8021	broad.mit.edu	37	9	134021593	134021593	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:134021593C>A	ENST00000359428.5	+	13	1991	c.1847C>A	c.(1846-1848)tCc>tAc	p.S616Y	RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.S605Y|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.S616Y|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	616	11 X 5 AA approximate repeats.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCTTCTGCCTCCAAGCCAGCT	0.567			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		0				breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(1846-1848)TCC>TAC		nucleoporin 214kDa							337.0	306.0	317.0					9																	134021593		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134021593C>A	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1847C>A	9.37:g.134021593C>A	ENSP00000352400:p.Ser616Tyr					NUP214_uc004cah.2_Missense_Mutation_p.S605Y|NUP214_uc004cai.2_Missense_Mutation_p.S45Y|NUP214_uc004caf.1_Missense_Mutation_p.S605Y|NUP214_uc010mzf.2_5'UTR	p.S616Y	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	13	1958	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	616			11 X 5 AA approximate repeats.		A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1847C>A	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466596	0.43839	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605	T;T;T	0.34859	1.34;1.34;1.36	4.87	3.96	0.45880	.	0.169770	0.28425	N	0.015388	T	0.26810	0.0656	N	0.08118	0	0.27935	N	0.937728	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.56700	0.804;0.804;0.804	T	0.12630	-1.0540	10	0.02654	T	1	-9.8857	12.233	0.54499	0.0:0.8281:0.1719:0.0	.	209;605;616	Q5JUP9;P35658-4;P35658	.;.;NU214_HUMAN	Y	616;605;616;605;209;45	ENSP00000352400:S616Y;ENSP00000396576:S605Y;ENSP00000405014:S616Y	ENSP00000352400:S616Y	S	+	2	0	NUP214	133011414	1.000000	0.71417	0.985000	0.45067	0.052000	0.14988	2.818000	0.48041	1.258000	0.44101	-0.479000	0.04858	TCC		0.567	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		231	318	1	0	1.96e-89	4.2e-89	231	318				
PRRC2B	84726	broad.mit.edu	37	9	134350269	134350269	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:134350269G>T	ENST00000357304.4	+	15	2808	c.2753G>T	c.(2752-2754)tGg>tTg	p.W918L	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	918							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GAGCCTGAATGGACTCCCGAG	0.642																																						uc004can.3		NA																	0					0						c.(2752-2754)TGG>TTG		HLA-B associated transcript 2-like							9.0	11.0	10.0					9																	134350269		1902	4114	6016	SO:0001583	missense	84726						protein binding	g.chr9:134350269G>T	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.2753G>T	9.37:g.134350269G>T	ENSP00000349856:p.Trp918Leu					BAT2L1_uc010mzj.1_Missense_Mutation_p.W501L|BAT2L1_uc004cao.3_Missense_Mutation_p.W276L	p.W918L	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN			15	2808	+			918					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	c.2753G>T	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035284	0.54896	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.12255	2.7	5.61	5.61	0.85477	.	.	.	.	.	T	0.26521	0.0648	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.994	T	0.01583	-1.1319	8	.	.	.	.	18.613	0.91293	0.0:0.0:1.0:0.0	.	214;918	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	L	918;214	ENSP00000349856:W918L	.	W	+	2	0	PRRC2B	133340090	1.000000	0.71417	0.990000	0.47175	0.055000	0.15305	5.181000	0.65054	2.631000	0.89168	0.655000	0.94253	TGG		0.642	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	8	1	0	5.18e-06	8.36e-06	8	8				
POMT1	10585	broad.mit.edu	37	9	134394277	134394277	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:134394277G>A	ENST00000372228.3	+	15	1664	c.1485G>A	c.(1483-1485)ggG>ggA	p.G495G	POMT1_ENST00000341012.7_Silent_p.G419G|RP11-334J6.6_ENST00000415423.1_RNA|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000541219.1_Silent_p.G251G|POMT1_ENST00000354713.4_Silent_p.G443G|POMT1_ENST00000423007.1_Silent_p.G473G|POMT1_ENST00000404875.2_Silent_p.G356G|POMT1_ENST00000402686.3_Silent_p.G473G|POMT1_ENST00000419118.2_Silent_p.G321G	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	495	MIR 3. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		AGATCGTCGGGGAGAAGCTGT	0.677																																						uc004cav.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1483-1485)GGG>GGA		protein-O-mannosyltransferase 1 isoform a							52.0	51.0	51.0					9																	134394277		2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134394277G>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1485G>A	9.37:g.134394277G>A						POMT1_uc004cax.2_Silent_p.G473G|POMT1_uc011mcj.1_Silent_p.G251G|POMT1_uc004cau.2_Silent_p.G473G|POMT1_uc004caw.2_Silent_p.G419G|POMT1_uc011mck.1_Silent_p.G356G|POMT1_uc011mcl.1_Silent_p.G321G|POMT1_uc011mcm.1_Silent_p.G443G|POMT1_uc011mcn.1_3'UTR	p.G495G	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	15	1687	+		Myeloproliferative disorder(178;0.204)	495			MIR 3.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.1485G>A	CCDS6943.1																																																																																				0.677	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		22	47	0	0	0	0	22	47				
SURF2	6835	broad.mit.edu	37	9	136226863	136226863	+	Silent	SNP	T	T	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:136226863T>C	ENST00000371964.4	+	4	416	c.375T>C	c.(373-375)ccT>ccC	p.P125P	SURF2_ENST00000495524.1_3'UTR	NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	125						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTACGTGCCTGCCTGCCTGG	0.647																																						uc004cdi.2		NA																	0					0						c.(373-375)CCT>CCC		surfeit 2							74.0	63.0	67.0					9																	136226863		2203	4300	6503	SO:0001819	synonymous_variant	6835						protein binding	g.chr9:136226863T>C		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.375T>C	9.37:g.136226863T>C							p.P125P	NM_017503	NP_059973	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	4	423	+			125					Q6IBP9|Q96CD1	Silent	SNP	ENST00000371964.4	37	c.375T>C	CCDS6967.1																																																																																				0.647	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		9	23	0	0	0	0	9	23				
SEC16A	9919	broad.mit.edu	37	9	139353630	139353630	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:139353630C>G	ENST00000371706.3	-	15	4864	c.4831G>C	c.(4831-4833)Gcc>Ccc	p.A1611P	SEC16A_ENST00000431893.2_Missense_Mutation_p.A1611P|SEC16A_ENST00000313050.7_Missense_Mutation_p.A1789P|SEC16A_ENST00000290037.6_Missense_Mutation_p.A1611P			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1611					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		AGGGACTGGGCGTACTCATAG	0.522																																						uc004chx.2		NA																	0					0						c.(5365-5367)GCC>CCC		SEC16 homolog A							95.0	101.0	99.0					9																	139353630		1904	4122	6026	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139353630C>G	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4831G>C	9.37:g.139353630C>G	ENSP00000360771:p.Ala1611Pro					SEC16A_uc004chu.2_5'Flank|SEC16A_uc004chv.3_Missense_Mutation_p.A1179P|SEC16A_uc004chw.2_Missense_Mutation_p.A1789P|SEC16A_uc010nbn.2_Missense_Mutation_p.A1789P	p.A1789P	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	17	5674	-		Myeloproliferative disorder(178;0.0511)	1611					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.5365G>C		.	.	.	.	.	.	.	.	.	.	C	18.51	3.639255	0.67244	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.65364	0.67;-0.15;0.31;0.66;0.65;0.66	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.83963	0.5368	M	0.91300	3.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.87332	0.2325	10	0.72032	D	0.01	-26.6171	18.2816	0.90099	0.0:1.0:0.0:0.0	.	1789;1611;1611;1179	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	P	1789;183;511;1611;1611;1611;1179	ENSP00000325827:A1789P;ENSP00000277537:A183P;ENSP00000403525:A511P;ENSP00000360771:A1611P;ENSP00000290037:A1611P;ENSP00000387583:A1611P	ENSP00000277537:A183P	A	-	1	0	SEC16A	138473451	1.000000	0.71417	0.173000	0.22940	0.035000	0.12851	7.699000	0.84547	2.565000	0.86533	0.549000	0.68633	GCC		0.522	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		60	65	0	0	0	0	60	65				
SHOX	6473	broad.mit.edu	37	X	601734	601734	+	Splice_Site	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:601734G>T	ENST00000554971.1	+	4	636	c.545G>T	c.(544-546)gGc>gTc	p.G182V	SHOX_ENST00000334060.3_Splice_Site_p.G182V|SHOX_ENST00000381575.1_Splice_Site_p.G182V|SHOX_ENST00000381578.1_Splice_Site_p.G182V			O15266	SHOX_HUMAN	short stature homeobox	182					skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGACACAGGCGTCATCTTG	0.602																																					Ovarian(95;18 1419 12424 14056 28266)	uc004cph.1		NA																	0					0						c.(544-546)GGC>GTC		short stature homeobox isoform SHOXa							219.0	196.0	204.0					X																	601734		2203	4296	6499	SO:0001630	splice_region_variant	6473				skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:601734G>T	U82668	CCDS14106.1, CCDS14107.1	Xp22.33 and Yp11.32	2014-07-16			ENSG00000185960	ENSG00000185960		"""Pseudoautosomal regions / PAR1"", ""Homeoboxes / PRD class"""	10853	protein-coding gene	gene with protein product		312865, 400020				9259282, 9140395	Standard	XR_247282		Approved	PHOG, GCFX, SS, SHOXY	uc004cph.1	O15266	OTTHUMG00000021053	ENST00000554971.1:c.545-1G>T	X.37:g.601734G>T						SHOX_uc004cpi.2_Missense_Mutation_p.G182V	p.G182V	NM_000451	NP_000442	O15266	SHOX_HUMAN			5	1236	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	182					O00412|O00413|O15267	Missense_Mutation	SNP	ENST00000554971.1	37	c.545G>T	CCDS14107.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522934	0.27211	.	.	ENSG00000185960	ENST00000334060;ENST00000381578;ENST00000554971;ENST00000381575	D;D;D;D	0.95103	-3.61;-3.5;-3.5;-3.61	1.53	1.53	0.23141	Homeodomain-like (1);	0.000000	0.85682	U	0.000000	D	0.93926	0.8056	L	0.55990	1.75	0.27997	N	0.93542	P;P	0.50369	0.862;0.934	P;P	0.53809	0.735;0.617	D	0.88648	0.3180	9	.	.	.	.	11.5022	0.50444	0.0:0.0:1.0:0.0	.	182;182	O15266-2;O15266	.;SHOX_HUMAN	V	182	ENSP00000335505:G182V;ENSP00000370990:G182V;ENSP00000452016:G182V;ENSP00000370987:G182V	.	G	+	2	0	SHOX	521734	1.000000	0.71417	0.135000	0.22099	0.023000	0.10783	7.101000	0.76997	0.821000	0.34540	0.115000	0.15696	GGC		0.602	SHOX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411999.3	NM_000451	Missense_Mutation	18	49	1	0	8.28e-16	1.62e-15	18	49				
TLR7	51284	broad.mit.edu	37	X	12906382	12906382	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:12906382C>G	ENST00000380659.3	+	3	2894	c.2755C>G	c.(2755-2757)Cca>Gca	p.P919A		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	919	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	ACTGGAAGACCCAAGAGAGAA	0.458																																						uc004cvc.2		NA																	0				ovary(2)|lung(2)|breast(1)	5						c.(2755-2757)CCA>GCA		toll-like receptor 7 precursor	Imiquimod(DB00724)						101.0	104.0	103.0					X																	12906382		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906382C>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2755C>G	X.37:g.12906382C>G	ENSP00000370034:p.Pro919Ala						p.P919A	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2894	+			919			TIR.|Cytoplasmic (Potential).		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.2755C>G	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	4.289	0.052760	0.08291	.	.	ENSG00000196664	ENST00000380659	T	0.06933	3.24	5.75	5.75	0.90469	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.408961	0.25112	N	0.033057	T	0.06917	0.0176	N	0.19112	0.55	0.27204	N	0.960097	B	0.19200	0.034	B	0.26614	0.071	T	0.34179	-0.9839	10	0.11794	T	0.64	.	15.1636	0.72803	0.0:0.8625:0.1375:0.0	.	919	Q9NYK1	TLR7_HUMAN	A	919	ENSP00000370034:P919A	ENSP00000370034:P919A	P	+	1	0	TLR7	12816303	0.800000	0.28916	0.940000	0.37924	0.993000	0.82548	2.032000	0.41127	2.419000	0.82065	0.600000	0.82982	CCA		0.458	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		56	47	0	0	0	0	56	47				
SMS	6611	broad.mit.edu	37	X	22010722	22010722	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:22010722G>A	ENST00000404933.2	+	10	1205	c.953G>A	c.(952-954)tGt>tAt	p.C318Y	SMS_ENST00000379404.1_Missense_Mutation_p.C265Y|SMS_ENST00000415881.2_Missense_Mutation_p.C222Y	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	318	PABS. {ECO:0000255|PROSITE- ProRule:PRU00354}.				cellular nitrogen compound metabolic process (GO:0034641)|methionine metabolic process (GO:0006555)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	spermidine synthase activity (GO:0004766)|spermine synthase activity (GO:0016768)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TAGGGGAACTGTGTCAATCTG	0.453																																						uc004dag.2		NA																	0				ovary(1)	1						c.(952-954)TGT>TAT		spermine synthase	Spermine(DB00127)						101.0	79.0	87.0					X																	22010722		2203	4300	6503	SO:0001583	missense	6611				methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	g.chrX:22010722G>A	AD001528	CCDS14203.1, CCDS59161.1	Xp22.1	2014-05-16			ENSG00000102172	ENSG00000102172			11123	protein-coding gene	gene with protein product		300105	"""Snyder-Robinson X-linked mental retardation syndrome"""	SRS		7546290, 9299240, 14508504	Standard	NM_004595		Approved	SPMSY, SpS, MRSR	uc004dag.4	P52788	OTTHUMG00000021239	ENST00000404933.2:c.953G>A	X.37:g.22010722G>A	ENSP00000385746:p.Cys318Tyr					SMS_uc010nfs.2_RNA|SMS_uc010nft.2_Intron	p.C318Y	NM_004595	NP_004586	P52788	SPSY_HUMAN			10	1054	+			318					A6NHA7|A6NI34|B2R9M0|O00544|Q9UQS1	Missense_Mutation	SNP	ENST00000404933.2	37	c.953G>A	CCDS14203.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459274	0.63401	.	.	ENSG00000102172	ENST00000404933;ENST00000379404;ENST00000415881	T;T;T	0.76968	-1.06;-1.06;-1.06	5.57	5.57	0.84162	.	0.132548	0.64402	D	0.000001	D	0.86764	0.6011	M	0.65975	2.015	0.47308	D	0.999383	D	0.76494	0.999	D	0.65987	0.94	D	0.87483	0.2422	10	0.59425	D	0.04	-4.2422	18.5542	0.91077	0.0:0.0:1.0:0.0	.	318	P52788	SPSY_HUMAN	Y	318;265;222	ENSP00000385746:C318Y;ENSP00000368714:C265Y;ENSP00000388906:C222Y	ENSP00000368714:C265Y	C	+	2	0	SMS	21920643	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	6.907000	0.75724	2.324000	0.78689	0.415000	0.27848	TGT		0.453	SMS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056032.1	NM_004595		4	7	0	0	0	0	4	7				
DCAF8L2	347442	broad.mit.edu	37	X	27766738	27766738	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:27766738G>T	ENST00000451261.2	+	5	2125	c.1726G>T	c.(1726-1728)Gac>Tac	p.D576Y		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	576										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CAGCCTGTTTGACCAGTACAT	0.498																																						uc011mjy.1		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1726-1728)GAC>TAC		DDB1 and CUL4 associated factor 8-like 2							140.0	100.0	112.0					X																	27766738		692	1591	2283	SO:0001583	missense	347442							g.chrX:27766738G>T		CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1726G>T	X.37:g.27766738G>T	ENSP00000462745:p.Asp576Tyr						p.D576Y	NM_001136533	NP_001130005					1	1813	+								B2RXH9|J3KT06	Missense_Mutation	SNP	ENST00000451261.2	37	c.1726G>T	CCDS59162.1																																																																																				0.498	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354		11	9	1	0	1.59e-06	2.59e-06	11	9				
MAGEB10	139422	broad.mit.edu	37	X	27839501	27839501	+	Silent	SNP	A	A	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:27839501A>T	ENST00000356790.2	+	3	323	c.78A>T	c.(76-78)atA>atT	p.I26I		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	26										NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						AAGATTTGATAGATGCTCTGG	0.512																																						uc004dbw.2		NA																	0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(76-78)ATA>ATT		melanoma antigen family B, 10							58.0	57.0	58.0					X																	27839501		2202	4300	6502	SO:0001819	synonymous_variant	139422							g.chrX:27839501A>T		CCDS35221.1	Xp21.3	2008-02-05			ENSG00000177689	ENSG00000177689			25377	protein-coding gene	gene with protein product		300761				11454705	Standard	NM_182506		Approved	FLJ32965	uc004dbw.3	Q96LZ2	OTTHUMG00000046084	ENST00000356790.2:c.78A>T	X.37:g.27839501A>T							p.I26I	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN			3	305	+			26					Q494Y6|Q494Y7|Q9BZ78	Silent	SNP	ENST00000356790.2	37	c.78A>T	CCDS35221.1																																																																																				0.512	MAGEB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106216.1	NM_182506		18	20	0	0	0	0	18	20				
IL1RAPL1	11141	broad.mit.edu	37	X	29973704	29973704	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:29973704C>G	ENST00000378993.1	+	11	2531	c.1858C>G	c.(1858-1860)Cgt>Ggt	p.R620G	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R620G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	620	Interaction with NCS1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R620S(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTCACAAATGCGTCAGAAACA	0.532																																						uc004dby.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(1858-1860)CGT>GGT		interleukin 1 receptor accessory protein-like 1							91.0	42.0	59.0					X																	29973704		2202	4299	6501	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29973704C>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.1858C>G	X.37:g.29973704C>G	ENSP00000368278:p.Arg620Gly						p.R620G	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			11	2366	+			620			Cytoplasmic (Potential).|Interaction with NCS1.		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.1858C>G	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876198	0.33162	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.04502	3.61;3.61	5.12	5.12	0.69794	.	0.049571	0.85682	D	0.000000	T	0.08088	0.0202	L	0.60455	1.87	0.51482	D	0.99992	P	0.46987	0.888	B	0.41202	0.35	T	0.23797	-1.0178	9	.	.	.	.	15.9136	0.79491	0.0:1.0:0.0:0.0	.	620	Q9NZN1	IRPL1_HUMAN	G	620	ENSP00000368278:R620G;ENSP00000305200:R620G	.	R	+	1	0	IL1RAPL1	29883625	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.553000	0.60753	2.121000	0.65114	0.529000	0.55759	CGT		0.532	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		7	10	0	0	0	0	7	10				
NR0B1	190	broad.mit.edu	37	X	30326348	30326348	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:30326348T>G	ENST00000378970.4	-	1	1367	c.1133A>C	c.(1132-1134)tAc>tCc	p.Y378S	NR0B1_ENST00000453287.1_Missense_Mutation_p.Y378S|NR0B1_ENST00000378963.1_Missense_Mutation_p.Y83S	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	378	Ligand-binding. {ECO:0000250}.				adrenal gland development (GO:0030325)|gene expression (GO:0010467)|gonad development (GO:0008406)|hypothalamus development (GO:0021854)|intracellular receptor signaling pathway (GO:0030522)|Leydig cell differentiation (GO:0033327)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of cell differentiation (GO:0045596)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|protein localization (GO:0008104)|response to immobilization stress (GO:0035902)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|steroid biosynthetic process (GO:0006694)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	AF-2 domain binding (GO:0050682)|DNA binding (GO:0003677)|DNA hairpin binding (GO:0032448)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|steroid hormone receptor binding (GO:0035258)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAGGTAGGCGTACTCCTTGGT	0.587											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dcf.3		NA																	0				ovary(1)|lung(1)	2						c.(1132-1134)TAC>TCC		nuclear receptor subfamily 0, group B, member 1	Dexamethasone(DB01234)|Tretinoin(DB00755)						84.0	75.0	78.0					X																	30326348		2202	4300	6502	SO:0001583	missense	190				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	g.chrX:30326348T>G	S74720	CCDS14223.1	Xp21.3	2014-06-28			ENSG00000169297	ENSG00000169297		"""Nuclear hormone receptors"""	7960	protein-coding gene	gene with protein product		300473	"""dosage-sensitive sex reversal"""	AHC, DSS		1301166, 10412368	Standard	NM_000475		Approved	DAX1, AHCH	uc004dcf.4	P51843	OTTHUMG00000021323	ENST00000378970.4:c.1133A>C	X.37:g.30326348T>G	ENSP00000368253:p.Tyr378Ser		OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	816		p.Y378S	NM_000475	NP_000466	P51843	NR0B1_HUMAN			1	1148	-			378			Ligand-binding (By similarity).		Q96F69	Missense_Mutation	SNP	ENST00000378970.4	37	c.1133A>C	CCDS14223.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.074812	0.76415	.	.	ENSG00000169297	ENST00000378970;ENST00000378963;ENST00000453287	D;D;D	0.97404	-4.37;-2.23;-4.37	5.81	5.81	0.92471	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98544	0.9514	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99601	1.0978	10	0.87932	D	0	-9.7472	15.096	0.72235	0.0:0.0:0.0:1.0	.	378	P51843	NR0B1_HUMAN	S	378;83;378	ENSP00000368253:Y378S;ENSP00000368246:Y83S;ENSP00000396403:Y378S	ENSP00000368246:Y83S	Y	-	2	0	NR0B1	30236269	1.000000	0.71417	0.984000	0.44739	0.890000	0.51754	5.868000	0.69605	1.947000	0.56498	0.486000	0.48141	TAC		0.587	NR0B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056161.1	NM_000475		20	22	0	0	0	0	20	22				
PPP1R3F	89801	broad.mit.edu	37	X	49142667	49142667	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:49142667G>A	ENST00000055335.6	+	4	1531	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A	PPP1R3F_ENST00000376188.1_Silent_p.A159A|PPP1R3F_ENST00000466508.1_Silent_p.A159A|PPP1R3F_ENST00000495799.1_Silent_p.A159A|PPP1R3F_ENST00000438316.1_Silent_p.A176A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	505					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CTGTGGCTGCGGGTGGGGCAG	0.657																																						uc004dnh.1		NA																	0				ovary(2)|skin(1)	3						c.(1513-1515)GCG>GCA		protein phosphatase 1, regulatory (inhibitor)							10.0	11.0	10.0					X																	49142667		2152	4181	6333	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49142667G>A		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.1515G>A	X.37:g.49142667G>A						PPP1R3F_uc011mnd.1_Silent_p.A176A|PPP1R3F_uc004dni.2_Silent_p.A159A|PPP1R3F_uc004dnj.1_Silent_p.A159A	p.A505A	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			4	1531	+	Ovarian(276;0.236)		505			Extracellular (Potential).		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.1515G>A	CCDS35254.1																																																																																				0.657	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		8	2	0	0	0	0	8	2				
CCNB3	85417	broad.mit.edu	37	X	50052855	50052855	+	Silent	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:50052855T>A	ENST00000376042.1	+	6	1984	c.1686T>A	c.(1684-1686)tcT>tcA	p.S562S	CCNB3_ENST00000276014.7_Silent_p.S562S|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	562					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATAAGAATTCTTTCTTTATGG	0.373																																						uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(1684-1686)TCT>TCA		cyclin B3 isoform 3							38.0	34.0	35.0					X																	50052855		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052855T>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1686T>A	X.37:g.50052855T>A						CCNB3_uc004doy.2_Silent_p.S562S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.S562S	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	1984	+	Ovarian(276;0.236)		562					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.1686T>A	CCDS14331.1																																																																																				0.373	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			10	10	0	0	0	0	10	10				
CCNB3	85417	broad.mit.edu	37	X	50053222	50053222	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:50053222A>C	ENST00000376042.1	+	6	2351	c.2053A>C	c.(2053-2055)Aaa>Caa	p.K685Q	CCNB3_ENST00000276014.7_Missense_Mutation_p.K685Q|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	685					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GCATACCAACAAAAGTGGGTC	0.463																																						uc004dox.3		NA																	0				ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(2053-2055)AAA>CAA		cyclin B3 isoform 3							30.0	26.0	27.0					X																	50053222		2202	4299	6501	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053222A>C	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2053A>C	X.37:g.50053222A>C	ENSP00000365210:p.Lys685Gln					CCNB3_uc004doy.2_Missense_Mutation_p.K685Q|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.K685Q	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	2351	+	Ovarian(276;0.236)		685					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.2053A>C	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	A	12.11	1.841038	0.32513	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.34072	1.38;1.38	4.19	0.5	0.16919	.	.	.	.	.	T	0.31606	0.0802	L	0.55481	1.735	0.09310	N	1	P	0.50943	0.94	B	0.43680	0.427	T	0.14699	-1.0463	8	.	.	.	.	5.8146	0.18486	0.629:0.0:0.371:0.0	.	685	Q8WWL7	CCNB3_HUMAN	Q	685	ENSP00000365210:K685Q;ENSP00000276014:K685Q	.	K	+	1	0	CCNB3	50069962	0.000000	0.05858	0.000000	0.03702	0.189000	0.23516	0.022000	0.13511	-0.018000	0.14079	0.486000	0.48141	AAA		0.463	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			10	10	0	0	0	0	10	10				
TRO	7216	broad.mit.edu	37	X	54949662	54949662	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:54949662A>G	ENST00000173898.7	+	3	809	c.697A>G	c.(697-699)Acc>Gcc	p.T233A	TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.T233A|TRO_ENST00000375041.2_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.T233A|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	233					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCATACAGCTACCACCCAAGG	0.512																																						uc004dtq.2		NA																	0				ovary(1)	1						c.(697-699)ACC>GCC		trophinin isoform 5							49.0	52.0	51.0					X																	54949662		2119	4209	6328	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54949662A>G	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.697A>G	X.37:g.54949662A>G	ENSP00000173898:p.Thr233Ala					TRO_uc011moj.1_Missense_Mutation_p.T176A|TRO_uc004dts.2_Missense_Mutation_p.T233A|TRO_uc004dtr.2_Missense_Mutation_p.T233A|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Intron|TRO_uc004dtw.2_Intron|TRO_uc004dtx.2_5'Flank	p.T233A	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			3	804	+			233					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.697A>G	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.587820	0.00128	.	.	ENSG00000067445	ENST00000411534;ENST00000430420;ENST00000173898;ENST00000319167;ENST00000375022	T;T;T;T;T	0.60920	0.15;0.39;1.02;3.64;3.64	3.03	1.84	0.25277	.	.	.	.	.	T	0.30448	0.0765	N	0.19112	0.55	0.09310	N	1	B;B	0.29162	0.004;0.235	B;B	0.23018	0.004;0.043	T	0.25328	-1.0135	9	0.02654	T	1	.	4.2435	0.10660	0.8313:0.0:0.1687:0.0	.	233;233	Q96SX2;Q12816	.;TROP_HUMAN	A	189;189;233;233;233	ENSP00000388947:T189A;ENSP00000411717:T189A;ENSP00000173898:T233A;ENSP00000318278:T233A;ENSP00000364162:T233A	ENSP00000173898:T233A	T	+	1	0	TRO	54966387	0.020000	0.18652	0.017000	0.16124	0.050000	0.14768	0.845000	0.27668	0.402000	0.25451	0.409000	0.27619	ACC		0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		23	11	0	0	0	0	23	11				
TBX22	50945	broad.mit.edu	37	X	79286337	79286337	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:79286337T>G	ENST00000373294.5	+	8	1318	c.1290T>G	c.(1288-1290)agT>agG	p.S430R	TBX22_ENST00000442340.1_Missense_Mutation_p.S310R|TBX22_ENST00000373291.1_Missense_Mutation_p.S310R|TBX22_ENST00000373296.3_Missense_Mutation_p.S430R	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	430					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAGACTCCAGTGATCAGTATC	0.433																																						uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(1288-1290)AGT>AGG		T-box 22 isoform 1							132.0	126.0	128.0					X																	79286337		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79286337T>G	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.1290T>G	X.37:g.79286337T>G	ENSP00000362390:p.Ser430Arg					TBX22_uc004edi.1_Missense_Mutation_p.S310R|TBX22_uc004edj.1_Missense_Mutation_p.S430R	p.S430R	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			9	1424	+			430					Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.1290T>G	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	T	0.223	-1.027027	0.02045	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	4.12	2.94	0.34122	.	14.083600	0.00166	N	0.000000	T	0.64757	0.2627	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46091	-0.9216	10	0.15499	T	0.54	.	3.2265	0.06734	0.0:0.2291:0.2112:0.5597	.	430	Q9Y458	TBX22_HUMAN	R	430;310;430;310	ENSP00000362393:S430R;ENSP00000396394:S310R;ENSP00000362390:S430R;ENSP00000362388:S310R	ENSP00000362388:S310R	S	+	3	2	TBX22	79172993	0.556000	0.26538	0.013000	0.15412	0.004000	0.04260	0.447000	0.21710	0.474000	0.27392	0.417000	0.27973	AGT		0.433	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		41	36	0	0	0	0	41	36				
CSTF2	1478	broad.mit.edu	37	X	100088319	100088319	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:100088319G>T	ENST00000372972.2	+	11	1374	c.1358G>T	c.(1357-1359)cGt>cTt	p.R453L	CSTF2_ENST00000415585.2_Missense_Mutation_p.R473L	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	453	12 X 5 AA tandem repeats of M-E-A-R-[AG].				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R453H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						ATGGAGGCCCGTGCAATGGAA	0.612																																						uc004egh.2		NA																	1	Substitution - Missense(1)		stomach(1)	skin(1)	1						c.(1357-1359)CGT>CTT		cleavage stimulation factor subunit 2							46.0	38.0	41.0					X																	100088319		2203	4300	6503	SO:0001583	missense	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|protein binding|RNA binding	g.chrX:100088319G>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.1358G>T	X.37:g.100088319G>T	ENSP00000362063:p.Arg453Leu					CSTF2_uc010nnd.2_Missense_Mutation_p.R473L|CSTF2_uc004egi.2_Missense_Mutation_p.R436L	p.R453L	NM_001325	NP_001316	P33240	CSTF2_HUMAN			11	1416	+			453			9.|12 X 5 AA tandem repeats of M-E-A-R-[AG].		Q5H951|Q6LA74|Q8N502	Missense_Mutation	SNP	ENST00000372972.2	37	c.1358G>T	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590417	0.86851	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320	T;T	0.13307	2.6;2.65	4.67	4.67	0.58626	.	0.000000	0.35525	U	0.003157	T	0.26846	0.0657	L	0.43152	1.355	0.40731	D	0.98274	D;D;D	0.71674	0.998;0.997;0.995	D;D;D	0.75484	0.985;0.986;0.968	T	0.05257	-1.0896	10	0.09338	T	0.73	-6.1789	16.8853	0.86074	0.0:0.0:1.0:0.0	.	473;436;453	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	L	473;453;429	ENSP00000387996:R473L;ENSP00000362063:R453L	ENSP00000362063:R453L	R	+	2	0	CSTF2	99974975	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.397000	0.79903	1.902000	0.55061	0.506000	0.49869	CGT		0.612	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325		5	5	1	0	1.02e-07	1.73e-07	5	5				
ESX1	80712	broad.mit.edu	37	X	103495025	103495025	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:103495025C>A	ENST00000372588.4	-	4	1188	c.1105G>T	c.(1105-1107)Ggg>Tgg	p.G369W		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	369	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						ATGGGCGGCCCGGGTGGCAGA	0.701																																					Pancreas(200;1705 2227 25194 28471 45274)	uc004ely.2		NA																	0				ovary(1)	1						c.(1105-1107)GGG>TGG		extraembryonic, spermatogenesis, homeobox							19.0	19.0	19.0					X																	103495025		2199	4299	6498	SO:0001583	missense	80712				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:103495025C>A	AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1105G>T	X.37:g.103495025C>A	ENSP00000361669:p.Gly369Trp						p.G369W	NM_153448	NP_703149	Q8N693	ESX1_HUMAN			4	1163	-			369			15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.|14.		B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	c.1105G>T	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	C	6.923	0.539941	0.13250	.	.	ENSG00000123576	ENST00000372588	T	0.79454	-1.27	2.97	1.06	0.20224	.	.	.	.	.	T	0.74374	0.3708	L	0.36672	1.1	0.09310	N	1	D	0.63880	0.993	P	0.54590	0.756	T	0.63484	-0.6627	9	0.87932	D	0	1.544	5.0995	0.14753	0.1625:0.6082:0.0:0.2293	.	369	Q8N693	ESX1_HUMAN	W	369	ENSP00000361669:G369W	ENSP00000361669:G369W	G	-	1	0	ESX1	103381681	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-3.993000	0.00318	-0.486000	0.06744	-1.712000	0.00714	GGG		0.701	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448		11	11	1	0	0.000673444	0.0010017	11	11				
TRPC5	7224	broad.mit.edu	37	X	111078301	111078301	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:111078301G>T	ENST00000262839.2	-	7	2662	c.1744C>A	c.(1744-1746)Ctt>Att	p.L582I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	582					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGATTTAAAAGGCCAAATACA	0.398																																						uc004epl.1		NA																	0				urinary_tract(1)	1						c.(1744-1746)CTT>ATT		transient receptor potential cation channel,							236.0	230.0	232.0					X																	111078301		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111078301G>T	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1744C>A	X.37:g.111078301G>T	ENSP00000262839:p.Leu582Ile					TRPC5_uc004epm.1_Missense_Mutation_p.L582I	p.L582I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			7	2663	-			582			Extracellular (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.1744C>A	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.890975	0.91889	.	.	ENSG00000072315	ENST00000262839	D	0.98474	-4.95	5.56	5.56	0.83823	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98614	0.9536	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.99880	1.1112	10	0.59425	D	0.04	-12.6273	18.5256	0.90971	0.0:0.0:1.0:0.0	.	583;582	Q59G51;Q9UL62	.;TRPC5_HUMAN	I	582	ENSP00000262839:L582I	ENSP00000262839:L582I	L	-	1	0	TRPC5	110964957	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.832000	0.62759	2.318000	0.78349	0.544000	0.68410	CTT		0.398	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		110	65	1	0	1.94e-58	4.15e-58	110	65				
TENM1	10178	broad.mit.edu	37	X	123805537	123805537	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:123805537T>A	ENST00000371130.3	-	6	1227	c.1164A>T	c.(1162-1164)aaA>aaT	p.K388N	TENM1_ENST00000422452.2_Missense_Mutation_p.K388N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	388					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGTACCTTTTTTCTCTGATT	0.373																																						uc004euj.2		NA																	0				ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1162-1164)AAA>AAT		odz, odd Oz/ten-m homolog 1 isoform 3							118.0	106.0	110.0					X																	123805537		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123805537T>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1164A>T	X.37:g.123805537T>A	ENSP00000360171:p.Lys388Asn					ODZ1_uc011muj.1_Missense_Mutation_p.K387N|ODZ1_uc010nqy.2_Missense_Mutation_p.K388N	p.K388N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			6	1228	-			388			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1164A>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414746	0.62511	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.29142	1.58;1.58	5.97	5.97	0.96955	.	0.140407	0.48286	D	0.000194	T	0.23532	0.0569	L	0.47716	1.5	0.58432	D	0.999992	P;P;P	0.48230	0.842;0.842;0.907	B;B;B	0.37780	0.185;0.185;0.258	T	0.05835	-1.0861	10	0.19590	T	0.45	.	10.4103	0.44289	0.0:0.076:0.0:0.924	.	387;388;388	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	388	ENSP00000360171:K388N;ENSP00000403954:K388N	ENSP00000360171:K388N	K	-	3	2	ODZ1	123633218	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.322000	0.43814	1.999000	0.58509	0.481000	0.45027	AAA		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		37	24	0	0	0	0	37	24				
DCAF12L1	139170	broad.mit.edu	37	X	125686094	125686094	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:125686094G>T	ENST00000371126.1	-	1	740	c.498C>A	c.(496-498)acC>acA	p.T166T		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	166										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTTCGCCGCCGGTGGCCAGAA	0.657																																						uc004eul.2		NA																	0				skin(3)|ovary(1)	4						c.(496-498)ACC>ACA		DDB1 and CUL4 associated factor 12-like 1							70.0	72.0	71.0					X																	125686094		2202	4298	6500	SO:0001819	synonymous_variant	139170							g.chrX:125686094G>T	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.498C>A	X.37:g.125686094G>T							p.T166T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	749	-			166			WD 1.		Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.498C>A	CCDS14610.1																																																																																				0.657	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		22	7	1	0	3.62e-10	6.48e-10	22	7				
GPR101	83550	broad.mit.edu	37	X	136112422	136112422	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:136112422T>A	ENST00000298110.1	-	1	1411	c.1412A>T	c.(1411-1413)aAg>aTg	p.K471M		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	471						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GCAGAAGAACTTCTTCAGCAT	0.493																																						uc011mwh.1		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(1411-1413)AAG>ATG		G protein-coupled receptor 101							114.0	103.0	106.0					X																	136112422		2203	4300	6503	SO:0001583	missense	83550					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:136112422T>A	AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"""GPCR / Class A : Orphans"""	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.1412A>T	X.37:g.136112422T>A	ENSP00000298110:p.Lys471Met						p.K471M	NM_054021	NP_473362	Q96P66	GP101_HUMAN			1	1412	-	Acute lymphoblastic leukemia(192;0.000127)		471			Cytoplasmic (Potential).		Q5JSM8|Q8NG93	Missense_Mutation	SNP	ENST00000298110.1	37	c.1412A>T	CCDS14662.1	.	.	.	.	.	.	.	.	.	.	T	14.47	2.544665	0.45280	.	.	ENSG00000165370	ENST00000298110	T	0.39056	1.1	5.5	1.48	0.22813	.	.	.	.	.	T	0.31949	0.0813	L	0.27053	0.805	0.09310	N	1	D	0.63880	0.993	P	0.46975	0.533	T	0.12372	-1.0550	9	0.56958	D	0.05	-10.454	6.4673	0.21990	0.0:0.4937:0.0:0.5063	.	471	Q96P66	GP101_HUMAN	M	471	ENSP00000298110:K471M	ENSP00000298110:K471M	K	-	2	0	GPR101	135940088	0.042000	0.20092	0.403000	0.26384	0.682000	0.39822	2.121000	0.41977	0.315000	0.23110	0.350000	0.21858	AAG		0.493	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058519.1			39	20	0	0	0	0	39	20				
F9	2158	broad.mit.edu	37	X	138642993	138642993	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:138642993G>A	ENST00000218099.2	+	7	824	c.817G>A	c.(817-819)Gtt>Att	p.V273I	F9_ENST00000394090.2_Missense_Mutation_p.V235I	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	273	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGAAACTGGTGTTAAAATTAC	0.368																																						uc004fas.1		NA																	0				lung(2)|ovary(1)	3						c.(817-819)GTT>ATT		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						188.0	168.0	175.0					X																	138642993		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138642993G>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.817G>A	X.37:g.138642993G>A	ENSP00000218099:p.Val273Ile					F9_uc004fat.1_Missense_Mutation_p.V235I	p.V273I	NM_000133	NP_000124	P00740	FA9_HUMAN			7	846	+	Acute lymphoblastic leukemia(192;0.000127)		273			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.817G>A	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	G	11.50	1.658548	0.29515	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.88509	-2.39;-2.39	5.84	4.98	0.66077	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.152320	0.06131	N	0.670699	T	0.81498	0.4835	N	0.10874	0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.68315	-0.5441	10	0.51188	T	0.08	.	11.5254	0.50576	0.0882:0.0:0.9118:0.0	.	235;273	Q5FBE1;P00740	.;FA9_HUMAN	I	273;235	ENSP00000218099:V273I;ENSP00000377650:V235I	ENSP00000218099:V273I	V	+	1	0	F9	138470659	0.126000	0.22350	0.002000	0.10522	0.001000	0.01503	2.420000	0.44679	1.223000	0.43536	0.544000	0.68410	GTT		0.368	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			7	42	0	0	0	0	7	42				
SPANXD	64648	broad.mit.edu	37	X	140785676	140785676	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:140785676G>T	ENST00000370515.3	-	2	573	c.240C>A	c.(238-240)ctC>ctA	p.L80L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1	Q9BXN6	SPNXD_HUMAN	SPANX family, member D	80						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CCTCCATTTGGAGGGGGTTGA	0.443																																						uc004fbq.2		NA																	0					0						c.(238-240)CTC>CTA		SPANX family, member E							179.0	159.0	166.0					X																	140785676		2200	4274	6474	SO:0001819	synonymous_variant	171489					cytoplasm|nucleus		g.chrX:140785676G>T	AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406			14332	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 4"""	300670, 300671	"""SPANX family, member E"""	SPANXE			Standard	NM_032417		Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.240C>A	X.37:g.140785676G>T							p.L80L	NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN			2	333	-	Acute lymphoblastic leukemia(192;7.65e-05)		80					Q5JWI1	Silent	SNP	ENST00000370515.3	37	c.240C>A	CCDS14675.1																																																																																				0.443	SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058598.1			105	132	1	0	1.62e-62	3.48e-62	105	132				
MAGEC2	51438	broad.mit.edu	37	X	141291747	141291747	+	Silent	SNP	G	G	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:141291747G>A	ENST00000247452.3	-	3	374	c.27C>T	c.(25-27)ttC>ttT	p.F9F		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	9					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CAACGTTGCGGAATGGAACGC	0.537										HNSCC(46;0.14)																												uc004fbu.1		NA																	0				breast(2)	2						c.(25-27)TTC>TTT		melanoma antigen family C, 2							117.0	106.0	110.0					X																	141291747		2203	4300	6503	SO:0001819	synonymous_variant	51438					cytoplasm|nucleus		g.chrX:141291747G>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.27C>T	X.37:g.141291747G>A		HNSCC(46;0.14)					p.F9F	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	375	-	Acute lymphoblastic leukemia(192;6.56e-05)		9					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Silent	SNP	ENST00000247452.3	37	c.27C>T	CCDS14678.1																																																																																				0.537	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		49	32	0	0	0	0	49	32				
IDS	3423	broad.mit.edu	37	X	148564745	148564745	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:148564745C>A	ENST00000340855.6	-	9	1394	c.1185G>T	c.(1183-1185)agG>agT	p.R395S	IDS_ENST00000422081.2_Missense_Mutation_p.R184S|IDS_ENST00000537071.1_5'UTR|IDS_ENST00000541269.1_Missense_Mutation_p.R184S	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	395					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCATGGATTGCCTGCCTGAAA	0.532																																						uc011mxe.1		NA																	0					0	GRCh37	CD050455	IDS	D		c.(1183-1185)AGG>AGT		iduronate-2-sulfatase isoform a precursor							34.0	30.0	31.0					X																	148564745		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148564745C>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1185G>T	X.37:g.148564745C>A	ENSP00000339801:p.Arg395Ser					IDS_uc011mxd.1_5'UTR|IDS_uc011mxf.1_Missense_Mutation_p.R305S|IDS_uc011mxg.1_Missense_Mutation_p.R184S|IDS_uc010nsu.1_Missense_Mutation_p.R5S|IDS_uc004fcw.3_Missense_Mutation_p.R184S	p.R395S	NM_000202	NP_000193	P22304	IDS_HUMAN			9	1383	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		395					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.1185G>T	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.581900	0.28180	.	.	ENSG00000010404	ENST00000340855;ENST00000541269	D;D	0.98777	-5.13;-5.13	4.96	1.95	0.26073	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.912628	0.09562	N	0.785453	D	0.94994	0.8380	N	0.21448	0.665	0.80722	D	1	B;B	0.24317	0.022;0.101	B;B	0.33121	0.102;0.158	D	0.88989	0.3413	10	0.09338	T	0.73	.	4.0026	0.09587	0.1339:0.5917:0.1281:0.1462	.	305;395	B4DGD7;P22304	.;IDS_HUMAN	S	395;184	ENSP00000339801:R395S;ENSP00000441261:R184S	ENSP00000339801:R395S	R	-	3	2	IDS	148372650	0.835000	0.29415	0.343000	0.25615	0.715000	0.41141	0.397000	0.20883	0.842000	0.35045	0.422000	0.28245	AGG		0.532	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			11	9	1	0	4.69e-08	7.99e-08	11	9				
PASD1	139135	broad.mit.edu	37	X	150840977	150840977	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:150840977T>A	ENST00000370357.4	+	14	2005	c.1760T>A	c.(1759-1761)cTg>cAg	p.L587Q		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	587						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CAGATATGCCTGCAAAACCCA	0.522																																						uc004fev.3		NA																	0				ovary(3)	3						c.(1759-1761)CTG>CAG		PAS domain containing 1							191.0	134.0	154.0					X																	150840977		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840977T>A	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1760T>A	X.37:g.150840977T>A	ENSP00000359382:p.Leu587Gln						p.L587Q	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			14	2092	+	Acute lymphoblastic leukemia(192;6.56e-05)		587					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1760T>A	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.434868	0.43224	.	.	ENSG00000166049	ENST00000370357	T	0.59224	0.28	2.63	2.63	0.31362	.	.	.	.	.	T	0.58807	0.2148	N	0.24115	0.695	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.43393	-0.9394	9	0.72032	D	0.01	.	6.3794	0.21525	0.0:0.0:0.0:1.0	.	587	Q8IV76	PASD1_HUMAN	Q	587	ENSP00000359382:L587Q	ENSP00000359382:L587Q	L	+	2	0	PASD1	150591633	0.033000	0.19621	0.003000	0.11579	0.007000	0.05969	1.417000	0.34770	1.300000	0.44818	0.422000	0.28245	CTG		0.522	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		30	16	0	0	0	0	30	16				
MAGEA4	4103	broad.mit.edu	37	X	151092986	151092986	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:151092986T>A	ENST00000360243.2	+	3	1117	c.850T>A	c.(850-852)Tat>Aat	p.Y284N	MAGEA4_ENST00000393921.1_Missense_Mutation_p.Y284N|MAGEA4_ENST00000276344.2_Missense_Mutation_p.Y284N|MAGEA4_ENST00000393920.1_Missense_Mutation_p.Y284N|MAGEA4_ENST00000370337.4_Missense_Mutation_p.Y284N|MAGEA4_ENST00000370335.1_Missense_Mutation_p.Y284N|MAGEA4_ENST00000370340.3_Missense_Mutation_p.Y284N	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	284	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAACCAGCTATGTGAAAGT	0.552																																						uc004fez.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(850-852)TAT>AAT		melanoma antigen family A, 4							136.0	133.0	134.0					X																	151092986		2203	4300	6503	SO:0001583	missense	4103						protein binding	g.chrX:151092986T>A		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.850T>A	X.37:g.151092986T>A	ENSP00000353379:p.Tyr284Asn					MAGEA4_uc004ffa.2_Missense_Mutation_p.Y284N|MAGEA4_uc004ffb.2_Missense_Mutation_p.Y284N|MAGEA4_uc004ffc.2_Missense_Mutation_p.Y284N|MAGEA4_uc004ffd.2_Missense_Mutation_p.Y284N	p.Y284N	NM_002362	NP_002353	P43358	MAGA4_HUMAN			3	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		284			MAGE.		Q14798	Missense_Mutation	SNP	ENST00000360243.2	37	c.850T>A	CCDS14702.1	.	.	.	.	.	.	.	.	.	.	T	9.572	1.121295	0.20877	.	.	ENSG00000147381	ENST00000276344;ENST00000393921;ENST00000370337;ENST00000393920;ENST00000370340;ENST00000370335;ENST00000360243	T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63	2.55	-0.0103	0.13997	.	0.297118	0.36519	N	0.002549	T	0.05914	0.0154	M	0.81802	2.56	0.09310	N	1	B	0.27997	0.197	B	0.26864	0.074	T	0.29397	-1.0013	9	.	.	.	.	1.8848	0.03235	0.5309:0.0:0.1753:0.2938	.	284	P43358	MAGA4_HUMAN	N	284	ENSP00000276344:Y284N;ENSP00000377498:Y284N;ENSP00000359362:Y284N;ENSP00000377497:Y284N;ENSP00000359365:Y284N;ENSP00000359360:Y284N;ENSP00000353379:Y284N	.	Y	+	1	0	MAGEA4	150843642	0.252000	0.23972	0.000000	0.03702	0.015000	0.08874	1.903000	0.39858	-0.085000	0.12573	0.242000	0.17961	TAT		0.552	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		85	59	0	0	0	0	85	59				
DUSP9	1852	broad.mit.edu	37	X	152915660	152915660	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:152915660A>C	ENST00000342782.3	+	4	1320	c.1055A>C	c.(1054-1056)cAg>cCg	p.Q352P	DUSP9_ENST00000370167.4_Missense_Mutation_p.Q352P			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	352	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|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)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCACTCGCAGGAGCAGGGC	0.632																																						uc004fhx.3		NA																	0				ovary(2)	2						c.(1054-1056)CAG>CCG		dual specificity phosphatase 9							97.0	87.0	91.0					X																	152915660		2203	4300	6503	SO:0001583	missense	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915660A>C	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1055A>C	X.37:g.152915660A>C	ENSP00000345853:p.Gln352Pro					DUSP9_uc004fhy.3_Missense_Mutation_p.Q352P	p.Q352P	NM_001395	NP_001386	Q99956	DUS9_HUMAN			4	1259	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		352			Tyrosine-protein phosphatase.		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	c.1055A>C	CCDS14724.1	.	.	.	.	.	.	.	.	.	.	a	8.534	0.871662	0.17322	.	.	ENSG00000130829	ENST00000370167;ENST00000342782	T;T	0.02631	4.22;4.22	4.13	-5.24	0.02789	.	2.935530	0.01272	N	0.009469	T	0.03783	0.0107	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38585	-0.9654	10	0.31617	T	0.26	.	6.9922	0.24761	0.6542:0.0:0.2187:0.1271	.	352	Q99956	DUS9_HUMAN	P	352	ENSP00000359186:Q352P;ENSP00000345853:Q352P	ENSP00000345853:Q352P	Q	+	2	0	DUSP9	152568854	0.696000	0.27757	0.000000	0.03702	0.001000	0.01503	1.989000	0.40707	-1.581000	0.01642	-1.364000	0.01208	CAG		0.632	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		40	36	0	0	0	0	40	36				
AMELY	266	broad.mit.edu	37	Y	6736363	6736363	+	Silent	SNP	G	G	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrY:6736363G>T	ENST00000383036.1	-	5	329	c.330C>A	c.(328-330)gtC>gtA	p.V110V	AMELY_ENST00000215479.5_Silent_p.V96V|AMELY_ENST00000383037.4_Silent_p.V110V			Q99218	AMELY_HUMAN	amelogenin, Y-linked	110	Gln-rich.				biomineral tissue development (GO:0031214)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	structural constituent of tooth enamel (GO:0030345)			NS(1)|lung(5)	6						CTTGCTGGCGGACCCTGGGCT	0.612																																						uc004fra.1		NA																	0					0						c.(328-330)GTC>GTA		amelogenin, Y-linked precursor							76.0	77.0	77.0					Y																	6736363		616	1995	2611	SO:0001819	synonymous_variant	266				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chrY:6736363G>T	M86933	CCDS14778.1	Yp11.2	2004-12-07	2003-09-12		ENSG00000099721	ENSG00000099721			462	protein-coding gene	gene with protein product		410000	"""amelogenin (Y chromosome)"""	AMGL		2004775	Standard	NM_001143		Approved		uc004fqz.3	Q99218	OTTHUMG00000035297	ENST00000383036.1:c.330C>A	Y.37:g.6736363G>T						AMELY_uc004fqz.2_Silent_p.V96V	p.V110V	NM_001143	NP_001134	Q99218	AMELY_HUMAN			5	342	-			110			Gln-rich.		Q6RWT1	Silent	SNP	ENST00000383036.1	37	c.330C>A	CCDS14778.1																																																																																				0.612	AMELY-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000100214.1	NM_001143		32	25	1	0	1.22e-17	2.43e-17	32	25				
TBL1Y	90665	broad.mit.edu	37	Y	6958154	6958154	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrY:6958154C>A	ENST00000383032.1	+	18	2118	c.1471C>A	c.(1471-1473)Caa>Aaa	p.Q491K	TBL1Y_ENST00000346432.3_Missense_Mutation_p.Q491K|TBL1Y_ENST00000355162.2_Missense_Mutation_p.Q491K	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						CCACAGCTACCAAGGCACTGG	0.532																																						uc004frb.2		NA																	0					0						c.(1471-1473)CAA>AAA		transducin beta-like 1Y							46.0	50.0	49.0					Y																	6958154		584	1927	2511	SO:0001583	missense	90665				transcription, DNA-dependent			g.chrY:6958154C>A	AF332220	CCDS14779.1	Yp11.2	2013-01-10	2009-12-17		ENSG00000092377	ENSG00000092377		"""WD repeat domain containing"""	18502	protein-coding gene	gene with protein product		400033					Standard	NM_033284		Approved	TBL1	uc004frd.3	Q9BQ87	OTTHUMG00000035299	ENST00000383032.1:c.1471C>A	Y.37:g.6958154C>A	ENSP00000372499:p.Gln491Lys					TBL1Y_uc004frc.2_Missense_Mutation_p.Q491K|TBL1Y_uc004frd.2_Missense_Mutation_p.Q491K|TBL1Y_uc011nap.1_Missense_Mutation_p.Q333K	p.Q491K	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN			18	2118	+			491			WD 8.		A1L4B3	Missense_Mutation	SNP	ENST00000383032.1	37	c.1471C>A	CCDS14779.1																																																																																				0.532	TBL1Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085360.1	NM_033284		11	11	1	0	7.04e-09	1.22e-08	11	11				
KDM5D	8284	broad.mit.edu	37	Y	21869833	21869833	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrY:21869833T>A	ENST00000317961.4	-	23	3657	c.3386A>T	c.(3385-3387)gAc>gTc	p.D1129V	KDM5D_ENST00000541639.1_Missense_Mutation_p.D1160V|KDM5D_ENST00000382806.2_Missense_Mutation_p.D1072V	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1129					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AGAGCCTGGGTCTCTGAGGTC	0.577																																						uc004fug.2		NA																	0				skin(1)	1						c.(3385-3387)GAC>GTC		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)						39.0	40.0	39.0					Y																	21869833		581	1905	2486	SO:0001583	missense	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21869833T>A	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.3386A>T	Y.37:g.21869833T>A	ENSP00000322408:p.Asp1129Val					KDM5D_uc011naz.1_Missense_Mutation_p.D1160V|KDM5D_uc010nwy.2_Missense_Mutation_p.D1072V|KDM5D_uc004fuf.2_Missense_Mutation_p.D304V	p.D1129V	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			23	3674	-			1129					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Missense_Mutation	SNP	ENST00000317961.4	37	c.3386A>T	CCDS14794.1	.	.	.	.	.	.	.	.	.	.	.	8.847	0.943635	0.18281	.	.	ENSG00000012817	ENST00000415360	T	0.41758	0.99	0.842	0.842	0.18927	.	0.131282	0.48286	U	0.000195	T	0.51143	0.1657	M	0.83953	2.67	0.36120	D	0.845406	D;D;D;D	0.76494	0.999;0.995;0.992;0.999	D;D;D;D	0.71184	0.963;0.972;0.917;0.972	T	0.58387	-0.7645	7	.	.	.	-14.2651	.	.	.	.	1160;1072;1129;1088	B7ZLX1;Q9BY66-2;Q9BY66;E9PFH2	.;.;KDM5D_HUMAN;.	V	101	ENSP00000389433:D101V	.	D	-	2	0	KDM5D	20329221	1.000000	0.71417	0.999000	0.59377	0.243000	0.25628	5.286000	0.65639	0.648000	0.30732	0.055000	0.15244	GAC		0.577	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		12	11	0	0	0	0	12	11				
ELAVL4	1996	broad.mit.edu	37	1	50661318	50661319	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:50661318_50661319insA	ENST00000371823.4	+	5	818_819	c.594_595insA	c.(595-597)agcfs	p.S199fs	ELAVL4_ENST00000448907.2_Frame_Shift_Ins_p.S202fs|ELAVL4_ENST00000371827.1_Frame_Shift_Ins_p.S199fs|ELAVL4_ENST00000371821.1_Frame_Shift_Ins_p.S204fs|ELAVL4_ENST00000371819.1_Frame_Shift_Ins_p.S204fs|ELAVL4_ENST00000357083.4_Frame_Shift_Ins_p.S216fs|ELAVL4_ENST00000371824.1_Frame_Shift_Ins_p.S199fs	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	199	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCAGAAGCCCAGCGGTGCTAC	0.569																																						uc001csb.2		NA																	0				ovary(1)|pancreas(1)	2						c.(592-597)CCCAGCfs		ELAV-like 4 isoform 1																																				SO:0001589	frameshift_variant	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50661318_50661319insA	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.595dupA	1.37:g.50661319_50661319dupA	ENSP00000360888:p.Ser199fs					ELAVL4_uc001cry.3_Frame_Shift_Ins_p.P201fs|ELAVL4_uc001crz.3_Frame_Shift_Ins_p.P198fs|ELAVL4_uc001csa.3_Frame_Shift_Ins_p.P215fs|ELAVL4_uc001csc.3_Frame_Shift_Ins_p.P198fs|ELAVL4_uc009vyu.2_Frame_Shift_Ins_p.P203fs|ELAVL4_uc010omz.1_Frame_Shift_Ins_p.P203fs	p.P198fs	NM_021952	NP_068771	P26378	ELAV4_HUMAN			5	862_863	+			198_199			RRM 2.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Frame_Shift_Ins	INS	ENST00000371823.4	37	c.594_595insA	CCDS553.1																																																																																				0.569	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		85	63	NA	NA	NA	NA	85	63	---	---	---	---
TXNIP	10628	broad.mit.edu	37	1	145439871	145439874	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:145439871_145439874delAAAG	ENST00000369317.4	+	3	751_754	c.417_420delAAAG	c.(415-420)acaaagfs	p.TK139fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	139					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCAAGAGACAAAGAAAAACTTTG	0.441																																						uc001enn.3		NA																	0				ovary(2)	2						c.(415-420)ACAAAGfs		thioredoxin interacting protein																																				SO:0001589	frameshift_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439871_145439874delAAAG	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.417_420delAAAG	1.37:g.145439871_145439874delAAAG	ENSP00000358323:p.Thr139fs					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Frame_Shift_Del_p.T84fs	p.T139fs	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			3	758_761	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		139_140					B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Del	DEL	ENST00000369317.4	37	c.417_420delAAAG	CCDS913.1																																																																																				0.441	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472		33	78	NA	NA	NA	NA	33	78	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236208939	236208939	+	Frame_Shift_Del	DEL	G	G	-	rs267598427		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:236208939delG	ENST00000264187.6	-	3	652	c.570delC	c.(568-570)tccfs	p.S190fs	NID1_ENST00000366595.3_Frame_Shift_Del_p.S190fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	190	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	AAATGGCATAGGAGCTGGAAT	0.413																																						uc001hxo.2		NA																	0				large_intestine(1)|pancreas(1)	2						c.(568-570)TCCfs		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						67.0	61.0	63.0					1																	236208939		2203	4300	6503	SO:0001589	frameshift_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236208939delG	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.570delC	1.37:g.236208939delG	ENSP00000264187:p.Ser190fs					NID1_uc009xgd.2_Frame_Shift_Del_p.S190fs	p.S190fs	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		3	672	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	190			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Frame_Shift_Del	DEL	ENST00000264187.6	37	c.570delC	CCDS1608.1																																																																																				0.413	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		15	35	NA	NA	NA	NA	15	35	---	---	---	---
PLD5	200150	broad.mit.edu	37	1	242253370	242253370	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr1:242253370delC	ENST00000536534.2	-	10	1638	c.1397delG	c.(1396-1398)ggcfs	p.G466fs	PLD5_ENST00000427495.1_Frame_Shift_Del_p.G404fs|PLD5_ENST00000442594.2_Frame_Shift_Del_p.G374fs			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	466						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AAGGCCCGTGCCAGCATTCTG	0.423																																						uc001hzn.1		NA																	0				ovary(6)	6						c.(1396-1398)GGCfs		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							136.0	129.0	131.0					1																	242253370		2203	4300	6503	SO:0001589	frameshift_variant	200150					integral to membrane	catalytic activity	g.chr1:242253370delC	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.1397delG	1.37:g.242253370delC	ENSP00000440896:p.Gly466fs					PLD5_uc001hzl.3_Frame_Shift_Del_p.G404fs|PLD5_uc001hzm.3_Frame_Shift_Del_p.G256fs|PLD5_uc001hzo.1_Frame_Shift_Del_p.G374fs	p.G466fs			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		10	1524	-	Melanoma(84;0.242)		466					A1KXV0|B7Z324|Q494U9|Q8NB22	Frame_Shift_Del	DEL	ENST00000536534.2	37	c.1397delG	CCDS1621.2																																																																																				0.423	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		65	85	NA	NA	NA	NA	65	85	---	---	---	---
NHLRC2	374354	broad.mit.edu	37	10	115636695	115636695	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr10:115636695delG	ENST00000369301.3	+	3	959	c.747delG	c.(745-747)ttgfs	p.L249fs		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	249										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATAGAATTTTGGTCGTTTGGA	0.358																																						uc001lax.1		NA																	0				ovary(1)	1						c.(745-747)TTGfs		NHL repeat containing 2							55.0	57.0	56.0					10																	115636695		2155	4276	6431	SO:0001589	frameshift_variant	374354				cell redox homeostasis			g.chr10:115636695delG	AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.747delG	10.37:g.115636695delG	ENSP00000358307:p.Leu249fs						p.L249fs	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN		Epithelial(162;0.017)|all cancers(201;0.0187)	3	959	+			249			NHL 1.		Q8N1H1|Q8N5A6	Frame_Shift_Del	DEL	ENST00000369301.3	37	c.747delG	CCDS7585.1																																																																																				0.358	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050446.1	NM_198514		11	41	NA	NA	NA	NA	11	41	---	---	---	---
OR8K1	390157	broad.mit.edu	37	11	56114379	56114379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:56114379delC	ENST00000279783.2	+	1	959	c.865delC	c.(865-867)cctfs	p.P289fs		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CCTGTTGATTCCTATGCTGAA	0.353										HNSCC(65;0.19)																												uc010rjg.1		NA																	0				ovary(1)|pancreas(1)	2						c.(865-867)CCTfs		olfactory receptor, family 8, subfamily K,							96.0	93.0	94.0					11																	56114379		2201	4296	6497	SO:0001589	frameshift_variant	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56114379delC	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.865delC	11.37:g.56114379delC	ENSP00000279783:p.Pro289fs	HNSCC(65;0.19)					p.P289fs	NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN			1	865	+	Esophageal squamous(21;0.00448)		289			Helical; Name=7; (Potential).		B9EJB1|Q6IFC3|Q96RC1	Frame_Shift_Del	DEL	ENST00000279783.2	37	c.865delC	CCDS31528.1																																																																																				0.353	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		26	90	NA	NA	NA	NA	26	90	---	---	---	---
OR4D9	390199	broad.mit.edu	37	11	59282896	59282896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr11:59282896delC	ENST00000329328.3	+	1	511	c.511delC	c.(511-513)cccfs	p.P171fs		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	171						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(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TTTCTGTGGACCCAATGTTCT	0.532																																						uc010rkv.1		NA																	0					0						c.(511-513)CCCfs		olfactory receptor, family 4, subfamily D,							142.0	132.0	136.0					11																	59282896		2201	4295	6496	SO:0001589	frameshift_variant	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282896delC	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.511delC	11.37:g.59282896delC	ENSP00000328563:p.Pro171fs						p.P171fs	NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN			1	511	+			171			Extracellular (Potential).		Q6IFF3	Frame_Shift_Del	DEL	ENST00000329328.3	37	c.511delC	CCDS31564.1																																																																																				0.532	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		37	103	NA	NA	NA	NA	37	103	---	---	---	---
IRAK3	11213	broad.mit.edu	37	12	66638281	66638282	+	Frame_Shift_Ins	INS	-	-	GATGA			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:66638281_66638282insGATGA	ENST00000261233.4	+	9	1324_1325	c.903_904insGATGA	c.(904-906)gatfs	p.-302fs	IRAK3_ENST00000457197.2_Frame_Shift_Ins_p.-241fs	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACATCCTTTTGGATGATCAGTT	0.396																																						uc001sth.2		NA																	0				lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(901-906)TTGGATfs		interleukin-1 receptor-associated kinase 3																																				SO:0001589	frameshift_variant	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638281_66638282insGATGA	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.904_908dupGATGA	12.37:g.66638282_66638286dupGATGA	ENSP00000261233:p.Asp302fs					IRAK3_uc010ssy.1_Frame_Shift_Ins_p.L240fs	p.L301fs	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	9	1005_1006	+			301_302			Protein kinase.			Frame_Shift_Ins	INS	ENST00000261233.4	37	c.903_904insGATGA	CCDS8975.1																																																																																				0.396	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			10	48	NA	NA	NA	NA	10	48	---	---	---	---
TPH2	121278	broad.mit.edu	37	12	72335486	72335487	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:72335486_72335487insT	ENST00000333850.3	+	2	369_370	c.228_229insT	c.(229-231)ttgfs	p.L77fs	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	77	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AAGTTGGTGGATTGGTAAAAGC	0.416																																						uc009zrw.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(226-231)GGATTGfs		tryptophan hydroxylase 2	L-Tryptophan(DB00150)																																			SO:0001589	frameshift_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72335486_72335487insT	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.230dupT	12.37:g.72335488_72335488dupT	ENSP00000329093:p.Leu77fs					TPH2_uc001swy.2_5'UTR	p.G76fs	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN			2	369_370	+			76_77			ACT.		A6NGA4|Q14CB0	Frame_Shift_Ins	INS	ENST00000333850.3	37	c.228_229insT	CCDS31859.1																																																																																				0.416	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		34	65	NA	NA	NA	NA	34	65	---	---	---	---
CMKLR1	1240	broad.mit.edu	37	12	108686440	108686440	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:108686440delG	ENST00000312143.7	-	3	663	c.300delC	c.(298-300)gccfs	p.A100fs	CMKLR1_ENST00000550402.1_Frame_Shift_Del_p.A100fs|CMKLR1_ENST00000552995.1_Frame_Shift_Del_p.A98fs|CMKLR1_ENST00000412676.1_Frame_Shift_Del_p.A100fs|CMKLR1_ENST00000397688.2_Frame_Shift_Del_p.A98fs	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	100					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GGTAGTCCATGGCGGCATAGG	0.498																																						uc009zuw.2		NA																	0				lung(3)|ovary(1)|pancreas(1)	5						c.(298-300)GCCfs		chemokine-like receptor 1 isoform a							141.0	145.0	144.0					12																	108686440		2110	4217	6327	SO:0001589	frameshift_variant	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108686440delG	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.300delC	12.37:g.108686440delG	ENSP00000311733:p.Ala100fs					CMKLR1_uc001tmw.2_Frame_Shift_Del_p.A100fs|CMKLR1_uc001tmv.2_Frame_Shift_Del_p.A98fs|CMKLR1_uc009zuv.2_Frame_Shift_Del_p.A100fs	p.A100fs	NM_001142345	NP_001135817	Q99788	CML1_HUMAN			3	491	-			100			Extracellular (Potential).		A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Frame_Shift_Del	DEL	ENST00000312143.7	37	c.300delC	CCDS44965.1																																																																																				0.498	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			18	72	NA	NA	NA	NA	18	72	---	---	---	---
GLT1D1	144423	broad.mit.edu	37	12	129442110	129442110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr12:129442110delG	ENST00000442111.2	+	11	889	c.801delG	c.(799-801)ccgfs	p.P267fs	GLT1D1_ENST00000542193.1_Frame_Shift_Del_p.P184fs|GLT1D1_ENST00000537468.1_Frame_Shift_Del_p.P272fs|GLT1D1_ENST00000281703.6_Frame_Shift_Del_p.P187fs			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	267					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TAGAAGTACCGGTATTGGCCA	0.527																																						uc010tbh.1		NA																	0					0						c.(814-816)CCGfs		glycosyltransferase 1 domain containing 1							101.0	91.0	94.0					12																	129442110		2203	4300	6503	SO:0001589	frameshift_variant	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129442110delG		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.801delG	12.37:g.129442110delG	ENSP00000394692:p.Pro267fs					GLT1D1_uc001uhx.1_Frame_Shift_Del_p.P187fs|GLT1D1_uc001uhy.1_RNA	p.P272fs	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	12	825	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		267					Q86XG8	Frame_Shift_Del	DEL	ENST00000442111.2	37	c.816delG																																																																																					0.527	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669		11	21	NA	NA	NA	NA	11	21	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48955409	48955409	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr13:48955409delG	ENST00000267163.4	+	17	1663	c.1525delG	c.(1525-1527)ggafs	p.G509fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	509	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCTTGATTCTGGAACAGATTT	0.294		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		23	Whole gene deletion(15)|Unknown(8)	p.?(7)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(1525-1527)GGAfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						39.0	39.0	39.0					13																	48955409		2201	4300	6501	SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955409delG	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1525delG	13.37:g.48955409delG	ENSP00000267163:p.Gly509fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.G509fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1691	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	509			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1525delG	CCDS31973.1																																																																																				0.294	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			10	11	NA	NA	NA	NA	10	11	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26806276	26806276	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:26806276delC	ENST00000311550.5	-	8	994	c.883delG	c.(883-885)gagfs	p.E295fs	GABRB3_ENST00000545868.1_Frame_Shift_Del_p.E210fs|GABRB3_ENST00000299267.4_Frame_Shift_Del_p.E295fs|GABRB3_ENST00000541819.2_Frame_Shift_Del_p.E351fs|GABRB3_ENST00000400188.3_Frame_Shift_Del_p.E224fs	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	295	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|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)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCAAGGTCTCCCGAAGGTGG	0.473																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(883-885)GAGfs		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						192.0	178.0	183.0					15																	26806276		2203	4300	6503	SO:0001589	frameshift_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806276delC		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.883delG	15.37:g.26806276delC	ENSP00000308725:p.Glu295fs					GABRB3_uc010uae.1_Frame_Shift_Del_p.E210fs|GABRB3_uc001zba.2_Frame_Shift_Del_p.E295fs|GABRB3_uc001zbb.2_Frame_Shift_Del_p.E351fs	p.E295fs	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1025	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	295					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Frame_Shift_Del	DEL	ENST00000311550.5	37	c.883delG	CCDS10019.1																																																																																				0.473	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			28	51	NA	NA	NA	NA	28	51	---	---	---	---
STRA6	64220	broad.mit.edu	37	15	74490147	74490147	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr15:74490147delG	ENST00000323940.5	-	3	371	c.126delC	c.(124-126)tccfs	p.S42fs	STRA6_ENST00000535552.1_Frame_Shift_Del_p.S79fs|STRA6_ENST00000432245.2_Frame_Shift_Del_p.S42fs|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000563965.1_Frame_Shift_Del_p.S81fs|STRA6_ENST00000574278.1_Frame_Shift_Del_p.S57fs|STRA6_ENST00000423167.2_Frame_Shift_Del_p.S42fs|STRA6_ENST00000395105.4_Frame_Shift_Del_p.S42fs|STRA6_ENST00000449139.2_Frame_Shift_Del_p.S42fs|STRA6_ENST00000416286.3_Frame_Shift_Del_p.S42fs	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	42					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						TGGTGTGGCAGGAGGGCACTT	0.622																																						uc002axk.2		NA																	0				central_nervous_system(1)	1						c.(124-126)TCCfs		stimulated by retinoic acid gene 6 homolog							112.0	88.0	96.0					15																	74490147		2198	4297	6495	SO:0001589	frameshift_variant	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74490147delG	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.126delC	15.37:g.74490147delG	ENSP00000326085:p.Ser42fs					STRA6_uc002axi.2_5'Flank|STRA6_uc010ulh.1_Frame_Shift_Del_p.S80fs|STRA6_uc002axj.2_Frame_Shift_Del_p.S81fs|STRA6_uc010bji.2_Frame_Shift_Del_p.S42fs|STRA6_uc002axl.2_5'UTR|STRA6_uc002axm.2_Frame_Shift_Del_p.S42fs|STRA6_uc002axn.2_Frame_Shift_Del_p.S42fs|STRA6_uc010uli.1_Frame_Shift_Del_p.S79fs|STRA6_uc010bjj.1_RNA|STRA6_uc010bjk.2_Frame_Shift_Del_p.S42fs	p.S42fs	NM_022369	NP_071764	Q9BX79	STRA6_HUMAN			3	308	-			42			Extracellular (Potential).		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Frame_Shift_Del	DEL	ENST00000323940.5	37	c.126delC	CCDS10261.1																																																																																				0.622	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			15	25	NA	NA	NA	NA	15	25	---	---	---	---
APOBR	55911	broad.mit.edu	37	16	28508798	28508798	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:28508798delG	ENST00000431282.1	+	3	2419	c.2409delG	c.(2407-2409)gagfs	p.E803fs	CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Frame_Shift_Del_p.E812fs|APOBR_ENST00000328423.5_Frame_Shift_Del_p.E803fs			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	803	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TTGGTCTGGAGGGCTCAGCAG	0.587																																						uc002dqb.1		NA																	0					0						c.(2407-2409)GAGfs		apolipoprotein B48 receptor							39.0	45.0	43.0					16																	28508798		2066	4192	6258	SO:0001589	frameshift_variant	55911				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle		g.chr16:28508798delG	AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.2409delG	16.37:g.28508798delG	ENSP00000416094:p.Glu803fs					uc010vct.1_Intron|APOB48R_uc010byg.1_Frame_Shift_Del_p.E341fs	p.E803fs	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN			3	2419	+			803			Glu-rich.		H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Frame_Shift_Del	DEL	ENST00000431282.1	37	c.2409delG																																																																																					0.587	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_182804		8	49	NA	NA	NA	NA	8	49	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50811792	50811792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr16:50811792delG	ENST00000427738.3	+	7	1283	c.1078delG	c.(1078-1080)gggfs	p.G360fs	CYLD_ENST00000568704.2_Frame_Shift_Del_p.G357fs|CYLD_ENST00000566206.1_Frame_Shift_Del_p.G357fs|CYLD_ENST00000569418.1_Frame_Shift_Del_p.G357fs|CYLD_ENST00000564326.1_Frame_Shift_Del_p.G357fs|CYLD_ENST00000311559.9_Frame_Shift_Del_p.G360fs|CYLD_ENST00000540145.1_Frame_Shift_Del_p.G360fs|CYLD_ENST00000398568.2_Frame_Shift_Del_p.G357fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	360	Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.G360L(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TACCTTAAATGGGTCTTCTGT	0.299			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1		NA	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Substitution - Missense(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.(1078-1080)GGGfs		ubiquitin carboxyl-terminal hydrolase CYLD							97.0	92.0	94.0					16																	50811792		1802	4052	5854	SO:0001589	frameshift_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50811792delG	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1078delG	16.37:g.50811792delG	ENSP00000392025:p.Gly360fs					CYLD_uc002egn.1_Frame_Shift_Del_p.G357fs|CYLD_uc002ego.2_Frame_Shift_Del_p.G357fs|CYLD_uc010cbs.1_Frame_Shift_Del_p.G357fs|CYLD_uc002egq.1_Frame_Shift_Del_p.G357fs|CYLD_uc002egr.1_Frame_Shift_Del_p.G357fs|CYLD_uc002egs.1_Frame_Shift_Del_p.G357fs	p.G360fs	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			8	1493	+		all_cancers(37;0.0156)	360			Interaction with TRIP.		O94934|Q7L3N6|Q96EH0|Q9NZX9	Frame_Shift_Del	DEL	ENST00000427738.3	37	c.1078delG	CCDS45482.1																																																																																				0.299	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			41	47	NA	NA	NA	NA	41	47	---	---	---	---
RTN4RL1	146760	broad.mit.edu	37	17	1841024	1841025	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:1841024_1841025delCA	ENST00000331238.6	-	2	570_571	c.91_92delTG	c.(91-93)tgcfs	p.C31fs		NM_178568.2	NP_848663.1			reticulon 4 receptor-like 1											breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CGCCGGGTAGCACACACAGTCC	0.658																																					GBM(68;949 1139 14865 32798 38342)	uc002ftp.2		NA																	0					0						c.(91-93)TGCfs		reticulon 4 receptor-like 1 precursor																																				SO:0001589	frameshift_variant	146760				axon regeneration	anchored to plasma membrane	receptor activity	g.chr17:1841024_1841025delCA	AF532859	CCDS45569.1	17p13.3	2008-02-05				ENSG00000185924			21329	protein-coding gene	gene with protein product	"""nogo-66 receptor homolog 2"""	610461					Standard	NM_178568		Approved	NGRH2, NgR3, DKFZp547J144	uc002ftp.3	Q86UN2		ENST00000331238.6:c.91_92delTG	17.37:g.1841030_1841031delCA	ENSP00000330631:p.Cys31fs						p.C31fs	NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN			2	110_111	-			31			LRRNT.			Frame_Shift_Del	DEL	ENST00000331238.6	37	c.91_92delTG	CCDS45569.1																																																																																				0.658	RTN4RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450155.2	NM_178568		13	36	NA	NA	NA	NA	13	36	---	---	---	---
SLC16A3	9123	broad.mit.edu	37	17	80195732	80195732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr17:80195732delG	ENST00000581287.1	+	3	3408	c.1086delG	c.(1084-1086)atgfs	p.M362fs	SLC16A3_ENST00000582743.1_Frame_Shift_Del_p.M362fs|SLC16A3_ENST00000392339.1_Frame_Shift_Del_p.M362fs|SLC16A3_ENST00000392341.1_Frame_Shift_Del_p.M362fs	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	362					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|leukocyte migration (GO:0050900)|monocarboxylic acid transport (GO:0015718)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|poly(A) RNA binding (GO:0044822)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Gamma Hydroxybutyric Acid(DB01440)|Niacin(DB00627)|Pyruvic acid(DB00119)	TGCTGCTGATGGAGGCGGTGG	0.682																																					Pancreas(52;652 1135 19190 37282 52456)	uc002kea.2		NA																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(1084-1086)ATGfs		solute carrier family 16, member 3	Pyruvic acid(DB00119)						32.0	28.0	29.0					17																	80195732		2198	4295	6493	SO:0001589	frameshift_variant	9123				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:80195732delG	U81800	CCDS11804.1	17q25.3	2013-07-18	2013-07-18		ENSG00000141526	ENSG00000141526		"""Solute carriers"""	10924	protein-coding gene	gene with protein product		603877	"""solute carrier family 16 (monocarboxylic acid transporters), member 3"", ""solute carrier family 16, member 3 (monocarboxylic acid transporter 4)"""			9425115	Standard	NM_004207		Approved	MCT3, MCT4	uc021ufm.1	O15427	OTTHUMG00000178832	ENST00000581287.1:c.1086delG	17.37:g.80195732delG	ENSP00000463978:p.Met362fs					SLC16A3_uc002kee.2_Frame_Shift_Del_p.M362fs|SLC16A3_uc002keb.2_Frame_Shift_Del_p.M362fs|SLC16A3_uc002kec.2_Frame_Shift_Del_p.M362fs|SLC16A3_uc002ked.2_Frame_Shift_Del_p.M362fs	p.M362fs	NM_001042422	NP_001035887	O15427	MOT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		4	1225	+	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		362			Helical; (Potential).		B3KXG8|Q2M1P8	Frame_Shift_Del	DEL	ENST00000581287.1	37	c.1086delG	CCDS11804.1																																																																																				0.682	SLC16A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443498.1	NM_004207		10	30	NA	NA	NA	NA	10	30	---	---	---	---
ANKRD30B	374860	broad.mit.edu	37	18	14752966	14752966	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:14752966delG	ENST00000358984.4	+	3	645	c.465delG	c.(463-465)gtgfs	p.V155fs	ANKRD30B_ENST00000447268.2_Frame_Shift_Del_p.V155fs|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	155										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGTTAATGGTGGCAACACTGC	0.363																																						uc010dlo.2		NA																	0				ovary(1)|skin(1)	2						c.(463-465)GTGfs		ankyrin repeat domain 30B							177.0	157.0	163.0					18																	14752966		692	1591	2283	SO:0001589	frameshift_variant	374860							g.chr18:14752966delG	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.465delG	18.37:g.14752966delG	ENSP00000351875:p.Val155fs					ANKRD30B_uc010xak.1_RNA	p.V155fs	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			3	645	+			155			ANK 3.		B4DGP1|F8WAG3|Q4G175	Frame_Shift_Del	DEL	ENST00000358984.4	37	c.465delG	CCDS54182.1																																																																																				0.363	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		10	31	NA	NA	NA	NA	10	31	---	---	---	---
ASXL3	80816	broad.mit.edu	37	18	31319219	31319219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr18:31319219delC	ENST00000269197.5	+	11	1851	c.1851delC	c.(1849-1851)agcfs	p.S617fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	617	Ser-rich.				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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTTCTGAGAGCCCAGAGGGAG	0.473																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1849-1851)AGCfs		additional sex combs like 3							46.0	47.0	47.0					18																	31319219		1882	4105	5987	SO:0001589	frameshift_variant	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31319219delC	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.1851delC	18.37:g.31319219delC	ENSP00000269197:p.Ser617fs					ASXL3_uc002kxq.2_Frame_Shift_Del_p.S324fs	p.S617fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			11	1906	+			617			Ser-rich.		Q6ZMX6|Q96MU3|Q9UFC5	Frame_Shift_Del	DEL	ENST00000269197.5	37	c.1851delC	CCDS45847.1																																																																																				0.473	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			15	13	NA	NA	NA	NA	15	13	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12951880	12951880	+	Splice_Site	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:12951880delG	ENST00000251472.4	+	3	287	c.248delG	c.(247-249)agg>ag	p.R83fs	MAST1_ENST00000591495.1_Splice_Site_p.R79fs	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCTCCCGAAGGTGAGTCCCT	0.637																																						uc002mvm.2		NA																	0				ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(247-249)AGGfs		microtubule associated serine/threonine kinase							61.0	64.0	63.0					19																	12951880		2203	4300	6503	SO:0001630	splice_region_variant	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12951880delG	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.248+1G>-	19.37:g.12951880delG						MAST1_uc002mvk.2_Frame_Shift_Del_p.R79fs|MAST1_uc002mvl.2_Frame_Shift_Del_p.S83fs	p.R83fs	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			3	376	+			83						Frame_Shift_Del	DEL	ENST00000251472.4	37	c.248delG	CCDS32921.1																																																																																				0.637	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975	Frame_Shift_Del	25	67	NA	NA	NA	NA	25	67	---	---	---	---
CYP4F22	126410	broad.mit.edu	37	19	15651434	15651434	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:15651434delG	ENST00000269703.3	+	8	1044	c.845delG	c.(844-846)cggfs	p.R284fs	CYP4F22_ENST00000601005.2_Frame_Shift_Del_p.R284fs	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	284						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATCCAGGAACGGCGGCGGGCA	0.617																																						uc002nbh.3		NA																	0				ovary(1)|pancreas(1)	2						c.(844-846)CGGfs		cytochrome P450, family 4, subfamily F,							59.0	56.0	57.0					19																	15651434		2203	4300	6503	SO:0001589	frameshift_variant	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651434delG		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.845delG	19.37:g.15651434delG	ENSP00000269703:p.Arg284fs						p.R282fs	NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN			8	1012	+			282					Q8N8H4	Frame_Shift_Del	DEL	ENST00000269703.3	37	c.845delG	CCDS12331.1																																																																																				0.617	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	NM_173483		33	70	NA	NA	NA	NA	33	70	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22941185	22941186	+	Frame_Shift_Ins	INS	-	-	A	rs370191196		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:22941185_22941186insA	ENST00000596209.1	-	4	1615_1616	c.1525_1526insT	c.(1525-1527)tgcfs	p.C509fs	ZNF99_ENST00000397104.3_Frame_Shift_Ins_p.C418fs	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	509					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)				TTCACATTTGCAAGGTTTCTCT	0.351																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1252-1254)TGCfs		zinc finger protein 99																																				SO:0001589	frameshift_variant	7652							g.chr19:22941185_22941186insA	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.1526dupT	19.37:g.22941187_22941187dupA	ENSP00000472969:p.Cys509fs						p.C418fs	NM_001080409	NP_001073878					5	1252_1253	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Frame_Shift_Ins	INS	ENST00000596209.1	37	c.1252_1253insT	CCDS59369.1																																																																																				0.351	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		19	67	NA	NA	NA	NA	19	67	---	---	---	---
TTYH1	57348	broad.mit.edu	37	19	54933436	54933436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr19:54933436delC	ENST00000376530.3	+	4	593	c.490delC	c.(490-492)ccgfs	p.P164fs	TTYH1_ENST00000376531.3_Frame_Shift_Del_p.P164fs|TTYH1_ENST00000391739.3_Frame_Shift_Del_p.P213fs|TTYH1_ENST00000301194.4_Frame_Shift_Del_p.P164fs	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	164					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GGTGCTCGAGCCGCGCACGGA	0.716																																						uc002qfq.2		NA																	0					0						c.(490-492)CCGfs		tweety 1 isoform 1							11.0	11.0	11.0					19																	54933436		2161	4216	6377	SO:0001589	frameshift_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54933436delC	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.490delC	19.37:g.54933436delC	ENSP00000365713:p.Pro164fs					TTYH1_uc010yey.1_Frame_Shift_Del_p.P213fs|TTYH1_uc002qfr.2_Frame_Shift_Del_p.P164fs|TTYH1_uc002qft.2_Frame_Shift_Del_p.P164fs|TTYH1_uc002qfu.1_Frame_Shift_Del_p.P76fs	p.P164fs	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	4	582	+	Ovarian(34;0.19)		164			Extracellular (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Frame_Shift_Del	DEL	ENST00000376530.3	37	c.490delC	CCDS12893.1																																																																																				0.716	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			3	6	NA	NA	NA	NA	3	6	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63283445	63283446	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:63283445_63283446insT	ENST00000282549.2	+	5	1335_1336	c.1059_1060insT	c.(1060-1062)ttgfs	p.L354fs	OTX1_ENST00000366671.3_Frame_Shift_Ins_p.L354fs	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	354					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GGTTCCAGGTCTTGTGAGCCCA	0.604																																						uc002scd.2		NA																	0				pancreas(2)	2						c.(1057-1062)GTCTTGfs		orthodenticle homeobox 1																																				SO:0001589	frameshift_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63283445_63283446insT		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.1061dupT	2.37:g.63283447_63283447dupT	ENSP00000282549:p.Leu354fs					OTX1_uc010ypt.1_Frame_Shift_Ins_p.V287fs	p.V353fs	NM_014562	NP_055377	P32242	OTX1_HUMAN			5	1307_1308	+	Lung NSC(7;0.121)|all_lung(7;0.211)		353_354					A6NHA2|B3KTJ4|Q53TG6	Frame_Shift_Ins	INS	ENST00000282549.2	37	c.1059_1060insT	CCDS1873.1																																																																																				0.604	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			15	42	NA	NA	NA	NA	15	42	---	---	---	---
ANXA4	307	broad.mit.edu	37	2	70015233	70015233	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:70015233delG	ENST00000394295.4	+	3	305	c.57delG	c.(55-57)atgfs	p.M19fs	ANXA4_ENST00000536030.1_Intron|ANXA4_ENST00000409920.1_Frame_Shift_Del_p.M19fs	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	17					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCAATGCCATGGAAGATGCCC	0.532																																						uc002sfr.3		NA																	0					0						c.(55-57)ATGfs		annexin IV							145.0	126.0	133.0					2																	70015233		2203	4300	6503	SO:0001589	frameshift_variant	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70015233delG	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.57delG	2.37:g.70015233delG	ENSP00000377833:p.Met19fs					ANXA4_uc010yqn.1_RNA|ANXA4_uc002sfs.3_Frame_Shift_Del_p.M19fs|ANXA4_uc010yqo.1_Intron	p.M19fs	NM_001153	NP_001144	P09525	ANXA4_HUMAN			3	284	+			17					B4DDF9|Q96F33|Q9BWK1	Frame_Shift_Del	DEL	ENST00000394295.4	37	c.57delG	CCDS1894.1																																																																																				0.532	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		33	90	NA	NA	NA	NA	33	90	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212812196	212812196	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr2:212812196delC	ENST00000342788.4	-	3	690	c.380delG	c.(379-381)ggafs	p.G127fs	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Frame_Shift_Del_p.G127fs|ERBB4_ENST00000436443.1_Frame_Shift_Del_p.G127fs	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	127					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCCAAAGTTTCCATCTTTTCT	0.338										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(379-381)GGAfs		v-erb-a erythroblastic leukemia viral oncogene							118.0	115.0	116.0					2																	212812196		2203	4300	6503	SO:0001589	frameshift_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212812196delC	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.380delG	2.37:g.212812196delC	ENSP00000342235:p.Gly127fs	TSP Lung(8;0.080)				ERBB4_uc002veh.1_Frame_Shift_Del_p.G127fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.G127fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.G127fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.G127fs	p.G127fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	3	478	-		Renal(323;0.06)|Lung NSC(271;0.197)	127			Extracellular (Potential).		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Frame_Shift_Del	DEL	ENST00000342788.4	37	c.380delG	CCDS2394.1																																																																																				0.338	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		15	29	NA	NA	NA	NA	15	29	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)aagfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522																																						uc003eiv.2		NA																	0				ovary(1)	1						c.(2185-2187)AAGfs		ZXD family zinc finger C isoform 1							288.0	315.0	306.0					3																	126178522		2005	4167	6172	SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126178522delT	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2186delA	3.37:g.126178522delT	ENSP00000374359:p.Lys729fs					ZXDC_uc010hsh.2_Intron|ZXDC_uc003eix.2_3'UTR	p.K729fs	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2240	-			729					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Del	DEL	ENST00000389709.3	37	c.2186delA	CCDS43145.1																																																																																				0.522	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		8	878	NA	NA	NA	NA	8	878	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155303945	155303945	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:155303945delC	ENST00000340059.7	-	4	472	c.473delG	c.(472-474)ggtfs	p.G158fs	PLCH1_ENST00000460012.1_Frame_Shift_Del_p.G140fs|PLCH1_ENST00000447496.2_Frame_Shift_Del_p.G158fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.G140fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.G140fs|PLCH1_ENST00000494598.1_Frame_Shift_Del_p.G158fs	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	158	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAAGCCGTCACCATTCTTATC	0.403																																						uc011bok.1		NA																	0				skin(3)|ovary(1)	4						c.(472-474)GGTfs		phospholipase C eta 1 isoform a							119.0	112.0	114.0					3																	155303945		2203	4300	6503	SO:0001589	frameshift_variant	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155303945delC	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.473delG	3.37:g.155303945delC	ENSP00000345988:p.Gly158fs					PLCH1_uc011boj.1_Frame_Shift_Del_p.G158fs|PLCH1_uc011bol.1_Frame_Shift_Del_p.G140fs	p.G158fs	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		4	750	-			158			Potential.|EF-hand 1.		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Frame_Shift_Del	DEL	ENST00000340059.7	37	c.473delG	CCDS46939.1																																																																																				0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		24	88	NA	NA	NA	NA	24	88	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172607391	172607392	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:172607391_172607392insT	ENST00000351008.3	-	11	1861_1862	c.1678_1679insA	c.(1678-1680)atgfs	p.M560fs		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	560					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AAGTCGCTTCATTTTTGTTTTT	0.401																																						uc003fin.3		NA																	0				ovary(2)|skin(1)	3						c.(1678-1680)ATGfs		spermatogenesis associated 16																																				SO:0001589	frameshift_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172607391_172607392insT	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1679dupA	3.37:g.172607396_172607396dupT	ENSP00000341765:p.Met560fs						p.M560fs	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		11	1836_1837	-	Ovarian(172;0.00319)|Breast(254;0.197)		560					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Frame_Shift_Ins	INS	ENST00000351008.3	37	c.1678_1679insA	CCDS3221.1																																																																																				0.401	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	273	NA	NA	NA	NA	7	273	---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172607397	172607397	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr3:172607397delG	ENST00000351008.3	-	11	1856	c.1673delC	c.(1672-1674)acafs	p.T558fs		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	558					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTCATTTTTGTTTTTTGCCT	0.388																																						uc003fin.3		NA																	0				ovary(2)|skin(1)	3						c.(1672-1674)ACAfs		spermatogenesis associated 16							207.0	193.0	198.0					3																	172607397		2203	4300	6503	SO:0001589	frameshift_variant	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172607397delG	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1673delC	3.37:g.172607397delG	ENSP00000341765:p.Thr558fs						p.T558fs	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		11	1831	-	Ovarian(172;0.00319)|Breast(254;0.197)		558					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Frame_Shift_Del	DEL	ENST00000351008.3	37	c.1673delC	CCDS3221.1																																																																																				0.388	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	254	NA	NA	NA	NA	7	254	---	---	---	---
GAK	2580	broad.mit.edu	37	4	860744	860745	+	Splice_Site	INS	-	-	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:860744_860745insA	ENST00000314167.4	-	21	2981_2982	c.2871_2872insT	c.(2869-2874)gctgct>gctTgct	p.A958fs	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Splice_Site_p.A879fs	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	958					cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AAACACGTACCAGCGGCAGGGG	0.629																																						uc003gbm.3		NA																	0				lung(2)|central_nervous_system(1)|skin(1)	4						c.(2869-2874)GCTGCTfs		cyclin G associated kinase																																				SO:0001630	splice_region_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:860744_860745insA	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2872+1->T	4.37:g.860745_860745dupA						GAK_uc003gbn.3_Frame_Shift_Ins_p.A878fs|GAK_uc010ibk.1_3'UTR|GAK_uc010ibi.2_Frame_Shift_Ins_p.A138fs|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Frame_Shift_Ins_p.A821fs	p.A957fs	NM_005255	NP_005246	O14976	GAK_HUMAN		Colorectal(103;0.219)	21	3070_3071	-			957_958					Q5U4P5|Q9BVY6	Frame_Shift_Ins	INS	ENST00000314167.4	37	c.2871_2872insT	CCDS3340.1																																																																																				0.629	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Frame_Shift_Ins	45	106	NA	NA	NA	NA	45	106	---	---	---	---
KIT	3815	broad.mit.edu	37	4	55598063	55598063	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr4:55598063delC	ENST00000288135.5	+	16	2357	c.2260delC	c.(2260-2262)cccfs	p.P754fs		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	754	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATGTGACTCCCGCCATCAT	0.468		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		0				soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(2260-2262)CCCfs		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						111.0	98.0	102.0					4																	55598063		2203	4299	6502	SO:0001589	frameshift_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55598063delC	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2260delC	4.37:g.55598063delC	ENSP00000288135:p.Pro754fs					KIT_uc010igs.2_Frame_Shift_Del_p.P750fs	p.P754fs	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	16	2347	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		754			Protein kinase.|Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Frame_Shift_Del	DEL	ENST00000288135.5	37	c.2260delC	CCDS3496.1																																																																																				0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			26	96	NA	NA	NA	NA	26	96	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	123983092	123983092	+	Frame_Shift_Del	DEL	G	G	-	rs200986042		TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:123983092delG	ENST00000306315.5	-	4	3420	c.2985delC	c.(2983-2985)cccfs	p.P995fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.P568fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	995	Ser-rich.						metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGTGGTAATAGGGAGAATGGG	0.463																																						uc003ktq.1		NA																	0				skin(3)|ovary(2)|lung(1)	6						c.(2983-2985)CCCfs		zinc finger protein 608							205.0	205.0	205.0					5																	123983092		2203	4300	6503	SO:0001589	frameshift_variant	57507					intracellular	zinc ion binding	g.chr5:123983092delG	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.2985delC	5.37:g.123983092delG	ENSP00000307746:p.Pro995fs					ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.P995fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.P995fs|ZNF608_uc003ktp.1_5'Flank	p.P995fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3108	-		all_cancers(142;0.186)|Prostate(80;0.081)	995			Ser-rich.		A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Frame_Shift_Del	DEL	ENST00000306315.5	37	c.2985delC	CCDS34219.1																																																																																				0.463	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		43	107	NA	NA	NA	NA	43	107	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176675254	176675254	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr5:176675254delG	ENST00000439151.2	+	11	4615	c.4570delG	c.(4570-4572)gggfs	p.G1524fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.G1255fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.G1255fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.G1421fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1524					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACACGATCCCGGGATGCCTGC	0.493			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(4570-4572)GGGfs		nuclear receptor binding SET domain protein 1							82.0	84.0	83.0					5																	176675254		2203	4300	6503	SO:0001589	frameshift_variant	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176675254delG	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4570delG	5.37:g.176675254delG	ENSP00000395929:p.Gly1524fs	HNSCC(47;0.14)				NSD1_uc003mft.3_Frame_Shift_Del_p.G1255fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.G1421fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.G1172fs	p.G1524fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	11	4708	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1524					Q96PD8|Q96RN7	Frame_Shift_Del	DEL	ENST00000439151.2	37	c.4570delG	CCDS4412.1																																																																																				0.493	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		10	21	NA	NA	NA	NA	10	21	---	---	---	---
PRIM2	5558	broad.mit.edu	37	6	57512607	57512607	+	3'UTR	DEL	A	A	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr6:57512607delA	ENST00000389488.2	+	0	1522				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAGTGTCCAGAAAACCAAGGA	0.403																																						uc003pdx.2		NA																	0					0						c.(1435-1437)AAAfs		DNA primase polypeptide 2							411.0	391.0	397.0					6																	57512607		1961	4153	6114	SO:0001624	3_prime_UTR_variant	5558				DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding	g.chr6:57512607delA		CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1519A>-	6.37:g.57512607delA							p.K479fs	NM_000947	NP_000938	P49643	PRI2_HUMAN		Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)	15	1522	+			479					Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Frame_Shift_Del	DEL	ENST00000389488.2	37	c.1435delA																																																																																					0.403	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3	NM_000947		49	603	NA	NA	NA	NA	49	603	---	---	---	---
ESCO2	157570	broad.mit.edu	37	8	27641568	27641569	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr8:27641568_27641569insA	ENST00000305188.8	+	5	1245_1246	c.1007_1008insA	c.(1006-1011)tcaaaafs	p.SK336fs	ESCO2_ENST00000397418.2_Intron	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	336					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCAGTCAATTCAAAAAGGTGAG	0.351									SC Phocomelia syndrome																													uc003xgg.2		NA																	0				central_nervous_system(1)	1						c.(1006-1008)TCAfs		establishment of cohesion 1 homolog 2																																				SO:0001589	frameshift_variant	157570	SC_Phocomelia_syndrome	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr8:27641568_27641569insA	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"""Roberts syndrome"", ""establishment of cohesion 1 homolog 2 (S. cerevisiae)"""	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.1012dupA	8.37:g.27641573_27641573dupA	ENSP00000306999:p.Ser336fs					ESCO2_uc010luy.1_Intron	p.S336fs	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)	5	1090_1091	+		Ovarian(32;0.000953)	336					B3KW59|Q49AP4	Frame_Shift_Ins	INS	ENST00000305188.8	37	c.1007_1008insA	CCDS34872.1																																																																																				0.351	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376276.1	NM_001017420		12	49	NA	NA	NA	NA	12	49	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35044685	35044686	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chr9:35044685_35044686insC	ENST00000312292.5	+	2	2106_2107	c.2059_2060insC	c.(2059-2061)gccfs	p.A687fs	C9orf131_ENST00000421362.2_Frame_Shift_Ins_p.A639fs|C9orf131_ENST00000354479.5_Frame_Shift_Ins_p.A614fs|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	687										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGAGCTCCCAGCCCCCAGCTCA	0.54																																						uc003zvw.2		NA																	0					0						c.(2059-2061)GCCfs		hypothetical protein LOC138724 isoform A																																				SO:0001589	frameshift_variant	138724							g.chr9:35044685_35044686insC	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2064dupC	9.37:g.35044690_35044690dupC	ENSP00000308279:p.Ala687fs					C9orf131_uc003zvu.2_Frame_Shift_Ins_p.A639fs|C9orf131_uc003zvv.2_Frame_Shift_Ins_p.A614fs|C9orf131_uc003zvx.2_Frame_Shift_Ins_p.A652fs	p.A687fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2088_2089	+	all_epithelial(49;0.22)		687					A6NLE6|E9PB26|Q86XC6|Q9UF74	Frame_Shift_Ins	INS	ENST00000312292.5	37	c.2059_2060insC	CCDS6572.2																																																																																				0.540	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		17	55	NA	NA	NA	NA	17	55	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31198490	31198490	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:31198490delA	ENST00000357033.4	-	69	10289	c.10083delT	c.(10081-10083)actfs	p.T3361fs	DMD_ENST00000359836.1_Frame_Shift_Del_p.T901fs|DMD_ENST00000378723.3_Frame_Shift_Del_p.T293fs|DMD_ENST00000378707.3_Frame_Shift_Del_p.T901fs|DMD_ENST00000378680.2_Frame_Shift_Del_p.T293fs|DMD_ENST00000343523.2_Frame_Shift_Del_p.T901fs|DMD_ENST00000474231.1_Frame_Shift_Del_p.T901fs|DMD_ENST00000378677.2_Frame_Shift_Del_p.T3357fs|DMD_ENST00000378702.4_Frame_Shift_Del_p.T293fs|DMD_ENST00000361471.4_Frame_Shift_Del_p.T293fs|DMD_ENST00000541735.1_Frame_Shift_Del_p.T901fs	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3361	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACTTACCGGAGTGCAATATT	0.408																																						uc004dda.1		NA																	0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(10081-10083)ACTfs		dystrophin Dp427m isoform							117.0	99.0	105.0					X																	31198490		2202	4300	6502	SO:0001589	frameshift_variant	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31198490delA	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10083delT	X.37:g.31198490delA	ENSP00000354923:p.Thr3361fs					DMD_uc004dcq.1_Frame_Shift_Del_p.T632fs|DMD_uc004dcr.1_Frame_Shift_Del_p.T901fs|DMD_uc004dcs.1_Frame_Shift_Del_p.T901fs|DMD_uc004dct.1_Frame_Shift_Del_p.T901fs|DMD_uc004dcu.1_Frame_Shift_Del_p.T901fs|DMD_uc004dcv.1_Frame_Shift_Del_p.T901fs|DMD_uc004dcw.2_Frame_Shift_Del_p.T2017fs|DMD_uc004dcx.2_Frame_Shift_Del_p.T2020fs|DMD_uc004dcz.2_Frame_Shift_Del_p.T3238fs|DMD_uc004dcy.1_Frame_Shift_Del_p.T3357fs|DMD_uc004ddb.1_Frame_Shift_Del_p.T3353fs|DMD_uc004dcm.1_Frame_Shift_Del_p.T293fs|DMD_uc004dcn.1_Frame_Shift_Del_p.T293fs|DMD_uc004dco.1_Frame_Shift_Del_p.T293fs|DMD_uc004dcp.1_Frame_Shift_Del_p.T293fs|DMD_uc011mkb.1_Frame_Shift_Del_p.T293fs|DMD_uc010ngm.2_Frame_Shift_Del_p.T293fs	p.T3361fs	NM_004006	NP_003997	P11532	DMD_HUMAN			69	10327	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3361			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	c.10083delT	CCDS14233.1																																																																																				0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		9	12	NA	NA	NA	NA	9	12	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70469326	70469327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:70469326_70469327insT	ENST00000353904.2	-	7	1641_1642	c.1454_1455insA	c.(1453-1455)ttgfs	p.L485fs	ZMYM3_ENST00000373984.3_Frame_Shift_Ins_p.L487fs|ZMYM3_ENST00000373998.1_Frame_Shift_Ins_p.L485fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373982.1_Frame_Shift_Ins_p.L487fs|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000314425.5_Frame_Shift_Ins_p.L485fs|ZMYM3_ENST00000373988.1_Frame_Shift_Ins_p.L487fs|ZMYM3_ENST00000373981.1_Frame_Shift_Ins_p.L485fs	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	485					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGTACGCCCCCAAGCAGGTTGT	0.564																																						uc004dzh.1		NA																	0				ovary(1)	1						c.(1453-1455)TTGfs		zinc finger protein 261																																				SO:0001589	frameshift_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70469326_70469327insT	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1454_1455insA	X.37:g.70469326_70469327insT	ENSP00000343909:p.Leu485fs					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Frame_Shift_Ins_p.L485fs|ZMYM3_uc004dzj.1_Frame_Shift_Ins_p.L485fs|ZMYM3_uc011mpu.1_Frame_Shift_Ins_p.L216fs|ZMYM3_uc004dzk.3_Frame_Shift_Ins_p.L485fs|ZMYM3_uc004dzl.3_Frame_Shift_Ins_p.L485fs|ZMYM3_uc004dzm.3_Frame_Shift_Ins_p.L485fs	p.L485fs	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			7	1541_1542	-	Renal(35;0.156)		485			MYM-type 4.		D3DVV3|O15089|Q96E26	Frame_Shift_Ins	INS	ENST00000353904.2	37	c.1454_1455insA	CCDS14409.1																																																																																				0.564	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		6	7	NA	NA	NA	NA	6	7	---	---	---	---
L1CAM	3897	broad.mit.edu	37	X	153132315	153132315	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7402-01A-11D-2012-08	TCGA-CR-7402-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	015b1cc4-6fa5-43c1-9444-4a1af7663f7e	c9ec8ba4-bfa2-4054-82e0-06344d3023e1	g.chrX:153132315delC	ENST00000370060.1	-	19	2409	c.2220delG	c.(2218-2220)tggfs	p.W740fs	L1CAM_ENST00000361699.4_Frame_Shift_Del_p.W740fs|L1CAM_ENST00000538883.1_Frame_Shift_Del_p.W742fs|L1CAM_ENST00000361981.3_Frame_Shift_Del_p.W735fs|L1CAM_ENST00000370057.3_Frame_Shift_Del_p.W740fs|L1CAM_ENST00000543994.1_Frame_Shift_Del_p.W742fs|L1CAM_ENST00000370055.1_Frame_Shift_Del_p.W735fs	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	740	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCCATCCACCGGAGCG	0.652																																						uc004fjb.2		NA																	0				ovary(8)|central_nervous_system(1)	9						c.(2218-2220)TGGfs		L1 cell adhesion molecule isoform 1 precursor							29.0	30.0	30.0					X																	153132315		2203	4300	6503	SO:0001589	frameshift_variant	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153132315delC	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.2220delG	X.37:g.153132315delC	ENSP00000359077:p.Trp740fs					L1CAM_uc004fjc.2_Frame_Shift_Del_p.W740fs|L1CAM_uc010nuo.2_Frame_Shift_Del_p.W735fs	p.W740fs	NM_000425	NP_000416	P32004	L1CAM_HUMAN			18	2328	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		740			Extracellular (Potential).|Fibronectin type-III 2.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Frame_Shift_Del	DEL	ENST00000370060.1	37	c.2220delG	CCDS14733.1																																																																																				0.652	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		25	17	NA	NA	NA	NA	25	17	---	---	---	---
