#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_ACHILLES_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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRDM16	63976	broad.mit.edu	37	1	3328444	3328444	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:3328444C>T	ENST00000270722.5	+	9	1732	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Silent_p.A561A|PRDM16_ENST00000442529.2_Silent_p.A561A|PRDM16_ENST00000511072.1_Silent_p.A562A|PRDM16_ENST00000514189.1_Silent_p.A562A|PRDM16_ENST00000441472.2_Silent_p.A561A|PRDM16_ENST00000378398.3_Silent_p.A562A			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	561					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)	p.A561A(1)		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)		TGGTCTCCGCCGTCAGCAACA	0.667			T	EVI1	"""MDS, AML"""																																		uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(1681-1683)GCC>GCT		PR domain containing 16 isoform 1							27.0	37.0	33.0					1																	3328444		1990	4146	6136	SO:0001819	synonymous_variant	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.chr1:3328444C>T	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.1683C>T	1.37:g.3328444C>T						PRDM16_uc001akc.2_Silent_p.A561A|PRDM16_uc001akd.2_Silent_p.A561A|PRDM16_uc001ake.2_Silent_p.A561A|PRDM16_uc009vlh.2_Silent_p.A262A	p.A561A	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)	9	1763	+	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)	561					A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.1683C>T	CCDS41236.2																																																																																				0.667	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		5	48	0	0	0	0.000602	0	5	48				
NOL9	79707	broad.mit.edu	37	1	6585920	6585920	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:6585920C>T	ENST00000377705.5	-	12	2135	c.2103G>A	c.(2101-2103)atG>atA	p.M701I		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	701					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.M701I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AGCATCACTTCATTTTTCGAC	0.418																																							uc001ans.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2101-2103)ATG>ATA		nucleolar protein 9							194.0	186.0	189.0					1																	6585920		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6585920C>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.2103G>A	1.37:g.6585920C>T	ENSP00000366934:p.Met701Ile					NOL9_uc010nzs.1_RNA	p.M701I	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	12	2122	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	701					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.2103G>A	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	5.733	0.319700	0.10845	.	.	ENSG00000162408	ENST00000377705	T	0.16196	2.36	4.86	-6.73	0.01749	.	3.660980	0.00706	N	0.000807	T	0.05456	0.0144	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28713	-1.0035	10	0.07644	T	0.81	5.4673	4.2636	0.10752	0.1237:0.4998:0.1261:0.2504	.	701	Q5SY16	NOL9_HUMAN	I	701	ENSP00000366934:M701I	ENSP00000366934:M701I	M	-	3	0	NOL9	6508507	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.817000	0.04472	-1.422000	0.02004	-0.251000	0.11542	ATG		0.418	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		13	190	0	0	0	0.00245	0	13	190				
NOL9	79707	broad.mit.edu	37	1	6585979	6585979	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:6585979C>T	ENST00000377705.5	-	12	2076	c.2044G>A	c.(2044-2046)Gaa>Aaa	p.E682K		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	682					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)	p.E682K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCAGGTTCTCTTGCTCCA	0.418																																							uc001ans.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2044-2046)GAA>AAA		nucleolar protein 9							171.0	168.0	169.0					1																	6585979		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6585979C>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.2044G>A	1.37:g.6585979C>T	ENSP00000366934:p.Glu682Lys					NOL9_uc010nzs.1_RNA	p.E682K	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	12	2063	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	682					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.2044G>A	CCDS80.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.422985	0.25639	.	.	ENSG00000162408	ENST00000377705	T	0.22134	1.97	4.77	2.74	0.32292	.	0.162237	0.39985	N	0.001216	T	0.11024	0.0269	L	0.27053	0.805	0.29089	N	0.882203	B	0.28082	0.2	B	0.21917	0.037	T	0.14420	-1.0473	10	0.20519	T	0.43	-9.7119	5.7535	0.18160	0.0:0.7569:0.0:0.2431	.	682	Q5SY16	NOL9_HUMAN	K	682	ENSP00000366934:E682K	ENSP00000366934:E682K	E	-	1	0	NOL9	6508566	0.992000	0.36948	0.985000	0.45067	0.342000	0.28953	0.875000	0.28079	1.238000	0.43771	0.655000	0.94253	GAA		0.418	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		14	170	0	0	0	0.001855	0	14	170				
DFFA	1676	broad.mit.edu	37	1	10527261	10527261	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:10527261C>G	ENST00000377038.3	-	3	494	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	DFFA_ENST00000377036.2_Missense_Mutation_p.E143Q	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	143					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E143Q(2)		large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGGTCCTCCTCTGATAGGAGG	0.532																																							uc001arj.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(427-429)GAG>CAG		DNA fragmentation factor, 45kDa, alpha							142.0	135.0	137.0					1																	10527261		2203	4300	6503	SO:0001583	missense	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10527261C>G	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.427G>C	1.37:g.10527261C>G	ENSP00000366237:p.Glu143Gln					DFFA_uc001ark.2_Missense_Mutation_p.E143Q	p.E143Q	NM_004401	NP_004392	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	3	525	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	143					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	c.427G>C	CCDS118.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.297836	0.40694	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.68	4.77	0.60923	DNA fragmentation factor 45kDa, C-terminal (2);	0.045744	0.85682	D	0.000000	T	0.77096	0.4080	M	0.70275	2.135	0.52099	D	0.999943	D;D	0.76494	0.982;0.999	P;D	0.71184	0.726;0.972	T	0.79867	-0.1622	9	0.66056	D	0.02	-17.2621	14.6101	0.68510	0.0:0.93:0.0:0.07	.	143;143	O00273-2;O00273	.;DFFA_HUMAN	Q	143	.	ENSP00000366235:E143Q	E	-	1	0	DFFA	10449848	0.999000	0.42202	0.912000	0.35992	0.009000	0.06853	4.546000	0.60705	1.417000	0.47077	-0.142000	0.14014	GAG		0.532	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		10	92	0	0	0	0.006214	0	10	92				
ACTL8	81569	broad.mit.edu	37	1	18152600	18152600	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:18152600G>A	ENST00000375406.1	+	3	903	c.687G>A	c.(685-687)caG>caA	p.Q229Q		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	229					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q229Q(1)|p.Q229H(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		AGAGGCAGCAGAGTGCCTTGG	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001bat.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(4)	4						c.(685-687)CAG>CAA		actin-like 8							50.0	54.0	52.0					1																	18152600		2203	4300	6503	SO:0001819	synonymous_variant	81569					cytoplasm|cytoskeleton		g.chr1:18152600G>A	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.687G>A	1.37:g.18152600G>A			OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.Q229Q	NM_030812	NP_110439	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	903	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	229					Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	c.687G>A	CCDS183.1																																																																																				0.607	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		5	59	0	0	0	0.001168	0	5	59				
TIE1	7075	broad.mit.edu	37	1	43775098	43775098	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:43775098G>C	ENST00000372476.3	+	9	1307	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	TIE1_ENST00000441333.2_Nonstop_Mutation_p.*318S|TIE1_ENST00000433781.2_Missense_Mutation_p.E55Q	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	410	Ig-like C2-type 2.				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)	p.E410Q(1)		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)				GACCACAGCTGAGTTCGAGGT	0.607																																							uc001ciu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1228-1230)GAG>CAG		tyrosine kinase with immunoglobulin-like and							142.0	127.0	132.0					1																	43775098		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43775098G>C	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	ENST00000372476.3:c.1228G>C	1.37:g.43775098G>C	ENSP00000361554:p.Glu410Gln					TIE1_uc010okd.1_Missense_Mutation_p.E410Q|TIE1_uc010oke.1_Missense_Mutation_p.E365Q|TIE1_uc009vwq.2_Missense_Mutation_p.E366Q|TIE1_uc010okf.1_Missense_Mutation_p.E55Q|TIE1_uc010okg.1_Missense_Mutation_p.E55Q|TIE1_uc010okc.1_Nonstop_Mutation_p.*318S	p.E410Q	NM_005424	NP_005415	P35590	TIE1_HUMAN			9	1307	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	410			Ig-like C2-type 2.|Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1228G>C	CCDS482.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.833949|3.833949	0.71373|0.71373	.|.	.|.	ENSG00000066056|ENSG00000066056	ENST00000372476;ENST00000433781|ENST00000441333	T;T|.	0.41400|.	1.0;1.0|.	4.87|4.87	4.87|4.87	0.63330|0.63330	Immunoglobulin-like fold (1);|.	0.000000|.	0.40728|.	N|.	0.001039|.	T|.	0.65375|.	0.2685|.	L|L	0.50333|0.50333	1.59|1.59	0.37331|0.37331	D|D	0.909986|0.909986	P;D;D;P;D|.	0.89917|.	0.949;0.959;1.0;0.915;0.967|.	P;P;D;B;P|.	0.87578|.	0.602;0.723;0.998;0.397;0.834|.	T|.	0.67776|.	-0.5583|.	10|.	0.27785|.	T|.	0.31|.	.|.	18.0168|18.0168	0.89243|0.89243	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	55;365;410;55;410|.	E9PG63;B4DTW8;B5A952;B4DKW0;P35590|.	.;.;.;.;TIE1_HUMAN|.	Q|S	410;55|318	ENSP00000361554:E410Q;ENSP00000411728:E55Q|.	ENSP00000361554:E410Q|.	E|X	+|+	1|2	0|2	TIE1|TIE1	43547685|43547685	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.965000|0.965000	0.64279|0.64279	2.751000|2.751000	0.47508|0.47508	2.252000|2.252000	0.74401|0.74401	0.563000|0.563000	0.77884|0.77884	GAG|TGA		0.607	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		5	29	0	0	0	0.001168	0	5	29				
GLIS1	148979	broad.mit.edu	37	1	54060157	54060157	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:54060157C>T	ENST00000312233.2	-	3	985	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_147193.2	NP_671726.2			GLIS family zinc finger 1									p.R140Q(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTCGCCTTCCGGCAGGCTTC	0.657																																							uc001cvr.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(418-420)CGG>CAG		GLIS family zinc finger 1							23.0	27.0	25.0					1																	54060157		2201	4291	6492	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060157C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.419G>A	1.37:g.54060157C>T	ENSP00000309653:p.Arg140Gln						p.R140Q	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	986	-			140						Missense_Mutation	SNP	ENST00000312233.2	37	c.419G>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484284	0.44147	.	.	ENSG00000174332	ENST00000312233	T	0.09817	2.94	5.07	3.16	0.36331	.	0.483471	0.17659	N	0.166402	T	0.06280	0.0162	L	0.27053	0.805	0.26037	N	0.981654	B	0.15719	0.014	B	0.06405	0.002	T	0.39014	-0.9634	10	0.12103	T	0.63	.	6.3898	0.21581	0.0:0.6196:0.0:0.3804	.	140	Q8NBF1	GLIS1_HUMAN	Q	140	ENSP00000309653:R140Q	ENSP00000309653:R140Q	R	-	2	0	GLIS1	53832745	0.817000	0.29147	0.957000	0.39632	0.943000	0.58893	0.461000	0.21940	1.285000	0.44548	0.462000	0.41574	CGG		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		4	38	0	0	0	0.009096	0	4	38				
C8A	731	broad.mit.edu	37	1	57347292	57347292	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:57347292G>A	ENST00000361249.3	+	5	735	c.639G>A	c.(637-639)ctG>ctA	p.L213L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	213	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)		p.L213L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ACAACTTTCTGAAGTACCACT	0.478																																							uc001cyo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(637-639)CTG>CTA		complement component 8, alpha polypeptide							85.0	86.0	86.0					1																	57347292		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57347292G>A	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.639G>A	1.37:g.57347292G>A							p.L213L	NM_000562	NP_000553	P07357	CO8A_HUMAN			5	771	+			213			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.639G>A	CCDS606.1																																																																																				0.478	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		12	84	0	0	0	0.001368	0	12	84				
LPHN2	23266	broad.mit.edu	37	1	82456132	82456132	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:82456132G>T	ENST00000370728.1	+	25	4328	c.3683G>T	c.(3682-3684)gGt>gTt	p.G1228V	LPHN2_ENST00000370730.1_Missense_Mutation_p.G1185V|LPHN2_ENST00000370717.2_Missense_Mutation_p.G1243V|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000359929.3_Missense_Mutation_p.G1172V|LPHN2_ENST00000370727.1_Missense_Mutation_p.G1200V|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000335786.5_Missense_Mutation_p.G1185V|LPHN2_ENST00000394879.1_Missense_Mutation_p.G1230V|LPHN2_ENST00000370721.1_Missense_Mutation_p.G1153V|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.G1200V|LPHN2_ENST00000370723.1_Missense_Mutation_p.G1230V|LPHN2_ENST00000370725.1_Missense_Mutation_p.G1243V|LPHN2_ENST00000319517.6_Missense_Mutation_p.G1172V			O95490	LPHN2_HUMAN	latrophilin 2	1228					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.G1243V(1)|p.G1172V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CCGCTAAATGGTAATTTTAAC	0.433																																							uc001dit.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(3514-3516)GGT>GTT		latrophilin 2 precursor							140.0	134.0	136.0					1																	82456132		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456132G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3683G>T	1.37:g.82456132G>T	ENSP00000359763:p.Gly1228Val					LPHN2_uc001dis.2_Missense_Mutation_p.G152V|LPHN2_uc001diu.2_Missense_Mutation_p.G1172V|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.G799V	p.G1172V	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	21	3696	+			1228			Cytoplasmic (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3515G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	19.11|19.11|19.11	3.763113|3.763113|3.763113	0.69763|0.69763|0.69763	.|.|.	.|.|.	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420|ENST00000402328	T;T;T;T;T;T;T;T;T;T;T;T|.|.	0.79749|.|.	-1.12;-1.19;-1.3;-1.16;-1.11;-1.02;-1.22;-1.22;-1.11;-1.02;-1.16;-1.3|.|.	5.32|5.32|5.32	5.32|5.32|5.32	0.75619|0.75619|0.75619	.|.|.	0.123049|.|.	0.53938|.|.	D|.|.	0.000055|.|.	T|T|T	0.67449|0.67449|0.67449	0.2894|0.2894|0.2894	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	0.999;1.0|.|.	D;D|.|.	0.91635|.|.	0.969;0.999|.|.	T|T|T	0.65401|0.65401|0.65401	-0.6177|-0.6177|-0.6177	10|5|5	0.56958|.|.	D|.|.	0.05|.|.	.|.|.	19.0135|19.0135|19.0135	0.92884|0.92884|0.92884	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1172;152|.|.	O95490-2;B3KVU1|.|.	.;.|.|.	V|L|C	1153;1228;1185;1200;1243;1230;1172;1172;1243;1230;1200;1185|1120|239	ENSP00000359756:G1153V;ENSP00000359763:G1228V;ENSP00000359765:G1185V;ENSP00000359762:G1200V;ENSP00000359760:G1243V;ENSP00000359758:G1230V;ENSP00000353006:G1172V;ENSP00000322270:G1172V;ENSP00000359752:G1243V;ENSP00000378344:G1230V;ENSP00000271029:G1200V;ENSP00000337306:G1185V|.|.	ENSP00000271029:G1200V|.|.	G|V|W	+|+|+	2|1|3	0|0|0	LPHN2|LPHN2|LPHN2	82228720|82228720|82228720	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	9.444000|9.444000|9.444000	0.97578|0.97578|0.97578	2.477000|2.477000|2.477000	0.83638|0.83638|0.83638	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGT|GTA|TGG		0.433	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		17	129	1	0	2.5808e-16	0.006122	3.66335e-16	17	129				
WDR63	126820	broad.mit.edu	37	1	85559237	85559237	+	Silent	SNP	C	C	G	rs371237829		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:85559237C>G	ENST00000294664.6	+	9	1134	c.954C>G	c.(952-954)acC>acG	p.T318T	WDR63_ENST00000326813.8_Silent_p.T279T|WDR63_ENST00000370596.1_Silent_p.T279T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	318								p.T318T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGGACAAGACCGATACCCACC	0.438																																							uc001dkt.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5						c.(952-954)ACC>ACG		WD repeat domain 63							188.0	176.0	180.0					1																	85559237		2203	4300	6503	SO:0001819	synonymous_variant	126820							g.chr1:85559237C>G		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.954C>G	1.37:g.85559237C>G						WDR63_uc009wcl.2_Silent_p.T279T	p.T318T	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN		all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)	9	1145	+			318					A8K988|Q96L72|Q96NU4	Silent	SNP	ENST00000294664.6	37	c.954C>G	CCDS702.1																																																																																				0.438	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027565.2	NM_145172		11	136	0	0	0	0.001368	0	11	136				
DNTTIP2	30836	broad.mit.edu	37	1	94337653	94337653	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:94337653C>T	ENST00000436063.2	-	5	2099	c.2042G>A	c.(2041-2043)aGa>aAa	p.R681K		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	681					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R681K(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		GAAGCCATCTCTATCATTTTT	0.373																																							uc001dqf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(2041-2043)AGA>AAA		deoxynucleotidyltransferase, terminal,							284.0	278.0	280.0					1																	94337653		1860	4109	5969	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94337653C>T	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.2042G>A	1.37:g.94337653C>T	ENSP00000411010:p.Arg681Lys					DNTTIP2_uc010otm.1_RNA	p.R681K	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	5	2080	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	681					Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.2042G>A	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182440	0.94885	.	.	ENSG00000067334	ENST00000436063	T	0.37584	1.19	6.02	5.1	0.69264	Fcf2 pre-rRNA processing (1);	0.000000	0.85682	D	0.000000	T	0.38453	0.1041	L	0.38649	1.16	0.58432	D	0.999994	D	0.76494	0.999	D	0.74674	0.984	T	0.23833	-1.0177	10	0.40728	T	0.16	.	15.1595	0.72771	0.0:0.9326:0.0:0.0674	.	681	Q5QJE6	TDIF2_HUMAN	K	681	ENSP00000411010:R681K	ENSP00000411010:R681K	R	-	2	0	DNTTIP2	94110241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.430000	0.80321	1.544000	0.49359	0.650000	0.86243	AGA		0.373	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		33	315	0	0	0	0.002836	0	33	315				
DNTTIP2	30836	broad.mit.edu	37	1	94337751	94337751	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:94337751C>G	ENST00000436063.2	-	5	2001	c.1944G>C	c.(1942-1944)atG>atC	p.M648I		NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	648				M -> I (in Ref. 6; BAD96442). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.M648I(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CTGGAGCTTTCATACCAAACC	0.343																																							uc001dqf.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1942-1944)ATG>ATC		deoxynucleotidyltransferase, terminal,							143.0	134.0	137.0					1																	94337751		1835	4085	5920	SO:0001583	missense	30836				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr1:94337751C>G	AY394925	CCDS44174.1	1p22.1	2008-02-05			ENSG00000067334	ENSG00000067334			24013	protein-coding gene	gene with protein product	"""acidic 82 kDa protein mRNA"""	611199				15047147	Standard	NM_014597		Approved	HSU15552, ERBP, TdIF2	uc001dqf.3	Q5QJE6	OTTHUMG00000010268	ENST00000436063.2:c.1944G>C	1.37:g.94337751C>G	ENSP00000411010:p.Met648Ile					DNTTIP2_uc010otm.1_RNA	p.M648I	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)	5	1982	-		all_lung(203;0.0111)|Lung NSC(277;0.0347)	648	M -> I (in Ref. 6; BAD96442).				Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9	Missense_Mutation	SNP	ENST00000436063.2	37	c.1944G>C	CCDS44174.1	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337115	0.60963	.	.	ENSG00000067334	ENST00000436063	T	0.47869	0.83	6.02	6.02	0.97574	Fcf2 pre-rRNA processing (1);	0.040846	0.85682	D	0.000000	T	0.65365	0.2684	M	0.73962	2.25	0.58432	D	0.999999	D	0.76494	0.999	D	0.76071	0.987	T	0.65253	-0.6213	10	0.59425	D	0.04	.	18.7178	0.91682	0.0:1.0:0.0:0.0	.	648	Q5QJE6	TDIF2_HUMAN	I	648	ENSP00000411010:M648I	ENSP00000411010:M648I	M	-	3	0	DNTTIP2	94110339	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.472000	0.80996	2.857000	0.98124	0.650000	0.86243	ATG		0.343	DNTTIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028317.2	NM_014597		7	137	0	0	0	0.00308	0	7	137				
CNN3	1266	broad.mit.edu	37	1	95368680	95368680	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:95368680G>A	ENST00000370206.4	-	3	627	c.244C>T	c.(244-246)Cag>Tag	p.Q82*	CNN3_ENST00000538964.1_Nonsense_Mutation_p.Q82*|CNN3_ENST00000394202.4_Nonsense_Mutation_p.Q82*|CNN3_ENST00000545882.1_Nonsense_Mutation_p.Q41*|CNN3_ENST00000487539.1_5'UTR	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	82	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)		p.Q82*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		GCTGTTACCTGAGGCCAGTTC	0.383																																							uc010otw.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(244-246)CAG>TAG		calponin 3							97.0	94.0	95.0					1																	95368680		2203	4300	6503	SO:0001587	stop_gained	1266				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding	g.chr1:95368680G>A	BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.244C>T	1.37:g.95368680G>A	ENSP00000359225:p.Gln82*					CNN3_uc010otv.1_Nonsense_Mutation_p.Q41*|CNN3_uc001dqz.3_Nonsense_Mutation_p.Q82*|CNN3_uc010otx.1_Nonsense_Mutation_p.Q82*	p.Q82*	NM_001839	NP_001830	Q15417	CNN3_HUMAN		all cancers(265;0.0325)|Epithelial(280;0.0861)	4	326	-		all_lung(203;0.00206)|Lung NSC(277;0.00948)	82			CH.		B4DFK6|B4DP09|F8WA86|Q6FHA7	Nonsense_Mutation	SNP	ENST00000370206.4	37	c.244C>T	CCDS30775.1	.	.	.	.	.	.	.	.	.	.	G	37	5.982740	0.97173	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202;ENST00000545882;ENST00000415017	.	.	.	5.61	5.61	0.85477	.	0.053997	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.9223	14.4753	0.67541	0.0:0.0:0.8531:0.1469	.	.	.	.	X	82;82;82;41;41	.	ENSP00000359225:Q82X	Q	-	1	0	CNN3	95141268	1.000000	0.71417	0.999000	0.59377	0.538000	0.34931	3.285000	0.51716	2.637000	0.89404	0.655000	0.94253	CAG		0.383	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029702.2	NM_001839		9	84	0	0	0	0.006214	0	9	84				
PRPF38B	55119	broad.mit.edu	37	1	109242068	109242068	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:109242068G>C	ENST00000370025.4	+	6	1336	c.1067G>C	c.(1066-1068)aGa>aCa	p.R356T	PRPF38B_ENST00000370021.1_Missense_Mutation_p.R245T	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	356	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R356T(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		gatcgagaaagagagaaagaa	0.478																																							uc001dvv.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)AGA>ACA		PRP38 pre-mRNA processing factor 38 (yeast)							40.0	38.0	39.0					1																	109242068		2203	4300	6503	SO:0001583	missense	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242068G>C	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1067G>C	1.37:g.109242068G>C	ENSP00000359042:p.Arg356Thr					PRPF38B_uc001dvw.3_Missense_Mutation_p.R245T|PRPF38B_uc010ouz.1_Missense_Mutation_p.R159T	p.R356T	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	6	1349	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	356			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Missense_Mutation	SNP	ENST00000370025.4	37	c.1067G>C	CCDS788.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820617	0.32145	.	.	ENSG00000134186	ENST00000370025;ENST00000370021	T;T	0.13196	4.03;2.61	5.39	5.39	0.77823	.	0.114922	0.64402	D	0.000012	T	0.04318	0.0119	N	0.14661	0.345	0.54753	D	0.999982	P	0.37781	0.608	B	0.37943	0.261	T	0.30563	-0.9974	10	0.49607	T	0.09	.	11.0622	0.47955	0.1448:0.0:0.8552:0.0	.	356	Q5VTL8	PR38B_HUMAN	T	356;245	ENSP00000359042:R356T;ENSP00000359038:R245T	ENSP00000359038:R245T	R	+	2	0	PRPF38B	109043591	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.244000	0.78228	2.698000	0.92095	0.591000	0.81541	AGA		0.478	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		3	18	0	0	0	0.004672	0	3	18				
PDE4DIP	9659	broad.mit.edu	37	1	144865913	144865913	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:144865913G>A	ENST00000369354.3	-	35	5856	c.5667C>T	c.(5665-5667)ttC>ttT	p.F1889F	PDE4DIP_ENST00000369359.4_Silent_p.F2025F|PDE4DIP_ENST00000530740.1_Silent_p.F1974F|PDE4DIP_ENST00000369356.4_Silent_p.F1889F|PDE4DIP_ENST00000313382.9_Silent_p.F1783F|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1889					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)	p.F1889F(2)		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)		CCTGACTGTAGAAGTTAGAAG	0.458			T	PDGFRB	MPD																																		uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - coding silent(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(5665-5667)TTC>TTT		phosphodiesterase 4D interacting protein isoform							259.0	278.0	272.0					1																	144865913		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144865913G>A	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	ENST00000369354.3:c.5667C>T	1.37:g.144865913G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.F1783F|PDE4DIP_uc001elv.3_Silent_p.F896F|PDE4DIP_uc001ema.2_Silent_p.F76F	p.F1889F	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	35	5958	-			1889			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.5667C>T	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	0.602	-0.828661	0.02734	.	.	ENSG00000178104	ENST00000530130	.	.	.	5.72	3.52	0.40303	.	.	.	.	.	T	0.44117	0.1278	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41395	-0.9511	4	.	.	.	.	7.8875	0.29659	0.2713:0.0:0.7287:0.0	.	.	.	.	F	46	.	.	S	-	2	0	PDE4DIP	143577270	1.000000	0.71417	0.317000	0.25265	0.011000	0.07611	2.964000	0.49192	1.415000	0.47037	0.650000	0.86243	TCT		0.458	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		17	397	0	0	0	0.007413	0	17	397				
CGN	57530	broad.mit.edu	37	1	151509762	151509762	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:151509762C>T	ENST00000271636.7	+	21	3685	c.3552C>T	c.(3550-3552)taC>taT	p.Y1184Y		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1178	Tail.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.Y1184Y(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGTGTCTACGATCCCTCGT	0.537																																							uc009wmw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(3550-3552)TAC>TAT		cingulin							123.0	92.0	102.0					1																	151509762		2203	4300	6503	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151509762C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.3552C>T	1.37:g.151509762C>T						CGN_uc010pde.1_Silent_p.Y178Y	p.Y1184Y	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		21	3696	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1178			Tail.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.3552C>T	CCDS999.1																																																																																				0.537	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		4	54	0	0	0	0.001984	0	4	54				
SCAMP3	10067	broad.mit.edu	37	1	155228742	155228742	+	Missense_Mutation	SNP	C	C	T	rs143130366	byFrequency	TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:155228742C>T	ENST00000302631.3	-	5	499	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000355379.3_Missense_Mutation_p.R105Q	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	131					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)	p.R131Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATTGTTCTGTCGAGCTGTAAG	0.473																																							uc001fjs.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(391-393)CGA>CAA		secretory carrier membrane protein 3 isoform 1		C	GLN/ARG,GLN/ARG	4,4402		0,4,2199	94.0	98.0	97.0		392,314	3.9	1.0	1	dbSNP_134	97	3,8597		0,3,4297	no	missense,missense	SCAMP3	NM_005698.3,NM_052837.2	43,43	0,7,6496	TT,TC,CC		0.0349,0.0908,0.0538	probably-damaging,probably-damaging	131/348,105/322	155228742	7,12999	2203	4300	6503	SO:0001583	missense	10067				post-Golgi vesicle-mediated transport|protein transport	integral to membrane		g.chr1:155228742C>T	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.392G>A	1.37:g.155228742C>T	ENSP00000307275:p.Arg131Gln					RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Intron|SCAMP3_uc001fjv.2_Missense_Mutation_p.R131Q|SCAMP3_uc001fjt.2_Missense_Mutation_p.R105Q	p.R131Q	NM_005698	NP_005689	O14828	SCAM3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		5	645	-	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		131			Cytoplasmic (Potential).		A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	37	c.392G>A	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.212637	0.79240	9.08E-4	3.49E-4	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.17528	2.27;2.27	4.83	3.89	0.44902	.	0.000000	0.64402	D	0.000001	T	0.26412	0.0645	M	0.64170	1.965	0.49582	D	0.999807	P;D	0.89917	0.758;1.0	B;D	0.87578	0.249;0.998	T	0.00440	-1.1738	9	.	.	.	-14.013	11.3221	0.49428	0.0:0.9083:0.0:0.0917	.	105;131	O14828-2;O14828	.;SCAM3_HUMAN	Q	131;105	ENSP00000307275:R131Q;ENSP00000347540:R105Q	.	R	-	2	0	SCAMP3	153495366	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.710000	0.54860	2.504000	0.84457	0.655000	0.94253	CGA		0.473	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698		34	76	0	0	0	0.003755	0	34	76				
PKLR	5313	broad.mit.edu	37	1	155271149	155271149	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:155271149C>A	ENST00000342741.4	-	1	76	c.38G>T	c.(37-39)cGg>cTg	p.R13L	PKLR_ENST00000392414.3_5'Flank	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	13					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.R13L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GACCCATGACCGAAGCTGCAG	0.532																																							uc001fkb.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(37-39)CGG>CTG		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						140.0	127.0	131.0					1																	155271149		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155271149C>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.38G>T	1.37:g.155271149C>A	ENSP00000339933:p.Arg13Leu					RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_5'Flank|PKLR_uc010pga.1_5'Flank	p.R13L	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		1	77	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		13					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.38G>T	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	3.425	-0.117276	0.06838	.	.	ENSG00000143627	ENST00000423816;ENST00000342741	D	0.99515	-6.06	4.18	2.25	0.28309	.	0.333009	0.22207	N	0.063152	D	0.95056	0.8399	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	D	0.93254	0.6637	10	0.29301	T	0.29	-2.6455	9.2356	0.37464	0.3949:0.6051:0.0:0.0	.	13	P30613	KPYR_HUMAN	L	13	ENSP00000339933:R13L	ENSP00000339933:R13L	R	-	2	0	PKLR	153537773	0.816000	0.29132	0.107000	0.21349	0.033000	0.12548	1.083000	0.30815	0.673000	0.31224	-0.521000	0.04368	CGG		0.532	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		21	60	1	0	1.01871e-10	0.008871	1.36799e-10	21	60				
ASH1L	55870	broad.mit.edu	37	1	155317620	155317620	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:155317620C>T	ENST00000368346.3	-	20	8284	c.7645G>A	c.(7645-7647)Gag>Aag	p.E2549K	ASH1L_ENST00000392403.3_Missense_Mutation_p.E2544K|MIR555_ENST00000384987.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2549					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E2544K(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTGATGCCTCATGCCGGGCA	0.473																																							uc009wqq.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(7645-7647)GAG>AAG		absent, small, or homeotic 1-like							192.0	157.0	169.0					1																	155317620		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155317620C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.7645G>A	1.37:g.155317620C>T	ENSP00000357330:p.Glu2549Lys					RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Missense_Mutation_p.E2544K|MIR555_hsa-mir-555|MI0003561_5'Flank	p.E2549K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		20	8125	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		2549					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.7645G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.519214	0.96416	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.19105	2.17;2.17	5.4	5.4	0.78164	Bromodomain (3);	0.045945	0.85682	D	0.000000	T	0.06735	0.0172	N	0.08118	0	0.80722	D	1	B;P	0.36944	0.438;0.574	B;B	0.32624	0.071;0.149	T	0.19031	-1.0318	10	0.49607	T	0.09	.	18.9481	0.92630	0.0:1.0:0.0:0.0	.	2549;2544	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	K	2549;2544	ENSP00000357330:E2549K;ENSP00000376204:E2544K	ENSP00000357330:E2549K	E	-	1	0	ASH1L	153584244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.083000	0.76859	2.809000	0.96659	0.655000	0.94253	GAG		0.473	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		13	148	0	0	0	0.001855	0	13	148				
OR10K1	391109	broad.mit.edu	37	1	158435885	158435885	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:158435885C>T	ENST00000289451.2	+	1	614	c.534C>T	c.(532-534)ttC>ttT	p.F178F		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F178F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATCACTTCTTCTGTGACATCT	0.532																																							uc010pij.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(532-534)TTC>TTT		olfactory receptor, family 10, subfamily K,							213.0	209.0	210.0					1																	158435885		2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435885C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.534C>T	1.37:g.158435885C>T							p.F178F	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	534	+	all_hematologic(112;0.0378)		178			Extracellular (Potential).		Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.534C>T	CCDS30897.1																																																																																				0.532	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			56	152	0	0	0	0.00361	0	56	152				
OR10K1	391109	broad.mit.edu	37	1	158436017	158436017	+	Silent	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:158436017C>A	ENST00000289451.2	+	1	746	c.666C>A	c.(664-666)atC>atA	p.I222I		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I222I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCGCATCATCTCTGCCATTC	0.478																																							uc010pij.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(664-666)ATC>ATA		olfactory receptor, family 10, subfamily K,							130.0	118.0	122.0					1																	158436017		2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158436017C>A	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.666C>A	1.37:g.158436017C>A							p.I222I	NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN			1	666	+	all_hematologic(112;0.0378)		222			Cytoplasmic (Potential).		Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.666C>A	CCDS30897.1																																																																																				0.478	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1			20	71	1	0	7.45023e-12	0.010504	1.01333e-11	20	71				
SPTA1	6708	broad.mit.edu	37	1	158636110	158636110	+	Missense_Mutation	SNP	C	C	T	rs145972324	byFrequency	TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:158636110C>T	ENST00000368147.4	-	16	2396	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	739					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R739H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACAAACCTGACGAGCAGCCAC	0.463													C|||	3	0.000599042	0.0023	0.0	5008	,	,		13070	0.0		0.0	False		,,,				2504	0.0						uc001fst.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2215-2217)CGT>CAT		spectrin, alpha, erythrocytic 1		C	HIS/ARG	2,3900		0,2,1949	30.0	34.0	33.0		2216	-0.0	0.2	1	dbSNP_134	33	0,8302		0,0,4151	yes	missense	SPTA1	NM_003126.2	29	0,2,6100	TT,TC,CC		0.0,0.0513,0.0164	benign	739/2420	158636110	2,12202	1951	4151	6102	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158636110C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2216G>A	1.37:g.158636110C>T	ENSP00000357129:p.Arg739His						p.R739H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			16	2415	-	all_hematologic(112;0.0378)		739			Spectrin 8.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2216G>A	CCDS41423.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.030	-1.342308	0.01277	5.13E-4	0.0	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.32515	1.45;1.45	4.55	-0.0412	0.13869	.	0.258718	0.20587	N	0.089425	T	0.02688	0.0081	N	0.03268	-0.37	0.36038	D	0.839898	B	0.09022	0.002	B	0.08055	0.003	T	0.44922	-0.9296	10	0.02654	T	1	.	7.2822	0.26318	0.0:0.3569:0.0:0.6431	.	739	P02549	SPTA1_HUMAN	H	739	ENSP00000357130:R739H;ENSP00000357129:R739H	ENSP00000357129:R739H	R	-	2	0	SPTA1	156902734	1.000000	0.71417	0.224000	0.23877	0.120000	0.20174	1.976000	0.40579	0.101000	0.17610	0.650000	0.86243	CGT		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		4	19	0	0	0	0.000602	0	4	19				
MROH9	80133	broad.mit.edu	37	1	170952642	170952642	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:170952642G>T	ENST00000367758.3	+	9	795	c.696G>T	c.(694-696)aaG>aaT	p.K232N	MROH9_ENST00000367759.4_Missense_Mutation_p.K232N	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	232								p.K232N(2)									TTCTACCCAAGGAGTTTCAAC	0.363																																							uc001ghg.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(694-696)AAG>AAT		hypothetical protein LOC80133 isoform 2							84.0	76.0	78.0					1																	170952642		1808	4079	5887	SO:0001583	missense	80133						binding	g.chr1:170952642G>T	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.696G>T	1.37:g.170952642G>T	ENSP00000356732:p.Lys232Asn					C1orf129_uc009wvy.2_Missense_Mutation_p.K39N|C1orf129_uc010plz.1_Missense_Mutation_p.K232N	p.K232N	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			9	826	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		232					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.696G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029562	0.35797	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.16073	3.97;2.37	4.12	-0.0857	0.13684	.	1.014270	0.07901	N	0.972699	T	0.06554	0.0168	L	0.60455	1.87	0.09310	N	1	P;P	0.47910	0.902;0.902	B;B	0.40741	0.339;0.339	T	0.28396	-1.0045	10	0.54805	T	0.06	-0.6146	4.6464	0.12574	0.2163:0.4082:0.3755:0.0	.	232;232	F5GWX6;Q5TGP6	.;CA129_HUMAN	N	232	ENSP00000356733:K232N;ENSP00000356732:K232N	ENSP00000356732:K232N	K	+	3	2	C1orf129	169219266	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.150000	0.10189	0.106000	0.17784	0.655000	0.94253	AAG		0.363	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		11	55	1	0	0.000151284	0.001855	0.000169295	11	55				
ABL2	27	broad.mit.edu	37	1	179087822	179087822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:179087822C>A	ENST00000502732.1	-	7	1326	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	ABL2_ENST00000511413.1_Nonsense_Mutation_p.E375*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.E339*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.E354*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.E354*|ABL2_ENST00000392043.3_Nonsense_Mutation_p.E354*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.E360*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.E360*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.E339*	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	375	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.E339*(1)		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)	CGGTTGCATTCTCGGAGGTAA	0.428			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		1	Substitution - Nonsense(1)		large_intestine(1)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1123-1125)GAA>TAA		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						182.0	157.0	165.0					1																	179087822		2203	4300	6503	SO:0001587	stop_gained	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.chr1:179087822C>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.1123G>T	1.37:g.179087822C>A	ENSP00000427562:p.Glu375*					ABL2_uc010pnf.1_Nonsense_Mutation_p.E375*|ABL2_uc010png.1_Nonsense_Mutation_p.E354*|ABL2_uc010pnh.1_Nonsense_Mutation_p.E354*|ABL2_uc009wxe.2_Nonsense_Mutation_p.E354*|ABL2_uc001gmg.3_Nonsense_Mutation_p.E360*|ABL2_uc001gmi.3_Nonsense_Mutation_p.E360*|ABL2_uc001gmh.3_Nonsense_Mutation_p.E339*|ABL2_uc010pne.1_Nonsense_Mutation_p.E339*|ABL2_uc009wxf.1_Nonsense_Mutation_p.E360*|ABL2_uc001gmk.2_Nonsense_Mutation_p.E339*	p.E375*	NM_007314	NP_009298	P42684	ABL2_HUMAN			7	1410	-			375			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.1123G>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	37	6.009085	0.97195	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413;ENST00000392043	.	.	.	4.92	4.92	0.64577	.	0.000000	0.53938	D	0.000059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.4674	0.87637	0.0:1.0:0.0:0.0	.	.	.	.	X	375;339;360;360;339;354;354;375;354	.	ENSP00000339209:E360X	E	-	1	0	ABL2	177354445	1.000000	0.71417	0.956000	0.39512	0.994000	0.84299	7.776000	0.85560	2.434000	0.82447	0.655000	0.94253	GAA		0.428	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		65	137	1	0	3.77215e-22	0.00361	5.44581e-22	65	137				
SOAT1	6646	broad.mit.edu	37	1	179318019	179318019	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:179318019C>T	ENST00000367619.3	+	13	1399	c.1256C>T	c.(1255-1257)aCc>aTc	p.T419I	SOAT1_ENST00000539888.1_Missense_Mutation_p.T354I|SOAT1_ENST00000535686.1_Missense_Mutation_p.T155I|SOAT1_ENST00000540564.1_Missense_Mutation_p.T361I	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	419					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)	p.T419I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TATTATAGAACCTGGAATGTG	0.398																																							uc001gml.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1255-1257)ACC>ATC		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						187.0	173.0	177.0					1																	179318019		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179318019C>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1256C>T	1.37:g.179318019C>T	ENSP00000356591:p.Thr419Ile					SOAT1_uc010pni.1_Missense_Mutation_p.T354I|SOAT1_uc001gmm.2_Missense_Mutation_p.T361I|SOAT1_uc010pnj.1_Missense_Mutation_p.T155I|SOAT1_uc010pnk.1_Missense_Mutation_p.T354I	p.T419I	NM_003101	NP_003092	P35610	SOAT1_HUMAN			13	1319	+			419					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1256C>T	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055177	0.75960	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.98	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.84334	0.5449	M	0.84219	2.685	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86599	0.1865	10	0.87932	D	0	-12.9846	12.9194	0.58224	0.0:0.9219:0.0:0.0781	.	361;419	A8K3P4;P35610	.;SOAT1_HUMAN	I	354;361;155;419	ENSP00000441356:T354I;ENSP00000445315:T361I;ENSP00000442503:T155I;ENSP00000356591:T419I	ENSP00000356591:T419I	T	+	2	0	SOAT1	177584642	1.000000	0.71417	0.999000	0.59377	0.643000	0.38383	7.669000	0.83911	1.553000	0.49476	-0.218000	0.12543	ACC		0.398	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	NM_003101		11	184	0	0	0	0.010729	0	11	184				
ELK4	2005	broad.mit.edu	37	1	205589516	205589516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:205589516C>A	ENST00000357992.4	-	3	997	c.658G>T	c.(658-660)Gaa>Taa	p.E220*	ELK4_ENST00000289703.4_Nonsense_Mutation_p.E220*|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	220					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.E220*(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGGATAGTTTCTTCTGAAGAT	0.473			T	SLC45A3	prostate																																		uc001hcy.1		NA		Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate		2	Substitution - Nonsense(2)		lung(2)		0						c.(658-660)GAA>TAA		ELK4 protein isoform a							86.0	90.0	88.0					1																	205589516		2203	4300	6503	SO:0001587	stop_gained	2005					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr1:205589516C>A	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.658G>T	1.37:g.205589516C>A	ENSP00000350681:p.Glu220*					ELK4_uc001hcz.2_Nonsense_Mutation_p.E220*	p.E220*	NM_001973	NP_001964	P28324	ELK4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1908	-	Breast(84;0.07)		220					P28323|Q6GSJ2	Nonsense_Mutation	SNP	ENST00000357992.4	37	c.658G>T	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	C	38	7.027258	0.98013	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	.	.	.	5.81	4.89	0.63831	.	0.368540	0.30791	N	0.008868	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	15.7382	0.77863	0.0:0.8631:0.1369:0.0	.	.	.	.	X	310;220;220	.	ENSP00000289703:E220X	E	-	1	0	ELK4	203856139	0.996000	0.38824	1.000000	0.80357	0.988000	0.76386	3.118000	0.50414	1.444000	0.47605	0.655000	0.94253	GAA		0.473	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		19	76	1	0	7.07596e-05	0.006122	8.00302e-05	19	76				
ELK4	2005	broad.mit.edu	37	1	205589655	205589655	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:205589655C>T	ENST00000357992.4	-	3	858	c.519G>A	c.(517-519)gaG>gaA	p.E173E	ELK4_ENST00000289703.4_Silent_p.E173E|ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	173					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.E173E(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTGCCAGTTTCTCGGCTGGAT	0.423			T	SLC45A3	prostate																																		uc001hcy.1		NA		Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate		2	Substitution - coding silent(2)		lung(2)		0						c.(517-519)GAG>GAA		ELK4 protein isoform a							69.0	70.0	69.0					1																	205589655		2203	4300	6503	SO:0001819	synonymous_variant	2005					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr1:205589655C>T	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.519G>A	1.37:g.205589655C>T						ELK4_uc001hcz.2_Silent_p.E173E	p.E173E	NM_001973	NP_001964	P28324	ELK4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1769	-	Breast(84;0.07)		173					P28323|Q6GSJ2	Silent	SNP	ENST00000357992.4	37	c.519G>A	CCDS1456.1																																																																																				0.423	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		14	59	0	0	0	0.00245	0	14	59				
ELK4	2005	broad.mit.edu	37	1	205589806	205589806	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:205589806C>G	ENST00000357992.4	-	3	707	c.368G>C	c.(367-369)gGa>gCa	p.G123A	ELK4_ENST00000289703.4_Missense_Mutation_p.G123A|ELK4_ENST00000468523.1_5'UTR	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	123					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.G123A(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			ATCTTTCCCTCCATTCTCCAC	0.438			T	SLC45A3	prostate																																		uc001hcy.1		NA		Dom	yes		1	1q32	2005	T	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""			E	SLC45A3		prostate		2	Substitution - Missense(2)		lung(2)		0						c.(367-369)GGA>GCA		ELK4 protein isoform a							146.0	119.0	128.0					1																	205589806		2203	4300	6503	SO:0001583	missense	2005					cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr1:205589806C>G	M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.368G>C	1.37:g.205589806C>G	ENSP00000350681:p.Gly123Ala					ELK4_uc001hcz.2_Missense_Mutation_p.G123A	p.G123A	NM_001973	NP_001964	P28324	ELK4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0908)		3	1618	-	Breast(84;0.07)		123					P28323|Q6GSJ2	Missense_Mutation	SNP	ENST00000357992.4	37	c.368G>C	CCDS1456.1	.	.	.	.	.	.	.	.	.	.	C	2.880	-0.232125	0.05983	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.54479	0.57;0.57	5.56	4.64	0.57946	.	0.528563	0.23072	N	0.052244	T	0.41558	0.1164	L	0.41236	1.265	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.17433	0.018;0.002	T	0.26538	-1.0100	10	0.32370	T	0.25	.	8.8347	0.35104	0.0:0.7691:0.1521:0.0788	.	123;123	P28324-2;P28324	.;ELK4_HUMAN	A	213;123;123	ENSP00000350681:G123A;ENSP00000289703:G123A	ENSP00000289703:G123A	G	-	2	0	ELK4	203856429	0.001000	0.12720	0.445000	0.26908	0.921000	0.55340	0.623000	0.24447	1.346000	0.45694	0.650000	0.86243	GGA		0.438	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090615.1	NM_021795		18	57	0	0	0	0.010504	0	18	57				
USH2A	7399	broad.mit.edu	37	1	216595491	216595491	+	Missense_Mutation	SNP	C	C	G	rs369806765		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:216595491C>G	ENST00000307340.3	-	2	574	c.188G>C	c.(187-189)cGa>cCa	p.R63P	USH2A_ENST00000366943.2_Missense_Mutation_p.R63P|USH2A_ENST00000366942.3_Missense_Mutation_p.R63P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	63					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)	p.R63P(1)		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)		AAAAGTGCTTCGGTCTGGGAG	0.493										HNSCC(13;0.011)																													uc001hku.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(187-189)CGA>CCA		usherin isoform B							95.0	95.0	95.0					1																	216595491		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216595491C>G	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.188G>C	1.37:g.216595491C>G	ENSP00000305941:p.Arg63Pro	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.R63P	p.R63P	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	2	575	-			63			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.188G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	6.594	0.477977	0.12521	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20200	2.54;2.54;2.09	5.27	-0.892	0.10570	.	0.464806	0.15680	N	0.249964	T	0.15089	0.0364	L	0.43152	1.355	0.09310	N	1	B;B	0.18610	0.029;0.001	B;B	0.19946	0.027;0.002	T	0.19063	-1.0317	10	0.49607	T	0.09	.	5.7945	0.18379	0.0:0.5251:0.191:0.2839	.	63;63	O75445-2;O75445	.;USH2A_HUMAN	P	63	ENSP00000305941:R63P;ENSP00000355910:R63P;ENSP00000355909:R63P	ENSP00000305941:R63P	R	-	2	0	USH2A	214662114	0.015000	0.18098	0.000000	0.03702	0.201000	0.24016	1.658000	0.37376	-0.184000	0.10567	0.591000	0.81541	CGA		0.493	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		19	37	0	0	0	0.007413	0	19	37				
DUSP10	11221	broad.mit.edu	37	1	221879756	221879756	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:221879756G>A	ENST00000366899.3	-	3	1102	c.864C>T	c.(862-864)ctC>ctT	p.L288L	DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	288					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.L288L(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTTGGAGCTGGAGGGAGTTGT	0.567																																							uc001hmy.1		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)	2						c.(862-864)CTC>CTT		dual specificity phosphatase 10 isoform a							48.0	58.0	55.0					1																	221879756		2202	4300	6502	SO:0001819	synonymous_variant	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879756G>A	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.864C>T	1.37:g.221879756G>A						DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	p.L288L	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1046	-			288					D3DTB4|Q6GSI4|Q9H9Z5	Silent	SNP	ENST00000366899.3	37	c.864C>T	CCDS1528.1																																																																																				0.567	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	NM_007207		5	91	0	0	0	0.000602	0	5	91				
URB2	9816	broad.mit.edu	37	1	229773573	229773573	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:229773573C>T	ENST00000258243.2	+	4	3349	c.3213C>T	c.(3211-3213)ctC>ctT	p.L1071L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1071						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L1071L(1)		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						GACCTTTCCTCAAAGAGCAGA	0.562																																							uc001hts.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(3211-3213)CTC>CTT		URB2 ribosome biogenesis 2 homolog							43.0	46.0	45.0					1																	229773573		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229773573C>T	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.3213C>T	1.37:g.229773573C>T						URB2_uc009xfd.1_Silent_p.L1071L	p.L1071L	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	3349	+			1071					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.3213C>T	CCDS31052.1																																																																																				0.562	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		22	60	0	0	0	0.002299	0	22	60				
DISC1	27185	broad.mit.edu	37	1	231830502	231830502	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:231830502G>T	ENST00000602281.1	+	2	1051	c.998G>T	c.(997-999)tGg>tTg	p.W333L	DISC1_ENST00000535983.1_Missense_Mutation_p.W333L|DISC1_ENST00000539444.1_Missense_Mutation_p.W333L|DISC1_ENST00000439617.2_Missense_Mutation_p.W333L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.W333L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.W333L|DISC1_ENST00000366636.4_Missense_Mutation_p.W333L|DISC1_ENST00000317586.4_Missense_Mutation_p.W333L|TSNAX-DISC1_ENST00000602962.1_3'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	333	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.W333L(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTCAGGAAATGGGAGCCAGTG	0.607																																							uc001huz.2		NA																	4	Substitution - Missense(4)		lung(4)	skin(1)	1						c.(997-999)TGG>TTG		disrupted in schizophrenia 1 isoform L							29.0	30.0	29.0					1																	231830502		2202	4300	6502	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830502G>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.998G>T	1.37:g.231830502G>T	ENSP00000473425:p.Trp333Leu					TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.W288L|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.W288L|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.W322L|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.W288L|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.W288L|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.W322L|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.W322L|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.W333L|DISC1_uc010pwp.1_Missense_Mutation_p.W333L|DISC1_uc010pwq.1_Missense_Mutation_p.W333L|DISC1_uc010pwr.1_Missense_Mutation_p.W333L|DISC1_uc010pws.1_Missense_Mutation_p.W333L|DISC1_uc010pwt.1_Missense_Mutation_p.W333L|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.W333L|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.W333L|DISC1_uc010pxb.1_Missense_Mutation_p.W333L|DISC1_uc010pxc.1_Missense_Mutation_p.W333L|DISC1_uc010pxd.1_Missense_Mutation_p.M1I|DISC1_uc010pxe.1_Missense_Mutation_p.W333L|DISC1_uc009xfr.2_Missense_Mutation_p.W288L|DISC1_uc010pxf.1_Missense_Mutation_p.W333L|DISC1_uc010pxg.1_Missense_Mutation_p.W333L|DISC1_uc010pxh.1_Missense_Mutation_p.W333L|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_Missense_Mutation_p.M1I|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.W333L|DISC1_uc010pxn.1_Missense_Mutation_p.M1I|DISC1_uc001hva.2_Missense_Mutation_p.W333L|DISC1_uc010pwm.1_Missense_Mutation_p.W333L|DISC1_uc001hux.1_Missense_Mutation_p.W333L|DISC1_uc001hvc.3_Missense_Mutation_p.W333L|DISC1_uc010pwn.1_Missense_Mutation_p.W333L	p.W333L	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			2	1051	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	333			Interaction with TRAF3IP1.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.998G>T	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	9.997	1.232294	0.22626	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	4.94	3.95	0.45737	.	0.292269	0.38381	N	0.001708	T	0.25306	0.0615	L	0.44542	1.39	0.30551	N	0.765435	B;P;P;P;P;P;P;P;P;P;P;D;D;P;B;B;P;B;B;P;P	0.56287	0.341;0.655;0.702;0.952;0.655;0.702;0.655;0.655;0.458;0.655;0.782;0.975;0.975;0.655;0.452;0.4;0.903;0.452;0.4;0.458;0.782	B;B;B;P;B;B;B;B;B;B;B;P;P;B;B;B;B;B;B;B;B	0.55545	0.085;0.194;0.341;0.492;0.121;0.341;0.194;0.194;0.121;0.194;0.14;0.778;0.719;0.194;0.228;0.121;0.31;0.228;0.121;0.194;0.14	T	0.19063	-1.0317	10	0.59425	D	0.04	-1.657	3.4611	0.07533	0.3583:0.0:0.6417:0.0	.	333;333;333;333;333;333;333;333;333;333;333;333;333;333;333;333;333;333;333;333;333	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	L	333;333;333;333;333;333;333;333;333;333;333;333;184	ENSP00000403888:W333L;ENSP00000320784:W333L;ENSP00000355596:W333L;ENSP00000443996:W333L;ENSP00000440909:W333L;ENSP00000355593:W333L;ENSP00000440953:W333L;ENSP00000295051:W333L;ENSP00000441193:W333L	ENSP00000295051:W333L	W	+	2	0	DISC1	229897125	0.607000	0.26958	0.120000	0.21714	0.055000	0.15305	1.921000	0.40035	1.200000	0.43188	0.561000	0.74099	TGG		0.607	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		13	28	1	0	1.5842e-08	0.001855	2.04929e-08	13	28				
NID1	4811	broad.mit.edu	37	1	236212121	236212121	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:236212121G>A	ENST00000264187.6	-	2	476	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	NID1_ENST00000366595.3_Nonsense_Mutation_p.Q132*	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	132	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)	p.Q132*(1)		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)	GCTGCTCGCTGAGTGATGGAG	0.577																																							uc001hxo.2		NA																	1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(394-396)CAG>TAG		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						57.0	62.0	60.0					1																	236212121		2203	4300	6503	SO:0001587	stop_gained	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236212121G>A	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.394C>T	1.37:g.236212121G>A	ENSP00000264187:p.Gln132*					NID1_uc009xgd.2_Nonsense_Mutation_p.Q132*	p.Q132*	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		2	496	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	132			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Nonsense_Mutation	SNP	ENST00000264187.6	37	c.394C>T	CCDS1608.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373381	0.82573	.	.	ENSG00000116962	ENST00000264187;ENST00000366595	.	.	.	4.81	3.86	0.44501	.	0.877994	0.10444	N	0.673937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	14.7691	0.69662	0.0:0.1453:0.8547:0.0	.	.	.	.	X	132	.	ENSP00000264187:Q132X	Q	-	1	0	NID1	234278744	0.953000	0.32496	0.145000	0.22337	0.471000	0.32888	3.410000	0.52664	1.180000	0.42898	0.655000	0.94253	CAG		0.577	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		4	38	0	0	0	0.009096	0	4	38				
RYR2	6262	broad.mit.edu	37	1	237886466	237886466	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:237886466C>T	ENST00000366574.2	+	74	10910	c.10593C>T	c.(10591-10593)taC>taT	p.Y3531Y	RYR2_ENST00000542537.1_Silent_p.Y3515Y|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.Y3529Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3531					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)	p.Y3529Y(1)		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)			TGGCTCTTTACAAAGACTTAC	0.388																																							uc001hyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10591-10593)TAC>TAT		cardiac muscle ryanodine receptor							200.0	185.0	190.0					1																	237886466		1863	4104	5967	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.chr1:237886466C>T	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.10593C>T	1.37:g.237886466C>T						RYR2_uc010pxz.1_Silent_p.Y486Y	p.Y3531Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10713	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3531					Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.10593C>T	CCDS55691.1																																																																																				0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		17	171	0	0	0	0.006122	0	17	171				
HNRNPU	3192	broad.mit.edu	37	1	245023749	245023749	+	Nonsense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:245023749G>C	ENST00000283179.9	-	4	1068	c.905C>G	c.(904-906)tCa>tGa	p.S302*	HNRNPU_ENST00000444376.2_Nonsense_Mutation_p.S283*			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	302	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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)	p.S283*(1)|p.S302*(1)		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)			ACGATCTCTTGATATTTTAAA	0.358																																					NSCLC(33;911 1010 3329 23631 49995)	NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1		NA																	2	Substitution - Nonsense(2)		lung(2)		0						c.(904-906)TCA>TGA		heterogeneous nuclear ribonucleoprotein U							96.0	89.0	92.0					1																	245023749		2203	4300	6503	SO:0001587	stop_gained	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.chr1:245023749G>C	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.905C>G	1.37:g.245023749G>C	ENSP00000283179:p.Ser302*					HNRNPU_uc001iaw.1_5'Flank|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Nonsense_Mutation_p.S26*|HNRNPU_uc001iba.1_Nonsense_Mutation_p.S283*|HNRNPU_uc001ibb.1_Translation_Start_Site	p.S302*	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		4	1123	-	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)		302			B30.2/SPRY.		O75507|Q8N174|Q96HY9|Q9BQ09	Nonsense_Mutation	SNP	ENST00000283179.9	37	c.905C>G	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	G	40	8.468980	0.98825	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948;ENST00000440865	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.7438	20.1533	0.98095	0.0:0.0:1.0:0.0	.	.	.	.	X	283;302;227;79	.	ENSP00000283179:S302X	S	-	2	0	HNRNPU	243090372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.758000	0.94735	0.655000	0.94253	TCA		0.358	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844		4	49	0	0	0	0.000602	0	4	49				
CNST	163882	broad.mit.edu	37	1	246823523	246823523	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:246823523T>C	ENST00000366513.4	+	10	2128	c.1859T>C	c.(1858-1860)gTc>gCc	p.V620A		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	620					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GAAGGATTGGTCTCCATATTA	0.378																																							uc001ibp.2		NA																	0					0						c.(1858-1860)GTC>GCC		hypothetical protein LOC163882 isoform 1							134.0	136.0	136.0					1																	246823523		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246823523T>C	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.1859T>C	1.37:g.246823523T>C	ENSP00000355470:p.Val620Ala						p.V620A	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			10	2237	+			620					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.1859T>C	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.927163	0.73327	.	.	ENSG00000162852	ENST00000366513	T	0.32515	1.45	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.62959	-0.6743	10	0.87932	D	0	-10.9349	15.9669	0.79979	0.0:0.0:0.0:1.0	.	620	Q6PJW8	CNST_HUMAN	A	620	ENSP00000355470:V620A	ENSP00000355470:V620A	V	+	2	0	CNST	244890146	1.000000	0.71417	1.000000	0.80357	0.546000	0.35178	5.529000	0.67135	2.236000	0.73375	0.533000	0.62120	GTC		0.378	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		9	194	0	0	0	0.004482	0	9	194				
OR2L13	284521	broad.mit.edu	37	1	248262905	248262905	+	Silent	SNP	C	C	A	rs139493421		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:248262905C>A	ENST00000358120.2	+	2	373	c.228C>A	c.(226-228)acC>acA	p.T76T	OR2L13_ENST00000366478.2_Silent_p.T76T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	76						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(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			TCTCCACCACCGTCCCCAAGA	0.537																																							uc001ids.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(226-228)ACC>ACA		olfactory receptor, family 2, subfamily L,							231.0	206.0	214.0					1																	248262905		2203	4300	6503	SO:0001819	synonymous_variant	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248262905C>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.228C>A	1.37:g.248262905C>A							p.T76T	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	565	+	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)		76			Helical; Name=2; (Potential).		Q5VUR5	Silent	SNP	ENST00000358120.2	37	c.228C>A	CCDS1637.1																																																																																				0.537	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		80	133	1	0	1.45872e-26	0.00361	2.12771e-26	80	133				
OR2M7	391196	broad.mit.edu	37	1	248487558	248487558	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:248487558T>C	ENST00000317965.2	-	1	341	c.313A>G	c.(313-315)Ata>Gta	p.I105V		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I105V(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	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)			AGCAATGATATATAGAAGAAA	0.463																																							uc010pzk.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(313-315)ATA>GTA		olfactory receptor, family 2, subfamily M,							188.0	197.0	194.0					1																	248487558		2203	4300	6503	SO:0001583	missense	391196				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248487558T>C	BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186		"""GPCR / Class A : Olfactory receptors"""	19594	protein-coding gene	gene with protein product							Standard	NM_001004691		Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.313A>G	1.37:g.248487558T>C	ENSP00000324557:p.Ile105Val						p.I105V	NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	313	-	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)		105			Helical; Name=3; (Potential).		B2RNL0|Q6IEX6	Missense_Mutation	SNP	ENST00000317965.2	37	c.313A>G	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.373734	0.00207	.	.	ENSG00000177186	ENST00000317965	T	0.00578	6.44	1.54	-3.09	0.05331	GPCR, rhodopsin-like superfamily (1);	3.056920	0.01661	N	0.025101	T	0.00356	0.0011	N	0.01742	-0.745	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.24483	T	0.36	.	7.7701	0.29004	0.0:0.6033:0.2:0.1967	.	105	Q8NG81	OR2M7_HUMAN	V	105	ENSP00000324557:I105V	ENSP00000324557:I105V	I	-	1	0	OR2M7	246554181	0.000000	0.05858	0.002000	0.10522	0.041000	0.13682	-5.143000	0.00147	-1.375000	0.02129	-1.386000	0.01163	ATA		0.463	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097357.1	NM_001004691		32	262	0	0	0	0.012213	0	32	262				
OR2T27	403239	broad.mit.edu	37	1	248813843	248813843	+	Missense_Mutation	SNP	G	G	T	rs559591642	byFrequency	TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:248813843G>T	ENST00000344889.3	-	1	342	c.343C>A	c.(343-345)Cta>Ata	p.L115I		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115I(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAGTCCTAGGAGGAAGAAC	0.547																																							uc010pzo.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(343-345)CTA>ATA		olfactory receptor, family 2, subfamily T,							87.0	38.0	55.0					1																	248813843		2192	4171	6363	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813843G>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.343C>A	1.37:g.248813843G>T	ENSP00000342008:p.Leu115Ile						p.L115I	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	343	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	115			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000344889.3	37	c.343C>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	12.88	2.070353	0.36566	.	.	ENSG00000187701	ENST00000344889	T	0.06371	3.31	3.3	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30791	N	0.008878	T	0.24198	0.0586	M	0.92026	3.265	0.09310	N	1	D	0.63880	0.993	D	0.64144	0.922	T	0.04708	-1.0932	10	0.87932	D	0	.	7.523	0.27639	0.1005:0.1671:0.7324:0.0	.	115	Q8NH04	O2T27_HUMAN	I	115	ENSP00000342008:L115I	ENSP00000342008:L115I	L	-	1	2	OR2T27	246880466	0.595000	0.26857	0.327000	0.25402	0.577000	0.36160	0.978000	0.29488	0.221000	0.20879	0.194000	0.17425	CTA		0.547	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824		16	25	1	0	1.96292e-10	0.010504	2.61929e-10	16	25				
PGBD2	267002	broad.mit.edu	37	1	249212112	249212112	+	Silent	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:249212112G>C	ENST00000329291.5	+	3	1476	c.1329G>C	c.(1327-1329)acG>acC	p.T443T	PGBD2_ENST00000355360.4_Silent_p.T192T|PGBD2_ENST00000539153.1_Silent_p.T440T	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	443								p.T443T(1)|p.T192T(1)		NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CAGCTAAAACGCGGACTCAGG	0.542																																							uc001ifh.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(1327-1329)ACG>ACC		hypothetical protein LOC267002 isoform a							92.0	75.0	80.0					1																	249212112		2203	4300	6503	SO:0001819	synonymous_variant	267002							g.chr1:249212112G>C	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1329G>C	1.37:g.249212112G>C						PGBD2_uc001ifg.2_Silent_p.T192T|PGBD2_uc009xhd.2_Silent_p.T440T	p.T443T	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1476	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	443					B3KVR8|Q6MZF8	Silent	SNP	ENST00000329291.5	37	c.1329G>C	CCDS31128.1																																																																																				0.542	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			13	18	0	0	0	0.001368	0	13	18				
DIP2C	22982	broad.mit.edu	37	10	323340	323340	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:323340C>G	ENST00000280886.6	-	37	4683	c.4596G>C	c.(4594-4596)gaG>gaC	p.E1532D	AL603831.1_ENST00000579524.1_RNA	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1532						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E1532D(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGCGCTGCTTCTCCCCACGGG	0.577																																							uc001ifp.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(4594-4596)GAG>GAC		DIP2 disco-interacting protein 2 homolog C							138.0	110.0	119.0					10																	323340		2203	4300	6503	SO:0001583	missense	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:323340C>G	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4596G>C	10.37:g.323340C>G	ENSP00000280886:p.Glu1532Asp						p.E1532D	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	37	4686	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	1532					B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	c.4596G>C	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870714	0.72065	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.10573	2.86	6.04	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.80183	2.485	0.80722	D	1	D	0.62365	0.991	D	0.66979	0.948	T	0.12372	-1.0550	10	0.66056	D	0.02	-45.1963	12.6896	0.56966	0.0:0.8663:0.0:0.1337	.	1532	Q9Y2E4	DIP2C_HUMAN	D	1532;457	ENSP00000280886:E1532D	ENSP00000280886:E1532D	E	-	3	2	DIP2C	313340	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	4.072000	0.57563	1.540000	0.49301	0.561000	0.74099	GAG		0.577	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		4	39	0	0	0	0.009096	0	4	39				
MRC1	4360	broad.mit.edu	37	10	17949583	17949583	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:17949583C>G	ENST00000331429.2	+	28	4050	c.3947C>G	c.(3946-3948)tCc>tGc	p.S1316C															p.S1316Y(1)|p.S1316C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGTCCGGTCTCCTTTGTCAAC	0.403																																						GBM(115;1153 1594 28187 28781 35884)	uc001ipk.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(3946-3948)TCC>TGC		mannose receptor C type 1 precursor							56.0	58.0	57.0					10																	17949583		2177	4258	6435	SO:0001583	missense	4360				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity	g.chr10:17949583C>G																												ENST00000331429.2:c.3947C>G	10.37:g.17949583C>G	ENSP00000332124:p.Ser1316Cys						p.S1316C	NM_002438	NP_002429	P22897	MRC1_HUMAN			28	4050	+			1316			Extracellular (Potential).|C-type lectin 8.			Missense_Mutation	SNP	ENST00000331429.2	37	c.3947C>G		.	.	.	.	.	.	.	.	.	.	.	12.05	1.821843	0.32237	.	.	ENSG00000183748	ENST00000331429	T	0.19532	2.14	4.04	4.04	0.47022	.	0.706038	0.11866	U	0.521918	T	0.43612	0.1255	.	.	.	0.30477	N	0.772696	D	0.89917	1.0	D	0.74023	0.982	T	0.53906	-0.8372	8	0.66056	D	0.02	-18.712	9.8365	0.40973	0.3676:0.6324:0.0:0.0	.	1316	B9EJA8	.	C	1316	ENSP00000332124:S1316C	ENSP00000332124:S1316C	S	+	2	0	AL928580.1	17989589	1.000000	0.71417	0.985000	0.45067	0.154000	0.21943	4.463000	0.60128	2.086000	0.62901	0.508000	0.49915	TCC		0.403	MRC1L1-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047054.1			18	89	0	0	0	0.00874	0	18	89				
KIAA1217	56243	broad.mit.edu	37	10	24722075	24722075	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:24722075C>T	ENST00000376454.3	+	4	735	c.705C>T	c.(703-705)taC>taT	p.Y235Y	KIAA1217_ENST00000430453.2_Silent_p.Y156Y|KIAA1217_ENST00000376462.1_Silent_p.Y155Y|KIAA1217_ENST00000458595.1_Silent_p.Y235Y|KIAA1217_ENST00000376452.3_Silent_p.Y235Y	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	235					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.Y235Y(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCGCCATTTACATCAAAGATG	0.393																																							uc001iru.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(703-705)TAC>TAT		sickle tail isoform 1							101.0	92.0	95.0					10																	24722075		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24722075C>T	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.705C>T	10.37:g.24722075C>T						KIAA1217_uc001irs.2_Silent_p.Y155Y|KIAA1217_uc001irt.3_Silent_p.Y235Y|KIAA1217_uc010qcy.1_Silent_p.Y235Y|KIAA1217_uc010qcz.1_Silent_p.Y235Y|KIAA1217_uc001irv.1_Silent_p.Y85Y|KIAA1217_uc010qda.1_RNA	p.Y235Y	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			4	1108	+			235					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.705C>T	CCDS31165.1																																																																																				0.393	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		10	89	0	0	0	0.006214	0	10	89				
ERCC6	2074	broad.mit.edu	37	10	50680512	50680512	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:50680512C>A	ENST00000355832.5	-	16	2912	c.2834G>T	c.(2833-2835)cGg>cTg	p.R945L	ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.R315L|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	945	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				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)	p.R945L(1)		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						TGCTCGCTCCCGGGCCTGCAA	0.517								Direct reversal of damage;Nucleotide excision repair (NER)																															uc001jhs.3		NA																	1	Substitution - Missense(1)		lung(1)	lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(2833-2835)CGG>CTG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							114.0	109.0	111.0					10																	50680512		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.chr10:50680512C>A	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.2834G>T	10.37:g.50680512C>A	ENSP00000348089:p.Arg945Leu					ERCC6_uc009xod.2_Missense_Mutation_p.R105L|ERCC6_uc010qgr.1_Missense_Mutation_p.R315L|ERCC6_uc001jhr.3_Missense_Mutation_p.R313L	p.R945L	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			16	2988	-			945			Helicase C-terminal.		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2834G>T	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	35	5.475970	0.96291	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	T;D	0.94497	-0.89;-3.44	5.56	5.56	0.83823	Helicase, C-terminal (3);	.	.	.	.	D	0.95937	0.8677	L	0.38953	1.18	0.80722	D	1	D;D	0.89917	1.0;0.99	D;D	0.87578	0.998;0.958	D	0.96323	0.9238	9	0.87932	D	0	-23.4395	19.8857	0.96911	0.0:1.0:0.0:0.0	.	945;322	Q03468;Q59FF6	ERCC6_HUMAN;.	L	945;322;315	ENSP00000348089:R945L;ENSP00000445134:R315L	ENSP00000348089:R945L	R	-	2	0	ERCC6	50350518	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.689000	0.84165	2.771000	0.95319	0.650000	0.86243	CGG		0.517	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		21	106	1	0	0.00152264	0.010504	0.00164305	21	106				
CCSER2	54462	broad.mit.edu	37	10	86131442	86131442	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:86131442T>C	ENST00000224756.8	+	2	819	c.634T>C	c.(634-636)Tct>Cct	p.S212P	CCSER2_ENST00000372088.2_Missense_Mutation_p.S212P|CCSER2_ENST00000359979.4_Missense_Mutation_p.S212P	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	212					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)		p.S212P(1)									CAGTAGTAAATCTATTAATTG	0.408																																							uc001kdh.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(634-636)TCT>CCT		granule cell antiserum positive 14							55.0	59.0	57.0					10																	86131442		2203	4300	6503	SO:0001583	missense	54462							g.chr10:86131442T>C		CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.634T>C	10.37:g.86131442T>C	ENSP00000224756:p.Ser212Pro					FAM190B_uc001kdg.1_Missense_Mutation_p.S212P|FAM190B_uc010qmd.1_Missense_Mutation_p.S212P	p.S212P	NM_018999	NP_061872	Q9H7U1	F190B_HUMAN			2	828	+			212					B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	ENST00000224756.8	37	c.634T>C	CCDS31235.1	.	.	.	.	.	.	.	.	.	.	T	0.360	-0.939850	0.02322	.	.	ENSG00000107771	ENST00000359979;ENST00000224756;ENST00000372088	T;T;T	0.50001	0.76;2.1;2.07	6.11	2.52	0.30459	.	0.139523	0.48767	N	0.000168	T	0.33818	0.0876	L	0.43923	1.385	0.22446	N	0.999092	B;B;B	0.12013	0.001;0.005;0.003	B;B;B	0.14578	0.001;0.011;0.002	T	0.23368	-1.0190	10	0.42905	T	0.14	-8.1207	4.0212	0.09667	0.1424:0.2273:0.0:0.6304	.	212;212;212	Q9H7U1-3;Q9H7U1;Q9H7U1-2	.;F190B_HUMAN;.	P	212	ENSP00000353068:S212P;ENSP00000224756:S212P;ENSP00000361160:S212P	ENSP00000224756:S212P	S	+	1	0	FAM190B	86121422	0.918000	0.31147	0.045000	0.18777	0.053000	0.15095	0.289000	0.18957	0.181000	0.19994	-1.253000	0.01494	TCT		0.408	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049132.2	NM_018999		6	70	0	0	0	0.001168	0	6	70				
AGAP11	119385	broad.mit.edu	37	10	88768270	88768270	+	RNA	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:88768270G>T	ENST00000444431.1	+	0	2870				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										AGCAGTCCATGGGCTGGTCCA	0.567																																							uc001kee.2		NA																	0					0						c.(259-261)ATG>ATT		ankyrin repeat and GTPase domain Arf GTPase							150.0	162.0	158.0					10																	88768270		2180	4294	6474			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768270G>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768270G>T						AGAP11_uc001kef.2_Intron	p.M87I	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN			12	1465	+			87					B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37	c.261G>T																																																																																					0.567	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		38	188	1	0	2.45108e-15	0.00874	3.46758e-15	38	188				
PTEN	5728	broad.mit.edu	37	10	89692883	89692883	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:89692883C>T	ENST00000371953.3	+	5	1724	c.367C>T	c.(367-369)Cac>Tac	p.H123Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		H -> R (in CWS1). {ECO:0000269|PubMed:10234502, ECO:0000269|PubMed:9259288}.|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.H123Y(5)|p.R55fs*1(5)|p.I122fs*2(3)|p.Y27fs*1(2)|p.H123D(1)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		60	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(6)|Unknown(5)|Deletion - In frame(1)	p.H123Y(4)|p.R55fs*1(4)|p.I122fs*2(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(14)|endometrium(6)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM020755	PTEN	M		c.(367-369)CAC>TAC		phosphatase and tensin homolog							140.0	129.0	132.0					10																	89692883		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692883C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.367C>T	10.37:g.89692883C>T	ENSP00000361021:p.His123Tyr	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.H123Y	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1398	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	123		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.367C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903384	0.92035	.	.	ENSG00000171862	ENST00000371953	D	0.99903	-7.67	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	H	0.97874	4.095	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.95932	0.8939	9	.	.	.	-8.7537	18.7776	0.91918	0.0:1.0:0.0:0.0	.	123	P60484	PTEN_HUMAN	Y	123	ENSP00000361021:H123Y	.	H	+	1	0	PTEN	89682863	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	CAC		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		11	104	0	0	0	0.008291	0	11	104				
EXOC6	54536	broad.mit.edu	37	10	94818035	94818035	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:94818035C>T	ENST00000260762.6	+	22	2352	c.2338C>T	c.(2338-2340)Cga>Tga	p.R780*	EXOC6_ENST00000371552.4_Nonsense_Mutation_p.R775*|EXOC6_ENST00000443748.2_Nonsense_Mutation_p.R677*|CYP26C1_ENST00000285949.5_5'Flank|EXOC6_ENST00000371547.4_Nonsense_Mutation_p.R796*|RP11-348J12.2_ENST00000444965.1_RNA	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	780					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)		p.R780*(2)|p.R775*(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GAAGAATGATCGAGACAAACA	0.383																																							uc001kig.2		NA																	4	Substitution - Nonsense(4)		large_intestine(2)|lung(2)	skin(1)	1						c.(2338-2340)CGA>TGA		SEC15-like 1 isoform a							129.0	120.0	123.0					10																	94818035		2203	4300	6503	SO:0001587	stop_gained	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94818035C>T	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.2338C>T	10.37:g.94818035C>T	ENSP00000260762:p.Arg780*					EXOC6_uc010qnr.1_Nonsense_Mutation_p.R796*|EXOC6_uc001kie.2_Nonsense_Mutation_p.R775*|EXOC6_uc009xub.2_Nonsense_Mutation_p.R779*|EXOC6_uc009xuc.2_Nonsense_Mutation_p.R677*|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Nonsense_Mutation_p.R354*|CYP26C1_uc010qns.1_5'Flank|CYP26C1_uc009xud.2_5'Flank	p.R780*	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN			22	2404	+		Colorectal(252;0.123)	780					E9PHI3|Q5VXH8|Q9NZ24	Nonsense_Mutation	SNP	ENST00000260762.6	37	c.2338C>T	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	C	38	6.921059	0.97936	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.1391	15.1407	0.72609	0.1412:0.8587:0.0:0.0	.	.	.	.	X	796;775;677;780	.	ENSP00000260762:R780X	R	+	1	2	EXOC6	94808025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.190000	0.50973	2.825000	0.97269	0.655000	0.94253	CGA		0.383	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		17	60	0	0	0	0.004007	0	17	60				
LZTS2	84445	broad.mit.edu	37	10	102763815	102763815	+	Silent	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:102763815G>T	ENST00000370220.1	+	2	4023	c.960G>T	c.(958-960)tcG>tcT	p.S320S	LZTS2_ENST00000370223.3_Silent_p.S320S					leucine zipper, putative tumor suppressor 2									p.S320S(1)|p.S183S(1)		breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CACCTCCTTCGGATGAGGCCC	0.657																																					Esophageal Squamous(8;38 437 13604 19902 37640)	Esophageal Squamous(8;38 437 13604 19902 37640)	uc001ksj.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)|breast(1)	4						c.(958-960)TCG>TCT		leucine zipper, putative tumor suppressor 2							38.0	42.0	41.0					10																	102763815		2202	4297	6499	SO:0001819	synonymous_variant	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763815G>T	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.960G>T	10.37:g.102763815G>T						LZTS2_uc010qpw.1_Silent_p.S320S|LZTS2_uc001ksk.2_Silent_p.S320S|LZTS2_uc001ksl.2_Silent_p.S320S|LZTS2_uc001ksm.2_RNA	p.S320S	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	3	1029	+			320			Required for centrosomal localization (By similarity).			Silent	SNP	ENST00000370220.1	37	c.960G>T	CCDS7507.1																																																																																				0.657	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		12	51	1	0	4.3838e-07	0.001855	5.42207e-07	12	51				
SORCS3	22986	broad.mit.edu	37	10	106976816	106976816	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:106976816G>T	ENST00000369701.3	+	19	2897	c.2670G>T	c.(2668-2670)caG>caT	p.Q890H	SORCS3_ENST00000369699.4_Missense_Mutation_p.Q176H	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	890	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.Q890H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGATCTTCCAGGTGACAGCCT	0.527																																					NSCLC(116;1497 1690 7108 13108 14106)	NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2668-2670)CAG>CAT		VPS10 domain receptor protein SORCS 3 precursor							187.0	146.0	160.0					10																	106976816		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106976816G>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2670G>T	10.37:g.106976816G>T	ENSP00000358715:p.Gln890His					SORCS3_uc010qqz.1_RNA	p.Q890H	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	19	2897	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	890			PKD.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2670G>T	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475697	0.63737	.	.	ENSG00000156395	ENST00000369701;ENST00000369699	T;T	0.59638	0.25;0.25	5.87	4.97	0.65823	PKD domain (4);	0.064528	0.64402	D	0.000004	T	0.65112	0.2660	L	0.40543	1.245	0.46954	D	0.999265	D	0.69078	0.997	D	0.68943	0.961	T	0.63580	-0.6605	9	.	.	.	.	12.2433	0.54555	0.1366:0.0:0.8634:0.0	.	890	Q9UPU3	SORC3_HUMAN	H	890;176	ENSP00000358715:Q890H;ENSP00000358713:Q176H	.	Q	+	3	2	SORCS3	106966806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.363000	0.34159	1.621000	0.50320	0.655000	0.94253	CAG		0.527	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		9	55	1	0	1.76689e-08	0.006214	2.27172e-08	9	55				
FAM45A	404636	broad.mit.edu	37	10	120867611	120867611	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr10:120867611C>G	ENST00000361432.2	+	2	213	c.187C>G	c.(187-189)Cag>Gag	p.Q63E	FAM45A_ENST00000544016.1_5'UTR|FAM45A_ENST00000535029.1_Missense_Mutation_p.Q63E	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	63								p.Q63E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		TGTCTTTGGTCAGTACAGAAG	0.388																																							uc001ldw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(187-189)CAG>GAG		hypothetical protein LOC404636							148.0	144.0	145.0					10																	120867611		2203	4300	6503	SO:0001583	missense	404636							g.chr10:120867611C>G	AF168713	CCDS7609.1	10q25	2008-09-04			ENSG00000119979	ENSG00000119979			31793	protein-coding gene	gene with protein product							Standard	NM_207009		Approved			Q8TCE6	OTTHUMG00000019143	ENST00000361432.2:c.187C>G	10.37:g.120867611C>G	ENSP00000354688:p.Gln63Glu					FAM45A_uc010qsv.1_Missense_Mutation_p.Q55E|FAM45A_uc010qsw.1_5'UTR|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Intron	p.Q63E	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN		all cancers(201;0.0293)	2	231	+		Lung NSC(174;0.094)|all_lung(145;0.123)	63					B1AMV6|B4DDC3|D3DRC8|Q9NXW4	Missense_Mutation	SNP	ENST00000361432.2	37	c.187C>G	CCDS7609.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839802	0.91117	.	.	ENSG00000119979	ENST00000535029;ENST00000546291;ENST00000361432	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	M	0.61703	1.905	0.80722	D	1	P;P	0.35612	0.493;0.512	B;B	0.35931	0.214;0.116	T	0.66093	-0.6009	9	0.66056	D	0.02	.	18.7557	0.91832	0.0:1.0:0.0:0.0	.	55;63	Q8TCE6-2;Q8TCE6	.;FA45A_HUMAN	E	63	.	ENSP00000354688:Q63E	Q	+	1	0	FAM45A	120857601	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.142000	0.77339	2.869000	0.98440	0.558000	0.71614	CAG		0.388	FAM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050623.1	NM_207009		13	178	0	0	0	0.003163	0	13	178				
LMNTD2	256329	broad.mit.edu	37	11	555798	555798	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:555798G>A	ENST00000329451.3	-	12	1572	c.1510C>T	c.(1510-1512)Cgc>Tgc	p.R504C	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		504	Pro-rich.							p.R504C(1)		NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGGTGGGCGCGGCGGCTTG	0.766																																							uc001lpx.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1510-1512)CGC>TGC		hypothetical protein LOC256329							6.0	7.0	7.0					11																	555798		1687	3530	5217	SO:0001583	missense	256329							g.chr11:555798G>A																												ENST00000329451.3:c.1510C>T	11.37:g.555798G>A	ENSP00000331167:p.Arg504Cys					uc001lpy.2_5'Flank	p.R504C	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	12	1573	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	504			Pro-rich.			Missense_Mutation	SNP	ENST00000329451.3	37	c.1510C>T	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319981	0.23994	.	.	ENSG00000185522	ENST00000329451	T	0.46451	0.87	3.61	-1.1	0.09872	.	1.532020	0.04057	N	0.305779	T	0.21267	0.0512	N	0.12182	0.205	0.09310	N	1	B	0.16166	0.016	B	0.06405	0.002	T	0.12967	-1.0527	10	0.35671	T	0.21	-27.2714	0.5321	0.00630	0.3384:0.1753:0.3078:0.1784	.	504	Q8IXW0	CK035_HUMAN	C	504	ENSP00000331167:R504C	ENSP00000331167:R504C	R	-	1	0	C11orf35	545798	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.325000	0.02687	-0.000000	0.14550	0.511000	0.50034	CGC		0.766	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			3	7	0	0	0	0.004672	0	3	7				
PNPLA2	57104	broad.mit.edu	37	11	821651	821651	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:821651G>C	ENST00000336615.4	+	3	413	c.211G>C	c.(211-213)Gag>Cag	p.E71Q	AP006621.8_ENST00000532946.1_RNA|AP006621.8_ENST00000528982.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	71	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)	p.E71Q(1)		breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAAGTTCATTGAGGTATCTAA	0.597																																							uc001lrt.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(211-213)GAG>CAG		patatin-like phospholipase domain containing 2							37.0	39.0	39.0					11																	821651		2203	4299	6502	SO:0001583	missense	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:821651G>C	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.211G>C	11.37:g.821651G>C	ENSP00000337701:p.Glu71Gln					PNPLA2_uc009ycl.2_5'Flank	p.E71Q	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	413	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	71			Lumenal (Potential).|Patatin.		O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP	ENST00000336615.4	37	c.211G>C	CCDS7718.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180330	0.78677	.	.	ENSG00000177666	ENST00000336615	T	0.78364	-1.17	4.48	4.48	0.54585	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.425094	0.24945	N	0.034350	T	0.79644	0.4481	L	0.51422	1.61	0.36804	D	0.885505	B	0.34399	0.452	P	0.47705	0.555	T	0.79738	-0.1677	10	0.28530	T	0.3	-18.0384	13.3832	0.60780	0.0:0.2082:0.7918:0.0	.	71	Q96AD5	PLPL2_HUMAN	Q	71	ENSP00000337701:E71Q	ENSP00000337701:E71Q	E	+	1	0	PNPLA2	811651	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	5.952000	0.70282	2.312000	0.78011	0.561000	0.74099	GAG		0.597	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		5	24	0	0	0	0.000602	0	5	24				
TSSC4	10078	broad.mit.edu	37	11	2424159	2424159	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:2424159G>C	ENST00000333256.6	+	3	739	c.296G>C	c.(295-297)tGc>tCc	p.C99S	TSSC4_ENST00000380996.5_Missense_Mutation_p.C35S|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380992.1_Missense_Mutation_p.C35S|TSSC4_ENST00000451491.2_Missense_Mutation_p.C99S			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	99								p.C99S(1)		endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCTTTGACTGCCTGGAGGGG	0.662																																							uc001lwj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(295-297)TGC>TCC		tumor suppressing subtransferable candidate 4							22.0	23.0	22.0					11																	2424159		2200	4296	6496	SO:0001583	missense	10078							g.chr11:2424159G>C	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.296G>C	11.37:g.2424159G>C	ENSP00000331087:p.Cys99Ser					TSSC4_uc001lwi.2_Missense_Mutation_p.C35S|TSSC4_uc001lwk.2_Missense_Mutation_p.C99S|TSSC4_uc001lwl.2_Missense_Mutation_p.C99S	p.C99S	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)	4	657	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	99					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.296G>C	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	G	9.457	1.092157	0.20471	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000380992;ENST00000437110;ENST00000435795;ENST00000485682;ENST00000440813;ENST00000496468;ENST00000451491	T;T;T;T;T;T;T;T;T	0.57907	1.05;1.05;1.05;1.05;0.37;0.38;1.05;1.05;1.05	3.37	2.44	0.29823	.	0.350110	0.27866	U	0.017521	T	0.35998	0.0951	L	0.31926	0.97	0.25711	N	0.985483	B;B	0.30281	0.13;0.275	B;B	0.27170	0.077;0.077	T	0.15723	-1.0427	10	0.13853	T	0.58	-2.9778	11.3002	0.49300	0.0:0.0:0.8164:0.1836	.	99;35	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	S	35;99;35;99;99;99;35;99;99	ENSP00000370384:C35S;ENSP00000331087:C99S;ENSP00000370380:C35S;ENSP00000396925:C99S;ENSP00000403475:C99S;ENSP00000431430:C99S;ENSP00000416937:C35S;ENSP00000435013:C99S;ENSP00000411224:C99S	ENSP00000331087:C99S	C	+	2	0	TSSC4	2380735	1.000000	0.71417	0.199000	0.23439	0.797000	0.45037	4.774000	0.62339	0.763000	0.33175	-0.475000	0.04921	TGC		0.662	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		2	10	0	0	0	0.004672	0	2	10				
CREB3L1	90993	broad.mit.edu	37	11	46332651	46332651	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:46332651C>G	ENST00000529193.1	+	5	1115	c.664C>G	c.(664-666)Ccc>Gcc	p.P222A	CREB3L1_ENST00000288400.3_Missense_Mutation_p.P222A			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	222					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.P222A(1)	FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CTCCCAGAGTCCCCGCTCTCT	0.677			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	Pancreas(3;159 194 19597 26278 47995)	uc001ncf.2		NA		Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	1	Substitution - Missense(1)		lung(1)	soft_tissue(6)|ovary(2)	8						c.(664-666)CCC>GCC		cAMP responsive element binding protein 3-like							37.0	44.0	42.0					11																	46332651		2023	4165	6188	SO:0001583	missense	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46332651C>G		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.664C>G	11.37:g.46332651C>G	ENSP00000434939:p.Pro222Ala						p.P222A	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	5	1099	+			222			Cytoplasmic (Potential).		Q8N2D5|Q96CP0	Missense_Mutation	SNP	ENST00000529193.1	37	c.664C>G	CCDS53620.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658016	0.88154	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.71103	-0.54;-0.54	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.80894	0.4711	M	0.72479	2.2	0.51482	D	0.999927	D	0.62365	0.991	P	0.56514	0.8	T	0.82041	-0.0654	10	0.51188	T	0.08	0.0583	18.7913	0.91975	0.0:1.0:0.0:0.0	.	222	Q96BA8	CR3L1_HUMAN	A	222;222;134	ENSP00000434939:P222A;ENSP00000288400:P222A	ENSP00000288400:P222A	P	+	1	0	CREB3L1	46289227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.452000	0.82932	0.650000	0.86243	CCC		0.677	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		5	52	0	0	0	0.000602	0	5	52				
CREB3L1	90993	broad.mit.edu	37	11	46332680	46332680	+	Silent	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:46332680C>G	ENST00000529193.1	+	5	1144	c.693C>G	c.(691-693)gtC>gtG	p.V231V	CREB3L1_ENST00000288400.3_Silent_p.V231V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	231					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.V231V(1)	FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CCAGCCCTGTCAGGCCCATGG	0.672			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	Pancreas(3;159 194 19597 26278 47995)	uc001ncf.2		NA		Dom	yes		11	11p11.2	90993	T	cAMP responsive element binding protein 3-like 1			M	FUS		myxofibrosarcoma	FUS/CREB3L1(6)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(6)|ovary(2)	8						c.(691-693)GTC>GTG		cAMP responsive element binding protein 3-like							25.0	31.0	29.0					11																	46332680		1969	4141	6110	SO:0001819	synonymous_variant	90993				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:46332680C>G		CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.693C>G	11.37:g.46332680C>G							p.V231V	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN		GBM - Glioblastoma multiforme(35;0.0285)	5	1128	+			231			Cytoplasmic (Potential).		Q8N2D5|Q96CP0	Silent	SNP	ENST00000529193.1	37	c.693C>G	CCDS53620.1																																																																																				0.672	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389702.1	NM_052854		3	23	0	0	0	0.009096	0	3	23				
MTA2	9219	broad.mit.edu	37	11	62363320	62363320	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:62363320C>G	ENST00000278823.2	-	13	1547	c.1158G>C	c.(1156-1158)atG>atC	p.M386I	MTA2_ENST00000524902.1_Missense_Mutation_p.M213I|MTA2_ENST00000527204.1_Missense_Mutation_p.M213I	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	386					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.M386I(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GGCGGCACTGCATGTTAGGTG	0.582																																							uc001ntq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1156-1158)ATG>ATC		metastasis-associated protein 2							69.0	68.0	68.0					11																	62363320		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62363320C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1158G>C	11.37:g.62363320C>G	ENSP00000278823:p.Met386Ile					MTA2_uc010rlx.1_Missense_Mutation_p.M213I	p.M386I	NM_004739	NP_004730	O94776	MTA2_HUMAN			13	1539	-			386			GATA-type; atypical.		Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1158G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501072	0.85176	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	D;D;D	0.99488	-6.0;-6.0;-6.0	5.87	5.87	0.94306	Zinc finger, GATA-type (2);	0.037041	0.85682	D	0.000000	D	0.99390	0.9785	M	0.78049	2.395	0.80722	D	1	P	0.49559	0.925	D	0.65140	0.932	D	0.99955	1.1621	10	0.18710	T	0.47	-22.0594	17.7165	0.88338	0.0:1.0:0.0:0.0	.	386	O94776	MTA2_HUMAN	I	386;213;213	ENSP00000278823:M386I;ENSP00000431346:M213I;ENSP00000431797:M213I	ENSP00000278823:M386I	M	-	3	0	MTA2	62119896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.618000	0.83043	2.778000	0.95560	0.650000	0.86243	ATG		0.582	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		11	48	0	0	0	0.010729	0	11	48				
SNX32	254122	broad.mit.edu	37	11	65617697	65617697	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:65617697C>G	ENST00000308342.6	+	4	754	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)	p.S110C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGGGACAGCTCTGTCACTCGG	0.597																																							uc001ofr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(328-330)TCT>TGT		sorting nexin 6B							69.0	71.0	71.0					11																	65617697		2201	4297	6498	SO:0001583	missense	254122				cell communication|protein transport		phosphatidylinositol binding	g.chr11:65617697C>G	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.329C>G	11.37:g.65617697C>G	ENSP00000310620:p.Ser110Cys					SNX32_uc009yqt.2_3'UTR|SNX32_uc010rop.1_Missense_Mutation_p.L150V	p.S110C	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN		READ - Rectum adenocarcinoma(159;0.171)	4	456	+			110			PX.		Q8IW53|Q96NG4	Missense_Mutation	SNP	ENST00000308342.6	37	c.329C>G	CCDS8113.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974637	0.74360	.	.	ENSG00000172803	ENST00000308342	T	0.37411	1.2	4.56	3.65	0.41850	Phox homologous domain (4);	0.954215	0.08701	N	0.906426	T	0.54663	0.1872	M	0.81682	2.555	0.33316	D	0.566749	D	0.54601	0.967	P	0.54590	0.756	T	0.59413	-0.7459	10	0.46703	T	0.11	-20.8379	10.1247	0.42643	0.0:0.9019:0.0:0.0981	.	110	Q86XE0	SNX32_HUMAN	C	110	ENSP00000310620:S110C	ENSP00000310620:S110C	S	+	2	0	SNX32	65374273	0.988000	0.35896	0.171000	0.22900	0.935000	0.57460	3.416000	0.52707	1.136000	0.42199	0.561000	0.74099	TCT		0.597	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250295.3	NM_152760		6	47	0	0	0	0.001984	0	6	47				
SLCO2B1	11309	broad.mit.edu	37	11	74915502	74915502	+	Silent	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:74915502T>A	ENST00000289575.5	+	14	2402	c.2007T>A	c.(2005-2007)gtT>gtA	p.V669V	SLCO2B1_ENST00000454962.2_Silent_p.V442V|SLCO2B1_ENST00000428359.2_Silent_p.V647V|SLCO2B1_ENST00000341411.4_Silent_p.V442V|SLCO2B1_ENST00000525650.1_Silent_p.V525V|SLCO2B1_ENST00000532236.1_Silent_p.V553V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	669					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)	p.V669V(1)		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)	TCGCCTTAGTTTTGGCTGTCC	0.547																																							uc001owb.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(2005-2007)GTT>GTA		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						128.0	111.0	117.0					11																	74915502		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74915502T>A	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.2007T>A	11.37:g.74915502T>A						SLCO2B1_uc010rrr.1_Silent_p.V525V|SLCO2B1_uc010rrs.1_Silent_p.V553V|SLCO2B1_uc001owc.2_Silent_p.V442V|SLCO2B1_uc001owd.2_Silent_p.V647V	p.V669V	NM_007256	NP_009187	O94956	SO2B1_HUMAN			14	2394	+			669			Helical; Name=12; (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.2007T>A	CCDS8235.1																																																																																				0.547	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		12	78	0	0	0	0.001368	0	12	78				
RAB38	23682	broad.mit.edu	37	11	87847182	87847182	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:87847182T>C	ENST00000243662.6	-	3	692	c.610A>G	c.(610-612)Agc>Ggc	p.S204G	RP11-164N3.3_ENST00000528458.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	204					endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome acidification (GO:0090383)|platelet dense granule organization (GO:0060155)|protein localization to membrane (GO:0072657)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)	p.S204G(1)		large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CCAGAGCAGCTGGCAACCTTG	0.478																																							uc001pcj.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(610-612)AGC>GGC		RAB38							137.0	128.0	131.0					11																	87847182		2201	4299	6500	SO:0001583	missense	23682				protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity	g.chr11:87847182T>C	AF235022	CCDS8281.1	11q14	2008-05-14			ENSG00000123892	ENSG00000123892		"""RAB, member RAS oncogene"""	9776	protein-coding gene	gene with protein product		606281				10910072	Standard	NM_022337		Approved	NY-MEL-1	uc001pcj.2	P57729	OTTHUMG00000167288	ENST00000243662.6:c.610A>G	11.37:g.87847182T>C	ENSP00000243662:p.Ser204Gly						p.S204G	NM_022337	NP_071732	P57729	RAB38_HUMAN			3	657	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	204					Q53XK7	Missense_Mutation	SNP	ENST00000243662.6	37	c.610A>G	CCDS8281.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.21|10.21	1.287126|1.287126	0.23478|0.23478	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000526372|ENST00000243662	.|T	.|0.70631	.|-0.5	5.47|5.47	4.33|4.33	0.51752|0.51752	.|.	.|0.095577	.|0.64402	.|D	.|0.000001	T|T	0.45895|0.45895	0.1365|0.1365	N|N	0.08118|0.08118	0|0	0.41488|0.41488	D|D	0.988202|0.988202	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.39860|0.39860	-0.9593|-0.9593	5|9	.|.	.|.	.|.	-1.2845|-1.2845	9.1095|9.1095	0.36718|0.36718	0.0:0.0865:0.0:0.9135|0.0:0.0865:0.0:0.9135	.|.	.|204	.|P57729	.|RAB38_HUMAN	R|G	202|204	.|ENSP00000243662:S204G	.|.	Q|S	-|-	2|1	0|0	RAB38|RAB38	87486830|87486830	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.173000|0.173000	0.22820|0.22820	4.498000|4.498000	0.60373|0.60373	2.199000|2.199000	0.70637|0.70637	0.528000|0.528000	0.53228|0.53228	CAG|AGC		0.478	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394015.2			20	100	0	0	0	0.007413	0	20	100				
FOLH1B	219595	broad.mit.edu	37	11	89405072	89405072	+	RNA	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:89405072G>T	ENST00000532352.1	+	0	1012							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.G67*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TGTCATTCTGGGAGGTCACCG	0.413																																							uc001pda.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(199-201)GGA>TGA		folate hydrolase 1B							112.0	107.0	109.0					11																	89405072		2201	4296	6497			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405072G>T	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405072G>T							p.G67*	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			5	725	+			67						Nonsense_Mutation	SNP	ENST00000532352.1	37	c.199G>T																																																																																					0.413	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		20	110	1	0	5.26018e-13	0.012319	7.24774e-13	20	110				
FOLH1B	219595	broad.mit.edu	37	11	89405092	89405092	+	RNA	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:89405092G>C	ENST00000532352.1	+	0	1032							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.W73C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGGACTCATGGGTGTTTGGTG	0.413																																							uc001pda.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(217-219)TGG>TGC		folate hydrolase 1B							157.0	147.0	150.0					11																	89405092		2201	4296	6497			219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405092G>C	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405092G>C							p.W73C	NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN			5	745	+			73						Missense_Mutation	SNP	ENST00000532352.1	37	c.219G>C																																																																																					0.413	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		22	123	0	0	0	0.00278	0	22	123				
SLC36A4	120103	broad.mit.edu	37	11	92899090	92899090	+	Silent	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:92899090T>A	ENST00000326402.4	-	8	991	c.861A>T	c.(859-861)atA>atT	p.I287I	SLC36A4_ENST00000529184.1_Silent_p.I152I	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	287					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.I287I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTACCACTCCTATGCCTTCAA	0.323																																							uc001pdn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(859-861)ATA>ATT		solute carrier family 36 (proton/amino acid							47.0	48.0	48.0					11																	92899090		2201	4297	6498	SO:0001819	synonymous_variant	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92899090T>A	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.861A>T	11.37:g.92899090T>A						SLC36A4_uc001pdm.2_Silent_p.I152I	p.I287I	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			8	958	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	287			Helical; (Potential).		Q86X30|Q8IVM5|Q8N8S6	Silent	SNP	ENST00000326402.4	37	c.861A>T	CCDS8291.1																																																																																				0.323	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2			6	24	0	0	0	0.001168	0	6	24				
PIWIL4	143689	broad.mit.edu	37	11	94316682	94316682	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:94316682G>A	ENST00000299001.6	+	5	793	c.582G>A	c.(580-582)gaG>gaA	p.E194E	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	194					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|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)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.E194E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGAAGAGGGAGCTGCCATCAA	0.418																																							uc001pfa.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(580-582)GAG>GAA		piwi-like 4							162.0	163.0	163.0					11																	94316682		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94316682G>A	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.582G>A	11.37:g.94316682G>A						PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA	p.E194E	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			5	793	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	194					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.582G>A	CCDS31656.1																																																																																				0.418	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		16	228	0	0	0	0.00499	0	16	228				
GRIA4	2893	broad.mit.edu	37	11	105483079	105483079	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:105483079C>T	ENST00000530497.1	+	2	165	c.165C>T	c.(163-165)ccC>ccT	p.P55P	GRIA4_ENST00000428631.2_Silent_p.P55P|GRIA4_ENST00000525187.1_Silent_p.P55P|GRIA4_ENST00000393125.2_Silent_p.P55P|GRIA4_ENST00000393127.2_Silent_p.P55P|GRIA4_ENST00000282499.5_Silent_p.P55P|GRIA4_ENST00000527669.1_Silent_p.P55P			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	55					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	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)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	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)	p.P55P(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ACACCAGCCCCAATGCGTCGG	0.408																																							uc001pix.2		NA																	3	Substitution - coding silent(3)		lung(3)	ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(163-165)CCC>CCT		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						134.0	117.0	123.0					11																	105483079		2202	4299	6501	SO:0001819	synonymous_variant	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105483079C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.165C>T	11.37:g.105483079C>T						GRIA4_uc001piu.1_Silent_p.P55P|GRIA4_uc001piw.2_Silent_p.P55P|GRIA4_uc001piv.2_Silent_p.P55P|GRIA4_uc009yxk.1_Silent_p.P55P|GRIA4_uc001pit.2_Silent_p.P55P	p.P55P	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	3	611	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	55			Extracellular (Potential).		Q86XE8	Silent	SNP	ENST00000530497.1	37	c.165C>T	CCDS8333.1																																																																																				0.408	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			22	101	0	0	0	0.003954	0	22	101				
TTC12	54970	broad.mit.edu	37	11	113230118	113230118	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:113230118G>A	ENST00000529221.1	+	17	1585	c.1480G>A	c.(1480-1482)Gag>Aag	p.E494K	TTC12_ENST00000314756.3_Missense_Mutation_p.E494K|TTC12_ENST00000483239.2_Missense_Mutation_p.E500K|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000393020.1_Missense_Mutation_p.E494K	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	494								p.E494K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CCTGTTCAGAGAGGTTATCTA	0.493																																							uc001pnu.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1480-1482)GAG>AAG		tetratricopeptide repeat domain 12							307.0	253.0	271.0					11																	113230118		2201	4296	6497	SO:0001583	missense	54970						binding	g.chr11:113230118G>A	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1480G>A	11.37:g.113230118G>A	ENSP00000433757:p.Glu494Lys					TTC12_uc001pnv.2_Missense_Mutation_p.E500K|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Missense_Mutation_p.E344K	p.E494K	NM_017868	NP_060338	Q9H892	TTC12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)	17	1585	+		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)	494					Q8N5H9|Q9NWY3	Missense_Mutation	SNP	ENST00000529221.1	37	c.1480G>A	CCDS8360.2	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718931	0.68844	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	1.818130	0.02557	N	0.096348	T	0.59838	0.2223	M	0.67953	2.075	0.42862	D	0.994111	P;P	0.44241	0.829;0.829	B;B	0.42916	0.402;0.402	T	0.55121	-0.8190	10	0.66056	D	0.02	-4.6824	16.6159	0.84916	0.0:0.0:1.0:0.0	.	494;494	A8K8G6;Q9H892	.;TTC12_HUMAN	K	494;494;494;500	ENSP00000433757:E494K;ENSP00000315160:E494K;ENSP00000376743:E494K;ENSP00000419652:E500K	ENSP00000315160:E494K	E	+	1	0	TTC12	112735328	1.000000	0.71417	0.992000	0.48379	0.582000	0.36321	5.534000	0.67167	2.700000	0.92200	0.655000	0.94253	GAG		0.493	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286455.2	NM_017868		18	131	0	0	0	0.008871	0	18	131				
BUD13	84811	broad.mit.edu	37	11	116633907	116633907	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:116633907T>A	ENST00000260210.4	-	4	421	c.398A>T	c.(397-399)cAt>cTt	p.H133L	BUD13_ENST00000375445.3_Missense_Mutation_p.H133L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	133	Arg-rich.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)	p.H133L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TGGGGTACCATGACGGACCCT	0.537																																							uc001ppn.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(397-399)CAT>CTT		BUD13 homolog isoform 1							94.0	101.0	99.0					11																	116633907		2201	4295	6496	SO:0001583	missense	84811							g.chr11:116633907T>A	BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.398A>T	11.37:g.116633907T>A	ENSP00000260210:p.His133Leu					BUD13_uc001ppo.2_Missense_Mutation_p.H133L|BUD13_uc009yzc.2_Missense_Mutation_p.H133L	p.H133L	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)	4	432	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	133			Arg-rich.		A8K0S0|Q96LS7	Missense_Mutation	SNP	ENST00000260210.4	37	c.398A>T	CCDS8374.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210676	0.58343	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.18016	2.24;2.26	5.35	5.35	0.76521	.	0.216425	0.47455	D	0.000228	T	0.39226	0.1070	M	0.68317	2.08	0.49130	D	0.999755	D;D;D	0.76494	0.997;0.999;0.987	P;D;P	0.67231	0.851;0.95;0.701	T	0.20706	-1.0267	10	0.87932	D	0	-5.0637	14.6692	0.68932	0.0:0.0:0.0:1.0	.	133;133;133	A8K4Z6;Q9BRD0-2;Q9BRD0	.;.;BUD13_HUMAN	L	133	ENSP00000364594:H133L;ENSP00000260210:H133L	ENSP00000260210:H133L	H	-	2	0	BUD13	116139117	0.997000	0.39634	0.633000	0.29310	0.030000	0.12068	2.713000	0.47194	2.244000	0.73946	0.533000	0.62120	CAT		0.537	BUD13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000104864.1	NM_032725		19	109	0	0	0	0.008871	0	19	109				
UBE4A	9354	broad.mit.edu	37	11	118263480	118263480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:118263480G>T	ENST00000431736.2	+	19	3037	c.2965G>T	c.(2965-2967)Gag>Tag	p.E989*	UBE4A_ENST00000545354.1_Nonsense_Mutation_p.E454*|UBE4A_ENST00000252108.3_Nonsense_Mutation_p.E982*					ubiquitination factor E4A									p.E989*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACAACAGGAAGAGGAAACCTA	0.473																																							uc001psw.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5						c.(2944-2946)GAG>TAG		ubiquitination factor E4A							153.0	138.0	143.0					11																	118263480		2200	4296	6496	SO:0001587	stop_gained	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118263480G>T	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.2965G>T	11.37:g.118263480G>T	ENSP00000387362:p.Glu989*					UBE4A_uc001psv.2_Nonsense_Mutation_p.E989*	p.E982*	NM_004788	NP_004779	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	19	3073	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	982						Nonsense_Mutation	SNP	ENST00000431736.2	37	c.2944G>T	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	G	42	9.566046	0.99207	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-16.5813	20.3931	0.98965	0.0:0.0:1.0:0.0	.	.	.	.	X	982;989;454	.	ENSP00000252108:E982X	E	+	1	0	UBE4A	117768690	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAG		0.473	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	NM_004788		24	104	1	0	5.45024e-15	0.00333	7.65931e-15	24	104				
KMT2A	4297	broad.mit.edu	37	11	118359361	118359361	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr11:118359361C>T	ENST00000389506.5	+	11	4365	c.4365C>T	c.(4363-4365)ttC>ttT	p.F1455F	KMT2A_ENST00000354520.4_Silent_p.F1417F|KMT2A_ENST00000534358.1_Silent_p.F1455F			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1455					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.F1455F(2)									GTGAGCCCTTCCACAAGTTTT	0.418																																							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		2	Substitution - coding silent(2)		lung(2)	lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(4363-4365)TTC>TTT		myeloid/lymphoid or mixed-lineage leukemia							142.0	131.0	134.0					11																	118359361		2200	4296	6496	SO:0001819	synonymous_variant	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.chr11:118359361C>T	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.4365C>T	11.37:g.118359361C>T						MLL_uc001ptb.2_Silent_p.F1455F|MLL_uc001pte.1_RNA	p.F1455F	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)	11	4388	+	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)	1455			PHD-type 1.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	c.4365C>T	CCDS31686.1																																																																																				0.418	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		9	90	0	0	0	0.008291	0	9	90				
TAS2R30	259293	broad.mit.edu	37	12	11286483	11286483	+	Missense_Mutation	SNP	T	T	A	rs201847619		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:11286483T>A	ENST00000539585.1	-	1	760	c.361A>T	c.(361-363)Ata>Tta	p.I121L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	121					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)	p.I121L(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CTCCTCTTTATGCGAAGAAAA	0.413																																							uc009zhs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(361-363)ATA>TTA		type 2 taste receptor member 30							115.0	119.0	118.0					12																	11286483		2039	4222	6261	SO:0001583	missense	259293							g.chr12:11286483T>A	AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.361A>T	12.37:g.11286483T>A	ENSP00000444736:p.Ile121Leu					PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	p.I121L	NM_001097643	NP_001091112					1	361	-								Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	c.361A>T	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	0.012	-1.658860	0.00772	.	.	ENSG00000256188	ENST00000539585	T	0.00476	7.15	2.7	-1.64	0.08318	.	.	.	.	.	T	0.00073	0.0002	N	0.00018	-2.815	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.43845	-0.9366	9	0.02654	T	1	.	2.5964	0.04855	0.2154:0.0:0.3378:0.4468	.	121	P59541	T2R30_HUMAN	L	121	ENSP00000444736:I121L	ENSP00000444736:I121L	I	-	1	0	TAS2R30	11177750	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.938000	0.03938	-0.550000	0.06183	-0.907000	0.02831	ATA		0.413	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643		19	110	0	0	0	0.008871	0	19	110				
GRIN2B	2904	broad.mit.edu	37	12	13715803	13715803	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:13715803G>A	ENST00000609686.1	-	13	4578	c.4369C>T	c.(4369-4371)Cct>Tct	p.P1457S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1457					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.P1457S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTGTTGTTAGGCACACAGGGG	0.522																																							uc001rbt.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(4369-4371)CCT>TCT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						116.0	114.0	115.0					12																	13715803		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13715803G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4369C>T	12.37:g.13715803G>A	ENSP00000477455:p.Pro1457Ser						p.P1457S	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	4548	-			1457			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.4369C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	8.582	0.882480	0.17467	.	.	ENSG00000150086	ENST00000279593	T	0.09723	2.95	5.04	5.04	0.67666	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.262244	0.39615	N	0.001303	T	0.05593	0.0147	N	0.08118	0	0.42926	D	0.994306	B	0.06786	0.001	B	0.10450	0.005	T	0.41270	-0.9518	10	0.13853	T	0.58	.	11.9761	0.53091	0.0785:0.0:0.9215:0.0	.	1457	Q13224	NMDE2_HUMAN	S	1457	ENSP00000279593:P1457S	ENSP00000279593:P1457S	P	-	1	0	GRIN2B	13607070	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.295000	0.65692	2.614000	0.88457	0.655000	0.94253	CCT		0.522	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			10	123	0	0	0	0.008291	0	10	123				
GRIN2B	2904	broad.mit.edu	37	12	13906490	13906490	+	Silent	SNP	G	G	A	rs142203984		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:13906490G>A	ENST00000609686.1	-	3	980	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	257					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.I257I(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GACTGGGCACGATCCACGTGT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		19949	0.001		0.0	False		,,,				2504	0.0						uc001rbt.2		NA																	2	Substitution - coding silent(2)	p.I257I(1)	lung(1)|skin(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(769-771)ATC>ATT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						92.0	89.0	90.0					12																	13906490		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906490G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.771C>T	12.37:g.13906490G>A							p.I257I	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			3	950	-			257			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.771C>T	CCDS8662.1																																																																																				0.532	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			5	45	0	0	0	0.00308	0	5	45				
RECQL	5965	broad.mit.edu	37	12	21636334	21636334	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:21636334G>A	ENST00000444129.2	-	6	1144	c.676C>T	c.(676-678)Cag>Tag	p.Q226*	RECQL_ENST00000421138.2_Nonsense_Mutation_p.Q226*	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	226	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.Q226*(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TGTCCCCACTGACTACAGCAG	0.388								Other identified genes with known or suspected DNA repair function																															uc001rex.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)	2						c.(676-678)CAG>TAG	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like							135.0	116.0	122.0					12																	21636334		2203	4300	6503	SO:0001587	stop_gained	5965				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding	g.chr12:21636334G>A	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.676C>T	12.37:g.21636334G>A	ENSP00000416739:p.Gln226*					RECQL_uc001rey.2_Nonsense_Mutation_p.Q226*	p.Q226*	NM_032941	NP_116559	P46063	RECQ1_HUMAN			7	1024	-			226			Helicase ATP-binding.		A8K6G2	Nonsense_Mutation	SNP	ENST00000444129.2	37	c.676C>T	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	G	37	5.978727	0.97168	.	.	ENSG00000004700	ENST00000444129;ENST00000421138	.	.	.	4.37	4.37	0.52481	.	0.242356	0.43416	D	0.000562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	0.7618	17.4859	0.87688	0.0:0.0:1.0:0.0	.	.	.	.	X	226	.	ENSP00000395449:Q226X	Q	-	1	0	RECQL	21527601	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.584000	0.98220	2.413000	0.81919	0.563000	0.77884	CAG		0.388	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907		12	101	0	0	0	0.001855	0	12	101				
NELL2	4753	broad.mit.edu	37	12	45170870	45170870	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:45170870C>G	ENST00000429094.2	-	7	1221	c.717G>C	c.(715-717)caG>caC	p.Q239H	NELL2_ENST00000333837.4_Missense_Mutation_p.Q262H|NELL2_ENST00000437801.2_Missense_Mutation_p.Q289H|NELL2_ENST00000395487.2_Missense_Mutation_p.Q238H|NELL2_ENST00000547172.1_5'Flank|NELL2_ENST00000551601.1_Missense_Mutation_p.Q238H|NELL2_ENST00000549027.1_Missense_Mutation_p.Q238H|NELL2_ENST00000452445.2_Missense_Mutation_p.Q239H	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	239						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.Q289H(1)|p.Q239H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCATGATTTTCTGCACAAGTC	0.393																																							uc001rog.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(715-717)CAG>CAC		NEL-like protein 2 isoform b precursor							148.0	142.0	144.0					12																	45170870		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45170870C>G	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.717G>C	12.37:g.45170870C>G	ENSP00000390680:p.Gln239His					NELL2_uc001rof.3_Missense_Mutation_p.Q238H|NELL2_uc001roh.2_Missense_Mutation_p.Q239H|NELL2_uc009zkd.2_Missense_Mutation_p.Q238H|NELL2_uc010skz.1_Missense_Mutation_p.Q289H|NELL2_uc010sla.1_Missense_Mutation_p.Q262H|NELL2_uc001roi.1_Missense_Mutation_p.Q239H|NELL2_uc010slb.1_Missense_Mutation_p.Q238H|NELL2_uc001roj.2_Missense_Mutation_p.Q239H	p.Q239H	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	7	1312	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	239			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.717G>C	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867543	0.72065	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000550462;ENST00000552993	D;D;T;D;D;D;D;T;T	0.82433	-1.56;-1.54;-1.25;-1.54;-1.56;-1.5;-1.61;1.66;2.65	5.62	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.89546	0.6746	M	0.70595	2.14	0.80722	D	1	D;D;D;D;P;D	0.67145	0.996;0.991;0.968;0.99;0.947;0.991	D;D;P;D;P;D	0.75484	0.986;0.916;0.751;0.979;0.568;0.916	D	0.88480	0.3068	10	0.33940	T	0.23	-14.6615	14.6188	0.68569	0.0:0.93:0.0:0.07	.	262;289;238;239;239;238	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	H	238;239;238;239;238;262;289;238;12;239	ENSP00000378866:Q238H;ENSP00000390680:Q239H;ENSP00000449332:Q238H;ENSP00000394612:Q239H;ENSP00000447927:Q238H;ENSP00000327988:Q262H;ENSP00000416341:Q289H;ENSP00000450102:Q12H;ENSP00000447085:Q239H	ENSP00000327988:Q262H	Q	-	3	2	NELL2	43457137	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.954000	0.63631	1.381000	0.46364	0.650000	0.86243	CAG		0.393	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		9	84	0	0	0	0.004482	0	9	84				
ARID2	196528	broad.mit.edu	37	12	46233223	46233223	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:46233223T>A	ENST00000334344.6	+	11	1614	c.1442T>A	c.(1441-1443)aTt>aAt	p.I481N	ARID2_ENST00000422737.1_Missense_Mutation_p.I332N|ARID2_ENST00000444670.1_Missense_Mutation_p.I91N|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	481					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I481N(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTATCTGAAATTAGGCCACAA	0.423			"""N, S, F"""		hepatocellular carcinoma																																		uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(1441-1443)ATT>AAT		AT rich interactive domain 2 (ARID, RFX-like)							190.0	173.0	179.0					12																	46233223		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46233223T>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1442T>A	12.37:g.46233223T>A	ENSP00000335044:p.Ile481Asn					ARID2_uc001ror.2_Missense_Mutation_p.I481N|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.I108N|ARID2_uc001rot.1_Missense_Mutation_p.I127N	p.I481N	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	11	1442	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	481					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.1442T>A	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	T	17.75	3.466019	0.63625	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.30981	1.51	5.19	5.19	0.71726	.	0.064020	0.64402	D	0.000004	T	0.27384	0.0672	N	0.22421	0.69	0.80722	D	1	P;B;P	0.43169	0.514;0.026;0.8	P;B;B	0.44518	0.452;0.016;0.188	T	0.03335	-1.1047	10	0.40728	T	0.16	-7.0475	15.3414	0.74300	0.0:0.0:0.0:1.0	.	481;332;481	Q68CP9-3;F8WCU9;Q68CP9	.;.;ARID2_HUMAN	N	481;332;91	ENSP00000335044:I481N	ENSP00000335044:I481N	I	+	2	0	ARID2	44519490	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.745000	0.74860	2.089000	0.63090	0.533000	0.62120	ATT		0.423	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		8	139	0	0	0	0.006214	0	8	139				
FAM186B	84070	broad.mit.edu	37	12	49997097	49997097	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:49997097C>T	ENST00000257894.2	-	3	537	c.376G>A	c.(376-378)Gct>Act	p.A126T	PRPF40B_ENST00000508736.1_Intron|FAM186B_ENST00000544141.1_Missense_Mutation_p.A36T|FAM186B_ENST00000551047.1_Missense_Mutation_p.A126T	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	126						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCGTCCAGAGCTGCTGCTTCC	0.547																																							uc001ruo.2		NA																	0				ovary(1)	1						c.(376-378)GCT>ACT		hypothetical protein LOC84070							199.0	131.0	154.0					12																	49997097		2203	4300	6503	SO:0001583	missense	84070					protein complex		g.chr12:49997097C>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.376G>A	12.37:g.49997097C>T	ENSP00000257894:p.Ala126Thr					FAM186B_uc010smk.1_Missense_Mutation_p.A36T	p.A126T	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN			3	549	-			126					B4DZ15|Q8TCP7|Q9H0L3	Missense_Mutation	SNP	ENST00000257894.2	37	c.376G>A	CCDS8788.1	.	.	.	.	.	.	.	.	.	.	C	0.742	-0.776055	0.02951	.	.	ENSG00000135436	ENST00000544141;ENST00000551047;ENST00000257894	T;T;T	0.46819	2.68;0.86;2.87	4.22	1.18	0.20946	.	0.789244	0.10752	N	0.638169	T	0.39279	0.1072	L	0.57536	1.79	0.09310	N	1	B;B	0.19583	0.037;0.017	B;B	0.19946	0.027;0.012	T	0.31916	-0.9926	9	.	.	.	-0.5732	4.7176	0.12903	0.3836:0.5112:0.0:0.1052	.	36;126	B4DZ15;Q8IYM0	.;F186B_HUMAN	T	36;126;126	ENSP00000438569:A36T;ENSP00000448656:A126T;ENSP00000257894:A126T	.	A	-	1	0	FAM186B	48283364	0.088000	0.21588	0.032000	0.17829	0.061000	0.15899	0.316000	0.19469	0.124000	0.18369	-0.136000	0.14681	GCT		0.547	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		7	53	0	0	0	0.00308	0	7	53				
FAM186B	84070	broad.mit.edu	37	12	49997107	49997107	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:49997107C>T	ENST00000257894.2	-	3	527	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PRPF40B_ENST00000508736.1_Intron|FAM186B_ENST00000544141.1_Silent_p.E32E|FAM186B_ENST00000551047.1_Silent_p.E122E	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	122						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGCTGCTTCCTCTTCACTCT	0.552																																							uc001ruo.2		NA																	0				ovary(1)	1						c.(364-366)GAG>GAA		hypothetical protein LOC84070							182.0	119.0	140.0					12																	49997107		2203	4300	6503	SO:0001819	synonymous_variant	84070					protein complex		g.chr12:49997107C>T	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.366G>A	12.37:g.49997107C>T						FAM186B_uc010smk.1_Silent_p.E32E	p.E122E	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN			3	539	-			122					B4DZ15|Q8TCP7|Q9H0L3	Silent	SNP	ENST00000257894.2	37	c.366G>A	CCDS8788.1																																																																																				0.552	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2	NM_032130		7	45	0	0	0	0.00308	0	7	45				
POU6F1	5463	broad.mit.edu	37	12	51584291	51584291	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:51584291C>T	ENST00000389243.4	-	11	1584	c.645G>A	c.(643-645)cgG>cgA	p.R215R	POU6F1_ENST00000333640.10_Silent_p.R215R|POU6F1_ENST00000550824.1_Silent_p.R215R			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	215					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R215R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CTTCCTGGTTCCGCAGTTCAG	0.572																																							uc001rxy.2		NA																	1	Substitution - coding silent(1)		cervix(1)	ovary(1)	1						c.(643-645)CGG>CGA		POU class 6 homeobox 1							165.0	156.0	159.0					12																	51584291		2203	4300	6503	SO:0001819	synonymous_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584291C>T	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.645G>A	12.37:g.51584291C>T						POU6F1_uc001rxz.2_Silent_p.R215R|POU6F1_uc001rya.2_Silent_p.R215R	p.R215R	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			5	837	-			215					Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.645G>A	CCDS31803.1																																																																																				0.572	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		20	215	0	0	0	0.012319	0	20	215				
DAZAP2	9802	broad.mit.edu	37	12	51636127	51636127	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:51636127G>C	ENST00000412716.3	+	4	1008	c.392G>C	c.(391-393)gGa>gCa	p.G131A	DAZAP2_ENST00000549732.2_Missense_Mutation_p.G99A|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000439799.2_Missense_Mutation_p.G49A|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000551313.1_Missense_Mutation_p.G71A|DAZAP2_ENST00000449723.3_Missense_Mutation_p.G109A|DAZAP2_ENST00000549555.1_Missense_Mutation_p.W105C			Q15038	DAZP2_HUMAN	DAZ associated protein 2	131	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)	p.G131A(1)		haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CCACCTCCTGGATGCCCTCCC	0.542																																							uc010snd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(313-315)TGG>TGC		DAZ associated protein 2 isoform c							320.0	312.0	315.0					12																	51636127		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51636127G>C	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.392G>C	12.37:g.51636127G>C	ENSP00000394699:p.Gly131Ala					DAZAP2_uc001ryb.2_Missense_Mutation_p.G109A|DAZAP2_uc010snc.1_Missense_Mutation_p.G49A|DAZAP2_uc010sne.1_Missense_Mutation_p.G99A|DAZAP2_uc010snf.1_Intron	p.W105C	NM_001136266	NP_001129738	Q15038	DAZP2_HUMAN			4	499	+			Error:Variant_position_missing_in_Q15038_after_alignment					A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.315G>C	CCDS8809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.39|17.39	3.377174|3.377174	0.61735|0.61735	.|.	.|.	ENSG00000183283|ENSG00000183283	ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313|ENST00000549555	T;T;T;T;T|T	0.68331|0.45276	-0.32;-0.32;-0.32;-0.32;-0.32|0.9	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63534|0.63534	0.2519|0.2519	M|M	0.78049|0.78049	2.395|2.395	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|D	0.71674|0.71674	0.998;0.998;0.995|0.998	D;D;P|P	0.87578|0.59012	0.998;0.976;0.901|0.85	T|T	0.67654|0.67654	-0.5615|-0.5615	10|9	0.40728|0.87932	T|D	0.16|0	0.0038|0.0038	18.4195|18.4195	0.90584|0.90584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	99;49;131|105	C9JP84;C9JA96;Q15038|F8VU62	.;.;DAZP2_HUMAN|.	A|C	131;49;99;109;71|105	ENSP00000394699:G131A;ENSP00000398804:G49A;ENSP00000446554:G99A;ENSP00000412812:G109A;ENSP00000447842:G71A|ENSP00000448051:W105C	ENSP00000394699:G131A|ENSP00000448051:W105C	G|W	+|+	2|3	0|0	DAZAP2|DAZAP2	49922394|49922394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.722000|8.722000	0.91452|0.91452	2.726000|2.726000	0.93360|0.93360	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.542	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		33	462	0	0	0	0.002836	0	33	462				
NCKAP1L	3071	broad.mit.edu	37	12	54911422	54911422	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:54911422G>A	ENST00000293373.6	+	12	1280	c.1201G>A	c.(1201-1203)Gac>Aac	p.D401N	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.D351N	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	401					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.D401N(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGACTATGCTGACTCGTTAGT	0.493																																							uc001sgc.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1201-1203)GAC>AAC		NCK-associated protein 1-like							129.0	110.0	116.0					12																	54911422		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54911422G>A	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1201G>A	12.37:g.54911422G>A	ENSP00000293373:p.Asp401Asn					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.D351N	p.D401N	NM_005337	NP_005328	P55160	NCKPL_HUMAN			12	1280	+			401					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1201G>A	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823414	0.90873	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.57907	0.37;0.37	5.8	5.8	0.92144	.	0.091892	0.64402	D	0.000001	T	0.75072	0.3800	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77595	-0.2529	10	0.87932	D	0	-12.8935	17.553	0.87881	0.0:0.0:1.0:0.0	.	401	P55160	NCKPL_HUMAN	N	401;351	ENSP00000293373:D401N;ENSP00000445596:D351N	ENSP00000293373:D401N	D	+	1	0	NCKAP1L	53197689	1.000000	0.71417	0.996000	0.52242	0.935000	0.57460	9.407000	0.97325	2.747000	0.94245	0.462000	0.41574	GAC		0.493	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		4	43	0	0	0	0.009096	0	4	43				
ARHGAP9	64333	broad.mit.edu	37	12	57868455	57868455	+	Missense_Mutation	SNP	G	G	T	rs561435439		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:57868455G>T	ENST00000356411.2	-	14	1878	c.1740C>A	c.(1738-1740)agC>agA	p.S580R	ARHGAP9_ENST00000424809.2_Missense_Mutation_p.S561R|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.S561R|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.S377R|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.S640R|ARHGAP9_ENST00000393797.2_Missense_Mutation_p.S651R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	580	Lipid binding.|Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.S580R(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCAAGTTCCCGCTCACCCGAT	0.512																																							uc001sod.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1951-1953)AGC>AGA		Rho GTPase activating protein 9 isoform 1							112.0	109.0	110.0					12																	57868455		2203	4300	6503	SO:0001583	missense	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57868455G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1740C>A	12.37:g.57868455G>T	ENSP00000348782:p.Ser580Arg					ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.S377R|ARHGAP9_uc001soa.2_Missense_Mutation_p.S250R|ARHGAP9_uc001sob.2_Missense_Mutation_p.S561R|ARHGAP9_uc001soc.2_Missense_Mutation_p.S561R|ARHGAP9_uc001soe.1_Missense_Mutation_p.S640R	p.S651R	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		17	2146	-			580			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Missense_Mutation	SNP	ENST00000356411.2	37	c.1953C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.29|17.29	3.350992|3.350992	0.61183|0.61183	.|.	.|.	ENSG00000123329|ENSG00000123329	ENST00000550399|ENST00000393791;ENST00000356411;ENST00000423291;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000550130	.|T;T;T;T;T;T	.|0.52295	.|0.67;0.67;2.48;0.67;0.67;2.48	5.6|5.6	-9.11|-9.11	0.00711|0.00711	.|Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	.|0.157857	.|0.52532	.|D	.|0.000068	T|T	0.72087|0.72087	0.3417|0.3417	H|H	0.94462|0.94462	3.54|3.54	0.36390|0.36390	D|D	0.862479|0.862479	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.999;0.998;0.999;0.997;0.982	D|D	0.84567|0.84567	0.0653|0.0653	5|10	.|0.87932	.|D	.|0	.|.	19.5081|19.5081	0.95127|0.95127	0.7871:0.0:0.2129:0.0|0.7871:0.0:0.2129:0.0	.|.	.|640;580;561;561;377	.|Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.|.;RHG09_HUMAN;.;.;.	E|R	31|561;580;231;561;651;610;377;68	.|ENSP00000377380:S561R;ENSP00000348782:S580R;ENSP00000394307:S561R;ENSP00000377386:S651R;ENSP00000397950:S377R;ENSP00000448423:S68R	.|ENSP00000344852:S610R	A|S	-|-	2|3	0|2	ARHGAP9|ARHGAP9	56154722|56154722	0.001000|0.001000	0.12720|0.12720	0.301000|0.301000	0.25044|0.25044	0.984000|0.984000	0.73092|0.73092	-1.932000|-1.932000	0.01554|0.01554	-2.071000|-2.071000	0.00880|0.00880	-1.000000|-1.000000	0.02509|0.02509	GCG|AGC		0.512	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		9	126	1	0	0.000442599	0.006214	0.000486284	9	126				
IL22	50616	broad.mit.edu	37	12	68647143	68647143	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:68647143T>A	ENST00000538666.1	-	2	156	c.86A>T	c.(85-87)cAg>cTg	p.Q29L	IL22_ENST00000328087.4_Missense_Mutation_p.Q29L			Q9GZX6	IL22_HUMAN	interleukin 22	29					acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)	p.Q29L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGCTCCTCCCTGTACCAAGAG	0.567																																							uc001sty.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(85-87)CAG>CTG		interleukin 22 precursor							77.0	70.0	72.0					12																	68647143		2203	4300	6503	SO:0001583	missense	50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68647143T>A	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.86A>T	12.37:g.68647143T>A	ENSP00000442424:p.Gln29Leu					IL22_uc010stb.1_Missense_Mutation_p.Q29L	p.Q29L	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	1	139	-		Myeloproliferative disorder(1001;0.0255)	29						Missense_Mutation	SNP	ENST00000538666.1	37	c.86A>T	CCDS8982.1	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024940	0.54683	.	.	ENSG00000127318	ENST00000538666;ENST00000328087	T;T	0.48522	0.81;0.81	5.31	2.76	0.32466	.	0.299706	0.28630	N	0.014667	T	0.40791	0.1131	M	0.69823	2.125	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.26608	-1.0098	9	.	.	.	-8.7886	5.2059	0.15291	0.3126:0.0:0.1624:0.525	.	29	Q9GZX6	IL22_HUMAN	L	29	ENSP00000442424:Q29L;ENSP00000329384:Q29L	.	Q	-	2	0	IL22	66933410	0.209000	0.23505	0.394000	0.26270	0.066000	0.16364	0.809000	0.27168	1.090000	0.41315	0.459000	0.35465	CAG		0.567	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	NM_020525		8	51	0	0	0	0.004482	0	8	51				
SSH1	54434	broad.mit.edu	37	12	109186349	109186349	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:109186349C>G	ENST00000326495.5	-	14	1699	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q	SSH1_ENST00000360239.3_Missense_Mutation_p.E224Q|SSH1_ENST00000326470.5_Missense_Mutation_p.E547Q|SSH1_ENST00000551165.1_Missense_Mutation_p.E536Q	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	536					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E536Q(1)|p.E547Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTCCCTCTCCGGATCCTCC	0.627																																							uc001tnm.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1606-1608)GAG>CAG		slingshot 1 isoform 1							61.0	68.0	65.0					12																	109186349		2203	4300	6503	SO:0001583	missense	54434				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr12:109186349C>G	BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1606G>C	12.37:g.109186349C>G	ENSP00000315713:p.Glu536Gln					SSH1_uc001tnl.2_Missense_Mutation_p.E224Q|SSH1_uc010sxg.1_Missense_Mutation_p.E547Q|SSH1_uc001tnn.3_Missense_Mutation_p.E536Q	p.E536Q	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN			14	1693	-			536					Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	ENST00000326495.5	37	c.1606G>C	CCDS9121.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096607	0.56075	.	.	ENSG00000084112	ENST00000360239;ENST00000326495;ENST00000551165;ENST00000326470	T;T;T;T	0.18657	2.25;2.25;2.24;2.2	5.58	5.58	0.84498	.	405.694000	0.00772	U	0.001214	T	0.47210	0.1433	M	0.71581	2.175	0.41646	D	0.989102	P;P;P;D	0.65815	0.946;0.946;0.911;0.995	P;P;P;P	0.56474	0.781;0.723;0.511;0.799	T	0.14952	-1.0454	10	0.28530	T	0.3	-38.6692	16.2381	0.82393	0.0:0.8674:0.1326:0.0	.	547;536;536;224	Q8WYL5-5;Q8WYL5-2;Q8WYL5;Q8WYL5-4	.;.;SSH1_HUMAN;.	Q	224;536;536;547	ENSP00000353374:E224Q;ENSP00000315713:E536Q;ENSP00000448824:E536Q;ENSP00000326107:E547Q	ENSP00000326107:E547Q	E	-	1	0	SSH1	107710478	0.997000	0.39634	0.916000	0.36221	0.024000	0.10985	3.550000	0.53691	2.793000	0.96121	0.655000	0.94253	GAG		0.627	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403724.1	NM_018984		6	91	0	0	0	0.001984	0	6	91				
FAM222A	84915	broad.mit.edu	37	12	110206380	110206380	+	Missense_Mutation	SNP	G	G	C	rs370934435		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:110206380G>C	ENST00000538780.1	+	3	1362	c.646G>C	c.(646-648)Gca>Cca	p.A216P	FAM222A-AS1_ENST00000541723.1_RNA|FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Missense_Mutation_p.A216P	NM_032829.2	NP_116218.2	Q5U5X8	F222A_HUMAN	family with sequence similarity 222, member A	216	Pro-rich.							p.A216P(1)									CCCGGGCGCCGCACCCCCTGC	0.721																																							uc001tpd.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(646-648)GCA>CCA		hypothetical protein LOC84915							17.0	19.0	18.0					12																	110206380		2138	4193	6331	SO:0001583	missense	84915							g.chr12:110206380G>C	AK027627	CCDS9133.1	12q24.11	2012-04-27	2012-04-27	2012-04-27	ENSG00000139438	ENSG00000139438			25915	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 34"""	C12orf34		12477932	Standard	NM_032829		Approved	FLJ14721	uc001tpd.2	Q5U5X8	OTTHUMG00000169260	ENST00000538780.1:c.646G>C	12.37:g.110206380G>C	ENSP00000443292:p.Ala216Pro					MGC14436_uc010sxs.1_Intron|MGC14436_uc001tpe.2_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.A216P	p.A216P	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN			3	1205	+			216			Pro-rich.		Q8NCD5|Q96SP6	Missense_Mutation	SNP	ENST00000538780.1	37	c.646G>C	CCDS9133.1	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029808	0.35797	.	.	ENSG00000139438	ENST00000538780;ENST00000358906	T;T	0.35973	1.28;1.28	3.82	2.87	0.33458	.	0.320888	0.30410	N	0.009692	T	0.27559	0.0677	L	0.38175	1.15	0.26300	N	0.978	P	0.40794	0.729	B	0.42163	0.378	T	0.11717	-1.0576	10	0.54805	T	0.06	-4.1339	6.1895	0.20516	0.0:0.2939:0.5404:0.1658	.	216	Q5U5X8	CL034_HUMAN	P	216	ENSP00000443292:A216P;ENSP00000351783:A216P	ENSP00000351783:A216P	A	+	1	0	C12orf34	108690763	1.000000	0.71417	0.030000	0.17652	0.986000	0.74619	5.752000	0.68728	1.989000	0.58080	0.491000	0.48974	GCA		0.721	FAM222A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403175.1	NM_032829		3	22	0	0	0	0.009096	0	3	22				
CUX2	23316	broad.mit.edu	37	12	111758260	111758260	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:111758260C>G	ENST00000261726.6	+	17	2601	c.2447C>G	c.(2446-2448)tCt>tGt	p.S816C		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	816					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.S816C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCTGGCTACTCTGGCCAGCCC	0.756																																							uc001tsa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(2446-2448)TCT>TGT		cut-like 2							13.0	17.0	16.0					12																	111758260		1887	3936	5823	SO:0001583	missense	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758260C>G	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2447C>G	12.37:g.111758260C>G	ENSP00000261726:p.Ser816Cys						p.S816C	NM_015267	NP_056082	O14529	CUX2_HUMAN			17	2600	+			816					A7E2Y4	Missense_Mutation	SNP	ENST00000261726.6	37	c.2447C>G	CCDS41837.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927431	0.52759	.	.	ENSG00000111249	ENST00000261726	T	0.52295	0.67	4.25	4.25	0.50352	.	0.265926	0.37304	N	0.002160	T	0.60235	0.2253	L	0.60455	1.87	0.40118	D	0.976564	D	0.69078	0.997	P	0.56865	0.808	T	0.67776	-0.5583	10	0.72032	D	0.01	-16.2769	16.7229	0.85414	0.0:1.0:0.0:0.0	.	816	O14529	CUX2_HUMAN	C	816	ENSP00000261726:S816C	ENSP00000261726:S816C	S	+	2	0	CUX2	110242643	1.000000	0.71417	0.852000	0.33557	0.264000	0.26372	7.319000	0.79040	1.933000	0.56026	0.306000	0.20318	TCT		0.756	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		6	24	0	0	0	0.001168	0	6	24				
CUX2	23316	broad.mit.edu	37	12	111776136	111776136	+	Silent	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:111776136C>A	ENST00000261726.6	+	20	3397	c.3243C>A	c.(3241-3243)tcC>tcA	p.S1081S	RNA5SP373_ENST00000517271.1_RNA	NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1081					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.S1081S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CACAGGGCTCCGTGTCTGACC	0.622																																							uc001tsa.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|breast(1)	6						c.(3241-3243)TCC>TCA		cut-like 2							51.0	57.0	55.0					12																	111776136		1968	4158	6126	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111776136C>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.3243C>A	12.37:g.111776136C>A							p.S1081S	NM_015267	NP_056082	O14529	CUX2_HUMAN			20	3396	+			1081			CUT 3.		A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.3243C>A	CCDS41837.1																																																																																				0.622	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		6	62	1	0	0.00198382	0.001984	0.00211908	6	62				
NAA25	80018	broad.mit.edu	37	12	112528570	112528570	+	Silent	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:112528570T>A	ENST00000261745.4	-	3	491	c.243A>T	c.(241-243)tcA>tcT	p.S81S		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	81						cytoplasm (GO:0005737)		p.S81S(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GTGCCTGCAGTGAGTTGTCAT	0.428																																							uc001ttm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(241-243)TCA>TCT		mitochondrial distribution and morphology 20							163.0	144.0	151.0					12																	112528570		2203	4300	6503	SO:0001819	synonymous_variant	80018					cytoplasm	protein binding	g.chr12:112528570T>A	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.243A>T	12.37:g.112528570T>A						NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Silent_p.S53S|NAA25_uc009zwa.1_Silent_p.S81S	p.S81S	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN			3	263	-			81			TPR 3.		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Silent	SNP	ENST00000261745.4	37	c.243A>T	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	10.17	1.276587	0.23307	.	.	ENSG00000111300	ENST00000547133	.	.	.	5.51	-9.74	0.00509	.	.	.	.	.	T	0.30916	0.0780	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44421	-0.9329	4	.	.	.	-8.2296	0.1158	0.00060	0.2937:0.1721:0.1964:0.3377	.	.	.	.	S	43	.	.	T	-	1	0	NAA25	111012953	0.000000	0.05858	0.344000	0.25628	0.995000	0.86356	-2.205000	0.01232	-1.272000	0.02427	0.528000	0.53228	ACT		0.428	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	NM_024953		11	125	0	0	0	0.001368	0	11	125				
RBM19	9904	broad.mit.edu	37	12	114377779	114377779	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:114377779G>C	ENST00000545145.2	-	15	2002	c.1924C>G	c.(1924-1926)Ctg>Gtg	p.L642V	RBM19_ENST00000392561.3_Missense_Mutation_p.L642V|RP11-780K2.1_ENST00000550206.1_RNA|RBM19_ENST00000261741.5_Missense_Mutation_p.L642V	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	642	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L642V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAATAGGCCAGATGCCTGAAG	0.612																																							uc009zwi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(1924-1926)CTG>GTG		RNA binding motif protein 19							46.0	50.0	49.0					12																	114377779		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114377779G>C	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1924C>G	12.37:g.114377779G>C	ENSP00000442053:p.Leu642Val					RBM19_uc001tvn.3_Missense_Mutation_p.L642V|RBM19_uc001tvm.2_Missense_Mutation_p.L642V	p.L642V	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			15	2068	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		642			RRM 4.		A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1924C>G	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380717	0.61845	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.08896	3.04;3.04;3.04	4.3	3.36	0.38483	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.081080	0.51477	D	0.000082	T	0.23611	0.0571	M	0.87900	2.915	0.58432	D	0.999999	B	0.31125	0.309	B	0.44044	0.439	T	0.09314	-1.0680	10	0.51188	T	0.08	-7.3267	14.0567	0.64774	0.0:0.1513:0.8486:0.0	.	642	Q9Y4C8	RBM19_HUMAN	V	642	ENSP00000442053:L642V;ENSP00000376344:L642V;ENSP00000261741:L642V	ENSP00000261741:L642V	L	-	1	2	RBM19	112862162	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	7.124000	0.77185	1.964000	0.57103	0.561000	0.74099	CTG		0.612	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		7	52	0	0	0	0.004482	0	7	52				
CLIP1	6249	broad.mit.edu	37	12	122862308	122862308	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr12:122862308G>A	ENST00000540338.1	-	2	326	c.285C>T	c.(283-285)ccC>ccT	p.P95P	CLIP1_ENST00000361654.4_Silent_p.P95P|CLIP1_ENST00000537178.1_Silent_p.P95P|CLIP1_ENST00000358808.2_Silent_p.P95P|CLIP1_ENST00000302528.7_Silent_p.P95P			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	95	CAP-Gly 1. {ECO:0000255|PROSITE- ProRule:PRU00045}.				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)	p.P95P(1)		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)		TCTTGCCTATGGGTTCATCTA	0.463																																							uc001ucg.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(283-285)CCC>CCT		restin isoform a							105.0	104.0	104.0					12																	122862308		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.chr12:122862308G>A		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.285C>T	12.37:g.122862308G>A						CLIP1_uc001uch.1_Silent_p.P95P|CLIP1_uc001uci.1_Silent_p.P95P|CLIP1_uc010tae.1_Silent_p.P95P	p.P95P	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)	2	391	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		95			CAP-Gly 1.		A0AVD3|Q17RS4|Q29RG0	Silent	SNP	ENST00000540338.1	37	c.285C>T	CCDS58285.1																																																																																				0.463	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		10	141	0	0	0	0.008291	0	10	141				
POSTN	10631	broad.mit.edu	37	13	38145512	38145512	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr13:38145512G>T	ENST00000379747.4	-	18	2290	c.2173C>A	c.(2173-2175)Cat>Aat	p.H725N	POSTN_ENST00000541481.1_Intron|POSTN_ENST00000541179.1_Missense_Mutation_p.H698N|POSTN_ENST00000379749.4_Missense_Mutation_p.H725N|POSTN_ENST00000379742.4_Intron|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000379743.4_Missense_Mutation_p.H698N	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	725					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)	p.H725N(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GCACCTCCATGGATCACTTCA	0.378																																							uc001uwo.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2173-2175)CAT>AAT		periostin, osteoblast specific factor isoform 1							214.0	180.0	192.0					13																	38145512		2203	4299	6502	SO:0001583	missense	10631				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	g.chr13:38145512G>T	D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.2173C>A	13.37:g.38145512G>T	ENSP00000369071:p.His725Asn					POSTN_uc010tet.1_Missense_Mutation_p.H226N|POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Missense_Mutation_p.H698N|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Missense_Mutation_p.H698N|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron	p.H725N	NM_006475	NP_006466	Q15063	POSTN_HUMAN		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)	18	2291	-		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)	725					B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	ENST00000379747.4	37	c.2173C>A	CCDS9364.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240278	0.79912	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743	D;D;D;D	0.91180	-2.76;-2.75;-2.74;-2.8	5.49	5.49	0.81192	.	0.400858	0.30043	N	0.010558	D	0.94535	0.8240	L	0.56769	1.78	0.80722	D	1	P;D;P	0.67145	0.756;0.996;0.629	B;D;B	0.75484	0.351;0.986;0.351	D	0.94282	0.7521	10	0.59425	D	0.04	.	19.7341	0.96195	0.0:0.0:1.0:0.0	.	698;698;725	B1ALD8;Q15063-3;Q15063	.;.;POSTN_HUMAN	N	698;725;725;698	ENSP00000437959:H698N;ENSP00000369073:H725N;ENSP00000369071:H725N;ENSP00000369067:H698N	ENSP00000369067:H698N	H	-	1	0	POSTN	37043512	1.000000	0.71417	0.976000	0.42696	0.931000	0.56810	6.561000	0.73955	2.732000	0.93576	0.585000	0.79938	CAT		0.378	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044566.2	NM_006475		17	60	1	0	1.02788e-11	0.00499	1.39357e-11	17	60				
CTAGE10P	220429	broad.mit.edu	37	13	50466975	50466975	+	IGR	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr13:50466975G>C								RNY4P30 (3111 upstream) : RNY4P9 (15794 downstream)																							TTTGCAATGAGAAATGTCTGT	0.517																																							uc001vdk.2		NA																	0					0						c.(2248-2250)AGA>ACA		Homo sapiens CTAGE family, member 5 pseudogene, mRNA (cDNA clone IMAGE:5270026).																																				SO:0001628	intergenic_variant	220429							g.chr13:50466975G>C																													13.37:g.50466975G>C							p.R750T	NR_003268						1	2431	+									Missense_Mutation	SNP		37	c.2249G>C																																																																																				0	0.517									4	57	0	0	0	0.009096	0	4	57				
ATP7B	540	broad.mit.edu	37	13	52539113	52539113	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr13:52539113C>A	ENST00000242839.4	-	5	1920	c.1764G>T	c.(1762-1764)agG>agT	p.R588S	ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.R588S|ATP7B_ENST00000344297.5_Missense_Mutation_p.R588S|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.R588S|ATP7B_ENST00000400366.3_Missense_Mutation_p.R477S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	588	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)	p.R588S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	TGCCATTTGTCCTCGTGAGTT	0.498									Wilson disease																														uc001vfw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1762-1764)AGG>AGT		ATPase, Cu++ transporting, beta polypeptide							100.0	103.0	102.0					13																	52539113		2049	4205	6254	SO:0001583	missense	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52539113C>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1764G>T	13.37:g.52539113C>A	ENSP00000242839:p.Arg588Ser					ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Missense_Mutation_p.R588S|ATP7B_uc001vfy.2_Missense_Mutation_p.R477S|ATP7B_uc010tgt.1_Missense_Mutation_p.R588S|ATP7B_uc010tgu.1_Missense_Mutation_p.R588S|ATP7B_uc010tgv.1_Missense_Mutation_p.R588S|ATP7B_uc010tgw.1_Intron	p.R588S	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	5	1921	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	588			HMA 6.|Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.1764G>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338255	0.41398	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000448424;ENST00000418097	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	5.95	2.93	0.34026	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);Heavy-metal-associated, conserved site (1);	0.226724	0.52532	D	0.000080	T	0.71065	0.3296	N	0.20445	0.575	0.09310	N	0.999998	B;B;B;B;P;B	0.34757	0.081;0.038;0.156;0.153;0.467;0.043	B;B;B;B;B;B	0.37692	0.023;0.035;0.105;0.105;0.256;0.024	T	0.59958	-0.7356	10	0.35671	T	0.21	-21.733	2.725	0.05211	0.2049:0.3655:0.0:0.4296	.	588;588;588;477;588;588	E7ET55;B7ZLR4;F5H748;P35670-3;P35670-2;P35670	.;.;.;.;.;ATP7B_HUMAN	S	588;477;588;588;588	ENSP00000242839:R588S;ENSP00000383217:R477S;ENSP00000342559:R588S;ENSP00000416738:R588S;ENSP00000393343:R588S	ENSP00000242839:R588S	R	-	3	2	ATP7B	51437114	0.624000	0.27102	0.344000	0.25628	0.922000	0.55478	0.368000	0.20399	0.863000	0.35553	0.655000	0.94253	AGG		0.498	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		20	69	1	0	1.33834e-09	0.007413	1.7636e-09	20	69				
PCDH9	5101	broad.mit.edu	37	13	67802360	67802360	+	Silent	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr13:67802360C>A	ENST00000377865.2	-	1	347	c.213G>T	c.(211-213)ggG>ggT	p.G71G	PCDH9_ENST00000544246.1_Silent_p.G71G|PCDH9_ENST00000328454.5_Silent_p.G71G|PCDH9_ENST00000377861.3_Silent_p.G71G|PCDH9_ENST00000456367.1_Silent_p.G71G			Q9HC56	PCDH9_HUMAN	protocadherin 9	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G71G(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AAGGGGCATCCCCAGCTTTAG	0.488																																							uc001vik.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(211-213)GGG>GGT		protocadherin 9 isoform 1 precursor							67.0	65.0	66.0					13																	67802360		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802360C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.213G>T	13.37:g.67802360C>A						PCDH9_uc001vil.2_Silent_p.G71G|PCDH9_uc010thl.1_Silent_p.G71G|PCDH9_uc001vin.3_Silent_p.G71G	p.G71G	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	905	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	71			Extracellular (Potential).|Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.213G>T	CCDS9444.1																																																																																				0.488	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		11	53	1	0	4.68919e-08	0.008291	5.9387e-08	11	53				
COL4A2	1284	broad.mit.edu	37	13	111118389	111118389	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr13:111118389G>A	ENST00000360467.5	+	26	2324	c.2018G>A	c.(2017-2019)aGa>aAa	p.R673K	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	673	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.R673K(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGGTGACAGACAGGAGGCC	0.498																																							uc001vqx.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(2017-2019)AGA>AAA		alpha 2 type IV collagen preproprotein							132.0	135.0	134.0					13																	111118389		1981	4167	6148	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111118389G>A	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2018G>A	13.37:g.111118389G>A	ENSP00000353654:p.Arg673Lys						p.R673K	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		26	2307	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	673			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2018G>A	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	0.224	-1.026192	0.02045	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.90504	-2.68	4.67	3.81	0.43845	.	0.731230	0.11310	U	0.577234	T	0.78502	0.4293	N	0.12182	0.205	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.61959	-0.6955	10	0.06236	T	0.91	.	8.2679	0.31827	0.1145:0.0:0.8855:0.0	.	673	P08572	CO4A2_HUMAN	K	673	ENSP00000353654:R673K	ENSP00000257309:R673K	R	+	2	0	COL4A2	109916390	0.298000	0.24417	0.033000	0.17914	0.371000	0.29859	1.637000	0.37155	1.063000	0.40649	0.467000	0.42956	AGA		0.498	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		7	53	0	0	0	0.004482	0	7	53				
TUBGCP3	10426	broad.mit.edu	37	13	113176788	113176788	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr13:113176788G>A	ENST00000261965.3	-	14	1777	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.Q531*|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	531					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q531*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	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)					ATCTTCCCCTGAAATGCATTT	0.423																																							uc001vse.1		NA																	1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1591-1593)CAG>TAG		tubulin, gamma complex associated protein 3							107.0	94.0	98.0					13																	113176788		2203	4300	6503	SO:0001587	stop_gained	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113176788G>A	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1591C>T	13.37:g.113176788G>A	ENSP00000261965:p.Gln531*					TUBGCP3_uc010tjq.1_Nonsense_Mutation_p.Q521*|TUBGCP3_uc001vsf.2_Nonsense_Mutation_p.Q531*	p.Q531*	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			14	1778	-	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)		531					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Nonsense_Mutation	SNP	ENST00000261965.3	37	c.1591C>T	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	G	38	7.028724	0.98013	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	.	.	.	5.63	4.79	0.61399	.	0.113540	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-19.4788	14.669	0.68929	0.0697:0.0:0.9303:0.0	.	.	.	.	X	531	.	ENSP00000261965:Q531X	Q	-	1	0	TUBGCP3	112224789	1.000000	0.71417	0.990000	0.47175	0.806000	0.45545	8.981000	0.93465	1.408000	0.46895	0.558000	0.71614	CAG		0.423	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322		7	74	0	0	0	0.00308	0	7	74				
OR4Q3	441669	broad.mit.edu	37	14	20215671	20215671	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:20215671T>A	ENST00000331723.1	+	1	85	c.85T>A	c.(85-87)Tta>Ata	p.L29I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L29I(1)		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)		ATTTCTCTTCTTACTATTTTT	0.383																																							uc010tkt.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(85-87)TTA>ATA		olfactory receptor, family 4, subfamily Q,							163.0	166.0	165.0					14																	20215671		2203	4300	6503	SO:0001583	missense	441669				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20215671T>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.85T>A	14.37:g.20215671T>A	ENSP00000330049:p.Leu29Ile						p.L29I	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	85	+	all_cancers(95;0.00108)		29			Helical; Name=1; (Potential).		Q6IEX4	Missense_Mutation	SNP	ENST00000331723.1	37	c.85T>A	CCDS32020.1	.	.	.	.	.	.	.	.	.	.	.	8.629	0.893137	0.17613	.	.	ENSG00000182652	ENST00000331723	T	0.00272	8.36	4.32	1.96	0.26148	.	0.528489	0.13808	U	0.361328	T	0.00144	0.0004	N	0.16130	0.375	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.20505	-1.0273	10	0.41790	T	0.15	.	5.9826	0.19415	0.0:0.3219:0.0:0.6781	.	29	Q8NH05	OR4Q3_HUMAN	I	29	ENSP00000330049:L29I	ENSP00000330049:L29I	L	+	1	2	OR4Q3	19285511	0.000000	0.05858	0.349000	0.25694	0.761000	0.43186	-0.690000	0.05138	0.231000	0.21079	0.416000	0.27883	TTA		0.383	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2			30	275	0	0	0	0.012213	0	30	275				
SLC7A7	9056	broad.mit.edu	37	14	23243287	23243287	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:23243287G>A	ENST00000397532.3	-	9	1809	c.1284C>T	c.(1282-1284)acC>acT	p.T428T	SLC7A7_ENST00000554517.1_Silent_p.T162T|SLC7A7_ENST00000285850.7_Silent_p.T428T|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.T428T|SLC7A7_ENST00000555702.1_Silent_p.T428T|SLC7A7_ENST00000397529.2_Silent_p.T428T			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	428					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)	p.T428T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CCAGGAAGATGGTGCAGAGGC	0.478																																							uc001wgr.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1282-1284)ACC>ACT		solute carrier family 7 member 7							133.0	130.0	131.0					14																	23243287		2203	4300	6503	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23243287G>A	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1284C>T	14.37:g.23243287G>A						SLC7A7_uc001wgs.3_Silent_p.T428T|SLC7A7_uc001wgt.3_Silent_p.T428T|SLC7A7_uc001wgu.3_Silent_p.T428T|SLC7A7_uc001wgv.3_Silent_p.T428T	p.T428T	NM_003982	NP_003973	Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	9	1422	-	all_cancers(95;8.44e-05)		428			Helical; (Potential).		B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.1284C>T	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	G	10.27	1.303867	0.23736	.	.	ENSG00000155465	ENST00000556350	.	.	.	6.13	4.32	0.51571	.	.	.	.	.	T	0.59905	0.2228	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56147	-0.8027	4	.	.	.	.	9.6375	0.39819	0.2141:0.0:0.7859:0.0	.	.	.	.	L	93	.	.	P	-	2	0	SLC7A7	22313127	0.170000	0.23016	0.998000	0.56505	0.999000	0.98932	0.453000	0.21811	0.944000	0.37579	0.650000	0.86243	CCA		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			11	50	0	0	0	0.008291	0	11	50				
NYNRIN	57523	broad.mit.edu	37	14	24878023	24878023	+	Silent	SNP	G	G	T	rs542214998		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:24878023G>T	ENST00000382554.3	+	4	1341	c.1023G>T	c.(1021-1023)ctG>ctT	p.L341L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	341					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.L341L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TATCAGCCCTGGGTGTGTGCC	0.582																																							uc001wpf.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1021-1023)CTG>CTT		hypothetical protein LOC57523							40.0	43.0	42.0					14																	24878023		1977	4171	6148	SO:0001819	synonymous_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24878023G>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1023G>T	14.37:g.24878023G>T							p.L341L	NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN			4	1341	+			341					Q6P153|Q86TR3|Q9HAC4	Silent	SNP	ENST00000382554.3	37	c.1023G>T	CCDS45090.1																																																																																				0.582	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			6	31	1	0	2.0095e-06	0.001984	2.38769e-06	6	31				
LRFN5	145581	broad.mit.edu	37	14	42360646	42360646	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:42360646G>T	ENST00000298119.4	+	4	2768	c.1579G>T	c.(1579-1581)Ggc>Tgc	p.G527C	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	527						integral component of membrane (GO:0016021)		p.G527C(1)		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)		GTTTTTGGGAGGCACCATGAT	0.428										HNSCC(30;0.082)																													uc001wvm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(1579-1581)GGC>TGC		leucine rich repeat and fibronectin type III							223.0	213.0	217.0					14																	42360646		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42360646G>T	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.1579G>T	14.37:g.42360646G>T	ENSP00000298119:p.Gly527Cys	HNSCC(30;0.082)				LRFN5_uc010ana.2_Intron	p.G527C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	4	2777	+			527			Extracellular (Potential).		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.1579G>T	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126360	0.77549	.	.	ENSG00000165379	ENST00000298119	T	0.60548	0.18	5.87	5.87	0.94306	.	0.000000	0.64402	D	0.000020	T	0.77658	0.4163	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79371	-0.1831	10	0.87932	D	0	.	17.6929	0.88273	0.0:0.0:1.0:0.0	.	527	Q96NI6	LRFN5_HUMAN	C	527	ENSP00000298119:G527C	ENSP00000298119:G527C	G	+	1	0	LRFN5	41430396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.775000	0.95449	0.650000	0.86243	GGC		0.428	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		10	218	1	0	2.68362e-12	0.001368	3.67369e-12	10	218				
FANCM	57697	broad.mit.edu	37	14	45644916	45644916	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:45644916C>T	ENST00000267430.5	+	14	3044	c.2959C>T	c.(2959-2961)Cta>Tta	p.L987L	FANCM_ENST00000542564.2_Silent_p.L961L	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	987					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)	p.L987L(1)		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						AAAAGAGGTACTAGCTAATGT	0.348								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc001wwd.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(2959-2961)CTA>TTA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							59.0	63.0	61.0					14																	45644916		2202	4299	6501	SO:0001819	synonymous_variant	57697	FanconAnemia	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.chr14:45644916C>T	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.2959C>T	14.37:g.45644916C>T						FANCM_uc010anf.2_Silent_p.L961L|FANCM_uc001wwe.3_Silent_p.L523L|FANCM_uc010ang.2_Silent_p.L201L	p.L987L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			14	3058	+			987					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Silent	SNP	ENST00000267430.5	37	c.2959C>T	CCDS32070.1																																																																																				0.348	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		9	85	0	0	0	0.008291	0	9	85				
KTN1	3895	broad.mit.edu	37	14	56085908	56085908	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:56085908G>A	ENST00000395314.3	+	5	909	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	KTN1_ENST00000395309.3_Missense_Mutation_p.E281K|KTN1_ENST00000395308.1_Missense_Mutation_p.E281K|KTN1_ENST00000416613.1_Missense_Mutation_p.E281K|KTN1_ENST00000395311.1_Missense_Mutation_p.E281K|KTN1_ENST00000413890.2_Missense_Mutation_p.E281K|KTN1_ENST00000438792.2_Missense_Mutation_p.E281K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	281					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.E281K(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGAAAATGCTGAAGTGAAGTT	0.338			T	RET	papillary thryoid																																		uc001xcb.2		NA		Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(841-843)GAA>AAA		kinectin 1 isoform a							115.0	110.0	111.0					14																	56085908		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56085908G>A		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.841G>A	14.37:g.56085908G>A	ENSP00000378725:p.Glu281Lys					KTN1_uc001xce.2_Missense_Mutation_p.E281K|KTN1_uc001xcc.2_Missense_Mutation_p.E281K|KTN1_uc001xcd.2_Missense_Mutation_p.E281K|KTN1_uc010trb.1_Missense_Mutation_p.E281K|KTN1_uc001xcf.1_Missense_Mutation_p.E281K	p.E281K	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			6	1143	+			281			Lumenal (Potential).		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.841G>A	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654709	0.88056	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	T;T;T;T;T;T;T	0.58506	0.33;0.33;0.33;0.33;0.33;0.33;0.33	4.47	4.47	0.54385	.	0.000000	0.56097	D	0.000039	T	0.72755	0.3500	M	0.61703	1.905	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.997;0.996;0.999;0.997	T	0.70048	-0.4979	10	0.30078	T	0.28	-4.0603	17.6688	0.88210	0.0:0.0:1.0:0.0	.	281;281;281;281	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	K	281	ENSP00000394992:E281K;ENSP00000378720:E281K;ENSP00000391964:E281K;ENSP00000378725:E281K;ENSP00000378719:E281K;ENSP00000378722:E281K;ENSP00000388807:E281K	ENSP00000378719:E281K	E	+	1	0	KTN1	55155661	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.299000	0.78831	2.492000	0.84095	0.585000	0.79938	GAA		0.338	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			12	70	0	0	0	0.010729	0	12	70				
PELI2	57161	broad.mit.edu	37	14	56746482	56746482	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:56746482C>T	ENST00000267460.4	+	3	582	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	99	FHA; atypical.				innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.T99M(1)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GATAAGGATACGGATATGTTT	0.333																																							uc001xch.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(295-297)ACG>ATG		pellino 2							138.0	137.0	137.0					14																	56746482		2203	4300	6503	SO:0001583	missense	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56746482C>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.296C>T	14.37:g.56746482C>T	ENSP00000267460:p.Thr99Met						p.T99M	NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN			3	582	+			99					B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	c.296C>T	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.580867	0.65992	.	.	ENSG00000139946	ENST00000267460	T	0.49139	0.79	4.84	3.02	0.34903	.	0.194336	0.53938	D	0.000053	T	0.44414	0.1292	M	0.75447	2.3	0.54753	D	0.999988	P	0.41498	0.752	B	0.35182	0.197	T	0.47886	-0.9082	10	0.51188	T	0.08	-18.8398	11.2078	0.48780	0.0:0.8508:0.0:0.1492	.	99	Q9HAT8	PELI2_HUMAN	M	99	ENSP00000267460:T99M	ENSP00000267460:T99M	T	+	2	0	PELI2	55816235	1.000000	0.71417	0.991000	0.47740	0.946000	0.59487	4.779000	0.62375	0.757000	0.33036	-0.259000	0.10710	ACG		0.333	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			15	126	0	0	0	0.004007	0	15	126				
EXD2	55218	broad.mit.edu	37	14	69695691	69695691	+	Silent	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:69695691T>A	ENST00000409018.3	+	3	620	c.492T>A	c.(490-492)gtT>gtA	p.V164V	EXD2_ENST00000312994.5_Silent_p.V164V|EXD2_ENST00000409675.1_Silent_p.V39V|EXD2_ENST00000409014.1_Silent_p.V39V|EXD2_ENST00000409242.1_Silent_p.V39V|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Silent_p.V39V|EXD2_ENST00000409949.1_Silent_p.V39V	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	164	3'-5' exonuclease.						3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)	p.V39V(1)|p.V164V(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TTTTGAAAGTTGGAGTGGGAT	0.512																																							uc001xkt.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(115-117)GTT>GTA		exonuclease 3'-5' domain containing 2							154.0	151.0	152.0					14																	69695691		2203	4300	6503	SO:0001819	synonymous_variant	55218				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr14:69695691T>A	AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.492T>A	14.37:g.69695691T>A						EXD2_uc001xku.2_5'UTR|EXD2_uc001xkv.2_Silent_p.V164V|EXD2_uc001xkw.2_Silent_p.V39V|EXD2_uc001xkx.2_RNA|EXD2_uc010aqt.2_Silent_p.V164V|EXD2_uc010tte.1_Silent_p.V164V|EXD2_uc001xky.2_Silent_p.V39V	p.V39V	NM_018199	NP_060669	Q9NVH0	EXD2_HUMAN			5	776	+			39			3'-5' exonuclease.		B4DIH6|G5E947|Q6AWB6|Q8N3D3	Silent	SNP	ENST00000409018.3	37	c.117T>A	CCDS53902.1																																																																																				0.512	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1			10	74	0	0	0	0.006214	0	10	74				
EIF2B2	8892	broad.mit.edu	37	14	75469779	75469779	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:75469779G>A	ENST00000266126.5	+	1	166	c.86G>A	c.(85-87)cGc>cAc	p.R29H	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	29					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.R29H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GGTGGGCCGCGCAGCTCCGAG	0.662																																							uc001xrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(85-87)CGC>CAC		eukaryotic translation initiation factor 2B,							39.0	42.0	41.0					14																	75469779		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75469779G>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.86G>A	14.37:g.75469779G>A	ENSP00000266126:p.Arg29His						p.R29H	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	1	168	+			29					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.86G>A	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.930028	0.52759	.	.	ENSG00000119718	ENST00000266126	D	0.93488	-3.23	5.86	3.04	0.35103	.	0.269660	0.43579	D	0.000559	D	0.85168	0.5635	N	0.21097	0.63	0.44562	D	0.997528	B	0.14012	0.009	B	0.12156	0.007	T	0.74853	-0.3523	10	0.31617	T	0.26	-8.6143	5.6706	0.17721	0.0888:0.206:0.6036:0.1017	.	29	P49770	EI2BB_HUMAN	H	29	ENSP00000266126:R29H	ENSP00000266126:R29H	R	+	2	0	EIF2B2	74539532	1.000000	0.71417	0.998000	0.56505	0.808000	0.45660	2.361000	0.44160	0.473000	0.27368	0.650000	0.86243	CGC		0.662	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		7	51	0	0	0	0.001984	0	7	51				
EIF2B2	8892	broad.mit.edu	37	14	75474434	75474434	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:75474434G>A	ENST00000266126.5	+	7	921	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	281					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.E281K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		GTTCCCCAATGAAGAAGACTC	0.403																																							uc001xrc.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)GAA>AAA		eukaryotic translation initiation factor 2B,							89.0	84.0	86.0					14																	75474434		2203	4300	6503	SO:0001583	missense	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75474434G>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.841G>A	14.37:g.75474434G>A	ENSP00000266126:p.Glu281Lys						p.E281K	NM_014239	NP_055054	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	7	923	+			281					O43201	Missense_Mutation	SNP	ENST00000266126.5	37	c.841G>A	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784278	0.70222	.	.	ENSG00000119718	ENST00000266126	D	0.95853	-3.83	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.94192	0.8136	L	0.32530	0.975	0.80722	D	1	B	0.25048	0.117	B	0.39590	0.304	D	0.92552	0.6051	10	0.54805	T	0.06	-3.6087	17.9923	0.89172	0.0:0.0:1.0:0.0	.	281	P49770	EI2BB_HUMAN	K	281	ENSP00000266126:E281K	ENSP00000266126:E281K	E	+	1	0	EIF2B2	74544187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.897000	0.92532	2.478000	0.83669	0.555000	0.69702	GAA		0.403	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		6	66	0	0	0	0.00308	0	6	66				
AHNAK2	113146	broad.mit.edu	37	14	105416366	105416366	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr14:105416366C>T	ENST00000333244.5	-	7	5541	c.5422G>A	c.(5422-5424)Gac>Aac	p.D1808N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1808						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D1808Y(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGGACAGGTCACCCTCCAGC	0.627																																							uc010axc.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(5422-5424)GAC>AAC		AHNAK nucleoprotein 2							137.0	167.0	157.0					14																	105416366		2001	4143	6144	SO:0001583	missense	113146					nucleus		g.chr14:105416366C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5422G>A	14.37:g.105416366C>T	ENSP00000353114:p.Asp1808Asn					AHNAK2_uc001ypx.2_Missense_Mutation_p.D1708N	p.D1808N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5542	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1808					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5422G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	20.6	4.024972	0.75390	.	.	ENSG00000185567	ENST00000333244	T	0.01265	5.08	4.52	3.62	0.41486	.	.	.	.	.	T	0.04634	0.0126	M	0.85197	2.74	0.21841	N	0.999517	D	0.53619	0.961	P	0.51324	0.666	T	0.30880	-0.9963	9	0.34782	T	0.22	.	6.2627	0.20910	0.185:0.7171:0.0:0.0979	.	1808	Q8IVF2	AHNK2_HUMAN	N	1808	ENSP00000353114:D1808N	ENSP00000353114:D1808N	D	-	1	0	AHNAK2	104487411	.	.	0.206000	0.23566	0.101000	0.19017	.	.	2.087000	0.62958	0.456000	0.33151	GAC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		18	228	0	0	0	0.007413	0	18	228				
NPAP1	23742	broad.mit.edu	37	15	24923219	24923219	+	Silent	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:24923219C>A	ENST00000329468.2	+	1	2679	c.2205C>A	c.(2203-2205)ccC>ccA	p.P735P		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	735					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.P735P(1)									ACACACAACCCAGCGGCAACA	0.552																																							uc001ywo.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2203-2205)CCC>CCA		hypothetical protein LOC23742							106.0	108.0	107.0					15																	24923219		2203	4300	6503	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923219C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2205C>A	15.37:g.24923219C>A							p.P735P	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2679	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	735						Silent	SNP	ENST00000329468.2	37	c.2205C>A	CCDS10015.1																																																																																				0.552	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		15	109	1	0	7.93312e-07	0.00245	9.58774e-07	15	109				
OCA2	4948	broad.mit.edu	37	15	28211876	28211876	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:28211876C>A	ENST00000354638.3	-	15	1751	c.1596G>T	c.(1594-1596)tgG>tgT	p.W532C	OCA2_ENST00000382996.2_Missense_Mutation_p.W532C|OCA2_ENST00000353809.5_Missense_Mutation_p.W508C	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	532					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.W532C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTTTCTGTTCCAGTAAAGGA	0.443									Oculocutaneous Albinism																														uc001zbh.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1594-1596)TGG>TGT		oculocutaneous albinism II							108.0	93.0	98.0					15																	28211876		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28211876C>A		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1596G>T	15.37:g.28211876C>A	ENSP00000346659:p.Trp532Cys					OCA2_uc010ayv.2_Missense_Mutation_p.W508C	p.W532C	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	15	1706	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	532			Cytoplasmic (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1596G>T	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617997	0.46736	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.91792	-2.91;-2.91;-2.91	5.18	4.21	0.49690	Divalent ion symporter (1);	0.058350	0.64402	D	0.000001	D	0.88440	0.6437	L	0.39898	1.24	0.80722	D	1	B;B	0.14012	0.004;0.009	B;B	0.21151	0.012;0.033	D	0.86122	0.1569	10	0.66056	D	0.02	-12.7531	14.1746	0.65532	0.0:0.8489:0.1511:0.0	.	508;532	Q04671-2;Q04671	.;P_HUMAN	C	532;508;532	ENSP00000346659:W532C;ENSP00000261276:W508C;ENSP00000372457:W532C	ENSP00000261276:W508C	W	-	3	0	OCA2	25885471	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.229000	0.65316	2.563000	0.86464	0.650000	0.86243	TGG		0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		18	65	1	0	3.51602e-12	0.008871	4.79766e-12	18	65				
TRPM1	4308	broad.mit.edu	37	15	31324995	31324995	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:31324995C>A	ENST00000256552.6	-	22	2996	c.2849G>T	c.(2848-2850)cGg>cTg	p.R950L	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R928L|TRPM1_ENST00000542188.1_Missense_Mutation_p.R967L|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.R928L(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGATCACCCGGCCATAGCC	0.483																																							uc001zfm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(2782-2784)CGG>CTG		transient receptor potential cation channel,							149.0	143.0	145.0					15																	31324995		1957	4159	6116	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31324995C>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2849G>T	15.37:g.31324995C>A	ENSP00000256552:p.Arg950Leu					TRPM1_uc010azy.2_Missense_Mutation_p.R835L|TRPM1_uc001zfl.2_RNA	p.R928L	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	21	2911	-		all_lung(180;1.92e-11)	928			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.2783G>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122847	0.94429	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.73258	-0.73;-0.73;-0.73	5.73	5.73	0.89815	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.87708	0.6245	M	0.90650	3.135	0.58432	D	0.999999	D;D	0.76494	0.995;0.999	D;D	0.74023	0.914;0.982	D	0.89453	0.3731	10	0.87932	D	0	-20.4582	19.8985	0.96975	0.0:1.0:0.0:0.0	.	922;928	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	L	928;967;950;928	ENSP00000380897:R928L;ENSP00000437849:R967L;ENSP00000256552:R950L	ENSP00000256552:R950L	R	-	2	0	TRPM1	29112287	1.000000	0.71417	0.994000	0.49952	0.972000	0.66771	7.776000	0.85560	2.704000	0.92352	0.643000	0.83706	CGG		0.483	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		13	94	1	0	0.00010058	0.001368	0.000112852	13	94				
MEIS2	4212	broad.mit.edu	37	15	37242563	37242563	+	Silent	SNP	C	C	G	rs140793410		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:37242563C>G	ENST00000561208.1	-	9	1357	c.939G>C	c.(937-939)gcG>gcC	p.A313A	MEIS2_ENST00000559085.1_Silent_p.A300A|MEIS2_ENST00000397624.3_Silent_p.A225A|MEIS2_ENST00000340545.5_Silent_p.A300A|MEIS2_ENST00000397620.2_Silent_p.A225A|MEIS2_ENST00000338564.5_Silent_p.A313A|MEIS2_ENST00000382766.2_Silent_p.A313A|MEIS2_ENST00000444725.1_Silent_p.A313A|MEIS2_ENST00000559561.1_Silent_p.A313A|MEIS2_ENST00000424352.2_Silent_p.A313A|MEIS2_ENST00000219869.9_Silent_p.A167A|MEIS2_ENST00000557796.2_Silent_p.A300A			O14770	MEIS2_HUMAN	Meis homeobox 2	313					eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.A313A(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTGTGTCTTGCGCTAACTGTT	0.373																																							uc001zjr.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(937-939)GCG>GCC		Meis homeobox 2 isoform c							213.0	202.0	206.0					15																	37242563		2201	4297	6498	SO:0001819	synonymous_variant	4212				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr15:37242563C>G	AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.939G>C	15.37:g.37242563C>G						MEIS2_uc001zjl.2_Silent_p.A300A|MEIS2_uc010ucj.1_Silent_p.A300A|MEIS2_uc001zjm.2_Silent_p.A225A|MEIS2_uc001zjn.2_Silent_p.A167A|MEIS2_uc001zjo.2_Silent_p.A313A|MEIS2_uc001zjp.2_Silent_p.A313A|MEIS2_uc001zjs.2_Silent_p.A313A|MEIS2_uc001zju.2_Silent_p.A300A|MEIS2_uc001zjt.2_Silent_p.A313A	p.A313A	NM_170675	NP_733775	O14770	MEIS2_HUMAN		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)	9	1976	-		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)	313			Homeobox; TALE-type.		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Silent	SNP	ENST00000561208.1	37	c.939G>C	CCDS10044.1																																																																																				0.373	MEIS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252003.2	NM_170677		11	199	0	0	0	0.003163	0	11	199				
TRIM69	140691	broad.mit.edu	37	15	45028843	45028843	+	5'UTR	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:45028843C>A	ENST00000559390.1	+	0	869				TRIM69_ENST00000338264.4_5'UTR|TRIM69_ENST00000558329.1_5'UTR|TRIM69_ENST00000329464.4_5'UTR|TRIM69_ENST00000560442.1_5'UTR|TRIM69_ENST00000561043.1_5'UTR			Q86WT6	TRI69_HUMAN	tripartite motif containing 69						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TGCAGCCATCCTGGGCCTGCT	0.512																																					Pancreas(84;519 1450 1802 20427 34706)	Pancreas(84;519 1450 1802 20427 34706)	uc001zuf.2		NA																	0					0						c.(-61--57)TCCTG>TCATG		tripartite motif-containing 69 isoform a							71.0	70.0	71.0					15																	45028843		687	1589	2276	SO:0001623	5_prime_UTR_variant	140691				apoptosis	nuclear speck	zinc ion binding	g.chr15:45028843C>A	AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.-60C>A	15.37:g.45028843C>A						TRIM69_uc001zui.1_Translation_Start_Site|TRIM69_uc010bdy.1_Translation_Start_Site|TRIM69_uc001zug.1_Translation_Start_Site|TRIM69_uc001zuh.1_Translation_Start_Site		NM_182985	NP_892030	Q86WT6	TRI69_HUMAN		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)	2	836	+		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)						A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Translation_Start_Site	SNP	ENST00000559390.1	37	c.-59C>A	CCDS32220.1																																																																																				0.512	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416171.1			8	27	1	0	1.06961e-07	0.00308	1.35059e-07	8	27				
SEMA6D	80031	broad.mit.edu	37	15	48062801	48062801	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:48062801G>T	ENST00000316364.5	+	19	2480	c.2041G>T	c.(2041-2043)Gtg>Ttg	p.V681L	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V619L|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V638L|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V681L|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V606L|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V619L|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V662L|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000358066.4_Missense_Mutation_p.V619L|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V625L	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	681					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.V681L(1)|p.V619L(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CATTGCAGGTGTGGCAGTATA	0.473																																							uc010bek.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)|breast(1)	4						c.(2041-2043)GTG>TTG		semaphorin 6D isoform 4 precursor							138.0	133.0	135.0					15																	48062801		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48062801G>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2041G>T	15.37:g.48062801G>T	ENSP00000324857:p.Val681Leu					SEMA6D_uc001zvw.2_Missense_Mutation_p.V619L|SEMA6D_uc001zvy.2_Missense_Mutation_p.V681L|SEMA6D_uc001zvz.2_Missense_Mutation_p.V625L|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.V619L|SEMA6D_uc001zwc.2_Missense_Mutation_p.V606L	p.V681L	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2401	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	681			Helical; (Potential).		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2041G>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	G	2.437	-0.329444	0.05314	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8;1.8	6.01	6.01	0.97437	.	0.116837	0.64402	D	0.000017	T	0.09113	0.0225	N	0.00729	-1.24	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.10450	0.005;0.003;0.002;0.005	T	0.35773	-0.9775	10	0.02654	T	1	.	20.5141	0.99211	0.0:0.0:1.0:0.0	.	606;625;681;619	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	L	619;681;681;662;638;625;619;606	ENSP00000442040:V619L;ENSP00000446152:V681L;ENSP00000324857:V681L;ENSP00000374084:V662L;ENSP00000374083:V638L;ENSP00000346786:V625L;ENSP00000350770:V619L;ENSP00000374079:V606L	ENSP00000324857:V681L	V	+	1	0	SEMA6D	45850093	1.000000	0.71417	0.937000	0.37676	0.949000	0.60115	4.793000	0.62474	2.850000	0.98022	0.655000	0.94253	GTG		0.473	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		15	83	1	0	4.75885e-15	0.00499	6.70998e-15	15	83				
ATP8B4	79895	broad.mit.edu	37	15	50271905	50271905	+	Nonsense_Mutation	SNP	C	C	A	rs140655722		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:50271905C>A	ENST00000284509.6	-	12	1084	c.943G>T	c.(943-945)Gga>Tga	p.G315*	RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.G315*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	315						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)	p.G315*(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTTCTCTCCTTCATTCCAA	0.378																																							uc001zxu.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(943-945)GGA>TGA		ATPase class I type 8B member 4																																				SO:0001587	stop_gained	79895				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.chr15:50271905C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.943G>T	15.37:g.50271905C>A	ENSP00000284509:p.Gly315*					ATP8B4_uc010ber.2_Nonsense_Mutation_p.G188*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.G188*|ATP8B4_uc010ufe.1_RNA	p.G315*	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	12	1085	-		all_lung(180;0.00183)	315			Extracellular (Potential).		Q9H727	Nonsense_Mutation	SNP	ENST00000284509.6	37	c.943G>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732617	0.89482	.	.	ENSG00000104043	ENST00000284509	.	.	.	5.68	2.72	0.32119	.	1.027530	0.07696	N	0.939584	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	7.2555	0.26173	0.0:0.7023:0.1406:0.157	.	.	.	.	X	315	.	ENSP00000284509:G315X	G	-	1	0	ATP8B4	48059197	0.000000	0.05858	0.954000	0.39281	0.998000	0.95712	0.213000	0.17521	0.324000	0.23333	0.650000	0.86243	GGA		0.378	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		31	144	1	0	9.78485e-24	0.002836	1.41746e-23	31	144				
MNS1	55329	broad.mit.edu	37	15	56736859	56736859	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:56736859C>T	ENST00000260453.3	-	5	633	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	157	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.E157K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TTGGCTATTTCAGCATCACGT	0.313																																							uc002adr.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(469-471)GAA>AAA		meiosis-specific nuclear structural 1							256.0	246.0	249.0					15																	56736859		2192	4292	6484	SO:0001583	missense	55329				meiosis			g.chr15:56736859C>T	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.469G>A	15.37:g.56736859C>T	ENSP00000260453:p.Glu157Lys					MNS1_uc010bfo.2_Missense_Mutation_p.E25K|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	p.E157K	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	5	634	-			157			Potential.|Glu-rich.		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.469G>A	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.008430	0.75046	.	.	ENSG00000138587	ENST00000260453	T	0.10099	2.91	5.81	3.94	0.45596	.	0.434585	0.28493	N	0.015142	T	0.16727	0.0402	M	0.64404	1.975	0.40715	D	0.982601	P	0.39181	0.663	P	0.44477	0.451	T	0.02398	-1.1165	10	0.40728	T	0.16	-24.2281	11.3607	0.49642	0.0:0.8546:0.0:0.1454	.	157	Q8NEH6	MNS1_HUMAN	K	157	ENSP00000260453:E157K	ENSP00000260453:E157K	E	-	1	0	MNS1	54524151	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.308000	0.51896	1.466000	0.48025	-0.149000	0.13747	GAA		0.313	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		16	170	0	0	0	0.007413	0	16	170				
ZNF609	23060	broad.mit.edu	37	15	64967177	64967177	+	Silent	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:64967177C>A	ENST00000326648.3	+	4	2252	c.2124C>A	c.(2122-2124)ccC>ccA	p.P708P		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	708						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P708P(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCCAAGCCCACTGTTATGG	0.517																																							uc002ann.2		NA																	1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2122-2124)CCC>CCA		zinc finger protein 609							150.0	147.0	148.0					15																	64967177		2203	4299	6502	SO:0001819	synonymous_variant	23060					nucleus	zinc ion binding	g.chr15:64967177C>A	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2124C>A	15.37:g.64967177C>A							p.P708P	NM_015042	NP_055857	O15014	ZN609_HUMAN			4	2124	+			708					Q0D2I2	Silent	SNP	ENST00000326648.3	37	c.2124C>A	CCDS32270.1																																																																																				0.517	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		12	162	1	0	7.93312e-07	0.00245	9.58774e-07	12	162				
ZNF609	23060	broad.mit.edu	37	15	64967739	64967739	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:64967739G>C	ENST00000326648.3	+	4	2814	c.2686G>C	c.(2686-2688)Gag>Cag	p.E896Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	896						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E896Q(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAAGGCTTTGAGAGTTACTA	0.507																																							uc002ann.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(2686-2688)GAG>CAG		zinc finger protein 609							88.0	94.0	92.0					15																	64967739		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64967739G>C	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.2686G>C	15.37:g.64967739G>C	ENSP00000316527:p.Glu896Gln						p.E896Q	NM_015042	NP_055857	O15014	ZN609_HUMAN			4	2686	+			896					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.2686G>C	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753331	0.69648	.	.	ENSG00000180357	ENST00000326648	T	0.52526	0.66	5.95	5.95	0.96441	.	0.087001	0.85682	D	0.000000	T	0.56529	0.1991	L	0.44542	1.39	0.80722	D	1	D	0.56521	0.976	P	0.54140	0.743	T	0.48127	-0.9062	10	0.37606	T	0.19	-4.4917	20.3854	0.98941	0.0:0.0:1.0:0.0	.	896	O15014	ZN609_HUMAN	Q	896	ENSP00000316527:E896Q	ENSP00000316527:E896Q	E	+	1	0	ZNF609	62754792	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.062000	0.89475	2.825000	0.97269	0.655000	0.94253	GAG		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		9	102	0	0	0	0.004482	0	9	102				
IGDCC4	57722	broad.mit.edu	37	15	65684634	65684634	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:65684634G>A	ENST00000352385.2	-	11	2169	c.1960C>T	c.(1960-1962)Cac>Tac	p.H654Y		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	654	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H654Y(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGGTGGGGTGAGGGGGTGGC	0.637																																							uc002aou.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1960-1962)CAC>TAC		immunoglobulin superfamily, DCC subclass, member							31.0	34.0	33.0					15																	65684634		2201	4299	6500	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65684634G>A		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.1960C>T	15.37:g.65684634G>A	ENSP00000319623:p.His654Tyr					IGDCC4_uc002aot.1_Missense_Mutation_p.H242Y	p.H654Y	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			11	2170	-			654			Extracellular (Potential).|Fibronectin type-III 3.		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.1960C>T	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784784	0.70222	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.56776	0.44	5.39	3.34	0.38264	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.236961	0.41294	D	0.000916	T	0.50667	0.1629	L	0.46157	1.445	0.38997	D	0.959262	P	0.43542	0.81	P	0.48425	0.577	T	0.54748	-0.8247	10	0.59425	D	0.04	-11.9993	7.7379	0.28825	0.0:0.2452:0.4885:0.2663	.	654	Q8TDY8	IGDC4_HUMAN	Y	654;383	ENSP00000319623:H654Y	ENSP00000319623:H654Y	H	-	1	0	IGDCC4	63471687	1.000000	0.71417	0.890000	0.34922	0.970000	0.65996	4.285000	0.58989	1.239000	0.43787	0.655000	0.94253	CAC		0.637	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		7	34	0	0	0	0.001984	0	7	34				
ACAN	176	broad.mit.edu	37	15	89402294	89402294	+	Missense_Mutation	SNP	G	G	C	rs373460432		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:89402294G>C	ENST00000561243.1	+	11	6478	c.6478G>C	c.(6478-6480)Gag>Cag	p.E2160Q	ACAN_ENST00000352105.7_Missense_Mutation_p.E2160Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E2160Q|ACAN_ENST00000439576.2_Missense_Mutation_p.E2160Q			P16112	PGCA_HUMAN	aggrecan	2045	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)	p.E2046Q(2)		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)			TCAAGAAGGCGAGGCGTCCGC	0.577																																							uc010upo.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)	3						c.(6478-6480)GAG>CAG		aggrecan isoform 2 precursor							70.0	76.0	74.0					15																	89402294		2096	4218	6314	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89402294G>C	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.6478G>C	15.37:g.89402294G>C	ENSP00000453342:p.Glu2160Gln					ACAN_uc010upp.1_Missense_Mutation_p.E2160Q|ACAN_uc002bna.2_RNA	p.E2160Q	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		12	6852	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		2160					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.6478G>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	4.219	0.039493	0.08148	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.03181	4.17;4.02	4.91	2.02	0.26589	.	.	.	.	.	T	0.09598	0.0236	L	0.42686	1.345	0.09310	N	1	D;D	0.76494	0.999;0.997	D;D	0.67900	0.954;0.927	T	0.23762	-1.0179	9	0.44086	T	0.13	-13.9344	8.2512	0.31724	0.25:0.0:0.75:0.0	.	2160;2160	E7ENV9;E7EX88	.;.	Q	2160;2160;2046	ENSP00000387356:E2160Q;ENSP00000341615:E2160Q	ENSP00000268134:E2046Q	E	+	1	0	ACAN	87203298	1.000000	0.71417	0.023000	0.16930	0.032000	0.12392	4.001000	0.57046	0.146000	0.19002	-1.488000	0.00978	GAG		0.577	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		6	58	0	0	0	0.001168	0	6	58				
RGS11	8786	broad.mit.edu	37	16	321456	321456	+	Missense_Mutation	SNP	C	C	T	rs373018297		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:321456C>T	ENST00000397770.3	-	11	708	c.691G>A	c.(691-693)Gag>Aag	p.E231K	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Missense_Mutation_p.E220K|RGS11_ENST00000316163.5_Missense_Mutation_p.E210K			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	231	G protein gamma.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|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)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)	p.E231K(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTGAAGTACTCGATCTAGGAT	0.622																																							uc002cgj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(691-693)GAG>AAG		regulator of G-protein signalling 11 isoform 1		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	86.0	81.0	83.0		628,691	4.1	0.0	16		83	0,8600		0,0,4300	no	missense,missense	RGS11	NM_003834.1,NM_183337.1	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	210/447,231/468	321456	1,13005	2203	4300	6503	SO:0001583	missense	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321456C>T	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.691G>A	16.37:g.321456C>T	ENSP00000380876:p.Glu231Lys					RGS11_uc002cgi.1_Missense_Mutation_p.E210K|RGS11_uc010bqs.1_Missense_Mutation_p.E220K|RGS11_uc002cgk.1_Missense_Mutation_p.E47K	p.E231K	NM_183337	NP_899180	O94810	RGS11_HUMAN			11	694	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	231			G protein gamma.		O75883|Q4TT71|Q4TT72	Missense_Mutation	SNP	ENST00000397770.3	37	c.691G>A	CCDS42088.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873138	0.51695	2.27E-4	0.0	ENSG00000076344	ENST00000397770;ENST00000316163;ENST00000359740	T;T;T	0.35236	1.32;1.32;1.32	5.04	4.05	0.47172	G-protein gamma domain (4);	0.284792	0.32416	N	0.006135	T	0.50803	0.1637	M	0.82193	2.58	0.80722	D	1	D;D;D	0.63046	0.99;0.992;0.992	P;P;P	0.51999	0.559;0.687;0.687	T	0.54622	-0.8266	10	0.20046	T	0.44	-7.1041	14.2649	0.66110	0.0:0.8498:0.1502:0.0	.	220;231;231	O94810-2;Q4TT70;O94810	.;.;RGS11_HUMAN	K	231;210;220	ENSP00000380876:E231K;ENSP00000319069:E210K;ENSP00000352778:E220K	ENSP00000319069:E210K	E	-	1	0	RGS11	261457	0.910000	0.30920	0.028000	0.17463	0.016000	0.09150	2.241000	0.43097	1.054000	0.40438	0.455000	0.32223	GAG		0.622	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			5	34	0	0	0	0.000602	0	5	34				
CACNA1H	8912	broad.mit.edu	37	16	1270419	1270419	+	Missense_Mutation	SNP	G	G	A	rs370724421		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:1270419G>A	ENST00000348261.5	+	35	6735	c.6487G>A	c.(6487-6489)Ggg>Agg	p.G2163R	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G2157R|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G2157R	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2163					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.G2157R(1)|p.G2163R(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	GCTGGGCAGCGGGGAGCCTGG	0.716																																							uc002cks.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(6487-6489)GGG>AGG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)	G	ARG/GLY,ARG/GLY	1,3105		0,1,1552	10.0	12.0	12.0		6469,6487	3.6	0.0	16		12	0,7212		0,0,3606	no	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	125,125	0,1,5158	AA,AG,GG		0.0,0.0322,0.0097	probably-damaging,probably-damaging	2157/2348,2163/2354	1270419	1,10317	1553	3606	5159	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270419G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6487G>A	16.37:g.1270419G>A	ENSP00000334198:p.Gly2163Arg					CACNA1H_uc002ckt.2_Missense_Mutation_p.G2157R|CACNA1H_uc002cku.2_Missense_Mutation_p.G858R|CACNA1H_uc010brj.2_Missense_Mutation_p.G874R|CACNA1H_uc002ckv.2_Missense_Mutation_p.G852R	p.G2163R	NM_021098	NP_066921	O95180	CAC1H_HUMAN			35	6735	+		Hepatocellular(780;0.00369)	2163			Cytoplasmic (Potential).		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.6487G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172230	0.38315	3.22E-4	0.0	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96745	-4.11;-4.06	4.59	3.63	0.41609	.	8.702860	0.00357	N	0.000021	D	0.95114	0.8417	L	0.29908	0.895	0.09310	N	1	P;P;D;D;P	0.59357	0.878;0.663;0.963;0.985;0.878	B;B;P;P;B	0.49192	0.132;0.055;0.552;0.602;0.093	D	0.87664	0.2536	10	0.32370	T	0.25	.	11.4168	0.49956	0.0877:0.0:0.9123:0.0	.	909;887;893;2157;2163	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	R	2163;2157	ENSP00000334198:G2163R;ENSP00000351401:G2157R	ENSP00000334198:G2163R	G	+	1	0	CACNA1H	1210420	0.988000	0.35896	0.001000	0.08648	0.469000	0.32828	3.118000	0.50414	1.165000	0.42670	0.484000	0.47621	GGG		0.716	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		5	25	0	0	0	0.000602	0	5	25				
SPSB3	90864	broad.mit.edu	37	16	1828177	1828177	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:1828177G>A	ENST00000566339.1	-	4	780	c.450C>T	c.(448-450)ttC>ttT	p.F150F	SPSB3_ENST00000301717.4_Silent_p.F150F	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	150	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.F150L(1)|p.F150F(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TGATCTCCCAGAAGTGCTGGC	0.637																																							uc002cmr.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(448-450)TTC>TTT		splA/ryanodine receptor domain and SOCS box							43.0	43.0	43.0					16																	1828177		2198	4298	6496	SO:0001819	synonymous_variant	90864				intracellular signal transduction			g.chr16:1828177G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.450C>T	16.37:g.1828177G>A						SPSB3_uc002cms.2_Silent_p.F22F|SPSB3_uc002cmt.2_Silent_p.F22F|SPSB3_uc002cmu.2_Silent_p.F150F|SPSB3_uc002cmv.2_Silent_p.F22F|SPSB3_uc010uvm.1_3'UTR	p.F150F	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN			3	483	-			150			B30.2/SPRY.		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	c.450C>T	CCDS32365.1																																																																																				0.637	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		4	19	0	0	0	0.009096	0	4	19				
PKD1	5310	broad.mit.edu	37	16	2153583	2153583	+	Silent	SNP	G	G	T	rs202070927		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:2153583G>T	ENST00000262304.4	-	23	8683	c.8475C>A	c.(8473-8475)ctC>ctA	p.L2825L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2825L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2825	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2825L(1)		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						CCAGAAAGATGAGCTGCACCA	0.622																																							uc002cos.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(8473-8475)CTC>CTA		polycystin 1 isoform 1 precursor							37.0	40.0	39.0					16																	2153583		2188	4280	6468	SO:0001819	synonymous_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.chr16:2153583G>T	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.8475C>A	16.37:g.2153583G>T						PKD1_uc002cot.1_Silent_p.L2825L|PKD1_uc010bse.1_RNA	p.L2825L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			23	8684	-			2825			Extracellular (Potential).|REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.8475C>A	CCDS32369.1																																																																																				0.622	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			5	82	1	0	4.096e-09	0.001168	5.34756e-09	5	82				
SRRM2	23524	broad.mit.edu	37	16	2812607	2812607	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:2812607G>T	ENST00000301740.8	+	11	2627	c.2078G>T	c.(2077-2079)cGg>cTg	p.R693L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	693	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R693L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGGAGGTCTCGGTCTAGGACA	0.567																																							uc002crk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2077-2079)CGG>CTG		splicing coactivator subunit SRm300							74.0	76.0	75.0					16																	2812607		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812607G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2078G>T	16.37:g.2812607G>T	ENSP00000301740:p.Arg693Leu					SRRM2_uc002crj.1_Missense_Mutation_p.R597L|SRRM2_uc002crl.1_Missense_Mutation_p.R693L|SRRM2_uc010bsu.1_Missense_Mutation_p.R597L	p.R693L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2627	+			693			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2078G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	7.460	0.644444	0.14451	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.27256	1.68	5.84	4.88	0.63580	.	0.121832	0.37261	N	0.002162	T	0.16085	0.0387	L	0.27053	0.805	0.33573	D	0.598826	B	0.27498	0.18	B	0.23275	0.045	T	0.16958	-1.0385	10	0.41790	T	0.15	-3.562	7.1364	0.25531	0.0886:0.0:0.7431:0.1683	.	693	Q9UQ35	SRRM2_HUMAN	L	693;693;658	ENSP00000301740:R693L	ENSP00000301740:R693L	R	+	2	0	SRRM2	2752608	0.014000	0.17966	0.962000	0.40283	0.085000	0.17905	1.647000	0.37260	1.440000	0.47531	0.563000	0.77884	CGG		0.567	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			14	70	1	0	7.93312e-07	0.00245	9.58774e-07	14	70				
ZNF213	7760	broad.mit.edu	37	16	3190770	3190770	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:3190770G>T	ENST00000396878.3	+	6	1277	c.802G>T	c.(802-804)Gtg>Ttg	p.V268L	ZNF213_ENST00000576416.1_Missense_Mutation_p.V268L|ZNF213_ENST00000574902.1_Missense_Mutation_p.V268L|ZNF213_ENST00000416391.2_Missense_Mutation_p.V110L	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	268	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V268L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGCAGCGACGTGACTGTGTC	0.697																																							uc010uws.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GTG>TTG		zinc finger protein 213							33.0	37.0	36.0					16																	3190770		2195	4299	6494	SO:0001583	missense	7760				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3190770G>T	AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.802G>T	16.37:g.3190770G>T	ENSP00000380087:p.Val268Leu					ZNF213_uc002cud.2_RNA|ZNF213_uc010btf.2_3'UTR|ZNF213_uc010bth.2_Missense_Mutation_p.V268L|ZNF213_uc010uwt.1_3'UTR	p.V268L	NM_004220	NP_004211	O14771	ZN213_HUMAN			6	1249	+			268			KRAB.		A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	ENST00000396878.3	37	c.802G>T	CCDS10495.1	.	.	.	.	.	.	.	.	.	.	G	9.543	1.113785	0.20795	.	.	ENSG00000085644	ENST00000396878;ENST00000416391	T;T	0.04970	3.55;3.52	4.79	2.82	0.32997	Krueppel-associated box (1);	0.534814	0.13845	N	0.358793	T	0.04003	0.0112	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47045	-0.9147	10	0.10636	T	0.68	.	8.6481	0.34018	0.1454:0.0:0.8546:0.0	.	268	O14771	ZN213_HUMAN	L	268;110	ENSP00000380087:V268L;ENSP00000403892:V110L	ENSP00000380087:V268L	V	+	1	0	ZNF213	3130771	0.000000	0.05858	0.001000	0.08648	0.285000	0.27093	0.555000	0.23422	0.448000	0.26722	0.205000	0.17691	GTG		0.697	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437334.1	NM_004220		6	48	1	0	2.0095e-06	0.001984	2.38769e-06	6	48				
USP7	7874	broad.mit.edu	37	16	8998387	8998387	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:8998387G>T	ENST00000344836.4	-	15	1807	c.1609C>A	c.(1609-1611)Cct>Act	p.P537T	USP7_ENST00000381886.4_Missense_Mutation_p.P521T|USP7_ENST00000535863.1_Missense_Mutation_p.P438T	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	537					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P537T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AACTGCTGAGGAATATCATGG	0.522																																							uc002czl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1609-1611)CCT>ACT		ubiquitin specific peptidase 7							109.0	92.0	98.0					16																	8998387		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:8998387G>T	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.1609C>A	16.37:g.8998387G>T	ENSP00000343535:p.Pro537Thr					USP7_uc010uyk.1_Missense_Mutation_p.P438T|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.P438T|USP7_uc002czk.2_Missense_Mutation_p.P521T|USP7_uc010uyl.1_Intron	p.P537T	NM_003470	NP_003461	Q93009	UBP7_HUMAN			15	1808	-			537					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.1609C>A	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872304	0.91587	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549	T;T	0.05996	3.36;3.36	5.2	5.2	0.72013	Peptidase C19  domain (1);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	M	0.91140	3.18	0.80722	D	1	D;D	0.69078	0.994;0.997	D;D	0.77004	0.989;0.989	T	0.43032	-0.9416	10	0.66056	D	0.02	.	18.7258	0.91713	0.0:0.0:1.0:0.0	.	537;521	Q93009;B7Z815	UBP7_HUMAN;.	T	537;545;438;438	ENSP00000343535:P537T;ENSP00000443646:P438T	ENSP00000343535:P537T	P	-	1	0	USP7	8905888	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.751000	0.98889	2.423000	0.82170	0.455000	0.32223	CCT		0.522	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			5	77	1	0	0.00198382	0.001984	0.00211908	5	77				
GPRC5B	51704	broad.mit.edu	37	16	19873227	19873227	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:19873227G>C	ENST00000300571.2	-	3	1290	c.1099C>G	c.(1099-1101)Ccc>Gcc	p.P367A	GPRC5B_ENST00000569847.1_Missense_Mutation_p.P367A|GPRC5B_ENST00000535671.1_Missense_Mutation_p.P367A|GPRC5B_ENST00000537135.1_Missense_Mutation_p.P393A|GPRC5B_ENST00000569479.1_Missense_Mutation_p.P367A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	367					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)	p.P367A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGAGCGCTGGGTCTTTTCCCC	0.547																																							uc002dgt.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)|skin(1)	3						c.(1099-1101)CCC>GCC		G protein-coupled receptor, family C, group 5,							101.0	85.0	90.0					16																	19873227		2197	4300	6497	SO:0001583	missense	51704							g.chr16:19873227G>C	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1099C>G	16.37:g.19873227G>C	ENSP00000300571:p.Pro367Ala					GPRC5B_uc010vav.1_Missense_Mutation_p.P393A	p.P367A	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN			3	1207	-			367			Cytoplasmic (Potential).		D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1099C>G	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995447	0.54147	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.34859	1.39;1.41;1.34	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	L	0.50333	1.59	0.54753	D	0.999989	B;B	0.21071	0.051;0.007	B;B	0.14023	0.01;0.007	T	0.08351	-1.0726	9	.	.	.	.	11.2302	0.48907	0.0:0.0:1.0:0.0	.	393;367	B7Z831;Q9NZH0	.;GPC5B_HUMAN	A	367;367;216;393	ENSP00000300571:P367A;ENSP00000442858:P367A;ENSP00000441775:P393A	.	P	-	1	0	GPRC5B	19780728	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.902000	0.48703	2.112000	0.64535	0.561000	0.74099	CCC		0.547	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			5	62	0	0	0	0.000602	0	5	62				
SLC5A11	115584	broad.mit.edu	37	16	24902295	24902295	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:24902295C>A	ENST00000347898.3	+	9	1392	c.770C>A	c.(769-771)gCc>gAc	p.A257D	SLC5A11_ENST00000567758.1_Missense_Mutation_p.A222D|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A187D|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A187D|SLC5A11_ENST00000539472.1_Missense_Mutation_p.A193D|SLC5A11_ENST00000569071.1_Intron|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A222D|SLC5A11_ENST00000449109.2_Intron|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A193D	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11									p.A257D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CGGGAAGATGCCTTCCATATT	0.587																																							uc002dmu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(769-771)GCC>GAC		solute carrier family 5 (sodium/glucose							127.0	127.0	127.0					16																	24902295		2197	4300	6497	SO:0001583	missense	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24902295C>A	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.770C>A	16.37:g.24902295C>A	ENSP00000289932:p.Ala257Asp					SLC5A11_uc002dms.2_Missense_Mutation_p.A193D|SLC5A11_uc010vcd.1_Missense_Mutation_p.A222D|SLC5A11_uc002dmt.2_Intron|SLC5A11_uc010vce.1_Missense_Mutation_p.A187D|SLC5A11_uc010bxt.2_Missense_Mutation_p.A193D	p.A257D	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	9	1002	+			257			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000347898.3	37	c.770C>A	CCDS10625.1	.	.	.	.	.	.	.	.	.	.	C	33	5.245764	0.95272	.	.	ENSG00000158865	ENST00000347898;ENST00000424767;ENST00000545376;ENST00000539472	D;D;D;D	0.88509	-2.39;-2.39;-2.39;-2.39	5.71	5.71	0.89125	.	0.049048	0.85682	D	0.000000	D	0.95127	0.8421	M	0.87547	2.89	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.74348	0.973;0.954;0.983	D	0.95522	0.8595	10	0.87932	D	0	.	17.3547	0.87332	0.0:1.0:0.0:0.0	.	187;222;257	B7Z329;Q8WWX8-2;Q8WWX8	.;.;SC5AB_HUMAN	D	257;222;187;193	ENSP00000289932:A257D;ENSP00000416782:A222D;ENSP00000441384:A187D;ENSP00000441018:A193D	ENSP00000289932:A257D	A	+	2	0	SLC5A11	24809796	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	7.679000	0.84048	2.700000	0.92200	0.650000	0.86243	GCC		0.587	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944		47	186	1	0	4.01344e-20	0.00361	5.77444e-20	47	186				
PHKB	5257	broad.mit.edu	37	16	47623005	47623005	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:47623005G>A	ENST00000323584.5	+	10	1084	c.1060G>A	c.(1060-1062)Gaa>Aaa	p.E354K	PHKB_ENST00000299167.8_Missense_Mutation_p.E354K|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000455779.1_Missense_Mutation_p.E347K|PHKB_ENST00000566044.1_Missense_Mutation_p.E347K	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	354					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.E354K(2)|p.E347K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CAAGCCAGCTGAAATTAAGGT	0.368																																							uc002eev.3		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(1060-1062)GAA>AAA		phosphorylase kinase, beta isoform a							52.0	56.0	55.0					16																	47623005		2201	4300	6501	SO:0001583	missense	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47623005G>A		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.1060G>A	16.37:g.47623005G>A	ENSP00000313504:p.Glu354Lys					PHKB_uc002eeu.3_Missense_Mutation_p.E347K	p.E354K	NM_000293	NP_000284	Q93100	KPBB_HUMAN			10	1112	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	354					Q8N4T5	Missense_Mutation	SNP	ENST00000323584.5	37	c.1060G>A	CCDS10729.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882649	0.91740	.	.	ENSG00000102893	ENST00000299167;ENST00000455779;ENST00000323584	D;D	0.93712	-3.27;-3.27	5.83	4.88	0.63580	Six-hairpin glycosidase-like (1);Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	M	0.92317	3.295	0.80722	D	1	D;P	0.69078	0.997;0.921	D;P	0.68765	0.96;0.654	D	0.98085	1.0406	10	0.87932	D	0	-21.9213	14.834	0.70169	0.0686:0.0:0.9314:0.0	.	354;347	Q93100;Q93100-4	KPBB_HUMAN;.	K	347;347;354	ENSP00000414345:E347K;ENSP00000313504:E354K	ENSP00000299167:E347K	E	+	1	0	PHKB	46180506	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	9.717000	0.98755	1.492000	0.48499	-0.225000	0.12378	GAA		0.368	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			4	61	0	0	0	0.009096	0	4	61				
ABCC11	85320	broad.mit.edu	37	16	48261806	48261806	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:48261806C>T	ENST00000394747.1	-	3	655	c.306G>A	c.(304-306)ccG>ccA	p.P102P	ABCC11_ENST00000537808.1_Silent_p.P102P|ABCC11_ENST00000356608.2_Silent_p.P102P|ABCC11_ENST00000353782.5_Silent_p.P102P|ABCC11_ENST00000394748.1_Silent_p.P102P	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	102					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|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)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.P102P(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	GGATCATGAGCGGGGTGAGCC	0.537																																							uc002eff.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(304-306)CCG>CCA		ATP-binding cassette, sub-family C, member 11							119.0	109.0	112.0					16																	48261806		2200	4300	6500	SO:0001819	synonymous_variant	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48261806C>T	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.306G>A	16.37:g.48261806C>T						ABCC11_uc002efg.1_Silent_p.P102P|ABCC11_uc002efh.1_Silent_p.P102P|ABCC11_uc010vgl.1_Silent_p.P102P	p.P102P	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			3	656	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	102			Cytoplasmic (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	ENST00000394747.1	37	c.306G>A	CCDS10732.1																																																																																				0.537	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		13	99	0	0	0	0.001368	0	13	99				
SLC12A3	6559	broad.mit.edu	37	16	56920945	56920945	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:56920945G>T	ENST00000563236.1	+	17	2143	c.2118G>T	c.(2116-2118)aaG>aaT	p.K706N	SLC12A3_ENST00000262502.5_Missense_Mutation_p.K705N|SLC12A3_ENST00000566786.1_Missense_Mutation_p.K705N|SLC12A3_ENST00000438926.2_Missense_Mutation_p.K706N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	706					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.K706N(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGAAGATCAAGGCCTTCTACT	0.612																																							uc010ccm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2116-2118)AAG>AAT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						105.0	89.0	95.0					16																	56920945		2198	4300	6498	SO:0001583	missense	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56920945G>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2118G>T	16.37:g.56920945G>T	ENSP00000456149:p.Lys706Asn					SLC12A3_uc002ekd.3_Missense_Mutation_p.K706N|SLC12A3_uc010ccn.2_Missense_Mutation_p.K705N	p.K706N	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			17	2147	+			706			Cytoplasmic (Potential).		A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	c.2118G>T	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668595	0.67814	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.66	3.71	0.42584	.	0.142736	0.64402	D	0.000009	T	0.74207	0.3686	M	0.83384	2.64	0.80722	D	1	P;D;D	0.58268	0.878;0.97;0.982	P;P;P	0.57548	0.511;0.606;0.823	T	0.76030	-0.3108	9	0.87932	D	0	.	9.4962	0.38989	0.2147:0.0:0.7853:0.0	.	705;706;706	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	N	705;706	.	ENSP00000262502:K706N	K	+	3	2	SLC12A3	55478446	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.166000	0.31834	0.752000	0.32923	0.551000	0.68910	AAG		0.612	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			5	41	1	0	5.9392e-07	0.001168	7.28198e-07	5	41				
CNOT1	23019	broad.mit.edu	37	16	58568128	58568128	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:58568128C>A	ENST00000317147.5	-	40	6150	c.5818G>T	c.(5818-5820)Gtt>Ttt	p.V1940F	CNOT1_ENST00000569240.1_Missense_Mutation_p.V1935F|CNOT1_ENST00000245138.4_Missense_Mutation_p.V791F	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1940					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)	p.V1940F(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATGAGTCGAACAAAGGCATCC	0.493																																							uc002env.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(5818-5820)GTT>TTT		CCR4-NOT transcription complex, subunit 1							187.0	140.0	156.0					16																	58568128		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58568128C>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.5818G>T	16.37:g.58568128C>A	ENSP00000320949:p.Val1940Phe					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.V1935F|CNOT1_uc002ent.2_5'Flank|CNOT1_uc010vik.1_Missense_Mutation_p.V897F	p.V1940F	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	40	6111	-			1940					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.5818G>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	35	5.518505	0.96416	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200	T	0.50548	0.74	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.84433	2.695	0.80722	D	1	D;D;D	0.65815	0.995;0.984;0.992	P;P;D	0.63793	0.901;0.823;0.918	T	0.76096	-0.3084	10	0.87932	D	0	.	20.1175	0.97942	0.0:1.0:0.0:0.0	.	791;1940;1935	B5MDN3;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	F	1940;634;791;1935	ENSP00000320949:V1940F	ENSP00000245138:V791F	V	-	1	0	CNOT1	57125629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.591000	0.81541	GTT		0.493	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		14	36	1	0	7.93312e-07	0.00245	9.58774e-07	14	36				
NFATC3	4775	broad.mit.edu	37	16	68225105	68225105	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:68225105G>T	ENST00000346183.3	+	9	2557	c.2533G>T	c.(2533-2535)Ggc>Tgc	p.G845C	NFATC3_ENST00000329524.4_Missense_Mutation_p.G845C|NFATC3_ENST00000349223.5_Missense_Mutation_p.G845C|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.G845C|SNORA48_ENST00000391143.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	845					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G845C(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AGTGAATCTTGGCTGTCAACC	0.423																																							uc002evo.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3						c.(2533-2535)GGC>TGC		nuclear factor of activated T-cells,							213.0	194.0	200.0					16																	68225105		2198	4300	6498	SO:0001583	missense	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68225105G>T	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.2533G>T	16.37:g.68225105G>T	ENSP00000300659:p.Gly845Cys					NFATC3_uc010vkl.1_Missense_Mutation_p.G366C|NFATC3_uc010vkm.1_Missense_Mutation_p.G366C|NFATC3_uc010vkn.1_Missense_Mutation_p.G366C|NFATC3_uc010vko.1_Missense_Mutation_p.G366C|NFATC3_uc010vkp.1_Missense_Mutation_p.G366C|NFATC3_uc010vkq.1_Missense_Mutation_p.G366C|NFATC3_uc002evl.2_Missense_Mutation_p.G366C|NFATC3_uc002evk.2_Missense_Mutation_p.G845C|NFATC3_uc002evm.1_Missense_Mutation_p.G845C|NFATC3_uc002evn.1_Missense_Mutation_p.G845C|NFATC3_uc010vkr.1_Missense_Mutation_p.G366C|NFATC3_uc010vks.1_Missense_Mutation_p.G366C|NFATC3_uc010vkt.1_Missense_Mutation_p.G366C|NFATC3_uc010vku.1_Missense_Mutation_p.G366C|NFATC3_uc010vkv.1_Missense_Mutation_p.G366C|NFATC3_uc010vkw.1_Missense_Mutation_p.G366C|NFATC3_uc010vkx.1_Missense_Mutation_p.G366C|NFATC3_uc010vky.1_Missense_Mutation_p.G366C|NFATC3_uc010vkz.1_Missense_Mutation_p.G366C|NFATC3_uc010vla.1_Missense_Mutation_p.G366C|NFATC3_uc010vlb.1_Missense_Mutation_p.G366C|NFATC3_uc010vlc.1_Missense_Mutation_p.G366C	p.G845C	NM_173165	NP_775188	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	9	2743	+		Ovarian(137;0.0563)	845					O75211|Q14516|Q99840|Q99841|Q99842	Missense_Mutation	SNP	ENST00000346183.3	37	c.2533G>T	CCDS10860.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223634	0.58668	.	.	ENSG00000072736	ENST00000349223;ENST00000346183;ENST00000329524;ENST00000535127	T;T;T	0.11169	2.8;2.81;2.81	5.54	0.86	0.19042	.	0.419847	0.27388	N	0.019596	T	0.14830	0.0358	L	0.29908	0.895	0.42502	D	0.99293	D;D;D;D	0.57571	0.958;0.98;0.958;0.958	P;P;P;P	0.59288	0.65;0.855;0.65;0.65	T	0.01961	-1.1239	10	0.66056	D	0.02	-0.1705	9.4415	0.38670	0.4319:0.0:0.5681:0.0	.	845;845;845;845	Q12968;Q12968-3;B5B2S0;B5B2S2	NFAC3_HUMAN;.;.;.	C	845;845;845;366	ENSP00000264008:G845C;ENSP00000300659:G845C;ENSP00000331324:G845C	ENSP00000331324:G845C	G	+	1	0	NFATC3	66782606	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	1.238000	0.32707	0.306000	0.22856	0.455000	0.32223	GGC		0.423	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	NM_004555		39	178	1	0	9.62906e-15	0.00623	1.34871e-14	39	178				
CMTR2	55783	broad.mit.edu	37	16	71319478	71319478	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:71319478A>G	ENST00000338099.5	-	3	682	c.346T>C	c.(346-348)Tgt>Cgt	p.C116R	CMTR2_ENST00000434935.2_Missense_Mutation_p.C116R			Q8IYT2	CMTR2_HUMAN	cap methyltransferase 2	116	Adrift-type SAM-dependent 2'-O-MTase. {ECO:0000255|PROSITE-ProRule:PRU00946}.				7-methylguanosine mRNA capping (GO:0006370)|cap2 mRNA methylation (GO:0097310)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)	p.C116R(1)									TGGAACTTACACCATGCTTGA	0.413																																							uc010cga.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(346-348)TGT>CGT		FtsJ methyltransferase domain containing 1							68.0	65.0	66.0					16																	71319478		2198	4300	6498	SO:0001583	missense	55783					integral to membrane	methyltransferase activity|nucleic acid binding	g.chr16:71319478A>G	BC035005	CCDS10898.1	16q22.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000180917	ENSG00000180917			25635	protein-coding gene	gene with protein product	"""adrift homolog (Drosophila)"""		"""FtsJ methyltransferase domain containing 1"""	FTSJD1		21310715	Standard	NM_018348		Approved	FLJ11171, AFT, MTr2	uc010cga.3	Q8IYT2	OTTHUMG00000137587	ENST00000338099.5:c.346T>C	16.37:g.71319478A>G	ENSP00000337512:p.Cys116Arg					FTSJD1_uc002ezy.3_Missense_Mutation_p.C116R|FTSJD1_uc002ezz.3_Missense_Mutation_p.C116R	p.C116R	NM_001099642	NP_001093112	Q8IYT2	FTSJ1_HUMAN			3	752	-			116					B2RCD5|D3DWS1|Q8NE77|Q8NFR5|Q9H8Z4|Q9NUS3|Q9NXF5	Missense_Mutation	SNP	ENST00000338099.5	37	c.346T>C	CCDS10898.1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596503	0.46318	.	.	ENSG00000180917	ENST00000338099;ENST00000434935	T;T	0.28895	1.59;1.59	5.56	5.56	0.83823	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.108090	0.64402	D	0.000004	T	0.50086	0.1595	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.50980	-0.8763	10	0.72032	D	0.01	-29.0912	14.9098	0.70746	1.0:0.0:0.0:0.0	.	116	Q8IYT2	FTSJ1_HUMAN	R	116	ENSP00000337512:C116R;ENSP00000411148:C116R	ENSP00000337512:C116R	C	-	1	0	FTSJD1	69876979	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.187000	0.77730	2.114000	0.64651	0.459000	0.35465	TGT		0.413	CMTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268984.2	NM_018348		20	75	0	0	0	0.007413	0	20	75				
CNTNAP4	85445	broad.mit.edu	37	16	76513396	76513396	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:76513396G>T	ENST00000476707.1	+	11	1991	c.1852G>T	c.(1852-1854)Ggt>Tgt	p.G618C	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.G614C|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G566C|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G542C|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	615	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.G542C(1)|p.G614C(1)|p.G590C(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGATGGAAGTGGTCCCCTGGA	0.338																																							uc002feu.1		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1843-1845)GGT>TGT		cell recognition protein CASPR4 isoform 1							115.0	122.0	119.0					16																	76513396		2198	4297	6495	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76513396G>T	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1852G>T	16.37:g.76513396G>T	ENSP00000417628:p.Gly618Cys					CNTNAP4_uc002fev.1_Missense_Mutation_p.G479C|CNTNAP4_uc010chb.1_Missense_Mutation_p.G542C|CNTNAP4_uc002fex.1_Missense_Mutation_p.G618C|CNTNAP4_uc002few.2_Missense_Mutation_p.G590C	p.G615C	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			14	2228	+			615			Extracellular (Potential).|Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1843G>T		.	.	.	.	.	.	.	.	.	.	G	23.8	4.457668	0.84317	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.57	5.57	0.84162	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (3);	0.000000	0.40554	N	0.001079	T	0.78824	0.4344	.	.	.	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.996;1.0	D;D;D;D	0.97110	0.95;1.0;0.979;0.998	T	0.80344	-0.1422	9	0.87932	D	0	.	19.3573	0.94420	0.0:0.0:1.0:0.0	.	542;618;590;615	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	C	614;566;542;618	ENSP00000306893:G614C;ENSP00000439733:G566C;ENSP00000418741:G542C;ENSP00000417628:G618C	ENSP00000306893:G614C	G	+	1	0	CNTNAP4	75070897	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.575000	0.98187	2.902000	0.99343	0.650000	0.86243	GGT		0.338	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		25	90	1	0	4.59853e-10	0.005443	6.11691e-10	25	90				
CDK10	8558	broad.mit.edu	37	16	89758876	89758876	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr16:89758876A>C	ENST00000353379.7	+	6	480	c.437A>C	c.(436-438)cAg>cCg	p.Q146P	CDK10_ENST00000331006.8_Missense_Mutation_p.Q99P|CDK10_ENST00000505473.1_Missense_Mutation_p.Q75P	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	146	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.Q146P(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		ATCGTGCTGCAGGTGCTCCGG	0.597																																							uc010cio.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)CAG>CCG		cyclin-dependent kinase 10 isoform a							88.0	78.0	81.0					16																	89758876		2198	4300	6498	SO:0001583	missense	8558				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr16:89758876A>C	L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.437A>C	16.37:g.89758876A>C	ENSP00000338673:p.Gln146Pro					CDK10_uc010cip.2_Missense_Mutation_p.Q75P|CDK10_uc010vpl.1_Missense_Mutation_p.Q140P|CDK10_uc002fob.2_Missense_Mutation_p.Q75P|CDK10_uc002fod.2_Missense_Mutation_p.Q75P|CDK10_uc002foe.2_Missense_Mutation_p.Q75P|CDK10_uc002fof.2_Missense_Mutation_p.Q75P|CDK10_uc002fog.3_Missense_Mutation_p.Q75P|CDK10_uc002foh.3_Missense_Mutation_p.Q75P|CDK10_uc002foi.2_5'Flank	p.Q146P	NM_052988	NP_443714	Q15131	CDK10_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0276)	6	480	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	146			Protein kinase.		A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	Missense_Mutation	SNP	ENST00000353379.7	37	c.437A>C	CCDS10984.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.059833	0.76074	.	.	ENSG00000185324	ENST00000331006;ENST00000393082;ENST00000505473;ENST00000353379	T;T;T	0.56444	0.46;0.46;0.46	4.51	4.51	0.55191	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	0.79958	0.4536	H	0.95850	3.73	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;0.995;1.0	D;D;D;D;D;D	0.85130	0.997;0.993;0.991;0.991;0.964;0.997	D	0.85873	0.1417	10	0.87932	D	0	-42.6214	12.5161	0.56034	1.0:0.0:0.0:0.0	.	140;75;146;75;75;104	B7Z319;A8K370;Q15131;Q15131-3;Q15131-4;Q59EI2	.;.;CDK10_HUMAN;.;.;.	P	99;117;75;146	ENSP00000329957:Q99P;ENSP00000424415:Q75P;ENSP00000338673:Q146P	ENSP00000329957:Q99P	Q	+	2	0	CDK10	88286377	1.000000	0.71417	0.991000	0.47740	0.959000	0.62525	7.914000	0.87478	1.889000	0.54706	0.402000	0.26972	CAG		0.597	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			7	43	0	0	0	0.001984	0	7	43				
SPNS3	201305	broad.mit.edu	37	17	4337360	4337360	+	Missense_Mutation	SNP	C	C	T	rs200782432		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:4337360C>T	ENST00000355530.2	+	1	378	c.98C>T	c.(97-99)aCg>aTg	p.T33M	SPNS3_ENST00000333476.2_5'UTR|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	33					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.T33M(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCTCCCATCACGCCCACCTCC	0.657																																							uc002fxt.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(97-99)ACG>ATG		spinster homolog 3							64.0	62.0	62.0					17																	4337360		2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4337360C>T		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.98C>T	17.37:g.4337360C>T	ENSP00000347721:p.Thr33Met					SPNS3_uc002fxu.2_Translation_Start_Site	p.T33M	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN			1	142	+			33					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.98C>T	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	T	8.118	0.780375	0.16120	.	.	ENSG00000182557	ENST00000355530	T	0.59364	0.27	3.95	-6.4	0.01944	Major facilitator superfamily domain, general substrate transporter (1);	1.835400	0.02526	N	0.093099	T	0.33177	0.0854	N	0.08118	0	0.18873	N	0.999987	B	0.17268	0.021	B	0.10450	0.005	T	0.22068	-1.0227	10	0.45353	T	0.12	5.8822	6.2366	0.20766	0.0:0.2186:0.2579:0.5234	.	33	Q6ZMD2	SPNS3_HUMAN	M	33	ENSP00000347721:T33M	ENSP00000347721:T33M	T	+	2	0	SPNS3	4284109	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.872000	0.00345	-1.355000	0.02186	-0.755000	0.03482	ACG		0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		10	67	0	0	0	0.006214	0	10	67				
WSCD1	23302	broad.mit.edu	37	17	6023892	6023892	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:6023892G>T	ENST00000574946.1	+	9	2029	c.1639G>T	c.(1639-1641)Gac>Tac	p.D547Y	WSCD1_ENST00000317744.5_Missense_Mutation_p.D547Y|WSCD1_ENST00000574232.1_Missense_Mutation_p.D547Y|WSCD1_ENST00000539421.1_Missense_Mutation_p.D547Y|WSCD1_ENST00000573634.1_Missense_Mutation_p.D431Y			Q658N2	WSCD1_HUMAN	WSC domain containing 1	547						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)	p.D547Y(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GGAGATGAAAGACTTGATCAA	0.652																																							uc010cli.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1639-1641)GAC>TAC		WSC domain containing 1							57.0	65.0	62.0					17																	6023892		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:6023892G>T		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1639G>T	17.37:g.6023892G>T	ENSP00000460825:p.Asp547Tyr					WSCD1_uc002gcn.2_Missense_Mutation_p.D547Y|WSCD1_uc002gco.2_Missense_Mutation_p.D547Y|WSCD1_uc010clj.2_Missense_Mutation_p.D238Y	p.D547Y	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			9	2018	+			547					A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.1639G>T	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277245	0.59758	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.30981	1.51;1.51	5.44	5.44	0.79542	.	0.579694	0.20012	N	0.101097	T	0.20577	0.0495	N	0.22421	0.69	0.36431	D	0.864915	P	0.43938	0.822	B	0.38428	0.273	T	0.16778	-1.0391	10	0.62326	D	0.03	-29.4427	10.2338	0.43270	0.09:0.0:0.91:0.0	.	547	Q658N2	WSCD1_HUMAN	Y	547	ENSP00000323087:D547Y;ENSP00000446032:D547Y	ENSP00000323087:D547Y	D	+	1	0	WSCD1	5964616	1.000000	0.71417	0.984000	0.44739	0.910000	0.53928	3.272000	0.51616	2.549000	0.85964	0.655000	0.94253	GAC		0.652	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		10	41	1	0	2.17888e-05	0.006214	2.51135e-05	10	41				
TMEM95	339168	broad.mit.edu	37	17	7258657	7258657	+	Missense_Mutation	SNP	G	G	T	rs528759368		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:7258657G>T	ENST00000576060.1	+	1	161	c.134G>T	c.(133-135)tGt>tTt	p.C45F	TMEM95_ENST00000389982.4_Missense_Mutation_p.C45F|TMEM95_ENST00000330767.4_Missense_Mutation_p.C45F|RP11-542C16.1_ENST00000572417.1_RNA			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	45						integral component of membrane (GO:0016021)		p.C45F(1)		large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CAGAAGGAATGTGGGGCCTCC	0.652																																							uc002ggh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(133-135)TGT>TTT		transmembrane protein 95							42.0	44.0	43.0					17																	7258657		2203	4300	6503	SO:0001583	missense	339168					integral to membrane		g.chr17:7258657G>T		CCDS32546.1	17p13.1	2005-12-15			ENSG00000182896	ENSG00000182896			27898	protein-coding gene	gene with protein product						12975309	Standard	NM_198154		Approved	MGC129793, UNQ9390	uc002ggf.1	Q3KNT9	OTTHUMG00000132899	ENST00000576060.1:c.134G>T	17.37:g.7258657G>T	ENSP00000460828:p.Cys45Phe					TMEM95_uc002ggf.1_Missense_Mutation_p.C45F|TMEM95_uc002ggg.1_Missense_Mutation_p.C45F	p.C45F	NM_198154	NP_937797	Q3KNT9	TMM95_HUMAN			1	161	+		Prostate(122;0.173)	45			Extracellular (Potential).		B7WPI7|Q6UXT3|Q8IW68	Missense_Mutation	SNP	ENST00000576060.1	37	c.134G>T		.	.	.	.	.	.	.	.	.	.	G	10.98	1.505376	0.26949	.	.	ENSG00000182896	ENST00000389982;ENST00000330767	.	.	.	5.32	4.28	0.50868	.	0.178806	0.27563	N	0.018801	T	0.49355	0.1552	L	0.29908	0.895	0.18873	N	0.999981	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.994;0.997;0.994	T	0.31806	-0.9930	9	0.66056	D	0.02	.	10.4253	0.44373	0.0:0.0:0.8054:0.1946	.	45;45;45	Q3KNT9;Q3KNT9-3;Q3KNT9-2	TMM95_HUMAN;.;.	F	45	.	ENSP00000331466:C45F	C	+	2	0	TMEM95	7199381	0.986000	0.35501	0.452000	0.26994	0.023000	0.10783	2.415000	0.44635	2.504000	0.84457	0.561000	0.74099	TGT		0.652	TMEM95-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440555.2	NM_198154		7	33	1	0	1.26484e-09	0.00308	1.67197e-09	7	33				
DNAH2	146754	broad.mit.edu	37	17	7701598	7701598	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:7701598A>T	ENST00000572933.1	+	54	9814	c.8354A>T	c.(8353-8355)cAg>cTg	p.Q2785L	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2785L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2785	AAA 4. {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)	p.Q2785L(1)		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)				ACCACCTTCCAGATCGAGGTC	0.557																																							uc002giu.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(8353-8355)CAG>CTG		dynein heavy chain domain 3							49.0	48.0	48.0					17																	7701598		2203	4300	6503	SO:0001583	missense	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7701598A>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.8354A>T	17.37:g.7701598A>T	ENSP00000458355:p.Gln2785Leu						p.Q2785L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			53	8368	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2785			AAA 4 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	c.8354A>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.997015	0.93167	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.53640	0.61	5.6	5.6	0.85130	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	H	0.97758	4.07	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	D	0.86841	0.2017	10	0.87932	D	0	.	14.768	0.69654	1.0:0.0:0.0:0.0	.	2785	Q9P225	DYH2_HUMAN	L	2785	ENSP00000373825:Q2785L	ENSP00000353818:Q2785L	Q	+	2	0	DNAH2	7642323	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.767000	0.91732	2.132000	0.65825	0.374000	0.22700	CAG		0.557	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		4	35	0	0	0	0.009096	0	4	35				
CHD3	1107	broad.mit.edu	37	17	7803213	7803213	+	Splice_Site	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:7803213G>A	ENST00000330494.7	+	16	2694		c.e16-1		CHD3_ENST00000358181.4_Splice_Site|CHD3_ENST00000380358.4_Splice_Site	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3						centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TATGTTGGCAGAGGGAGGCAC	0.537																																							uc002gje.2		NA																	1	Unknown(1)		lung(1)	breast(1)	1						c.e16-1		chromodomain helicase DNA binding protein 3							198.0	171.0	180.0					17																	7803213		2203	4300	6503	SO:0001630	splice_region_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7803213G>A	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2545-1G>A	17.37:g.7803213G>A						CHD3_uc002gjd.2_Splice_Site_p.R908_splice|CHD3_uc002gjf.2_Splice_Site_p.R849_splice	p.R849_splice	NM_001005273	NP_001005273	Q12873	CHD3_HUMAN			16	2695	+		Prostate(122;0.202)						D3DTQ9|E9PG89|Q9Y4I0	Splice_Site	SNP	ENST00000330494.7	37	c.2545_splice	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206181	0.79127	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3554	0.94410	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHD3	7743938	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.208000	0.95075	2.813000	0.96785	0.561000	0.74099	.		0.537	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	Intron	8	48	0	0	0	0.008291	0	8	48				
ALOXE3	59344	broad.mit.edu	37	17	8018293	8018293	+	Silent	SNP	A	A	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:8018293A>G	ENST00000448843.2	-	5	857	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	ALOXE3_ENST00000380149.1_Silent_p.L329L|ALOXE3_ENST00000318227.3_Silent_p.L305L	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	173	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.L173L(1)|p.L305L(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GTCTTTGTCAAGGCAAATTTC	0.507																																							uc010cnr.2		NA																	2	Substitution - coding silent(2)		lung(2)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(517-519)TTG>CTG		arachidonate lipoxygenase 3 isoform 2							224.0	200.0	208.0					17																	8018293		2203	4300	6503	SO:0001819	synonymous_variant	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8018293A>G	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.517T>C	17.37:g.8018293A>G						ALOXE3_uc002gka.2_Silent_p.L329L|ALOXE3_uc010vuo.1_Silent_p.L305L|ALOXE3_uc010vup.1_RNA	p.L173L	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			5	887	-			173			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Silent	SNP	ENST00000448843.2	37	c.517T>C	CCDS11130.1																																																																																				0.507	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			19	191	0	0	0	0.012319	0	19	191				
WDR16	146845	broad.mit.edu	37	17	9503470	9503470	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:9503470T>A	ENST00000352665.5	+	6	792	c.723T>A	c.(721-723)gaT>gaA	p.D241E	WDR16_ENST00000396219.3_Missense_Mutation_p.D173E|WDR16_ENST00000299764.5_Missense_Mutation_p.D251E	NM_145054.4	NP_659491.4			WD repeat domain 16									p.D241E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TGCTGACAGATGTTGGGCCTG	0.453																																							uc002gly.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(721-723)GAT>GAA		WD40-repeat protein upregulated in HCC isoform							159.0	152.0	154.0					17																	9503470		2203	4300	6503	SO:0001583	missense	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9503470T>A	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.723T>A	17.37:g.9503470T>A	ENSP00000339449:p.Asp241Glu					WDR16_uc002glz.2_Missense_Mutation_p.D173E|WDR16_uc010coc.2_Missense_Mutation_p.D251E	p.D241E	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			6	792	+			241						Missense_Mutation	SNP	ENST00000352665.5	37	c.723T>A	CCDS11149.2	.	.	.	.	.	.	.	.	.	.	T	0.018	-1.474982	0.01035	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;D;T	0.89746	2.6;-2.56;5.07	5.77	-4.76	0.03229	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.218323	0.56097	D	0.000031	T	0.77336	0.4115	L	0.46157	1.445	0.09310	N	0.999998	B;B;B	0.17465	0.012;0.022;0.007	B;B;B	0.16289	0.015;0.015;0.007	T	0.65150	-0.6238	10	0.05833	T	0.94	-31.8589	8.4142	0.32662	0.1055:0.3198:0.0:0.5746	.	251;173;241	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	E	241;173;251	ENSP00000339449:D241E;ENSP00000379521:D173E;ENSP00000299764:D251E	ENSP00000299764:D251E	D	+	3	2	WDR16	9444195	0.240000	0.23847	0.162000	0.22713	0.021000	0.10359	-0.145000	0.10265	-0.765000	0.04645	-1.260000	0.01463	GAT		0.453	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316569.2	NM_145054		17	143	0	0	0	0.00499	0	17	143				
KIAA0100	9703	broad.mit.edu	37	17	26961560	26961560	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:26961560G>A	ENST00000528896.2	-	16	3119	c.3045C>T	c.(3043-3045)ctC>ctT	p.L1015L	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Silent_p.L872L|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.L872L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1015						extracellular region (GO:0005576)		p.L1015L(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CATTGCACTTGAGCATTCGAC	0.498																																							uc002hbu.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(3043-3045)CTC>CTT		hypothetical protein LOC9703 precursor							85.0	81.0	82.0					17																	26961560		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26961560G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.3045C>T	17.37:g.26961560G>A							p.L1015L	NM_014680	NP_055495	Q14667	K0100_HUMAN			16	3144	-	Lung NSC(42;0.00431)		1015					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.3045C>T	CCDS32595.1																																																																																				0.498	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		5	85	0	0	0	0.001168	0	5	85				
EFCAB5	374786	broad.mit.edu	37	17	28405416	28405416	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:28405416G>T	ENST00000394835.3	+	15	3113	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Missense_Mutation_p.R850M	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	974							calcium ion binding (GO:0005509)	p.R974M(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGAGTCTGAGGAATTCTGCC	0.493																																							uc002het.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2920-2922)AGG>ATG		EF-hand calcium binding domain 5 isoform a							100.0	98.0	99.0					17																	28405416		1906	4125	6031	SO:0001583	missense	374786						calcium ion binding	g.chr17:28405416G>T	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2921G>T	17.37:g.28405416G>T	ENSP00000378312:p.Arg974Met					EFCAB5_uc010cse.2_Missense_Mutation_p.R729M|EFCAB5_uc010csf.2_Intron	p.R974M	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN			15	3113	+			974					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	c.2921G>T	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011687	0.35511	.	.	ENSG00000176927	ENST00000394835;ENST00000320856;ENST00000419434	T;T;T	0.19669	2.13;2.23;2.22	4.89	4.89	0.63831	GAF (1);	0.133516	0.34245	N	0.004131	T	0.41903	0.1179	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.98	T	0.33879	-0.9851	10	0.87932	D	0	-9.9317	8.6787	0.34196	0.1098:0.0:0.8902:0.0	.	850;974	E7EVS9;A4FU69	.;EFCB5_HUMAN	M	974;850;656	ENSP00000378312:R974M;ENSP00000322003:R850M;ENSP00000417009:R656M	ENSP00000322003:R850M	R	+	2	0	EFCAB5	25429542	1.000000	0.71417	0.997000	0.53966	0.374000	0.29953	3.932000	0.56537	2.274000	0.75844	0.655000	0.94253	AGG		0.493	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	NM_198529		23	80	1	0	1.1804e-14	0.003954	1.64788e-14	23	80				
NF1	4763	broad.mit.edu	37	17	29559717	29559717	+	Splice_Site	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:29559717G>T	ENST00000358273.4	+	26	3697		c.e26-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTATTTCTCAGATACTTCACA	0.418			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		14	Whole gene deletion(8)|Unknown(6)	p.?(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(2)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.e26-1		neurofibromin isoform 1							74.0	67.0	69.0					17																	29559717		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29559717G>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3315-1G>T	17.37:g.29559717G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Splice_Site_p.K1105_splice|NF1_uc010csn.1_Splice_Site_p.K965_splice|NF1_uc002hgi.1_Splice_Site_p.K138_splice	p.K1105_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	26	3648	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.3315_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699017	0.68501	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3512	0.87324	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26583843	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.405000	0.97313	2.542000	0.85734	0.555000	0.69702	.		0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	17	27	1	0	9.16793e-09	0.00499	1.19324e-08	17	27				
IKZF3	22806	broad.mit.edu	37	17	37985700	37985700	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:37985700G>C	ENST00000346872.3	-	3	164	c.103C>G	c.(103-105)Cat>Gat	p.H35D	IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000377945.3_Missense_Mutation_p.H35D|IKZF3_ENST00000351680.3_Missense_Mutation_p.H35D|IKZF3_ENST00000346243.3_Missense_Mutation_p.H35D|IKZF3_ENST00000350532.3_Missense_Mutation_p.H35D|IKZF3_ENST00000377958.2_Missense_Mutation_p.H35D|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.H35D|IKZF3_ENST00000467757.1_Missense_Mutation_p.H35D|IKZF3_ENST00000377944.3_Missense_Mutation_p.H35D|IKZF3_ENST00000377952.2_Missense_Mutation_p.H35D|IKZF3_ENST00000394189.2_Missense_Mutation_p.H35D	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	35					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H35D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCATTTCATGAGATTTGGTT	0.378																																							uc002hsu.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|kidney(2)|skin(2)	6						c.(103-105)CAT>GAT		aiolos isoform 1							165.0	134.0	145.0					17																	37985700		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37985700G>C	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.103C>G	17.37:g.37985700G>C	ENSP00000344544:p.His35Asp					IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Missense_Mutation_p.H35D|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Missense_Mutation_p.H35D|IKZF3_uc010cwf.2_Missense_Mutation_p.H35D|IKZF3_uc010cwg.2_Missense_Mutation_p.H35D|IKZF3_uc002hsw.2_Missense_Mutation_p.H35D|IKZF3_uc002hsx.2_Missense_Mutation_p.H35D|IKZF3_uc002hsy.2_Missense_Mutation_p.H35D|IKZF3_uc002hsz.2_Missense_Mutation_p.H35D|IKZF3_uc002hta.2_Missense_Mutation_p.H35D|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.H35D|IKZF3_uc002htc.2_5'UTR	p.H35D	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		3	165	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		35					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.103C>G	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.850719	0.51270	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.08807	3.47;3.55;3.5;3.26;3.05;3.72;3.48;3.49;3.41;4.42	5.41	5.41	0.78517	.	0.758088	0.11646	N	0.543234	T	0.17066	0.0410	N	0.24115	0.695	0.25692	N	0.985674	P;B;B;B;B;B;D;B;B;B;B	0.57899	0.935;0.027;0.065;0.027;0.065;0.185;0.981;0.225;0.332;0.332;0.224	D;B;B;B;B;B;P;B;B;B;B	0.63381	0.914;0.025;0.04;0.025;0.04;0.055;0.727;0.076;0.137;0.076;0.035	T	0.21690	-1.0238	10	0.87932	D	0	-2.3907	14.6924	0.69096	0.0:0.0:1.0:0.0	.	35;35;35;35;35;35;35;35;35;35;35	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9	.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	D	35	ENSP00000344544:H35D;ENSP00000367180:H35D;ENSP00000377741:H35D;ENSP00000367179:H35D;ENSP00000367194:H35D;ENSP00000367188:H35D;ENSP00000345622:H35D;ENSP00000341977:H35D;ENSP00000344471:H35D;ENSP00000420463:H35D	ENSP00000341977:H35D	H	-	1	0	IKZF3	35239226	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.467000	0.53078	2.537000	0.85549	0.557000	0.71058	CAT		0.378	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		11	124	0	0	0	0.001368	0	11	124				
KIF2B	84643	broad.mit.edu	37	17	51901154	51901154	+	Missense_Mutation	SNP	G	G	T	rs142732898	byFrequency	TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:51901154G>T	ENST00000268919.4	+	1	916	c.760G>T	c.(760-762)Gac>Tac	p.D254Y		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	254	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D254Y(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCAAAAGGTGGACCTCACTCG	0.547													G|||	5	0.000998403	0.0038	0.0	5008	,	,		20188	0.0		0.0	False		,,,				2504	0.0						uc002iua.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)	8						c.(760-762)GAC>TAC		kinesin family member 2B		G	TYR/ASP	16,4390	24.3+/-50.5	0,16,2187	140.0	114.0	123.0		760	5.5	1.0	17	dbSNP_134	123	0,8600		0,0,4300	yes	missense	KIF2B	NM_032559.4	160	0,16,6487	TT,TG,GG		0.0,0.3631,0.123	probably-damaging	254/674	51901154	16,12990	2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901154G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.760G>T	17.37:g.51901154G>T	ENSP00000268919:p.Asp254Tyr					uc010wna.1_Intron	p.D254Y	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	916	+			254			Kinesin-motor.		Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.760G>T	CCDS32685.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	18.60	3.657983	0.67586	0.003631	0.0	ENSG00000141200	ENST00000268919	T	0.75477	-0.94	5.52	5.52	0.82312	Kinesin, motor domain (4);	0.000000	0.53938	D	0.000053	D	0.89536	0.6743	M	0.91972	3.26	0.44117	D	0.996899	D	0.89917	1.0	D	0.87578	0.998	D	0.91299	0.5065	10	0.87932	D	0	.	18.7791	0.91924	0.0:0.0:1.0:0.0	.	254	Q8N4N8	KIF2B_HUMAN	Y	254	ENSP00000268919:D254Y	ENSP00000268919:D254Y	D	+	1	0	KIF2B	49256153	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.908000	0.87438	2.739000	0.93911	0.655000	0.94253	GAC		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		15	30	1	0	6.94344e-10	0.006122	9.20714e-10	15	30				
RNF43	54894	broad.mit.edu	37	17	56434870	56434870	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:56434870G>A	ENST00000584437.1	-	8	4222	c.2267C>T	c.(2266-2268)cCa>cTa	p.P756L	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000583753.1_Missense_Mutation_p.P715L|RNF43_ENST00000581868.1_Missense_Mutation_p.P629L|RNF43_ENST00000407977.2_Missense_Mutation_p.P756L|RNF43_ENST00000500597.2_Missense_Mutation_p.P715L|RNF43_ENST00000577625.1_Missense_Mutation_p.P629L|RNF43_ENST00000577716.1_Missense_Mutation_p.P756L			Q68DV7	RNF43_HUMAN	ring finger protein 43	756	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P756L(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATAAGGGCATGGCCTGCCCTC	0.597																																							uc002iwf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2266-2268)CCA>CTA		ring finger protein 43 precursor							75.0	72.0	73.0					17																	56434870		2203	4300	6503	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56434870G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.2267C>T	17.37:g.56434870G>A	ENSP00000463069:p.Pro756Leu					RNF43_uc010wnv.1_Missense_Mutation_p.P715L|RNF43_uc002iwh.3_Missense_Mutation_p.P756L|RNF43_uc002iwg.3_Missense_Mutation_p.P756L|RNF43_uc010dcw.2_Missense_Mutation_p.P629L	p.P756L	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	4223	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		756			Pro-rich.|Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.2267C>T	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334578	0.24253	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.08193	3.27;3.12	5.71	4.72	0.59763	.	0.669578	0.13224	N	0.404172	T	0.06050	0.0157	N	0.12182	0.205	0.29320	N	0.867426	B;B;B	0.33238	0.062;0.403;0.089	B;B;B	0.30782	0.037;0.12;0.027	T	0.17653	-1.0362	10	0.72032	D	0.01	-7.8247	12.3669	0.55234	0.0:0.177:0.8229:0.0	.	715;756;756	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	756;715	ENSP00000385328:P756L;ENSP00000441969:P715L	ENSP00000385328:P756L	P	-	2	0	RNF43	53789869	0.150000	0.22732	0.972000	0.41901	0.222000	0.24845	2.906000	0.48735	1.377000	0.46286	0.511000	0.50034	CCA		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		7	55	0	0	0	0.001984	0	7	55				
TBX4	9496	broad.mit.edu	37	17	59560581	59560581	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr17:59560581G>A	ENST00000240335.1	+	8	1387	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Missense_Mutation_p.A449T	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	448					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A448T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCACTTCACCGCCACCACCAT	0.592																																							uc002izi.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1342-1344)GCC>ACC		T-box 4							95.0	87.0	90.0					17																	59560581		2203	4300	6503	SO:0001583	missense	9496				leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:59560581G>A	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1342G>A	17.37:g.59560581G>A	ENSP00000240335:p.Ala448Thr					TBX4_uc010ddo.2_Missense_Mutation_p.A449T|TBX4_uc010woy.1_Missense_Mutation_p.A449T	p.A448T	NM_018488	NP_060958	P57082	TBX4_HUMAN			8	1387	+			448					A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	ENST00000240335.1	37	c.1342G>A	CCDS11629.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.037998	0.54896	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.43294	0.95;0.95	5.34	4.38	0.52667	.	2.002290	0.01632	N	0.023595	T	0.42359	0.1199	L	0.51422	1.61	0.34024	D	0.652968	B;B	0.14438	0.01;0.005	B;B	0.09377	0.004;0.003	T	0.25187	-1.0139	9	.	.	.	.	9.3255	0.37990	0.1623:0.0:0.8377:0.0	.	449;448	A5PKU7;P57082	.;TBX4_HUMAN	T	449;448	ENSP00000377435:A449T;ENSP00000240335:A448T	.	A	+	1	0	TBX4	56915363	0.973000	0.33851	0.985000	0.45067	0.961000	0.63080	1.737000	0.38197	1.255000	0.44051	0.655000	0.94253	GCC		0.592	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449649.1	NM_018488		6	62	0	0	0	0.00308	0	6	62				
POTEC	388468	broad.mit.edu	37	18	14542921	14542921	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr18:14542921G>T	ENST00000358970.5	-	1	224	c.225C>A	c.(223-225)agC>agA	p.S75R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567																																							uc010dln.2		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)	skin(3)	3						c.(223-225)AGC>AGA		ANKRD26-like family B, member 2							43.0	53.0	50.0					18																	14542921		692	1591	2283	SO:0001583	missense	388468							g.chr18:14542921G>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.225C>A	18.37:g.14542921G>T	ENSP00000351856:p.Ser75Arg					POTEC_uc010xaj.1_RNA	p.S75R	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	679	-			75						Missense_Mutation	SNP	ENST00000358970.5	37	c.225C>A	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	1.765	-0.485803	0.04352	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.37058	1.22	0.429	-0.857	0.10693	.	.	.	.	.	T	0.26484	0.0647	L	0.46157	1.445	0.09310	N	1	B	0.13594	0.008	B	0.10450	0.005	T	0.26258	-1.0108	8	0.54805	T	0.06	.	.	.	.	.	75	B2RU33	POTEC_HUMAN	R	75	ENSP00000351856:S75R	ENSP00000351856:S75R	S	-	3	2	POTEC	14532921	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.687000	0.05156	-0.763000	0.04658	-1.176000	0.01726	AGC		0.567	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		10	218	1	0	1.58986e-06	0.008291	1.91055e-06	10	218				
RIT2	6014	broad.mit.edu	37	18	40503602	40503602	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr18:40503602G>T	ENST00000326695.5	-	4	532	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	RIT2_ENST00000589109.1_Missense_Mutation_p.R121S|RIT2_ENST00000282028.4_Missense_Mutation_p.R121S|RIT2_ENST00000590910.1_Silent_p.S141S	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	121					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAGGTGTGGCGGACCTGAAAA	0.488																																							uc002lav.2		NA																	0				ovary(1)	1						c.(361-363)CGC>AGC		Ras-like without CAAX 2							207.0	208.0	208.0					18																	40503602		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40503602G>T	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.361C>A	18.37:g.40503602G>T	ENSP00000321805:p.Arg121Ser					RIT2_uc010dnf.2_Missense_Mutation_p.R121S	p.R121S	NM_002930	NP_002921	Q99578	RIT2_HUMAN			4	534	-			121					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.361C>A	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.299207	0.81025	.	.	ENSG00000152214	ENST00000326695;ENST00000282028	T;T	0.76060	-0.99;-0.99	5.45	3.6	0.41247	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	T	0.78317	0.4264	L	0.28344	0.845	0.44677	D	0.997663	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.80339	-0.1424	10	0.87932	D	0	.	14.6246	0.68611	0.0:0.0:0.7334:0.2666	.	121;121	Q99578-2;Q99578	.;RIT2_HUMAN	S	121	ENSP00000321805:R121S;ENSP00000282028:R121S	ENSP00000282028:R121S	R	-	1	0	RIT2	38757600	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.737000	0.62066	0.734000	0.32515	0.655000	0.94253	CGC		0.488	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1	NM_002930		27	263	1	0	2.41591e-17	0.004656	3.44084e-17	27	263				
MIER2	54531	broad.mit.edu	37	19	334524	334524	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:334524C>A	ENST00000264819.4	-	3	129	c.119G>T	c.(118-120)gGa>gTa	p.G40V	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	40					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.G40V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CTGATGGTCTCCAGAGCCCAT	0.607																																							uc002lok.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(118-120)GGA>GTA		mesoderm induction early response 1, family							94.0	85.0	88.0					19																	334524		2203	4300	6503	SO:0001583	missense	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:334524C>A	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.119G>T	19.37:g.334524C>A	ENSP00000264819:p.Gly40Val						p.G40V	NM_017550	NP_060020	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	128	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	40					Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	c.119G>T	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.059530	0.36373	.	.	ENSG00000105556	ENST00000264819	T	0.13538	2.58	4.83	2.42	0.29668	.	0.368838	0.18857	N	0.129222	T	0.07279	0.0184	N	0.08118	0	0.39915	D	0.97407	B	0.20887	0.049	B	0.19666	0.026	T	0.20405	-1.0276	10	0.59425	D	0.04	-4.9785	9.7921	0.40713	0.0:0.1551:0.6934:0.1515	.	40	Q8N344	MIER2_HUMAN	V	40	ENSP00000264819:G40V	ENSP00000264819:G40V	G	-	2	0	MIER2	285524	0.979000	0.34478	0.985000	0.45067	0.975000	0.68041	1.773000	0.38563	1.019000	0.39547	0.467000	0.42956	GGA		0.607	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		8	42	1	0	5.18039e-06	0.00308	6.10392e-06	8	42				
MATK	4145	broad.mit.edu	37	19	3778291	3778291	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:3778291G>A	ENST00000310132.6	-	14	1812	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C	MATK_ENST00000395040.2_Missense_Mutation_p.R431C|MATK_ENST00000585778.1_Missense_Mutation_p.R471C|MATK_ENST00000395045.2_Missense_Mutation_p.R473C	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	472	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703). {ECO:0000305}.	cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.R473C(1)|p.R472C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGTTTGCGGAAGGGTGGC	0.716																																							uc002lyt.2		NA																	2	Substitution - Missense(2)		lung(2)	stomach(2)|ovary(1)|lung(1)|large_intestine(1)	5						c.(1414-1416)CGC>TGC		megakaryocyte-associated tyrosine kinase isoform							18.0	21.0	20.0					19																	3778291		2186	4264	6450	SO:0001583	missense	4145				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:3778291G>A	L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.1414C>T	19.37:g.3778291G>A	ENSP00000308734:p.Arg472Cys					MATK_uc002lyv.2_Missense_Mutation_p.R473C|MATK_uc002lyu.2_Missense_Mutation_p.R431C|MATK_uc010dtq.2_Missense_Mutation_p.R471C	p.R472C	NM_139355	NP_647612	P42679	MATK_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1814	-		Hepatocellular(1079;0.137)	472	ARRPPFRKLAEKLARELRSAGAPASVSGQDADGSTSPRSQE P -> PAGHPSANWPRSWPGSYAVQVPQPPSQGRTPTVHLA PKPGALTPPGGPWPQRTERVESAAWGH (in Ref. 1; AAA16703).		Protein kinase.		B3KNZ9|Q9NST8	Missense_Mutation	SNP	ENST00000310132.6	37	c.1414C>T	CCDS12114.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213055	0.39102	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	D;D;D	0.83335	-1.71;-1.71;-1.71	3.68	1.34	0.21922	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.529435	0.18193	N	0.148746	D	0.85669	0.5750	M	0.70275	2.135	0.38193	D	0.939959	D;D;D	0.89917	0.999;1.0;0.999	P;P;P	0.60609	0.877;0.825;0.877	D	0.84433	0.0578	10	0.87932	D	0	-27.0548	4.4539	0.11633	0.1271:0.0:0.4618:0.4111	.	472;473;472	F1T0G6;B3KNZ9;P42679	.;.;MATK_HUMAN	C	473;472;431	ENSP00000378485:R473C;ENSP00000308734:R472C;ENSP00000378481:R431C	ENSP00000308734:R472C	R	-	1	0	MATK	3729291	1.000000	0.71417	0.023000	0.16930	0.029000	0.11900	4.736000	0.62059	0.742000	0.32697	0.561000	0.74099	CGC		0.716	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453639.1	NM_139355		9	33	0	0	0	0.008291	0	9	33				
EMR1	2015	broad.mit.edu	37	19	6937293	6937293	+	Silent	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:6937293G>T	ENST00000312053.4	+	19	2458	c.2421G>T	c.(2419-2421)ctG>ctT	p.L807L	EMR1_ENST00000381407.5_Silent_p.L666L|EMR1_ENST00000250572.8_Silent_p.L742L|EMR1_ENST00000450315.3_Silent_p.L630L|EMR1_ENST00000381404.4_Silent_p.L788L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	807					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.L807L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTCATCCTGGGCTGCTCCT	0.552																																							uc002mfw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(2419-2421)CTG>CTT		egf-like module containing, mucin-like, hormone							138.0	130.0	133.0					19																	6937293		2203	4300	6503	SO:0001819	synonymous_variant	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6937293G>T	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2421G>T	19.37:g.6937293G>T						EMR1_uc010dvc.2_Silent_p.L742L|EMR1_uc010dvb.2_Silent_p.L788L|EMR1_uc010xji.1_Silent_p.L666L|EMR1_uc010xjj.1_Silent_p.L630L	p.L807L	NM_001974	NP_001965	Q14246	EMR1_HUMAN			19	2459	+	all_hematologic(4;0.166)		807			Helical; Name=6; (Potential).		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	37	c.2421G>T	CCDS12175.1																																																																																				0.552	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			9	103	1	0	1.76689e-08	0.006214	2.27172e-08	9	103				
MUC16	94025	broad.mit.edu	37	19	8976428	8976428	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:8976428C>G	ENST00000397910.4	-	75	42603	c.42400G>C	c.(42400-42402)Gag>Cag	p.E14134Q	MUC16_ENST00000380951.5_Missense_Mutation_p.E775Q|MUC16_ENST00000596956.1_Intron	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14165	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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)		p.E14134Q(1)		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						CCATCCTTCTCAGGCCTGGGG	0.617																																							uc002mkp.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(42400-42402)GAG>CAG		mucin 16							30.0	30.0	30.0					19																	8976428		1939	4147	6086	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976428C>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.42400G>C	19.37:g.8976428C>G	ENSP00000381008:p.Glu14134Gln					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E934Q|MUC16_uc010xki.1_Intron	p.E14134Q	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			75	42604	-			14165	Missing (in Ref. 3; AAK74120).		SEA 14.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42400G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.582	1.123893	0.20959	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.36878	1.23;1.23	4.07	0.713	0.18173	SEA (1);	1.478880	0.04787	N	0.430999	T	0.58977	0.2160	M	0.86178	2.8	.	.	.	P;D	0.56287	0.77;0.975	P;D	0.71656	0.583;0.974	T	0.47911	-0.9080	9	0.19590	T	0.45	.	5.7663	0.18229	0.0:0.6386:0.0:0.3614	.	21779;14134	Q8WXI7;B5ME49	MUC16_HUMAN;.	Q	14134;775	ENSP00000381008:E14134Q;ENSP00000370338:E775Q	ENSP00000370338:E775Q	E	-	1	0	MUC16	8837428	0.000000	0.05858	0.882000	0.34594	0.122000	0.20287	0.021000	0.13489	0.130000	0.18549	0.558000	0.71614	GAG		0.617	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	21	0	0	0	0.004672	0	3	21				
OLFM2	93145	broad.mit.edu	37	19	9968409	9968409	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:9968409G>A	ENST00000264833.4	-	3	527	c.342C>T	c.(340-342)ctC>ctT	p.L114L	OLFM2_ENST00000590841.1_Silent_p.L36L	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	114					protein secretion (GO:0009306)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular region (GO:0005576)|synapse (GO:0045202)		p.L114L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCTTGGCCGAGAGGGACCCAT	0.572																																							uc002mmp.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(340-342)CTC>CTT		olfactomedin 2 precursor							39.0	43.0	41.0					19																	9968409		2203	4300	6503	SO:0001819	synonymous_variant	93145					extracellular region		g.chr19:9968409G>A	AF131839	CCDS12221.1	19p13.2	2008-07-03				ENSG00000105088			17189	protein-coding gene	gene with protein product	"""noelin 2"""						Standard	NM_058164		Approved	OlfC, NOE2	uc002mmp.3	O95897		ENST00000264833.4:c.342C>T	19.37:g.9968409G>A						OLFM2_uc002mmo.2_Silent_p.L36L	p.L114L	NM_058164	NP_477512	O95897	NOE2_HUMAN			3	370	-			114					Q6IMJ3|Q96FC2	Silent	SNP	ENST00000264833.4	37	c.342C>T	CCDS12221.1																																																																																				0.572	OLFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451119.1			10	35	0	0	0	0.010729	0	10	35				
ZNF439	90594	broad.mit.edu	37	19	11978433	11978433	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:11978433G>C	ENST00000304030.2	+	3	749	c.549G>C	c.(547-549)aaG>aaC	p.K183N	ZNF439_ENST00000455282.1_Missense_Mutation_p.K47N|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K183N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						ACACTGGAAAGAAACCCTATG	0.403																																							uc002mss.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(547-549)AAG>AAC		zinc finger protein 439							127.0	126.0	126.0					19																	11978433		2203	4300	6503	SO:0001583	missense	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978433G>C	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.549G>C	19.37:g.11978433G>C	ENSP00000305077:p.Lys183Asn					ZNF439_uc002msr.2_Missense_Mutation_p.K47N	p.K183N	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	677	+			183					Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	c.549G>C	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	6.295	0.422573	0.11928	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	T;T	0.20069	2.1;2.1	0.575	0.575	0.17374	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23370	0.0565	L	0.49571	1.57	0.09310	N	1	B	0.24317	0.101	B	0.35770	0.21	T	0.40887	-0.9539	9	0.72032	D	0.01	.	8.6675	0.34130	0.0:0.0:1.0:0.0	.	183	Q8NDP4	ZN439_HUMAN	N	47;183	ENSP00000395632:K47N;ENSP00000305077:K183N	ENSP00000305077:K183N	K	+	3	2	ZNF439	11839433	0.000000	0.05858	0.026000	0.17262	0.067000	0.16453	-0.787000	0.04618	0.577000	0.29470	0.194000	0.17425	AAG		0.403	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			16	161	0	0	0	0.00499	0	16	161				
CYP4F3	4051	broad.mit.edu	37	19	15769201	15769201	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:15769201C>T	ENST00000221307.8	+	10	1290	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	CYP4F3_ENST00000585846.1_Missense_Mutation_p.P415S|CYP4F3_ENST00000591058.1_Missense_Mutation_p.P415S|CYP4F3_ENST00000586182.2_Missense_Mutation_p.P415S	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	415					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)	p.P415S(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCGGGTCATCCCCAAAGGTGC	0.642																																							uc002nbj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1243-1245)CCC>TCC		cytochrome P450, family 4, subfamily F,							58.0	62.0	61.0					19																	15769201		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769201C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1243C>T	19.37:g.15769201C>T	ENSP00000221307:p.Pro415Ser					CYP4F3_uc010xok.1_Missense_Mutation_p.P415S|CYP4F3_uc010xol.1_Missense_Mutation_p.P415S|CYP4F3_uc010xom.1_Missense_Mutation_p.P266S|CYP4F3_uc002nbk.2_Missense_Mutation_p.P415S|CYP4F3_uc010xon.1_Missense_Mutation_p.P125S	p.P415S	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			10	1293	+			415					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.1243C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	22.7	4.321883	0.81580	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	D	0.86694	-2.16	4.53	4.53	0.55603	.	0.082057	0.49305	U	0.000142	D	0.95430	0.8516	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.96704	0.9520	10	0.66056	D	0.02	.	14.7638	0.69623	0.0:1.0:0.0:0.0	.	125;415;415	B7Z8I6;B7Z8Z3;Q08477	.;.;CP4F3_HUMAN	S	342;415	ENSP00000221307:P415S	ENSP00000221307:P415S	P	+	1	0	CYP4F3	15630201	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	5.447000	0.66606	2.068000	0.61886	0.305000	0.20034	CCC		0.642	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		5	44	0	0	0	0.001984	0	5	44				
KIAA1683	80726	broad.mit.edu	37	19	18376264	18376264	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:18376264G>A	ENST00000600328.3	-	3	2279	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	KIAA1683_ENST00000392413.4_Silent_p.L696L|KIAA1683_ENST00000600359.3_Silent_p.L650L			Q9H0B3	K1683_HUMAN	KIAA1683	696						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L696L(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TCAGTGGGCAGATGTCCCTGA	0.617																																							uc002nin.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(2086-2088)CTG>TTG		KIAA1683 isoform b							63.0	60.0	61.0					19																	18376264		2203	4300	6503	SO:0001819	synonymous_variant	80726					mitochondrion		g.chr19:18376264G>A	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2086C>T	19.37:g.18376264G>A						KIAA1683_uc010ebn.2_Silent_p.L696L|KIAA1683_uc010xqe.1_Silent_p.L650L	p.L696L	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN			3	2302	-			696					B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	37	c.2086C>T	CCDS32958.1																																																																																				0.617	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3			7	26	0	0	0	0.001984	0	7	26				
ZNF493	284443	broad.mit.edu	37	19	21606273	21606273	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:21606273G>A	ENST00000355504.4	+	2	694	c.428G>A	c.(427-429)gGc>gAc	p.G143D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.G271D	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G143D(1)|p.G271D(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAAGAATGTGGCACATCTTTC	0.343																																							uc002npx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(427-429)GGC>GAC		zinc finger protein 493 isoform 1							50.0	52.0	51.0					19																	21606273		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606273G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.428G>A	19.37:g.21606273G>A	ENSP00000347691:p.Gly143Asp					ZNF493_uc002npw.2_Missense_Mutation_p.G271D|ZNF493_uc002npy.2_Missense_Mutation_p.G143D	p.G143D	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	708	+			143			C2H2-type 5.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.428G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	8.157	0.788598	0.16258	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.58358	0.34;0.34	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61837	0.2379	L	0.49640	1.575	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.87578	0.726;0.998	T	0.60151	-0.7319	9	0.62326	D	0.03	.	8.6978	0.34307	0.0:0.0:1.0:0.0	.	143;271	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	271;143	ENSP00000376110:G271D;ENSP00000347691:G143D	ENSP00000347691:G143D	G	+	2	0	ZNF493	21398113	0.975000	0.34042	0.174000	0.22961	0.171000	0.22731	1.060000	0.30530	0.378000	0.24764	0.384000	0.25694	GGC		0.343	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		7	54	0	0	0	0.001984	0	7	54				
ZNF676	163223	broad.mit.edu	37	19	22364130	22364130	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:22364130C>G	ENST00000397121.2	-	3	706	c.389G>C	c.(388-390)aGa>aCa	p.R130T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	130					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R130T(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATCTTATGTCTGTTTGAATT	0.313																																							uc002nqs.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(388-390)AGA>ACA		zinc finger protein 676							131.0	126.0	127.0					19																	22364130		2005	4190	6195	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364130C>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.389G>C	19.37:g.22364130C>G	ENSP00000380310:p.Arg130Thr						p.R130T	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	707	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	130					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.389G>C	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	1.734	-0.493527	0.04322	.	.	ENSG00000196109	ENST00000397121	T	0.29397	1.57	0.601	-1.2	0.09554	.	.	.	.	.	T	0.25531	0.0621	M	0.66939	2.045	0.09310	N	1	B	0.18741	0.03	B	0.15052	0.012	T	0.28808	-1.0032	9	0.39692	T	0.17	.	2.472	0.04566	0.2358:0.2036:0.0:0.5606	.	130	Q8N7Q3	ZN676_HUMAN	T	130	ENSP00000380310:R130T	ENSP00000380310:R130T	R	-	2	0	ZNF676	22155970	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.944000	0.03913	-1.126000	0.02929	0.186000	0.17326	AGA		0.313	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		10	90	0	0	0	0.008291	0	10	90				
ZNF91	7644	broad.mit.edu	37	19	23545212	23545212	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:23545212G>A	ENST00000300619.7	-	4	774	c.569C>T	c.(568-570)tCa>tTa	p.S190L	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.S158L	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	190					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)	p.S190L(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GATGCAAAATGACTTGACACA	0.303																																							uc002nre.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(568-570)TCA>TTA		zinc finger protein 91							74.0	76.0	75.0					19																	23545212		2053	4240	6293	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23545212G>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.569C>T	19.37:g.23545212G>A	ENSP00000300619:p.Ser190Leu					ZNF91_uc010xrj.1_Missense_Mutation_p.S158L	p.S190L	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	682	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	190			C2H2-type 2.		A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.569C>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	4.914	0.169824	0.09339	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.16073	2.37;2.37	.	.	.	Zinc finger, C2H2 (1);	.	.	.	.	T	0.22126	0.0533	M	0.88842	2.985	0.20638	N	0.99988	B;B	0.15141	0.01;0.012	B;B	0.08055	0.003;0.003	T	0.29274	-1.0017	8	0.35671	T	0.21	.	4.1108	0.10058	1.0E-4:0.4526:0.5472:1.0E-4	.	158;190	Q05481-2;Q05481	.;ZNF91_HUMAN	L	190;158	ENSP00000300619:S190L;ENSP00000380272:S158L	ENSP00000300619:S190L	S	-	2	0	ZNF91	23337052	0.001000	0.12720	0.161000	0.22692	0.053000	0.15095	-1.297000	0.02759	0.448000	0.26722	0.064000	0.15345	TCA		0.303	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		8	48	0	0	0	0.00308	0	8	48				
PSG11	5680	broad.mit.edu	37	19	43523155	43523155	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:43523155C>A	ENST00000401740.1	-	3	579	c.476G>T	c.(475-477)aGg>aTg	p.R159M	PSG11_ENST00000403486.1_Missense_Mutation_p.R37M|PSG11_ENST00000320078.7_Missense_Mutation_p.R159M|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.R37M			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	159	Ig-like C2-type 1.				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)				CATGGCCTCCCTGGGGTTTAA	0.522																																							uc002ovm.1		NA																	0					0						c.(475-477)AGG>ATG		pregnancy specific beta-1-glycoprotein 11							200.0	204.0	203.0					19																	43523155		2199	4297	6496	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43523155C>A	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.476G>T	19.37:g.43523155C>A	ENSP00000384995:p.Arg159Met					PSG11_uc002ouw.2_Missense_Mutation_p.R165M|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.R165M|PSG11_uc002ovn.1_Missense_Mutation_p.R165M|PSG11_uc002ovo.1_Missense_Mutation_p.R37M|PSG11_uc002ovp.1_Missense_Mutation_p.R37M	p.R159M	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			3	583	-		Prostate(69;0.00682)	159			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.476G>T	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	4.302	0.055391	0.08291	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	1.13	-0.37	0.12530	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08537	0.0212	N	0.22421	0.69	0.09310	N	1	P;B	0.37398	0.593;0.416	B;B	0.39152	0.274;0.292	T	0.27536	-1.0071	9	0.42905	T	0.14	.	3.8106	0.08795	0.5892:0.4108:0.0:0.0	.	37;159	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	M	159;37;37;159	ENSP00000319140:R159M;ENSP00000385427:R37M;ENSP00000304913:R37M;ENSP00000384995:R159M	ENSP00000304913:R37M	R	-	2	0	PSG11	48214995	0.000000	0.05858	0.015000	0.15790	0.066000	0.16364	-1.625000	0.02036	-0.524000	0.06400	0.184000	0.17185	AGG		0.522	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		35	205	1	0	6.19805e-25	0.005524	9.00954e-25	35	205				
FOSB	2354	broad.mit.edu	37	19	45973886	45973886	+	Splice_Site	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:45973886G>A	ENST00000353609.3	+	2	718		c.e2-1		ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000417353.2_Splice_Site|FOSB_ENST00000585836.1_Intron|FOSB_ENST00000591858.1_Intron|FOSB_ENST00000590335.1_Splice_Site|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000592811.1_5'UTR|FOSB_ENST00000592436.1_Splice_Site|FOSB_ENST00000586615.1_5'UTR	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B						cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.?(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		tCACCCCGTAGGAGTGCGCCG	0.592																																							uc002pbx.3		NA																	1	Unknown(1)		lung(1)	ovary(2)|lung(1)	3						c.e2-1		FBJ murine osteosarcoma viral oncogene homolog B							107.0	111.0	110.0					19																	45973886		2203	4300	6503	SO:0001630	splice_region_variant	2354				behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr19:45973886G>A		CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.127-1G>A	19.37:g.45973886G>A						ERCC1_uc002pbu.1_Intron|FOSB_uc002pbw.2_Splice_Site_p.E43_splice|FOSB_uc010eke.2_Intron|FOSB_uc002pby.3_Splice_Site_p.E43_splice|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Splice_Site_p.E43_splice|FOSB_uc010ekc.1_Intron|FOSB_uc010ekf.2_Intron|FOSB_uc010ekd.1_Splice_Site_p.E43_splice|FOSB_uc010ekg.2_Intron|FOSB_uc002pca.3_5'UTR	p.E43_splice	NM_006732	NP_006723	P53539	FOSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)	2	719	+		Ovarian(192;0.051)|all_neural(266;0.112)						A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Splice_Site	SNP	ENST00000353609.3	37	c.127_splice	CCDS12664.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160810	0.57368	.	.	ENSG00000125740	ENST00000353609;ENST00000417353;ENST00000455928	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8155	0.57663	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FOSB	50665726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.266000	0.65525	2.405000	0.81733	0.561000	0.74099	.		0.592	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459561.1	NM_006732	Intron	23	111	0	0	0	0.003954	0	23	111				
VASP	7408	broad.mit.edu	37	19	46032614	46032614	+	IGR	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:46032614C>A	ENST00000245932.6	+	0	2305				OPA3_ENST00000323060.3_Silent_p.A81A	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein						actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|neural tube closure (GO:0001843)|positive regulation of actin filament polymerization (GO:0030838)|protein homotetramerization (GO:0051289)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	profilin binding (GO:0005522)	p.A81A(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCAGCAGCTCCGCGCCCAGCT	0.622																																							uc002pcj.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)GCG>GCT		OPA3 protein isoform a							73.0	77.0	75.0					19																	46032614		2201	4300	6501	SO:0001628	intergenic_variant	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46032614C>A		CCDS33051.1	19q13.32	2012-02-22			ENSG00000125753	ENSG00000125753			12652	protein-coding gene	gene with protein product		601703				8812448	Standard	XM_005259199		Approved		uc002pcg.3	P50552			19.37:g.46032614C>A							p.A81A	NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	343	-		Ovarian(192;0.051)|all_neural(266;0.112)	81					B2RBT9|Q6PIZ1|Q93035	Silent	SNP	ENST00000245932.6	37	c.243G>T	CCDS33051.1																																																																																				0.622	VASP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459589.1			13	102	1	0	0.000219431	0.00245	0.000244906	13	102				
NUCB1	4924	broad.mit.edu	37	19	49424449	49424449	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:49424449G>A	ENST00000405315.4	+	11	1375	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	NUCB1_ENST00000485798.1_3'UTR|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_Silent_p.L347L|NUCB1_ENST00000263273.5_Silent_p.L347L	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	347						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)	p.L347L(1)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AGGAAGAGCTGAGGCGCTTTG	0.662																																							uc002plb.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1039-1041)CTG>CTA		nucleobindin 1 precursor							34.0	33.0	34.0					19																	49424449		2203	4300	6503	SO:0001819	synonymous_variant	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49424449G>A	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1041G>A	19.37:g.49424449G>A						NUCB1_uc002pla.2_Silent_p.L347L|NUCB1_uc002plc.2_Silent_p.L347L|NUCB1_uc002pld.2_Silent_p.L10L	p.L347L	NM_006184	NP_006175	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	11	1113	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	347			Potential.		B2RD64|Q15838|Q7Z4J7|Q9BUR1	Silent	SNP	ENST00000405315.4	37	c.1041G>A	CCDS12740.1																																																																																				0.662	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		3	23	0	0	0	0.009096	0	3	23				
NLRP13	126204	broad.mit.edu	37	19	56413549	56413549	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:56413549C>A	ENST00000342929.3	-	9	2640	c.2641G>T	c.(2641-2643)Gca>Tca	p.A881S	NLRP13_ENST00000588751.1_Missense_Mutation_p.A881S	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	881							ATP binding (GO:0005524)	p.A881S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGCGGGTGCTGCCAGCTGG	0.582																																							uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2641-2643)GCA>TCA		NACHT, leucine rich repeat and PYD containing							66.0	52.0	57.0					19																	56413549		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56413549C>A	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2641G>T	19.37:g.56413549C>A	ENSP00000343891:p.Ala881Ser						p.A881S	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	9	2666	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	881					Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2641G>T	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	C	0.625	-0.819619	0.02776	.	.	ENSG00000173572	ENST00000342929	T	0.51071	0.72	2.52	-5.05	0.02955	.	.	.	.	.	T	0.18383	0.0441	N	0.11673	0.155	0.09310	N	1	B	0.21520	0.057	B	0.20384	0.029	T	0.21314	-1.0249	9	0.13470	T	0.59	.	1.3536	0.02177	0.152:0.2226:0.1512:0.4742	.	881	Q86W25	NAL13_HUMAN	S	881	ENSP00000343891:A881S	ENSP00000343891:A881S	A	-	1	0	NLRP13	61105361	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.642000	0.05427	-1.586000	0.01632	-0.373000	0.07131	GCA		0.582	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		9	23	1	0	1.58986e-06	0.008291	1.91055e-06	9	23				
NLRP8	126205	broad.mit.edu	37	19	56482063	56482063	+	Splice_Site	SNP	G	G	A	rs184147974	byFrequency	TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:56482063G>A	ENST00000291971.3	+	6	2605		c.e6+1		NLRP8_ENST00000590542.1_Splice_Site	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8						neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.?(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGAGGCTGTCGTAAGTCTCCT	0.468													G|||	4	0.000798722	0.0023	0.0	5008	,	,		17661	0.001		0.0	False		,,,				2504	0.0						uc002qmh.2		NA																	1	Unknown(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1)	13						c.e6+1		NLR family, pyrin domain containing 8							100.0	108.0	105.0					19																	56482063		2203	4300	6503	SO:0001630	splice_region_variant	126205					cytoplasm	ATP binding	g.chr19:56482063G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.2534+1G>A	19.37:g.56482063G>A						NLRP8_uc010etg.2_Splice_Site_p.S845_splice	p.S845_splice	NM_176811	NP_789781	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	6	2605	+		Colorectal(82;0.000147)|Ovarian(87;0.17)						Q7RTR4	Splice_Site	SNP	ENST00000291971.3	37	c.2534_splice	CCDS12937.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	4.588	0.109312	0.08780	.	.	ENSG00000179709	ENST00000291971	.	.	.	1.8	-0.525	0.11917	.	.	.	.	.	.	.	.	.	.	.	0.19945	N	0.999945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.9833	0.05960	0.1913:0.2942:0.5145:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP8	61173875	0.012000	0.17670	0.002000	0.10522	0.059000	0.15707	0.294000	0.19047	-0.058000	0.13177	0.411000	0.27672	.		0.468	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	Intron	11	129	0	0	0	0.010729	0	11	129				
USP29	57663	broad.mit.edu	37	19	57640047	57640047	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:57640047A>T	ENST00000254181.4	+	4	458	c.4A>T	c.(4-6)Ata>Tta	p.I2L	USP29_ENST00000598197.1_Missense_Mutation_p.I2L	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	2					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.I2L(1)		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)		AGAAAGGATGATATCTCTAAA	0.333																																							uc002qny.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(4-6)ATA>TTA		ubiquitin specific peptidase 29							39.0	40.0	40.0					19																	57640047		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.chr19:57640047A>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.4A>T	19.37:g.57640047A>T	ENSP00000254181:p.Ile2Leu						p.I2L	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	360	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	2						Missense_Mutation	SNP	ENST00000254181.4	37	c.4A>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	9.536	1.112233	0.20795	.	.	ENSG00000131864	ENST00000254181	T	0.46063	0.88	2.55	-2.6	0.06190	.	1.801560	0.03880	U	0.277036	T	0.26159	0.0638	N	0.22421	0.69	0.09310	N	1	B	0.24132	0.098	B	0.16289	0.015	T	0.15896	-1.0421	10	0.56958	D	0.05	0.0025	3.6325	0.08137	0.3091:0.0:0.458:0.2329	.	2	Q9HBJ7	UBP29_HUMAN	L	2	ENSP00000254181:I2L	ENSP00000254181:I2L	I	+	1	0	USP29	62331859	0.007000	0.16637	0.000000	0.03702	0.125000	0.20455	-0.543000	0.06084	-0.811000	0.04369	0.482000	0.46254	ATA		0.333	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			12	44	0	0	0	0.001368	0	12	44				
ZSCAN22	342945	broad.mit.edu	37	19	58849907	58849907	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:58849907A>G	ENST00000329665.4	+	3	838	c.691A>G	c.(691-693)Agt>Ggt	p.S231G		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	231					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S231G(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GAACAGTTCTAGTGCGTGGCC	0.522																																							uc002qsc.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(691-693)AGT>GGT		zinc finger and SCAN domain containing 22							164.0	172.0	170.0					19																	58849907		2203	4300	6503	SO:0001583	missense	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58849907A>G	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.691A>G	19.37:g.58849907A>G	ENSP00000332433:p.Ser231Gly					ZSCAN22_uc010yhz.1_Silent_p.L225L	p.S231G	NM_181846	NP_862829	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	838	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	231					Q15922|Q7Z3L8	Missense_Mutation	SNP	ENST00000329665.4	37	c.691A>G	CCDS12975.1	.	.	.	.	.	.	.	.	.	.	A	8.265	0.811967	0.16537	.	.	ENSG00000182318	ENST00000329665	T	0.08896	3.04	4.02	0.625	0.17665	.	.	.	.	.	T	0.04182	0.0116	N	0.14661	0.345	0.09310	N	1	B	0.19331	0.035	B	0.17433	0.018	T	0.46721	-0.9171	9	0.21014	T	0.42	.	4.5218	0.11962	0.6404:0.1666:0.193:0.0	.	231	P10073	ZSC22_HUMAN	G	231	ENSP00000332433:S231G	ENSP00000332433:S231G	S	+	1	0	ZSCAN22	63541719	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	0.046000	0.14035	-0.148000	0.11234	0.260000	0.18958	AGT		0.522	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		16	159	0	0	0	0.00499	0	16	159				
LBH	81606	broad.mit.edu	37	2	30480308	30480308	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:30480308G>T	ENST00000395323.3	+	3	347	c.139G>T	c.(139-141)Gac>Tac	p.D47Y	LBH_ENST00000467242.1_3'UTR|LBH_ENST00000401506.1_Missense_Mutation_p.D53Y|LBH_ENST00000406087.1_Missense_Mutation_p.R48I|LBH_ENST00000404397.1_Intron|LBH_ENST00000407930.2_Missense_Mutation_p.D30Y	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development	47					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D47Y(1)		endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					GATCTTCCCAGACCCGTCAGA	0.527																																							uc002rne.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(139-141)GAC>TAC		limb bud and heart development homolog							55.0	63.0	60.0					2																	30480308		2203	4300	6503	SO:0001583	missense	81606				multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus		g.chr2:30480308G>T	AF110224	CCDS33173.1	2p23.1	2012-12-07	2012-12-07		ENSG00000213626	ENSG00000213626			29532	protein-coding gene	gene with protein product		611763	"""limb bud and heart development homolog (mouse)"""			11230166, 11336496	Standard	NM_030915		Approved		uc002rne.2	Q53QV2	OTTHUMG00000152051	ENST00000395323.3:c.139G>T	2.37:g.30480308G>T	ENSP00000378733:p.Asp47Tyr						p.D47Y	NM_030915	NP_112177	Q53QV2	LBH_HUMAN			3	347	+	Acute lymphoblastic leukemia(172;0.155)		47					B2RBC2|Q9H0Q1	Missense_Mutation	SNP	ENST00000395323.3	37	c.139G>T	CCDS33173.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.039011|4.039011	0.75617|0.75617	.|.	.|.	ENSG00000213626|ENSG00000213626	ENST00000395323;ENST00000401506;ENST00000407930|ENST00000406087	.|.	.|.	.|.	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74427|0.74427	0.3715|0.3715	M|M	0.65498|0.65498	2.005|2.005	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.73380|.	0.98|.	T|T	0.78303|0.78303	-0.2256|-0.2256	9|6	0.87932|0.87932	D|D	0|0	-37.0532|-37.0532	16.8734|16.8734	0.86045|0.86045	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	47|.	Q53QV2|.	LBH_HUMAN|.	Y|I	47;53;30|48	.|.	ENSP00000378733:D47Y|ENSP00000385409:R48I	D|R	+|+	1|2	0|0	LBH|LBH	30333812|30333812	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.784000|0.784000	0.44337|0.44337	9.462000|9.462000	0.97649|0.97649	2.220000|2.220000	0.72140|0.72140	0.561000|0.561000	0.74099|0.74099	GAC|AGA		0.527	LBH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325091.1	NM_030915		7	50	1	0	1.6384e-10	0.001984	2.19317e-10	7	50				
DYSF	8291	broad.mit.edu	37	2	71795348	71795348	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:71795348C>A	ENST00000258104.3	+	26	2967	c.2690C>A	c.(2689-2691)aCg>aAg	p.T897K	DYSF_ENST00000409366.1_Missense_Mutation_p.T898K|DYSF_ENST00000409744.1_Missense_Mutation_p.T884K|DYSF_ENST00000409762.1_Missense_Mutation_p.T914K|DYSF_ENST00000410020.3_Missense_Mutation_p.T915K|DYSF_ENST00000409651.1_Missense_Mutation_p.T929K|DYSF_ENST00000429174.2_Missense_Mutation_p.T897K|DYSF_ENST00000409582.3_Missense_Mutation_p.T914K|DYSF_ENST00000413539.2_Missense_Mutation_p.T928K|DYSF_ENST00000410041.1_Missense_Mutation_p.T915K|DYSF_ENST00000394120.2_Missense_Mutation_p.T898K	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	897					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)	p.T897K(1)|p.T915K(1)		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						TGGGGCACAACGGGCCTCACC	0.607																																							uc002sie.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(2689-2691)ACG>AAG		dysferlin isoform 8							153.0	155.0	154.0					2																	71795348		2203	4300	6503	SO:0001583	missense	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71795348C>A	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.2690C>A	2.37:g.71795348C>A	ENSP00000258104:p.Thr897Lys					DYSF_uc010feg.2_Missense_Mutation_p.T928K|DYSF_uc010feh.2_Missense_Mutation_p.T883K|DYSF_uc002sig.3_Missense_Mutation_p.T883K|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.T897K|DYSF_uc010fef.2_Missense_Mutation_p.T914K|DYSF_uc010fei.2_Missense_Mutation_p.T914K|DYSF_uc010fek.2_Missense_Mutation_p.T915K|DYSF_uc010fej.2_Missense_Mutation_p.T884K|DYSF_uc010fel.2_Missense_Mutation_p.T884K|DYSF_uc010feo.2_Missense_Mutation_p.T929K|DYSF_uc010fem.2_Missense_Mutation_p.T898K|DYSF_uc010fen.2_Missense_Mutation_p.T915K|DYSF_uc002sif.2_Missense_Mutation_p.T898K	p.T897K	NM_003494	NP_003485	O75923	DYSF_HUMAN			26	3066	+			897			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	ENST00000258104.3	37	c.2690C>A	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212602	0.58452	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.82167	-1.57;-1.58;-1.58;-1.58;-1.58;-1.57;-1.58;-1.58;-1.58;-1.58;-1.58	4.94	3.84	0.44239	Ferlin/Peroxisome membrane (1);	0.171717	0.49305	D	0.000145	T	0.77246	0.4102	N	0.11341	0.13	0.32307	N	0.564206	D;D;D;D;P;P;P;B;D;B;B;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.87;0.87;0.87;0.196;0.99;0.338;0.214;0.99;0.99;0.983	D;D;D;D;P;P;P;B;D;B;B;D;D;P	0.63192	0.912;0.912;0.912;0.912;0.765;0.765;0.765;0.15;0.912;0.137;0.095;0.912;0.912;0.82	T	0.73430	-0.3985	10	0.11485	T	0.65	-17.2918	11.452	0.50158	0.0:0.8943:0.0:0.1057	.	929;915;898;884;915;884;914;883;928;914;897;883;898;897	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	K	928;914;914;897;897;929;898;884;898;915;915	ENSP00000407046:T928K;ENSP00000387137:T914K;ENSP00000386547:T914K;ENSP00000398305:T897K;ENSP00000258104:T897K;ENSP00000386683:T929K;ENSP00000377678:T898K;ENSP00000386285:T884K;ENSP00000386512:T898K;ENSP00000386881:T915K;ENSP00000386617:T915K	ENSP00000258104:T897K	T	+	2	0	DYSF	71648856	1.000000	0.71417	0.706000	0.30403	0.988000	0.76386	5.889000	0.69766	2.288000	0.76882	0.448000	0.29417	ACG		0.607	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		22	199	1	0	2.27731e-05	0.012319	2.61766e-05	22	199				
RANBP2	5903	broad.mit.edu	37	2	109367852	109367852	+	Nonsense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:109367852C>G	ENST00000283195.6	+	10	1532	c.1406C>G	c.(1405-1407)tCa>tGa	p.S469*		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	469					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S469*(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CATGAAACCTCAAGGCTTGAA	0.338																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - Nonsense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(1405-1407)TCA>TGA		RAN binding protein 2							63.0	71.0	68.0					2																	109367852		1510	2703	4213	SO:0001587	stop_gained	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367852C>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1406C>G	2.37:g.109367852C>G	ENSP00000283195:p.Ser469*						p.S469*	NM_006267	NP_006258	P49792	RBP2_HUMAN			10	1532	+			469					Q13074|Q15280|Q53TE2|Q59FH7	Nonsense_Mutation	SNP	ENST00000283195.6	37	c.1406C>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	39	7.626119	0.98396	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9167	19.2117	0.93758	0.0:1.0:0.0:0.0	.	.	.	.	X	469	.	ENSP00000283195:S469X	S	+	2	0	RANBP2	108734284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.380000	0.66202	2.602000	0.87976	0.650000	0.86243	TCA		0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		14	236	0	0	0	0.003163	0	14	236				
ACMSD	130013	broad.mit.edu	37	2	135619539	135619539	+	Splice_Site	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:135619539G>A	ENST00000356140.5	+	4	336	c.200G>A	c.(199-201)gGa>gAa	p.G67E	ACMSD_ENST00000392928.1_Intron|ACMSD_ENST00000283054.4_Intron|AC016725.4_ENST00000392929.2_RNA	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	67					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)	p.G67E(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		CCATGTCTAGGAGTAACAGTG	0.512																																							uc002ttz.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(199-201)GGA>GAA		aminocarboxymuconate semialdehyde decarboxylase							363.0	343.0	350.0					2																	135619539		2023	4198	6221	SO:0001630	splice_region_variant	130013				quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	g.chr2:135619539G>A	AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.200-1G>A	2.37:g.135619539G>A						ACMSD_uc002tua.2_Intron	p.G67E	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.115)	4	267	+			67					Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	c.200G>A	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785499	0.90282	.	.	ENSG00000153086	ENST00000356140	.	.	.	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	M	0.93638	3.44	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.89243	0.3585	8	.	.	.	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	67	Q8TDX5	ACMSD_HUMAN	E	67	.	.	G	+	2	0	ACMSD	135336009	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	9.012000	0.93624	2.840000	0.97914	0.655000	0.94253	GGA		0.512	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1		Missense_Mutation	21	214	0	0	0	0.00278	0	21	214				
LRP1B	53353	broad.mit.edu	37	2	141643712	141643712	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:141643712C>T	ENST00000389484.3	-	24	4930	c.3959G>A	c.(3958-3960)aGt>aAt	p.S1320N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1320					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S1320N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGTACCTCCACTTTCAGAAAG	0.279										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3958-3960)AGT>AAT		low density lipoprotein-related protein 1B							39.0	41.0	41.0					2																	141643712		2201	4296	6497	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643712C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3959G>A	2.37:g.141643712C>T	ENSP00000374135:p.Ser1320Asn	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.S502N	p.S1320N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	24	4931	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1320			Extracellular (Potential).|LDL-receptor class B 9.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3959G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.314442	0.23908	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.91011	-2.77;-2.77	5.16	4.26	0.50523	Six-bladed beta-propeller, TolB-like (1);	0.136270	0.47852	D	0.000219	T	0.80003	0.4544	N	0.13299	0.325	0.33434	D	0.58145	B;P	0.36282	0.002;0.546	B;B	0.32980	0.029;0.156	T	0.80324	-0.1430	10	0.10636	T	0.68	.	13.9737	0.64257	0.0:0.5255:0.4745:0.0	.	503;1320	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	N	1320;1258;465	ENSP00000374135:S1320N;ENSP00000413239:S465N	ENSP00000374135:S1320N	S	-	2	0	LRP1B	141360182	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.984000	0.40658	1.358000	0.45922	0.650000	0.86243	AGT		0.279	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	58	0	0	0	0.001168	0	6	58				
LRP1B	53353	broad.mit.edu	37	2	141643856	141643856	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:141643856C>T	ENST00000389484.3	-	24	4786	c.3815G>A	c.(3814-3816)aGg>aAg	p.R1272K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1272					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.R1272K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGATCAATCCTTCTGATCTC	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3814-3816)AGG>AAG		low density lipoprotein-related protein 1B							76.0	77.0	77.0					2																	141643856		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141643856C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3815G>A	2.37:g.141643856C>T	ENSP00000374135:p.Arg1272Lys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.R454K	p.R1272K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	24	4787	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1272			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3815G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783161	0.49891	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.91180	-2.8;-2.8	5.78	4.91	0.64330	Six-bladed beta-propeller, TolB-like (1);	0.067184	0.64402	D	0.000019	D	0.84822	0.5557	L	0.34521	1.04	0.44966	D	0.997982	B;B	0.16802	0.019;0.003	B;B	0.23852	0.049;0.004	T	0.78971	-0.1993	10	0.23891	T	0.37	.	11.561	0.50776	0.0:0.8463:0.0:0.1537	.	455;1272	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	K	1272;1210;417	ENSP00000374135:R1272K;ENSP00000413239:R417K	ENSP00000374135:R1272K	R	-	2	0	LRP1B	141360326	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	3.156000	0.50708	1.453000	0.47775	0.650000	0.86243	AGG		0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		13	68	0	0	0	0.001855	0	13	68				
LRP1B	53353	broad.mit.edu	37	2	141777540	141777540	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:141777540C>T	ENST00000389484.3	-	12	2892	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	641					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.E641K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTTCACCCTCTAAAAGAGTC	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(1921-1923)GAG>AAG		low density lipoprotein-related protein 1B							93.0	95.0	94.0					2																	141777540		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141777540C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1921G>A	2.37:g.141777540C>T	ENSP00000374135:p.Glu641Lys	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.E641K	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	12	2893	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	641			Extracellular (Potential).|LDL-receptor class B 6.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.1921G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364785	0.95877	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.93712	-3.27	5.33	5.33	0.75918	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.64402	U	0.000001	D	0.93507	0.7928	N	0.16368	0.405	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.92466	0.5981	10	0.27785	T	0.31	.	19.3667	0.94466	0.0:1.0:0.0:0.0	.	641	Q9NZR2	LRP1B_HUMAN	K	641;579	ENSP00000374135:E641K	ENSP00000374135:E641K	E	-	1	0	LRP1B	141494010	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.726000	0.84824	2.636000	0.89361	0.557000	0.71058	GAG		0.378	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		9	97	0	0	0	0.008291	0	9	97				
NEB	4703	broad.mit.edu	37	2	152500637	152500637	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:152500637A>G	ENST00000172853.10	-	57	7798	c.7651T>C	c.(7651-7653)Tac>Cac	p.Y2551H	NEB_ENST00000397345.3_Missense_Mutation_p.Y2551H|NEB_ENST00000603639.1_Missense_Mutation_p.Y2551H|NEB_ENST00000427231.2_Missense_Mutation_p.Y2551H|NEB_ENST00000604864.1_Missense_Mutation_p.Y2551H|NEB_ENST00000409198.1_Missense_Mutation_p.Y2551H			P20929	NEBU_HUMAN	nebulin	2551					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Y2551H(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTCCTTGTACTTGTACTAG	0.418																																							uc010fnx.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(7651-7653)TAC>CAC		nebulin isoform 3							180.0	171.0	174.0					2																	152500637		1873	4104	5977	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152500637A>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.7651T>C	2.37:g.152500637A>G	ENSP00000172853:p.Tyr2551His						p.Y2551H	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	57	7842	-			2551			Nebulin 68.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.7651T>C		.	.	.	.	.	.	.	.	.	.	A	15.48	2.846981	0.51164	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	D;D;D;D	0.99958	-9.03;-9.03;-9.03;-9.03	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.99959	0.9983	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95701	0.8749	10	0.87932	D	0	.	15.8164	0.78604	1.0:0.0:0.0:0.0	.	2551	P20929	NEBU_HUMAN	H	2551	ENSP00000386259:Y2551H;ENSP00000380505:Y2551H;ENSP00000416578:Y2551H;ENSP00000172853:Y2551H	ENSP00000172853:Y2551H	Y	-	1	0	NEB	152208883	1.000000	0.71417	0.997000	0.53966	0.056000	0.15407	9.281000	0.95811	2.138000	0.66242	0.455000	0.32223	TAC		0.418	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		33	178	0	0	0	0.004878	0	33	178				
UPP2	151531	broad.mit.edu	37	2	158971692	158971692	+	Missense_Mutation	SNP	C	C	A	rs372810681		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:158971692C>A	ENST00000005756.4	+	3	454	c.260C>A	c.(259-261)gCt>gAt	p.A87D	UPP2_ENST00000409859.4_Missense_Mutation_p.A144D|UPP2_ENST00000605860.1_Missense_Mutation_p.A144D|UPP2_ENST00000460456.1_Intron	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	87					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)	p.A87D(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TTTGAGGAAGCTGAAGAAGAC	0.443																																							uc002tzp.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(259-261)GCT>GAT		uridine phosphorylase 2 isoform a							102.0	103.0	102.0					2																	158971692		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158971692C>A	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.260C>A	2.37:g.158971692C>A	ENSP00000005756:p.Ala87Asp					UPP2_uc002tzo.2_Missense_Mutation_p.A144D	p.A87D	NM_173355	NP_775491	O95045	UPP2_HUMAN			3	454	+			87					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.260C>A	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	C	1.870	-0.460385	0.04508	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	T;T	0.38240	1.15;1.15	5.61	-4.43	0.03568	Nucleoside phosphorylase domain (1);	0.789976	0.12245	N	0.486109	T	0.13372	0.0324	N	0.03209	-0.39	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	10	0.33940	T	0.23	.	8.613	0.33815	0.528:0.3033:0.1688:0.0	.	87	O95045	UPP2_HUMAN	D	144;87	ENSP00000387230:A144D;ENSP00000005756:A87D	ENSP00000005756:A87D	A	+	2	0	UPP2	158679938	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.057000	0.11768	-0.746000	0.04766	-0.340000	0.08031	GCT		0.443	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		11	76	1	0	1.08611e-07	0.010729	1.36733e-07	11	76				
IFIH1	64135	broad.mit.edu	37	2	163134144	163134144	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:163134144C>T	ENST00000263642.2	-	10	2220	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	609				E -> K (in Ref. 2; AAG54076). {ECO:0000305}.	cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.E609K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGTAGGGCCTCATTGTACTTC	0.323																																							uc002uce.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1825-1827)GAG>AAG		interferon induced with helicase C domain 1							128.0	121.0	123.0					2																	163134144		2203	4298	6501	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134144C>T	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1825G>A	2.37:g.163134144C>T	ENSP00000263642:p.Glu609Lys						p.E609K	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			10	2047	-			609	E -> K (in Ref. 2; AAG54076).				Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.1825G>A	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954986	0.92726	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05199	3.48	5.66	5.66	0.87406	.	0.190528	0.56097	D	0.000038	T	0.20170	0.0485	M	0.62723	1.935	0.58432	D	0.999991	D	0.58620	0.983	P	0.55923	0.787	T	0.00033	-1.2272	10	0.72032	D	0.01	-23.7103	19.7554	0.96287	0.0:1.0:0.0:0.0	.	609	Q9BYX4	IFIH1_HUMAN	K	609	ENSP00000263642:E609K	ENSP00000263642:E609K	E	-	1	0	IFIH1	162842390	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.868000	0.69605	2.665000	0.90641	0.563000	0.77884	GAG		0.323	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		5	64	0	0	0	0.001168	0	5	64				
LRP2	4036	broad.mit.edu	37	2	170007439	170007439	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:170007439G>T	ENST00000263816.3	-	68	12844	c.12559C>A	c.(12559-12561)Cca>Aca	p.P4187T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4187					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)	p.P4187T(1)		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)"""	ATAGCAGCTGGTTGGTCCAGG	0.423																																							uc002ues.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12559-12561)CCA>ACA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						146.0	134.0	138.0					2																	170007439		2203	4300	6503	SO:0001583	missense	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.chr2:170007439G>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.12559C>A	2.37:g.170007439G>T	ENSP00000263816:p.Pro4187Thr						p.P4187T	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	68	12772	-			4187			Extracellular (Potential).|LDL-receptor class B 35.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12559C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165187	0.78339	.	.	ENSG00000081479	ENST00000263816	D	0.99567	-6.18	5.86	5.86	0.93980	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96819	0.9602	10	0.87932	D	0	.	20.1772	0.98182	0.0:0.0:1.0:0.0	.	4187	P98164	LRP2_HUMAN	T	4187	ENSP00000263816:P4187T	ENSP00000263816:P4187T	P	-	1	0	LRP2	169715685	1.000000	0.71417	1.000000	0.80357	0.398000	0.30690	9.592000	0.98245	2.778000	0.95560	0.655000	0.94253	CCA		0.423	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		12	79	1	0	3.07112e-06	0.010729	3.63889e-06	12	79				
NFE2L2	4780	broad.mit.edu	37	2	178098846	178098846	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:178098846C>T	ENST00000397062.3	-	2	753	c.199G>A	c.(199-201)Gag>Aag	p.E67K	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E51K|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E51K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E51K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E51K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	67					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|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)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAGGCTTTCTCTTGCTCCTTT	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																													uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		0				central_nervous_system(1)	1						c.(199-201)GAG>AAG		nuclear factor erythroid 2-like 2 isoform 1							160.0	156.0	157.0					2																	178098846		1884	4104	5988	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098846C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.199G>A	2.37:g.178098846C>T	ENSP00000380252:p.Glu67Lys	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E51K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E51K|NFE2L2_uc002uli.3_Missense_Mutation_p.E51K|NFE2L2_uc010fra.2_Missense_Mutation_p.E51K|NFE2L2_uc010frb.2_Missense_Mutation_p.E51K	p.E67K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	754	-			67					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.199G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.792838	0.90453	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32988	1.51;1.51;1.51;1.51;1.43;1.43;1.51	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.58165	-0.7684	10	0.34782	T	0.22	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	51;51;51;67	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	51;67;51;51;51;51;51	ENSP00000380253:E51K;ENSP00000380252:E67K;ENSP00000411575:E51K;ENSP00000391590:E51K;ENSP00000400073:E51K;ENSP00000412191:E51K;ENSP00000410015:E51K	ENSP00000380252:E67K	E	-	1	0	NFE2L2	177807092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.535000	0.67173	2.737000	0.93849	0.563000	0.77884	GAG		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		6	71	0	0	0	0.001984	0	6	71				
ZSWIM2	151112	broad.mit.edu	37	2	187703805	187703805	+	Missense_Mutation	SNP	G	G	T	rs375309570		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:187703805G>T	ENST00000295131.2	-	4	414	c.375C>A	c.(373-375)gaC>gaA	p.D125E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	125					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D125E(1)|p.D125D(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTTCATTTTCGTCATTTGTTC	0.403																																							uc002upu.1		NA																	2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|prostate(1)	ovary(2)|skin(1)	3						c.(373-375)GAC>GAA		zinc finger, SWIM domain containing 2							241.0	234.0	236.0					2																	187703805		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187703805G>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.375C>A	2.37:g.187703805G>T	ENSP00000295131:p.Asp125Glu						p.D125E	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		4	415	-			125					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.375C>A	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	G	2.855	-0.237436	0.05944	.	.	ENSG00000163012	ENST00000295131	T	0.23754	1.89	5.07	-10.1	0.00402	.	1.806220	0.02748	N	0.117071	T	0.12305	0.0299	N	0.21448	0.665	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.11060	-1.0603	10	0.19590	T	0.45	0.2779	4.242	0.10652	0.2274:0.1099:0.4745:0.1882	.	125	Q8NEG5	ZSWM2_HUMAN	E	125	ENSP00000295131:D125E	ENSP00000295131:D125E	D	-	3	2	ZSWIM2	187412050	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.829000	0.01701	-3.264000	0.00201	-0.312000	0.09012	GAC		0.403	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		10	154	1	0	7.48243e-07	0.006214	9.14759e-07	10	154				
C2orf47	79568	broad.mit.edu	37	2	200824549	200824549	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:200824549G>C	ENST00000392290.1	+	3	791	c.595G>C	c.(595-597)Gat>Cat	p.D199H	C2orf47_ENST00000295079.2_Missense_Mutation_p.D199H|C2orf47_ENST00000469156.1_3'UTR			Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	199						mitochondrion (GO:0005739)		p.D199H(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						TGCTAACATAGATGAAATTGT	0.358																																							uc002uvm.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(595-597)GAT>CAT		hypothetical protein LOC79568 precursor							116.0	106.0	109.0					2																	200824549		2203	4298	6501	SO:0001583	missense	79568					mitochondrion		g.chr2:200824549G>C	BC017959	CCDS2329.1	2q33.1	2011-03-08			ENSG00000162972	ENSG00000162972			26198	protein-coding gene	gene with protein product						12477932	Standard	NM_024520		Approved	DKFZp666A212, FLJ22555	uc002uvm.3	Q8WWC4	OTTHUMG00000132771	ENST00000392290.1:c.595G>C	2.37:g.200824549G>C	ENSP00000376111:p.Asp199His						p.D199H	NM_024520	NP_078796	Q8WWC4	CB047_HUMAN			4	917	+			199					Q658V9|Q9H671	Missense_Mutation	SNP	ENST00000392290.1	37	c.595G>C	CCDS2329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.661054|4.661054	0.88154|0.88154	.|.	.|.	ENSG00000162972|ENSG00000162972	ENST00000295079;ENST00000392290|ENST00000435773	T;T|.	0.55760|.	0.5;0.5|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74861|.	0.3772|.	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|.	0.70092|.	-0.4967|.	10|.	0.87932|.	D|.	0|.	-17.2481|-17.2481	20.2672|20.2672	0.98462|0.98462	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	199|.	Q8WWC4|.	CB047_HUMAN|.	H|Y	199|191	ENSP00000295079:D199H;ENSP00000376111:D199H|.	ENSP00000295079:D199H|.	D|X	+|+	1|3	0|2	C2orf47|C2orf47	200532794|200532794	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.884000|0.884000	0.51177|0.51177	7.957000|7.957000	0.87870|0.87870	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GAT|TAG		0.358	C2orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256146.1	NM_024520		7	90	0	0	0	0.001984	0	7	90				
IDH1	3417	broad.mit.edu	37	2	209113181	209113181	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:209113181C>T	ENST00000415913.1	-	4	707	c.326G>A	c.(325-327)aGa>aAa	p.R109K	IDH1_ENST00000446179.1_Missense_Mutation_p.R109K|IDH1_ENST00000345146.2_Missense_Mutation_p.R109K	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	109					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)	p.R109K(1)		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)		AATGGCTTCTCTGAAGACCGT	0.438			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.2		NA		Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma 		1	Substitution - Missense(1)		lung(1)	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.(325-327)AGA>AAA		isocitrate dehydrogenase 1 (NADP+), soluble							97.0	89.0	92.0					2																	209113181		2203	4300	6503	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.chr2:209113181C>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.326G>A	2.37:g.209113181C>T	ENSP00000390265:p.Arg109Lys					IDH1_uc002vct.2_Missense_Mutation_p.R109K|IDH1_uc002vcu.2_Missense_Mutation_p.R109K	p.R109K	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	572	-			109				Substrate.	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.326G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788084	0.96945	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93762	0.8006	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96195	0.9141	10	0.87932	D	0	-8.2019	19.5341	0.95242	0.0:1.0:0.0:0.0	.	109	O75874	IDHC_HUMAN	K	109	ENSP00000260985:R109K;ENSP00000410513:R109K;ENSP00000390265:R109K;ENSP00000391075:R109K	ENSP00000260985:R109K	R	-	2	0	IDH1	208821426	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.818000	0.86416	2.616000	0.88540	0.555000	0.69702	AGA		0.438	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			12	74	0	0	0	0.001368	0	12	74				
PIKFYVE	200576	broad.mit.edu	37	2	209142380	209142380	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:209142380C>T	ENST00000264380.4	+	5	719	c.561C>T	c.(559-561)ttC>ttT	p.F187F	PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000407449.1_Silent_p.F187F|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	187					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.F187F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGCAGATTTTCTGCAGTCGTT	0.388																																							uc002vcz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(559-561)TTC>TTT		phosphatidylinositol-3-phosphate 5-kinase type							139.0	144.0	142.0					2																	209142380		2203	4300	6503	SO:0001819	synonymous_variant	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209142380C>T	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.561C>T	2.37:g.209142380C>T						PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Silent_p.F187F|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Silent_p.F187F|PIKFYVE_uc002vcx.2_Intron	p.F187F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			5	719	+			187			FYVE-type.		Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.561C>T	CCDS2382.1																																																																																				0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		13	150	0	0	0	0.003163	0	13	150				
DOCK10	55619	broad.mit.edu	37	2	225658141	225658141	+	Missense_Mutation	SNP	T	T	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:225658141T>C	ENST00000258390.7	-	46	5255	c.5188A>G	c.(5188-5190)Att>Gtt	p.I1730V	DOCK10_ENST00000409592.3_Missense_Mutation_p.I1724V	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1730	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)	p.I1728V(1)|p.I268V(1)		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)		TACTCTGCAATGAGAGCAGCA	0.373																																							uc010fwz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(5188-5190)ATT>GTT		dedicator of cytokinesis 10							102.0	96.0	98.0					2																	225658141		1848	4105	5953	SO:0001583	missense	55619						GTP binding	g.chr2:225658141T>C	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.5188A>G	2.37:g.225658141T>C	ENSP00000258390:p.Ile1730Val					DOCK10_uc002vob.2_Missense_Mutation_p.I1724V|DOCK10_uc002voa.2_Missense_Mutation_p.I386V|DOCK10_uc002voc.2_Missense_Mutation_p.I584V	p.I1730V	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)	46	5427	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1730			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5188A>G	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	T	5.959	0.361004	0.11296	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.13420	3.49;2.59	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.12603	0.0306	N	0.02842	-0.48	0.38924	D	0.957793	B;P;B;B	0.48640	0.084;0.913;0.244;0.015	B;P;B;B	0.61592	0.094;0.891;0.298;0.01	T	0.16897	-1.0387	10	0.02654	T	1	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	1730;584;1724;392	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	V	1724;1730;268	ENSP00000386694:I1724V;ENSP00000258390:I1730V	ENSP00000258390:I1730V	I	-	1	0	DOCK10	225366385	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.901000	0.56303	2.307000	0.77673	0.528000	0.53228	ATT		0.373	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			10	63	0	0	0	0.010729	0	10	63				
DAW1	164781	broad.mit.edu	37	2	228786187	228786187	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:228786187C>T	ENST00000309931.2	+	12	1206	c.1123C>T	c.(1123-1125)Cag>Tag	p.Q375*	DAW1_ENST00000545118.1_Nonsense_Mutation_p.Q360*|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	375						cilium (GO:0005929)		p.Q375*(1)									CTGGGATGCTCAGACTGGCCA	0.433																																							uc002vpn.1		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(1123-1125)CAG>TAG		WD repeat domain 69							87.0	87.0	87.0					2																	228786187		2203	4300	6503	SO:0001587	stop_gained	164781							g.chr2:228786187C>T		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1123C>T	2.37:g.228786187C>T	ENSP00000311899:p.Gln375*					WDR69_uc010zlw.1_Nonsense_Mutation_p.Q360*|WDR69_uc002vpo.1_RNA	p.Q375*	NM_178821	NP_849143	Q8N136	WDR69_HUMAN		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)	12	1202	+		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)	375			WD 7.		Q6ZRY1|Q8N776	Nonsense_Mutation	SNP	ENST00000309931.2	37	c.1123C>T	CCDS2470.1	.	.	.	.	.	.	.	.	.	.	C	36	5.958569	0.97145	.	.	ENSG00000123977	ENST00000309931;ENST00000545118	.	.	.	5.41	5.41	0.78517	.	0.903845	0.09695	N	0.767816	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.5819	0.68298	0.0:0.8429:0.1571:0.0	.	.	.	.	X	375;360	.	ENSP00000311899:Q375X	Q	+	1	0	WDR69	228494431	0.232000	0.23762	0.920000	0.36463	0.979000	0.70002	0.889000	0.28282	2.532000	0.85374	0.650000	0.86243	CAG		0.433	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		24	109	0	0	0	0.00333	0	24	109				
TRPM8	79054	broad.mit.edu	37	2	234894470	234894470	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr2:234894470C>A	ENST00000324695.4	+	21	2940	c.2900C>A	c.(2899-2901)aCc>aAc	p.T967N	TRPM8_ENST00000433712.2_Missense_Mutation_p.T545N	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	967					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.T967N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGTTATCCACCAACATCCTG	0.567																																							uc002vvh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(2899-2901)ACC>AAC		transient receptor potential cation channel,	Menthol(DB00825)						140.0	97.0	112.0					2																	234894470		2203	4300	6503	SO:0001583	missense	79054					integral to membrane		g.chr2:234894470C>A	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2900C>A	2.37:g.234894470C>A	ENSP00000323926:p.Thr967Asn					TRPM8_uc010fyj.2_Missense_Mutation_p.T545N|TRPM8_uc010fyk.2_RNA	p.T967N	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	21	2940	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	967			Helical; Name=6; (Potential).		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	c.2900C>A	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840840	0.91197	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	D;D;D	0.98455	-4.94;-4.94;-4.94	5.13	5.13	0.70059	Ion transport (1);	0.000000	0.64402	D	0.000006	D	0.98979	0.9652	M	0.85197	2.74	0.35176	D	0.772031	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.99974	1.2119	10	0.62326	D	0.03	-28.063	17.1572	0.86794	0.0:1.0:0.0:0.0	.	545;967	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	N	967;545;228	ENSP00000323926:T967N;ENSP00000404423:T545N;ENSP00000414198:T228N	ENSP00000323926:T967N	T	+	2	0	TRPM8	234559209	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.601000	0.82783	2.389000	0.81357	0.591000	0.81541	ACC		0.567	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		4	9	1	0	0.00909568	0.009096	0.00957083	4	9				
PLCB1	23236	broad.mit.edu	37	20	8130941	8130941	+	Splice_Site	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr20:8130941G>C	ENST00000338037.6	+	2	127	c.100G>C	c.(100-102)Gac>Cac	p.D34H	PLCB1_ENST00000378641.3_Splice_Site_p.D34H|PLCB1_ENST00000378637.2_Splice_Site_p.D34H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	34				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). {ECO:0000305}.	activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.D34H(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACATTTCTAGGACTCAACTAT	0.328																																							uc002wnb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(100-102)GAC>CAC		phosphoinositide-specific phospholipase C beta 1							71.0	69.0	70.0					20																	8130941		2203	4291	6494	SO:0001630	splice_region_variant	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8130941G>C	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.100-1G>C	20.37:g.8130941G>C						PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.D34H|PLCB1_uc002wmz.1_Missense_Mutation_p.D34H|PLCB1_uc002wna.2_Missense_Mutation_p.D34H	p.D34H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			2	103	+			34	MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).				D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.100G>C	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046055	0.75846	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.70595	2.14	0.54753	D	0.999984	D;D;D	0.89917	0.985;1.0;1.0	P;D;D	0.87578	0.689;0.98;0.998	T	0.67217	-0.5726	9	.	.	.	.	18.5213	0.90954	0.0:0.0:1.0:0.0	.	34;34;33	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	H	34;34;34;33	ENSP00000367908:D34H;ENSP00000338185:D34H;ENSP00000367904:D34H;ENSP00000384001:D33H	.	D	+	1	0	PLCB1	8078941	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.999000	0.76283	2.715000	0.92844	0.561000	0.74099	GAC		0.328	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		Missense_Mutation	11	57	0	0	0	0.008291	0	11	57				
PLCB4	5332	broad.mit.edu	37	20	9417782	9417782	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr20:9417782G>T	ENST00000378493.1	+	26	2726	c.2711G>T	c.(2710-2712)gGt>gTt	p.G904V	PLCB4_ENST00000378473.3_Missense_Mutation_p.G916V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.G904V|PLCB4_ENST00000278655.4_Missense_Mutation_p.G904V|PLCB4_ENST00000414679.2_Missense_Mutation_p.G916V|PLCB4_ENST00000378501.2_Missense_Mutation_p.G904V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	904					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.G904V(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTGGCCTCTGGTGTGGAAGCC	0.478																																							uc002wnf.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(11)|ovary(3)|pancreas(1)	15						c.(2710-2712)GGT>GTT		phospholipase C beta 4 isoform b							62.0	57.0	58.0					20																	9417782		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9417782G>T		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2711G>T	20.37:g.9417782G>T	ENSP00000367754:p.Gly904Val					PLCB4_uc010gbw.1_Missense_Mutation_p.G904V|PLCB4_uc010gbx.2_Missense_Mutation_p.G916V|PLCB4_uc002wne.2_Missense_Mutation_p.G904V|PLCB4_uc002wnh.2_Missense_Mutation_p.G751V	p.G904V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			28	2847	+			904					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.2711G>T	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862770	0.32884	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.61274	2.16;2.17;0.12;0.12;2.16;1.98	6.03	6.03	0.97812	.	0.217816	0.48767	D	0.000174	T	0.43299	0.1241	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.18968	0.0;0.007;0.018;0.032	B;B;B;B	0.21917	0.001;0.008;0.006;0.037	T	0.23868	-1.0176	10	0.27082	T	0.32	.	16.773	0.85543	0.0:0.1286:0.8714:0.0	.	916;751;904;904	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	V	904;916;904;904;904;752	ENSP00000334105:G904V;ENSP00000367734:G916V;ENSP00000278655:G904V;ENSP00000367754:G904V;ENSP00000367762:G904V;ENSP00000390616:G752V	ENSP00000278655:G904V	G	+	2	0	PLCB4	9365782	1.000000	0.71417	0.315000	0.25238	0.927000	0.56198	4.203000	0.58453	2.854000	0.98071	0.655000	0.94253	GGT		0.478	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			3	22	1	0	0.00909568	0.009096	0.00957083	3	22				
TRPC4AP	26133	broad.mit.edu	37	20	33665863	33665863	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr20:33665863G>C	ENST00000252015.2	-	2	372	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.Q95E|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.Q95E			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	95	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.Q95E(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGGATGTTTTGACACTCAACA	0.498																																							uc002xbk.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(283-285)CAA>GAA		TRPC4-associated protein isoform a							110.0	102.0	105.0					20																	33665863		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33665863G>C	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.283C>G	20.37:g.33665863G>C	ENSP00000252015:p.Gln95Glu					TRPC4AP_uc002xbl.2_Missense_Mutation_p.Q95E|TRPC4AP_uc010zur.1_Missense_Mutation_p.Q95E|TRPC4AP_uc002xbm.1_Missense_Mutation_p.Q95E	p.Q95E	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		2	317	-			95			Interaction with TNFRSF1A (By similarity).		E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.283C>G	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597219	0.46318	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	T;T;T	0.28069	1.63;1.63;1.63	5.3	5.3	0.74995	.	0.158874	0.56097	D	0.000024	T	0.21387	0.0515	N	0.19112	0.55	0.80722	D	1	B;B;B	0.25007	0.116;0.055;0.116	B;B;B	0.21360	0.023;0.034;0.023	T	0.05801	-1.0863	10	0.14656	T	0.56	.	18.0824	0.89445	0.0:0.0:1.0:0.0	.	95;95;95	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	E	95;95;95;80	ENSP00000252015:Q95E;ENSP00000400614:Q95E;ENSP00000400497:Q95E	ENSP00000252015:Q95E	Q	-	1	0	TRPC4AP	33129524	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.471000	0.90403	2.629000	0.89072	0.563000	0.77884	CAA		0.498	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		5	63	0	0	0	0.001168	0	5	63				
SRSF6	6431	broad.mit.edu	37	20	42088452	42088452	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr20:42088452G>A	ENST00000244020.3	+	3	404	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	100					alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.D100N(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						ATCTGGCAGAGACAAATACGG	0.398																																							uc010zwg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GAC>AAC		arginine/serine-rich splicing factor 6							158.0	143.0	148.0					20																	42088452		2203	4300	6503	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088452G>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.298G>A	20.37:g.42088452G>A	ENSP00000244020:p.Asp100Asn					SFRS6_uc002xki.2_5'UTR|SFRS6_uc002xkk.2_Missense_Mutation_p.D100N	p.D100N	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		3	468	+		Myeloproliferative disorder(115;0.00452)	100					B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.298G>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290773	0.40494	.	.	ENSG00000124193	ENST00000244020	T	0.10860	2.83	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	M	0.76170	2.325	0.80722	D	1	B;B	0.29571	0.227;0.249	B;B	0.27715	0.05;0.082	T	0.01015	-1.1480	10	0.46703	T	0.11	.	18.9573	0.92664	0.0:0.0:1.0:0.0	.	100;100	Q13247;A8K588	SRSF6_HUMAN;.	N	100	ENSP00000244020:D100N	ENSP00000244020:D100N	D	+	1	0	SRSF6	41521866	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	9.362000	0.97126	2.777000	0.95525	0.591000	0.81541	GAC		0.398	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		13	128	0	0	0	0.001368	0	13	128				
SRSF6	6431	broad.mit.edu	37	20	42088829	42088829	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr20:42088829G>A	ENST00000244020.3	+	4	644	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	180	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.E180K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TAGGCTTATTGAAGATAAGCC	0.423																																							uc010zwg.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(538-540)GAA>AAA		arginine/serine-rich splicing factor 6							59.0	60.0	60.0					20																	42088829		2203	4297	6500	SO:0001583	missense	6431				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr20:42088829G>A	U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.538G>A	20.37:g.42088829G>A	ENSP00000244020:p.Glu180Lys					SFRS6_uc002xki.2_Missense_Mutation_p.E51K|SFRS6_uc002xkk.2_Missense_Mutation_p.E180K	p.E180K	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		4	708	+		Myeloproliferative disorder(115;0.00452)	180			RRM 2.		B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	ENST00000244020.3	37	c.538G>A	CCDS13318.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548377	0.86127	.	.	ENSG00000124193	ENST00000244020	T	0.12879	2.64	5.98	5.98	0.97165	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.092890	0.64402	D	0.000001	T	0.42245	0.1194	M	0.81179	2.53	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68765	0.946;0.96	T	0.22977	-1.0201	10	0.87932	D	0	.	19.2235	0.93808	0.0:0.0:1.0:0.0	.	180;180	Q13247;A8K588	SRSF6_HUMAN;.	K	180	ENSP00000244020:E180K	ENSP00000244020:E180K	E	+	1	0	SRSF6	41522243	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.690000	0.98676	2.838000	0.97847	0.591000	0.81541	GAA		0.423	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1	NM_006275		9	37	0	0	0	0.006214	0	9	37				
L3MBTL1	26013	broad.mit.edu	37	20	42162660	42162660	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr20:42162660C>T	ENST00000427442.2	+	14	1619	c.1460C>T	c.(1459-1461)cCt>cTt	p.P487L	L3MBTL1_ENST00000444063.1_Missense_Mutation_p.P419L|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.P419L|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.P487L|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.P419L			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	419					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P487L(1)		breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TACCCAGACCCTGATAACTTC	0.577																																							uc010zwh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1459-1461)CCT>CTT		l(3)mbt-like isoform I							102.0	104.0	103.0					20																	42162660		2203	4300	6503	SO:0001583	missense	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42162660C>T	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.1460C>T	20.37:g.42162660C>T	ENSP00000402107:p.Pro487Leu					L3MBTL_uc002xkl.2_Missense_Mutation_p.P419L|L3MBTL_uc002xkm.2_Missense_Mutation_p.P419L|L3MBTL_uc010ggl.2_Missense_Mutation_p.P419L|L3MBTL_uc002xkn.1_Missense_Mutation_p.P178L|L3MBTL_uc002xko.2_Missense_Mutation_p.P71L	p.P487L	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		14	1506	+		Myeloproliferative disorder(115;0.00452)	419					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	c.1460C>T	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612857	0.66672	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.23348	2.15;2.15;2.17;2.15;2.16;1.91	5.91	5.91	0.95273	.	0.166713	0.53938	D	0.000044	T	0.43875	0.1267	M	0.67397	2.05	0.51233	D	0.99991	P;B;D;P	0.56521	0.777;0.399;0.976;0.893	B;B;P;B	0.54210	0.142;0.073;0.745;0.364	T	0.08249	-1.0731	10	0.36615	T	0.2	.	19.0733	0.93148	0.0:1.0:0.0:0.0	.	487;71;419;419	Q9Y468-5;Q9Y468-3;Q9Y468-2;Q9Y468-1	.;.;.;.	L	487;487;419;419;419;205;71	ENSP00000402107:P487L;ENSP00000398516:P487L;ENSP00000362227:P419L;ENSP00000403316:P419L;ENSP00000362226:P419L;ENSP00000410139:P205L	ENSP00000362225:P71L	P	+	2	0	L3MBTL1	41596074	0.971000	0.33674	1.000000	0.80357	0.995000	0.86356	1.832000	0.39151	2.799000	0.96334	0.650000	0.86243	CCT		0.577	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		9	86	0	0	0	0.006214	0	9	86				
EEF1A2	1917	broad.mit.edu	37	20	62126429	62126429	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr20:62126429G>T	ENST00000298049.7	-	3	420	c.350C>A	c.(349-351)gCg>gAg	p.A117E	EEF1A2_ENST00000217182.3_Missense_Mutation_p.A117E			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	117	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.A117E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CACGCCCGCCGCCACGATCAG	0.701																																							uc002yfd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(349-351)GCG>GAG		eukaryotic translation elongation factor 1 alpha							39.0	47.0	44.0					20																	62126429		2194	4280	6474	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62126429G>T	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.350C>A	20.37:g.62126429G>T	ENSP00000298049:p.Ala117Glu					EEF1A2_uc002yfe.1_Missense_Mutation_p.A117E|EEF1A2_uc010gkg.1_Missense_Mutation_p.A117E	p.A117E	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		3	451	-	all_cancers(38;9.45e-12)		117					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.350C>A	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802709	0.90623	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.45668	0.89;0.89	3.88	3.88	0.44766	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.89534	3.04	0.80722	D	1	D;D	0.89917	1.0;0.988	D;D	0.91635	0.999;0.98	T	0.79734	-0.1679	10	0.87932	D	0	0.4547	16.1929	0.82005	0.0:0.0:1.0:0.0	.	93;117	Q59GP5;Q05639	.;EF1A2_HUMAN	E	117	ENSP00000298049:A117E;ENSP00000217182:A117E	ENSP00000217182:A117E	A	-	2	0	EEF1A2	61596873	1.000000	0.71417	0.885000	0.34714	0.832000	0.47134	9.656000	0.98514	1.891000	0.54761	0.313000	0.20887	GCG		0.701	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		6	57	1	0	5.18039e-06	0.00308	6.10392e-06	6	57				
ITSN1	6453	broad.mit.edu	37	21	35229122	35229122	+	Silent	SNP	C	C	T	rs142988236		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr21:35229122C>T	ENST00000381318.3	+	30	4032	c.3744C>T	c.(3742-3744)acC>acT	p.T1248T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.T1243T|ITSN1_ENST00000437442.2_Silent_p.T1243T|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000381285.4_Silent_p.T1248T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1248	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.T1248T(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCATTGTCACCGAGGAGAACT	0.547																																							uc002yta.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(3742-3744)ACC>ACT		intersectin 1 isoform ITSN-l		C		0,4406		0,0,2203	113.0	94.0	100.0		3744	-10.4	0.0	21	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITSN1	NM_003024.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1248/1722	35229122	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35229122C>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3744C>T	21.37:g.35229122C>T						DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.T1243T|ITSN1_uc002ytj.2_Silent_p.T1243T|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yti.1_RNA	p.T1248T	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			30	4012	+			1248			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Silent	SNP	ENST00000381318.3	37	c.3744C>T	CCDS33545.1																																																																																				0.547	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		5	40	0	0	0	0.000602	0	5	40				
COL6A1	1291	broad.mit.edu	37	21	47410956	47410956	+	Splice_Site	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr21:47410956G>A	ENST00000361866.3	+	15	1233		c.e15+1			NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1						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)	p.?(1)		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)		AGGAGAAAAGGTGAGTGACTT	0.607																																							uc002zhu.1		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e15+1		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						37.0	43.0	41.0					21																	47410956		2203	4300	6503	SO:0001630	splice_region_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410956G>A	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.1119+1G>A	21.37:g.47410956G>A							p.K373_splice	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	15	1221	+	all_hematologic(128;0.24)							O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Splice_Site	SNP	ENST00000361866.3	37	c.1119_splice	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.254084	0.59212	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1734	0.86835	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL6A1	46235384	1.000000	0.71417	0.996000	0.52242	0.429000	0.31625	7.642000	0.83385	2.292000	0.77174	0.579000	0.79373	.		0.607	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	Intron	3	25	0	0	0	0.004672	0	3	25				
TBC1D10A	83874	broad.mit.edu	37	22	30688415	30688415	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr22:30688415G>T	ENST00000215790.7	-	9	1640	c.1476C>A	c.(1474-1476)caC>caA	p.H492Q	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H499Q|RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000407689.3_5'Flank|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H404Q|GATSL3_ENST00000404953.3_5'Flank	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	492					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.H492Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTGGGAGCGGTGGTGGGCTG	0.612																																							uc011akt.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1474-1476)CAC>CAA		TBC1 domain family, member 10A							94.0	106.0	102.0					22																	30688415		2203	4300	6503	SO:0001583	missense	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30688415G>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1476C>A	22.37:g.30688415G>T	ENSP00000215790:p.His492Gln					GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Missense_Mutation_p.H404Q|TBC1D10A_uc010gvu.2_Missense_Mutation_p.H499Q|TBC1D10A_uc003ahk.3_Missense_Mutation_p.H492Q	p.H492Q	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			11	1500	-			492					B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	c.1476C>A	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101407	0.56183	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.05382	3.45;3.47;3.48	5.12	2.99	0.34606	.	0.127168	0.52532	D	0.000066	T	0.13713	0.0332	L	0.54323	1.7	0.37103	D	0.900007	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.56788	0.806;0.806;0.806	T	0.10064	-1.0646	10	0.40728	T	0.16	.	11.2405	0.48966	0.1625:0.0:0.8375:0.0	.	492;499;492	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	Q	492;499;404	ENSP00000215790:H492Q;ENSP00000384996:H499Q;ENSP00000385050:H404Q	ENSP00000215790:H492Q	H	-	3	2	TBC1D10A	29018415	1.000000	0.71417	0.777000	0.31699	0.756000	0.42949	5.995000	0.70631	1.309000	0.44985	0.561000	0.74099	CAC		0.612	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		13	181	1	0	0.00185496	0.001855	0.00199656	13	181				
LARGE	9215	broad.mit.edu	37	22	33700318	33700318	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr22:33700318C>A	ENST00000354992.2	-	13	2198	c.1627G>T	c.(1627-1629)Gtg>Ttg	p.V543L	LARGE_ENST00000437602.2_Missense_Mutation_p.V543L|LARGE_ENST00000402320.1_Missense_Mutation_p.V491L|LARGE_ENST00000397394.2_Missense_Mutation_p.V543L|LARGE_ENST00000452586.2_Missense_Mutation_p.V342L|LARGE_ENST00000337431.2_Missense_Mutation_p.V491L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	543					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.V543M(2)|p.V543L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGCAGGTTCACGGGGTAGAAC	0.572																																					Colon(70;397 1175 4573 19089 45288)	Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1627-1629)GTG>TTG		like-glycosyltransferase							177.0	138.0	151.0					22																	33700318		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33700318C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1627G>T	22.37:g.33700318C>A	ENSP00000347088:p.Val543Leu					LARGE_uc011amd.1_Missense_Mutation_p.V342L|LARGE_uc003ane.3_Missense_Mutation_p.V543L|LARGE_uc010gwp.2_Missense_Mutation_p.V491L|LARGE_uc011ame.1_Missense_Mutation_p.V475L|LARGE_uc011amf.1_Missense_Mutation_p.V543L	p.V543L	NM_004737	NP_004728	O95461	LARGE_HUMAN			13	2206	-		Lung NSC(1;0.219)	543			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.1627G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338466	0.81911	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.57107	1.91;1.91;1.91;1.91;1.91;0.42	5.33	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.74566	0.3733	M	0.90425	3.115	0.80722	D	1	D;P;D;D	0.61080	0.973;0.454;0.966;0.989	P;B;P;P	0.62885	0.866;0.413;0.733;0.908	T	0.80251	-0.1460	10	0.59425	D	0.04	-16.1227	13.9395	0.64046	0.0:0.9271:0.0:0.0729	.	543;342;491;543	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	L	220;220;543;491;543;491;342;543	ENSP00000347088:V543L;ENSP00000336636:V491L;ENSP00000380549:V543L;ENSP00000385223:V491L;ENSP00000407917:V342L;ENSP00000388544:V543L	ENSP00000336636:V491L	V	-	1	0	LARGE	32030318	1.000000	0.71417	0.960000	0.40013	0.884000	0.51177	5.565000	0.67365	1.260000	0.44134	-0.251000	0.11542	GTG		0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		7	80	1	0	2.17888e-05	0.006214	2.51135e-05	7	80				
CSNK1E	1454	broad.mit.edu	37	22	38696822	38696822	+	Missense_Mutation	SNP	C	C	T	rs267606247		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr22:38696822C>T	ENST00000396832.1	-	5	732	c.472G>A	c.(472-474)Gac>Aac	p.D158N	CSNK1E_ENST00000498529.1_5'Flank|CSNK1E_ENST00000413574.2_Missense_Mutation_p.D158N|CSNK1E_ENST00000359867.3_Missense_Mutation_p.D158N|CSNK1E_ENST00000405675.3_Missense_Mutation_p.D158N|CSNK1E_ENST00000400206.2_Missense_Mutation_p.D158N|CSNK1E_ENST00000403904.1_Missense_Mutation_p.D158N	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein localization (GO:0034613)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D158N(3)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GTGCGGGCGTCCCGGTACTTC	0.617																																					Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	Esophageal Squamous(119;108 755 9651 12170 13692 17603 24932 28315 37982 41601)	uc003avj.2		NA																	3	Substitution - Missense(3)		lung(3)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(472-474)GAC>AAC		casein kinase 1 epsilon							161.0	131.0	141.0					22																	38696822		2203	4300	6503	SO:0001583	missense	1454				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr22:38696822C>T		CCDS13970.1	22q13.1	2013-01-17			ENSG00000213923	ENSG00000213923			2453	protein-coding gene	gene with protein product		600863				7797465, 10535959	Standard	NM_001894		Approved	HCKIE, CKIE, CKIepsilon	uc003avk.3	P49674	OTTHUMG00000151135	ENST00000396832.1:c.472G>A	22.37:g.38696822C>T	ENSP00000380044:p.Asp158Asn					CSNK1E_uc003avk.2_Missense_Mutation_p.D158N|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.D158N|CSNK1E_uc003avo.2_Missense_Mutation_p.D158N|CSNK1E_uc003avp.1_Missense_Mutation_p.D158N|CSNK1E_uc003avq.1_Missense_Mutation_p.D158N	p.D158N	NM_152221	NP_689407	P49674	KC1E_HUMAN			5	733	-	Melanoma(58;0.045)		158			Protein kinase.			Missense_Mutation	SNP	ENST00000396832.1	37	c.472G>A	CCDS13970.1	.	.	.	.	.	.	.	.	.	.	C	36	5.739471	0.96873	.	.	ENSG00000213923	ENST00000359867;ENST00000396832;ENST00000402865;ENST00000400206;ENST00000403904;ENST00000413574;ENST00000405675;ENST00000430335	T;T;T;T;T;T;T	0.12255	2.7;2.7;2.7;2.7;2.7;2.7;2.7	5.44	5.44	0.79542	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.135212	0.64402	D	0.000003	T	0.34077	0.0885	M	0.73319	2.225	0.80722	D	1	P;P;P	0.52061	0.488;0.95;0.886	B;P;P	0.56216	0.127;0.794;0.574	T	0.02950	-1.1090	10	0.87932	D	0	.	19.2764	0.94032	0.0:1.0:0.0:0.0	.	158;158;158	B0QY35;B0QY34;P49674	.;.;KC1E_HUMAN	N	158	ENSP00000352929:D158N;ENSP00000380044:D158N;ENSP00000383067:D158N;ENSP00000384074:D158N;ENSP00000407235:D158N;ENSP00000384426:D158N;ENSP00000412335:D158N	ENSP00000352929:D158N	D	-	1	0	CSNK1E	37026768	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.724000	0.93272	0.561000	0.74099	GAC		0.617	CSNK1E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321462.1	NM_001894		5	69	0	0	0	0.000602	0	5	69				
GRM7	2917	broad.mit.edu	37	3	7503364	7503364	+	Silent	SNP	G	G	C	rs138702582		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:7503364G>C	ENST00000357716.4	+	7	1744	c.1470G>C	c.(1468-1470)ccG>ccC	p.P490P	GRM7_ENST00000402647.2_Silent_p.P490P|GRM7_ENST00000403881.1_Silent_p.P490P|GRM7_ENST00000486284.1_Silent_p.P490P|GRM7_ENST00000389336.4_Silent_p.P490P|GRM7_ENST00000458641.2_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	490					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.P490P(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CCAGCAACCCGGGTTACCGTC	0.488																																							uc003bqm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(3)	7						c.(1468-1470)CCG>CCC		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						158.0	145.0	149.0					3																	7503364		2203	4300	6503	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7503364G>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1470G>C	3.37:g.7503364G>C						GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.P490P|GRM7_uc003bql.2_Silent_p.P490P|GRM7_uc003bqn.1_Silent_p.P73P|GRM7_uc010hch.1_5'UTR	p.P490P	NM_000844	NP_000835	Q14831	GRM7_HUMAN			7	1744	+			490			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.1470G>C	CCDS43042.1																																																																																				0.488	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		7	110	0	0	0	0.004482	0	7	110				
TIMP4	7079	broad.mit.edu	37	3	12200325	12200325	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:12200325G>C	ENST00000287814.4	-	1	526	c.16C>G	c.(16-18)Cgg>Ggg	p.R6G	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	6					central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|ovulation cycle (GO:0042698)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)|sarcomere (GO:0030017)	metal ion binding (GO:0046872)|metalloendopeptidase inhibitor activity (GO:0008191)	p.R6G(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GGCGCGGGCCGAGGGCTCCCA	0.721																																					Melanoma(199;1446 2144 30617 38794 51714)	Melanoma(199;1446 2144 30617 38794 51714)	uc003bwo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(16-18)CGG>GGG		tissue inhibitor of metalloproteinase 4							11.0	13.0	12.0					3																	12200325		2161	4250	6411	SO:0001583	missense	7079						metal ion binding|metalloendopeptidase inhibitor activity	g.chr3:12200325G>C	U76456	CCDS2608.1	3p25	2005-10-31	2005-08-08		ENSG00000157150	ENSG00000157150			11823	protein-coding gene	gene with protein product		601915	"""tissue inhibitor of metalloproteinase 4"""			8939999, 9693046	Standard	NM_003256		Approved		uc003bwo.3	Q99727	OTTHUMG00000129763	ENST00000287814.4:c.16C>G	3.37:g.12200325G>C	ENSP00000287814:p.Arg6Gly					SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.2_Intron|SYN2_uc003bwn.2_Intron	p.R6G	NM_003256	NP_003247	Q99727	TIMP4_HUMAN			1	323	-			6					B2R7K6	Missense_Mutation	SNP	ENST00000287814.4	37	c.16C>G	CCDS2608.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.758840	0.31137	.	.	ENSG00000157150	ENST00000287814	D	0.94828	-3.53	4.47	2.62	0.31277	.	1.818600	0.02456	N	0.086052	D	0.91838	0.7417	L	0.42245	1.32	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78420	-0.2211	10	0.42905	T	0.14	.	7.2792	0.26302	0.094:0.1711:0.735:0.0	.	6	Q99727	TIMP4_HUMAN	G	6	ENSP00000287814:R6G	ENSP00000287814:R6G	R	-	1	2	TIMP4	12175325	0.026000	0.19158	0.360000	0.25837	0.908000	0.53690	0.725000	0.25970	0.597000	0.29811	0.563000	0.77884	CGG		0.721	TIMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251978.1	NM_003256		3	12	0	0	0	0.004672	0	3	12				
ZNF385D	79750	broad.mit.edu	37	3	21706452	21706452	+	Silent	SNP	G	G	A	rs375637793		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:21706452G>A	ENST00000281523.2	-	2	609	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	31						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.L31L(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTAATATCCAGCGATGGTTGC	0.517																																							uc003cce.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|skin(2)|ovary(1)	5						c.(91-93)CTG>TTG		zinc finger protein 385D							96.0	91.0	92.0					3																	21706452		2203	4300	6503	SO:0001819	synonymous_variant	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21706452G>A	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.91C>T	3.37:g.21706452G>A						ZNF385D_uc010hfb.1_Intron	p.L31L	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			2	499	-			31						Silent	SNP	ENST00000281523.2	37	c.91C>T	CCDS2636.1																																																																																				0.517	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1	NM_024697		10	43	0	0	0	0.008291	0	10	43				
DCLK3	85443	broad.mit.edu	37	3	36778975	36778975	+	Silent	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:36778975G>C	ENST00000416516.2	-	2	1666	c.1176C>G	c.(1174-1176)ctC>ctG	p.L392L		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	392	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.L392L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTTGCCCTTGAGTCTGGACT	0.527																																							uc003cgi.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1)	9						c.(1174-1176)CTC>CTG		doublecortin-like kinase 3							93.0	88.0	90.0					3																	36778975		2153	4255	6408	SO:0001819	synonymous_variant	85443					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr3:36778975G>C	AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1176C>G	3.37:g.36778975G>C							p.L392L	NM_033403	NP_208382	Q9C098	DCLK3_HUMAN			2	1667	-			392			Protein kinase.			Silent	SNP	ENST00000416516.2	37	c.1176C>G	CCDS43064.1																																																																																				0.527	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341727.1	XM_047355		7	40	0	0	0	0.001984	0	7	40				
XYLB	9942	broad.mit.edu	37	3	38415993	38415993	+	Splice_Site	SNP	G	G	T	rs371569254		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:38415993G>T	ENST00000207870.3	+	11	978	c.888G>T	c.(886-888)gcG>gcT	p.A296A	XYLB_ENST00000542835.1_Splice_Site_p.A159A	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	296					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)	p.A296A(2)		endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GTGACATTGCGGTAAGGCGAC	0.562																																							uc003cic.2		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(886-888)GCG>GCT		xylulokinase							164.0	140.0	148.0					3																	38415993		2203	4300	6503	SO:0001630	splice_region_variant	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38415993G>T	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.888+1G>T	3.37:g.38415993G>T						XYLB_uc011ayp.1_Silent_p.A159A|XYLB_uc003cid.1_Silent_p.A218A	p.A296A	NM_005108	NP_005099	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	11	997	+			296					B2RAW4|B4DDT2|B9EH64	Silent	SNP	ENST00000207870.3	37	c.888G>T	CCDS2678.1																																																																																				0.562	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108	Silent	6	29	1	0	8.12818e-05	0.001984	9.14421e-05	6	29				
SETD2	29072	broad.mit.edu	37	3	47162194	47162194	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:47162194C>T	ENST00000409792.3	-	3	3974	c.3932G>A	c.(3931-3933)gGt>gAt	p.G1311D		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1311					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.G1311D(1)|p.G808D(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGGAGGTCTACCTGATCTTGG	0.468			"""N, F, S, Mis"""		clear cell renal carcinoma																																		uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(3931-3933)GGT>GAT		SET domain containing 2							115.0	103.0	107.0					3																	47162194		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47162194C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3932G>A	3.37:g.47162194C>T	ENSP00000386759:p.Gly1311Asp					SETD2_uc003cqv.2_Missense_Mutation_p.G1300D	p.G1311D	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	3985	-		Acute lymphoblastic leukemia(5;0.0169)	1311					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.3932G>A	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	12.43	1.937036	0.34189	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.87966	-2.32;1.52	5.32	4.43	0.53597	Ferritin/ribonucleotide reductase-like (1);	0.449088	0.20684	N	0.087589	T	0.76292	0.3967	N	0.19112	0.55	0.33621	D	0.604825	B;B	0.11235	0.002;0.004	B;B	0.11329	0.004;0.006	T	0.73927	-0.3828	10	0.25106	T	0.35	.	10.1955	0.43051	0.0:0.8514:0.0:0.1486	.	1311;1311	F2Z317;Q9BYW2	.;SETD2_HUMAN	D	1311;1311;1311;1267	ENSP00000386759:G1311D;ENSP00000416401:G1267D	ENSP00000386759:G1311D	G	-	2	0	SETD2	47137198	0.959000	0.32827	1.000000	0.80357	0.984000	0.73092	1.931000	0.40134	2.770000	0.95276	0.563000	0.77884	GGT		0.468	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		5	67	0	0	0	0.000602	0	5	67				
MST1R	4486	broad.mit.edu	37	3	49927461	49927461	+	Silent	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:49927461C>A	ENST00000296474.3	-	19	3870	c.3843G>T	c.(3841-3843)ctG>ctT	p.L1281L	MST1R_ENST00000344206.4_Silent_p.L1232L	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1281	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)	p.L1281L(2)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CACCCCGTGTCAGCAGTTCCC	0.617																																							uc003cxy.3		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(5)|lung(1)	6						c.(3841-3843)CTG>CTT		macrophage stimulating 1 receptor precursor							96.0	92.0	93.0					3																	49927461		2203	4300	6503	SO:0001819	synonymous_variant	4486				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	g.chr3:49927461C>A	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.3843G>T	3.37:g.49927461C>A						MST1R_uc011bdc.1_Silent_p.L160L	p.L1281L	NM_002447	NP_002438	Q04912	RON_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)	19	4107	-			1281			Cytoplasmic (Potential).|Protein kinase.		B5A944|B5A945|B5A946|B5A947	Silent	SNP	ENST00000296474.3	37	c.3843G>T	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	8.842	0.942375	0.18281	.	.	ENSG00000164078	ENST00000434765	.	.	.	5.82	3.06	0.35304	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.465	9.767	0.40567	0.0:0.777:0.0:0.223	.	.	.	.	L	259	.	.	X	-	2	2	MST1R	49902465	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.652000	0.37313	0.376000	0.24707	0.549000	0.68633	TGA		0.617	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			5	35	1	0	1.23904e-05	0.000602	1.43987e-05	5	35				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																							uc003dpp.3		NA																	1	Substitution - Missense(1)		kidney(1)		0						c.(529-531)ATC>GTC		RecName: Full=Protein FAM86B1;																																						692099							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C						FAM86D_uc003dpo.3_RNA|FAM86D_uc003dps.3_RNA|FAM86D_uc003dpq.3_Missense_Mutation_p.I85V|FAM86D_uc003dpr.3_RNA	p.I177V	NR_024241						7	888	-									Missense_Mutation	SNP	ENST00000459803.1	37	c.529A>G																																																																																					0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		3	16	0	0	0	0.004672	0	3	16				
EPHA3	2042	broad.mit.edu	37	3	89521672	89521672	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:89521672G>T	ENST00000336596.2	+	16	2974	c.2749G>T	c.(2749-2751)Ggt>Tgt	p.G917C	EPHA3_ENST00000494014.1_Splice_Site_p.V917L	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	917	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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)	p.G917C(1)		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)		CCGCACAACAGGTGACTGGCT	0.463										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(2749-2751)GGT>TGT		ephrin receptor EphA3 isoform a precursor							174.0	162.0	166.0					3																	89521672		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89521672G>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.2749G>T	3.37:g.89521672G>T	ENSP00000337451:p.Gly917Cys	TSP Lung(6;0.00050)				EPHA3_uc010hon.1_RNA	p.G917C	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	16	2974	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	917			Cytoplasmic (Potential).|SAM.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2749G>T	CCDS2922.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.99|18.99	3.738970|3.738970	0.69304|0.69304	.|.	.|.	ENSG00000044524|ENSG00000044524	ENST00000336596|ENST00000494014	D|T	0.84070|0.71579	-1.8|-0.58	5.73|5.73	4.86|4.86	0.63082|0.63082	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);|.	0.047997|.	0.85682|.	D|.	0.000000|.	T|T	0.76926|0.76926	0.4056|0.4056	M|M	0.64567|0.64567	1.98|1.98	0.35484|0.35484	D|D	0.798422|0.798422	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.81972|0.81972	-0.0688|-0.0688	9|6	.|.	.|.	.|.	.|.	14.7337|14.7337	0.69402|0.69402	0.0694:0.0:0.9306:0.0|0.0694:0.0:0.9306:0.0	.|.	917|.	P29320|.	EPHA3_HUMAN|.	C|L	917|917	ENSP00000337451:G917C|ENSP00000419190:V917L	.|.	G|V	+|+	1|1	0|0	EPHA3|EPHA3	89604362|89604362	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.413000|5.413000	0.66399|0.66399	1.421000|1.421000	0.47157|0.47157	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.463	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		11	126	1	0	2.27111e-07	0.001368	2.83386e-07	11	126				
ZPLD1	131368	broad.mit.edu	37	3	102171778	102171778	+	Missense_Mutation	SNP	G	G	T	rs530650839		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:102171778G>T	ENST00000491959.1	+	10	1004	c.122G>T	c.(121-123)aGt>aTt	p.S41I	ZPLD1_ENST00000306176.1_Missense_Mutation_p.S57I|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S41I			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	41						integral component of membrane (GO:0016021)		p.S57I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AGAGACATCAGTGTCTATTGT	0.333																																							uc003dvs.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(121-123)AGT>ATT		zona pellucida-like domain containing 1							64.0	64.0	64.0					3																	102171778		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102171778G>T	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.122G>T	3.37:g.102171778G>T	ENSP00000420265:p.Ser41Ile					ZPLD1_uc003dvt.1_Missense_Mutation_p.S57I|ZPLD1_uc011bhg.1_Missense_Mutation_p.S41I	p.S41I	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			10	1004	+			41			Extracellular (Potential).		Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.122G>T		.	.	.	.	.	.	.	.	.	.	G	12.78	2.040688	0.35989	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;D;T	0.81499	-1.49;-1.5;-1.49	5.99	-2.89	0.05665	.	0.359356	0.41001	D	0.000966	T	0.64864	0.2637	L	0.29908	0.895	0.40142	D	0.976845	B;P	0.40970	0.27;0.734	B;B	0.36885	0.085;0.235	T	0.57441	-0.7811	10	0.52906	T	0.07	-28.2628	11.034	0.47789	0.6772:0.1009:0.2219:0.0	.	57;41	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	I	41;57;41	ENSP00000420265:S41I;ENSP00000307801:S57I;ENSP00000418253:S41I	ENSP00000307801:S57I	S	+	2	0	ZPLD1	103654468	1.000000	0.71417	0.887000	0.34795	0.625000	0.37756	0.851000	0.27751	-1.025000	0.03334	-0.783000	0.03347	AGT		0.333	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		6	93	1	0	0.00198382	0.001984	0.00211908	6	93				
CBLB	868	broad.mit.edu	37	3	105456052	105456052	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:105456052C>G	ENST00000264122.4	-	8	1355	c.1034G>C	c.(1033-1035)tGt>tCt	p.C345S	CBLB_ENST00000405772.1_Missense_Mutation_p.C345S|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000394027.3_Missense_Mutation_p.C367S|CBLB_ENST00000403724.1_Missense_Mutation_p.C345S	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	345	Linker.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C345S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTAGGTTCACATAATCCAGT	0.284			Mis S		AML																																GBM(93;588 1337 9788 29341 43499)	GBM(93;588 1337 9788 29341 43499)	uc003dwc.2		NA		Rec	yes		3	3q13.11	868	Mis S	Cas-Br-M (murine) ecotropic retroviral transforming sequence b			L			AML		1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|breast(1)|skin(1)	9						c.(1033-1035)TGT>TCT		Cas-Br-M (murine) ecotropic retroviral							112.0	116.0	115.0					3																	105456052		2202	4280	6482	SO:0001583	missense	868				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	g.chr3:105456052C>G	U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1034G>C	3.37:g.105456052C>G	ENSP00000264122:p.Cys345Ser					CBLB_uc011bhi.1_Missense_Mutation_p.C367S|CBLB_uc003dwd.1_Missense_Mutation_p.C345S|CBLB_uc003dwe.1_Missense_Mutation_p.C345S|CBLB_uc011bhj.1_RNA	p.C345S	NM_170662	NP_733762	Q13191	CBLB_HUMAN			8	1356	-			345			Linker.		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	ENST00000264122.4	37	c.1034G>C	CCDS2948.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475592	0.84640	.	.	ENSG00000114423	ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	D;D;D;D	0.84800	-1.87;-1.88;-1.89;-1.9	5.26	5.26	0.73747	SH2 motif (2);	0.000000	0.85682	D	0.000000	D	0.88429	0.6434	L	0.34521	1.04	0.80722	D	1	D;D;P	0.60575	0.98;0.988;0.946	P;D;B	0.65233	0.858;0.933;0.416	D	0.89700	0.3904	10	0.87932	D	0	-13.318	18.8446	0.92200	0.0:1.0:0.0:0.0	.	367;345;345	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	S	345;367;345;345	ENSP00000264122:C345S;ENSP00000377595:C367S;ENSP00000384816:C345S;ENSP00000384938:C345S	ENSP00000264122:C345S	C	-	2	0	CBLB	106938742	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.731000	0.68554	2.605000	0.88082	0.585000	0.79938	TGT		0.284	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319417.2	NM_170662		6	54	0	0	0	0.001984	0	6	54				
KIAA1524	57650	broad.mit.edu	37	3	108278606	108278606	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:108278606C>G	ENST00000295746.8	-	16	2087	c.2011G>C	c.(2011-2013)Gag>Cag	p.E671Q	KIAA1524_ENST00000487834.1_5'Flank|KIAA1524_ENST00000491772.1_Missense_Mutation_p.E512Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	671					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E671Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTACACACCTCTGTTTCAGCT	0.343																																							uc003dxb.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2011-2013)GAG>CAG		p90 autoantigen							55.0	53.0	54.0					3																	108278606		2203	4300	6503	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108278606C>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2011G>C	3.37:g.108278606C>G	ENSP00000295746:p.Glu671Gln						p.E671Q	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			16	2280	-			671			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.2011G>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288943	0.80914	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.30182	1.54;1.54	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.48926	0.1527	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.40156	-0.9578	10	0.62326	D	0.03	-15.2634	20.5568	0.99304	0.0:1.0:0.0:0.0	.	671	Q8TCG1	CIP2A_HUMAN	Q	512;671	ENSP00000419487:E512Q;ENSP00000295746:E671Q	ENSP00000295746:E671Q	E	-	1	0	KIAA1524	109761296	1.000000	0.71417	0.984000	0.44739	0.459000	0.32528	7.125000	0.77193	2.861000	0.98227	0.655000	0.94253	GAG		0.343	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		3	28	0	0	0	0.004672	0	3	28				
ABHD10	55347	broad.mit.edu	37	3	111710449	111710449	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:111710449G>T	ENST00000273359.3	+	5	829	c.802G>T	c.(802-804)Gat>Tat	p.D268Y	ABHD10_ENST00000534857.1_Missense_Mutation_p.D111Y	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	268					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.D268Y(1)		large_intestine(2)|lung(7)|skin(1)	10						ACTCAGCACAGATGTGGATGT	0.428																																							uc003dyk.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GAT>TAT		abhydrolase domain containing 10 precursor							170.0	143.0	152.0					3																	111710449		2203	4300	6503	SO:0001583	missense	55347					mitochondrion	serine-type peptidase activity	g.chr3:111710449G>T	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.802G>T	3.37:g.111710449G>T	ENSP00000273359:p.Asp268Tyr					ABHD10_uc011bhq.1_Missense_Mutation_p.D111Y	p.D268Y	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			5	883	+			268					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.802G>T	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401180	0.83120	.	.	ENSG00000144827	ENST00000534857;ENST00000273359	T;T	0.68765	0.77;-0.35	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.84447	0.5474	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85752	0.1344	10	0.66056	D	0.02	-20.7191	18.8889	0.92391	0.0:0.0:1.0:0.0	.	268	Q9NUJ1	ABHDA_HUMAN	Y	111;268	ENSP00000442932:D111Y;ENSP00000273359:D268Y	ENSP00000273359:D268Y	D	+	1	0	ABHD10	113193139	1.000000	0.71417	0.447000	0.26932	0.745000	0.42441	9.447000	0.97595	2.771000	0.95319	0.591000	0.81541	GAT		0.428	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1	NM_018394		9	99	1	0	0.000442599	0.006214	0.000486284	9	99				
KIAA2018	205717	broad.mit.edu	37	3	113388995	113388995	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:113388995C>T	ENST00000478658.1	-	3	149	c.132G>A	c.(130-132)ctG>ctA	p.L44L	KIAA2018_ENST00000491165.1_Silent_p.L44L|KIAA2018_ENST00000316407.4_Silent_p.L44L			Q68DE3	K2018_HUMAN	KIAA2018	44	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.L44L(1)		NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACATGGGATCAGCTCTCCTA	0.383																																							uc003eam.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(130-132)CTG>CTA		hypothetical protein LOC205717							181.0	166.0	171.0					3																	113388995		1859	4104	5963	SO:0001819	synonymous_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113388995C>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.132G>A	3.37:g.113388995C>T						KIAA2018_uc003eal.2_5'UTR	p.L44L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			5	543	-			44			Helix-loop-helix motif.		Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	c.132G>A	CCDS43133.1																																																																																				0.383	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		7	77	0	0	0	0.00308	0	7	77				
LSAMP	4045	broad.mit.edu	37	3	115560692	115560692	+	Splice_Site	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:115560692T>A	ENST00000490035.2	-	6	1418	c.919A>T	c.(919-921)Aga>Tga	p.R307*	LSAMP_ENST00000539563.1_Splice_Site_p.K304*|LSAMP_ENST00000498645.1_5'Flank	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	307					cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R307*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GCATACTTACTGAAAAGGACT	0.458																																							uc003ebt.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(919-921)AGA>TGA		limbic system-associated membrane protein							87.0	76.0	80.0					3																	115560692		2203	4300	6503	SO:0001630	splice_region_variant	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115560692T>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.919+1A>T	3.37:g.115560692T>A						LSAMP_uc011bis.1_Nonsense_Mutation_p.K307*	p.R307*	NM_002338	NP_002329	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	6	1419	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	307					Q8IV49	Nonsense_Mutation	SNP	ENST00000490035.2	37	c.919A>T	CCDS2982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	35|35	5.483319|5.483319	0.96307|0.96307	.|.	.|.	ENSG00000185565|ENSG00000185565	ENST00000333617;ENST00000539563|ENST00000490035	.|.	.|.	.|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.304686	.|0.30244	.|N	.|0.010068	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.08381|.	T|.	0.77|.	-6.0E-4|-6.0E-4	16.4728|16.4728	0.84119|0.84119	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|X	291;304|307	.|.	ENSP00000328455:K291X|.	K|R	-|-	1|1	0|2	LSAMP|LSAMP	117043382|117043382	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.438000|2.438000	0.44837|0.44837	2.296000|2.296000	0.77279|0.77279	0.482000|0.482000	0.46254|0.46254	AAA|AGA		0.458	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338	Nonsense_Mutation	8	45	0	0	0	0.004482	0	8	45				
EPHB1	2047	broad.mit.edu	37	3	134670588	134670588	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:134670588C>G	ENST00000398015.3	+	3	869	c.499C>G	c.(499-501)Cct>Gct	p.P167A	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	167	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.P167A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GAGCTTTGGGCCTCTTACTCG	0.473																																							uc003eqt.2		NA																	2	Substitution - Missense(2)	p.P167L(1)	lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(499-501)CCT>GCT		ephrin receptor EphB1 precursor							232.0	227.0	228.0					3																	134670588		1948	4169	6117	SO:0001583	missense	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670588C>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.499C>G	3.37:g.134670588C>G	ENSP00000381097:p.Pro167Ala					EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	p.P167A	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	719	+			167			Extracellular (Potential).		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Missense_Mutation	SNP	ENST00000398015.3	37	c.499C>G	CCDS46921.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.088677	0.76756	.	.	ENSG00000154928	ENST00000398015;ENST00000474732	T;T	0.10099	2.91;2.91	5.49	5.49	0.81192	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.36963	0.0986	M	0.78223	2.4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04693	-1.0933	9	.	.	.	.	19.3897	0.94576	0.0:1.0:0.0:0.0	.	167	P54762	EPHB1_HUMAN	A	167;145	ENSP00000381097:P167A;ENSP00000418352:P145A	.	P	+	1	0	EPHB1	136153278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.578000	0.87016	0.655000	0.94253	CCT		0.473	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		17	215	0	0	0	0.00499	0	17	215				
CLDN18	51208	broad.mit.edu	37	3	137717828	137717828	+	Missense_Mutation	SNP	G	G	A	rs369029508		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:137717828G>A	ENST00000343735.4	+	1	252	c.118G>A	c.(118-120)Gta>Ata	p.V40I		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	40					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CAACAACCCCGTAACAGCTGT	0.592																																							uc003ero.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(118-120)GTA>ATA		claudin 18 isoform 2							120.0	107.0	111.0					3																	137717828		2203	4300	6503	SO:0001583	missense	51208				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr3:137717828G>A	AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"""Claudins"""	2039	protein-coding gene	gene with protein product		609210	"""surfactant associated protein J"""	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000343735.4:c.118G>A	3.37:g.137717828G>A	ENSP00000340939:p.Val40Ile						p.V40I	NM_001002026	NP_001002026	P56856	CLD18_HUMAN			1	171	+			40			Extracellular (Potential).		A5PL21|Q96PH4	Missense_Mutation	SNP	ENST00000343735.4	37	c.118G>A	CCDS33862.1	.	.	.	.	.	.	.	.	.	.	G	8.949	0.967803	0.18659	.	.	ENSG00000066405	ENST00000343735	D	0.85088	-1.94	4.13	4.13	0.48395	.	0.078032	0.51477	D	0.000087	D	0.87330	0.6150	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.82615	-0.0370	9	0.06494	T	0.89	.	16.9489	0.86239	0.0:0.0:1.0:0.0	.	40	P56856-2	.	I	40	ENSP00000340939:V40I	ENSP00000340939:V40I	V	+	1	0	CLDN18	139200518	1.000000	0.71417	0.982000	0.44146	0.551000	0.35334	8.143000	0.89621	2.299000	0.77371	0.563000	0.77884	GTA		0.592	CLDN18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357198.2	NM_001002026		10	75	0	0	0	0.006214	0	10	75				
NAALADL2	254827	broad.mit.edu	37	3	175184875	175184875	+	Nonsense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:175184875C>G	ENST00000454872.1	+	8	1564	c.1436C>G	c.(1435-1437)tCa>tGa	p.S479*	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	479						integral component of membrane (GO:0016021)		p.S479*(1)		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)		GCCTTGATGTCAAAAGTTAAG	0.443																																							uc003fit.2		NA																	1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(1435-1437)TCA>TGA		N-acetylated alpha-linked acidic dipeptidase 2							163.0	157.0	159.0					3																	175184875		1950	4146	6096	SO:0001587	stop_gained	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175184875C>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.1436C>G	3.37:g.175184875C>G	ENSP00000404705:p.Ser479*					NAALADL2_uc003fiu.1_Nonsense_Mutation_p.S472*|NAALADL2_uc010hwy.1_Nonsense_Mutation_p.S253*|NAALADL2_uc010hwz.1_Nonsense_Mutation_p.S73*	p.S479*	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	1523	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	479			Extracellular (Potential).		Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Nonsense_Mutation	SNP	ENST00000454872.1	37	c.1436C>G	CCDS46960.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566857	0.65651	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.58	2.98	0.34508	.	0.596147	0.15427	N	0.262915	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	0.0049	6.0554	0.19809	0.0:0.2349:0.1255:0.6396	.	.	.	.	X	479	.	ENSP00000404705:S479X	S	+	2	0	NAALADL2	176667569	0.002000	0.14202	0.052000	0.19188	0.060000	0.15804	0.814000	0.27239	0.320000	0.23234	-0.225000	0.12378	TCA		0.443	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015		15	124	0	0	0	0.003163	0	15	124				
NDUFB5	4711	broad.mit.edu	37	3	179332786	179332786	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:179332786G>T	ENST00000259037.3	+	2	266	c.152G>T	c.(151-153)gGg>gTg	p.G51V	NDUFB5_ENST00000493866.1_Intron|NDUFB5_ENST00000472629.1_Intron|snoU13_ENST00000459278.1_RNA|NDUFB5_ENST00000473500.1_Intron	NM_002492.3	NP_002483.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	51					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G51V(1)		endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			GGAGACCATGGGAAAAGACTA	0.343																																							uc003fkc.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(151-153)GGG>GTG		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						103.0	102.0	102.0					3																	179332786		2203	4300	6503	SO:0001583	missense	4711				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr3:179332786G>T	AF047181	CCDS3234.1, CCDS56297.1, CCDS75054.1	3q27.1	2011-07-04	2002-08-29		ENSG00000136521	ENSG00000136521		"""Mitochondrial respiratory chain complex / Complex I"""	7700	protein-coding gene	gene with protein product	"""complex I SGDH subunit"""	603841	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5 (16kD, SGDH)"""			9425316	Standard	NM_002492		Approved	SGDH, CI-SGDH, MGC12314	uc003fkc.3	O43674	OTTHUMG00000157480	ENST00000259037.3:c.152G>T	3.37:g.179332786G>T	ENSP00000259037:p.Gly51Val					NDUFB5_uc003fkd.2_RNA|NDUFB5_uc003fke.2_Intron	p.G51V	NM_002492	NP_002483	O43674	NDUB5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	181	+	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		51					Q561V6	Missense_Mutation	SNP	ENST00000259037.3	37	c.152G>T	CCDS3234.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.39|16.39	3.110956|3.110956	0.56398|0.56398	.|.	.|.	ENSG00000136521|ENSG00000136521	ENST00000259037|ENST00000482604	T|.	0.67171|.	-0.25|.	4.62|4.62	3.74|3.74	0.42951|0.42951	.|.	0.113950|0.113950	0.64402|0.64402	D|D	0.000011|0.000011	T|.	0.77425|.	0.4128|.	M|M	0.87682|0.87682	2.9|2.9	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.65140|.	0.932|.	T|.	0.81232|.	-0.1026|.	10|.	0.87932|0.87932	D|D	0|0	-7.9958|-7.9958	11.5855|11.5855	0.50916|0.50916	0.0886:0.0:0.9114:0.0|0.0886:0.0:0.9114:0.0	.|.	51|.	O43674|.	NDUB5_HUMAN|.	V|X	51|48	ENSP00000259037:G51V|.	ENSP00000259037:G51V|ENSP00000418354:G48X	G|G	+|+	2|1	0|0	NDUFB5|NDUFB5	180815480|180815480	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.623000|0.623000	0.37688|0.37688	5.008000|5.008000	0.63991|0.63991	1.302000|1.302000	0.44855|0.44855	0.551000|0.551000	0.68910|0.68910	GGG|GGA		0.343	NDUFB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348937.2	NM_002492		12	81	1	0	0.000308642	0.003163	0.000340876	12	81				
UTS2B	257313	broad.mit.edu	37	3	190993092	190993092	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr3:190993092C>A	ENST00000340524.5	-	8	1069	c.283G>T	c.(283-285)Gag>Tag	p.E95*	UTS2B_ENST00000427544.2_Nonsense_Mutation_p.E95*	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	95					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)		p.E95*(1)									TAGGACGTCTCAGAATCCTTC	0.358																																							uc003fsu.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(283-285)GAG>TAG		urotensin 2 domain containing precursor							185.0	182.0	183.0					3																	190993092		2203	4300	6503	SO:0001587	stop_gained	257313					extracellular region	hormone activity	g.chr3:190993092C>A	AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.283G>T	3.37:g.190993092C>A	ENSP00000340526:p.Glu95*						p.E95*	NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)	8	1070	-	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		95					B3KQY8|D3DNW1|Q2M1Z2	Nonsense_Mutation	SNP	ENST00000340524.5	37	c.283G>T	CCDS3300.1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833183	0.50951	.	.	ENSG00000188958	ENST00000340524;ENST00000427544	.	.	.	4.62	1.58	0.23477	.	0.449319	0.18233	N	0.147481	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.7139	2.1725	0.03853	0.1991:0.4906:0.1933:0.117	.	.	.	.	X	95	.	ENSP00000340526:E95X	E	-	1	0	UTS2D	192475786	0.000000	0.05858	0.002000	0.10522	0.120000	0.20174	0.373000	0.20484	0.114000	0.18032	0.467000	0.42956	GAG		0.358	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343353.1	NM_198152		26	115	1	0	8.58068e-18	0.007291	1.22623e-17	26	115				
ZNF595	152687	broad.mit.edu	37	4	53277	53277	+	5'UTR	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:53277G>T	ENST00000509152.2	+	0	80				ZNF595_ENST00000526473.2_5'UTR|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCTCGGCTCCGGGAGGCCTCG	0.602																																							uc003fzt.3		NA																	0					0						c.(-107--103)TAGGG>TATGG		zinc finger protein 718																																				SO:0001623	5_prime_UTR_variant	255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:53277G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.-106G>T	4.37:g.53277G>T						ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_5'UTR|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_5'UTR		NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	2	28	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Translation_Start_Site	SNP	ENST00000509152.2	37	c.-105G>T																																																																																					0.602	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		5	77	1	0	3.59834e-05	0.001168	4.11377e-05	5	77				
PPP2R2C	5522	broad.mit.edu	37	4	6473956	6473956	+	Start_Codon_SNP	SNP	T	T	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:6473956T>C	ENST00000382599.4	-	1	217	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000507294.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	1					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.M1V(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCTCGCCCATTGAAGGCCGT	0.657																																							uc003gjc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1-3)ATG>GTG		gamma isoform of regulatory subunit B55, protein							139.0	126.0	130.0					4																	6473956		2203	4300	6503	SO:0001582	initiator_codon_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6473956T>C	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.1A>G	4.37:g.6473956T>C	ENSP00000372042:p.Met1Val					PPP2R2C_uc011bwd.1_Intron|PPP2R2C_uc011bwe.1_Intron	p.M1V	NM_020416	NP_065149	Q9Y2T4	2ABG_HUMAN			1	371	-			1					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.1A>G		.	.	.	.	.	.	.	.	.	.	t	7.757	0.704540	0.15172	.	.	ENSG00000074211	ENST00000382599	T	0.28069	1.63	2.21	2.21	0.28008	.	1.086520	0.07548	U	0.914988	T	0.27419	0.0673	.	.	.	0.80722	D	1	B	0.22276	0.067	B	0.20384	0.029	T	0.08106	-1.0738	9	0.72032	D	0.01	.	8.9709	0.35905	0.0:0.0:0.0:1.0	.	1	Q9Y2T4	2ABG_HUMAN	V	1	ENSP00000372042:M1V	ENSP00000372042:M1V	M	-	1	0	PPP2R2C	6524857	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.382000	0.66213	0.642000	0.30620	0.128000	0.15822	ATG		0.657	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	NM_181876	Missense_Mutation	11	70	0	0	0	0.010729	0	11	70				
KIAA0232	9778	broad.mit.edu	37	4	6863504	6863504	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:6863504C>T	ENST00000307659.5	+	7	1850	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F	KIAA0232_ENST00000425103.1_Silent_p.F465F	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	465							ATP binding (GO:0005524)	p.F465F(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAGGTACTTTCATTGATGGTC	0.398																																							uc003gjr.3		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1393-1395)TTC>TTT		hypothetical protein LOC9778							69.0	68.0	68.0					4																	6863504		1852	4106	5958	SO:0001819	synonymous_variant	9778						ATP binding	g.chr4:6863504C>T	D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.1395C>T	4.37:g.6863504C>T						KIAA0232_uc003gjq.3_Silent_p.F465F	p.F465F	NM_014743	NP_055558	Q92628	K0232_HUMAN			7	1858	+			465					A7E2D2	Silent	SNP	ENST00000307659.5	37	c.1395C>T	CCDS43209.1																																																																																				0.398	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		9	98	0	0	0	0.004482	0	9	98				
GBA3	57733	broad.mit.edu	37	4	22748963	22748963	+	RNA	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:22748963G>C	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.2_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.G111R(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTTAAAAAATGGGGTTACTCC	0.373																																							uc003gqp.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(331-333)GGG>CGG		cytosolic beta-glucosidase isoform a							130.0	129.0	130.0					4																	22748963		1822	4077	5899			57733				glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	g.chr4:22748963G>C	AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22748963G>C						GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.G112R	p.G111R	NM_020973	NP_066024	Q9H227	GBA3_HUMAN			3	422	+			111					Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37	c.331G>C																																																																																					0.373	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			16	177	0	0	0	0.004007	0	16	177				
ARAP2	116984	broad.mit.edu	37	4	36069551	36069551	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:36069551T>A	ENST00000303965.4	-	33	5582	c.5093A>T	c.(5092-5094)cAg>cTg	p.Q1698L		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1698					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)	p.Q1698L(1)		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						CTGCTCATCCTGTAATTCTTT	0.338																																							uc003gsq.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(5092-5094)CAG>CTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							72.0	74.0	73.0					4																	36069551		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.chr4:36069551T>A	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.5093A>T	4.37:g.36069551T>A	ENSP00000302895:p.Gln1698Leu					ARAP2_uc003gso.2_Intron	p.Q1698L	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			33	5431	-			1698					Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.5093A>T	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	6.127	0.391575	0.11581	.	.	ENSG00000047365	ENST00000303965	T	0.08634	3.07	5.79	1.88	0.25563	.	0.424345	0.21731	N	0.069976	T	0.05318	0.0141	N	0.24115	0.695	0.09310	N	1	B	0.23650	0.089	B	0.18871	0.023	T	0.33007	-0.9885	10	0.59425	D	0.04	.	6.314	0.21180	0.0:0.0828:0.3161:0.6011	.	1698	Q8WZ64	ARAP2_HUMAN	L	1698	ENSP00000302895:Q1698L	ENSP00000302895:Q1698L	Q	-	2	0	ARAP2	35745946	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.178000	0.09782	0.422000	0.26005	0.528000	0.53228	CAG		0.338	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		14	83	0	0	0	0.001855	0	14	83				
TLR10	81793	broad.mit.edu	37	4	38776982	38776983	+	Missense_Mutation	DNP	AA	AA	TT			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	AA	AA	-	-	AA	AA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:38776982_38776983AA>TT	ENST00000308973.4	-	4	834_835	c.229_230TT>AA	c.(229-231)TTg>AAg	p.L77K	TLR10_ENST00000508334.1_Missense_Mutation_p.L77K|TLR10_ENST00000507953.1_5'Flank|TLR10_ENST00000361424.2_Missense_Mutation_p.L77K|TLR10_ENST00000506111.1_Missense_Mutation_p.L77K	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	77					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.L77K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GCATAGAATCAAAACTCTCAGT	0.381																																							uc003gti.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(229-231)TTG>AAG		toll-like receptor 10 precursor																																				SO:0001583	missense	81793				inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	g.chr4:38776982_38776983AA>TT	AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.229_230delinsTT	4.37:g.38776982_38776983delinsTT	ENSP00000308925:p.Leu77Lys					TLR10_uc003gtj.2_Missense_Mutation_p.L77K|TLR10_uc003gtk.2_Missense_Mutation_p.L77K	p.L77K	NM_030956	NP_112218	Q9BXR5	TLR10_HUMAN			2	608_609	-			77			LRR 3.|Extracellular (Potential).		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	DNP	ENST00000308973.4	37	c.229_230TT>AA	CCDS3445.1																																																																																				0.381	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250430.1			12	62	0	0	0	0.004672	0	12	62				
APBB2	323	broad.mit.edu	37	4	40827964	40827964	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:40827964C>T	ENST00000295974.8	-	15	2382	c.1753G>A	c.(1753-1755)Gag>Aag	p.E585K	APBB2_ENST00000504305.1_Missense_Mutation_p.E37K|RP11-632F7.3_ENST00000513127.1_RNA|Y_RNA_ENST00000384466.1_RNA|APBB2_ENST00000543538.1_Missense_Mutation_p.E37K|APBB2_ENST00000502841.1_Missense_Mutation_p.E37K|APBB2_ENST00000506352.1_Missense_Mutation_p.E564K|APBB2_ENST00000508593.1_Missense_Mutation_p.E586K|APBB2_ENST00000513140.1_Missense_Mutation_p.E563K	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	585	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.E563K(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGGACCAGCTCAGTCTTTGGT	0.448																																					Ovarian(3;20 75 16686 49997)	Ovarian(3;20 75 16686 49997)	uc003gvl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1753-1755)GAG>AAG		amyloid beta A4 precursor protein-binding,							178.0	174.0	175.0					4																	40827964		1985	4167	6152	SO:0001583	missense	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:40827964C>T	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1753G>A	4.37:g.40827964C>T	ENSP00000295974:p.Glu585Lys					APBB2_uc010ifu.2_Missense_Mutation_p.E157K|APBB2_uc003gvm.2_Missense_Mutation_p.E563K|APBB2_uc003gvn.2_Missense_Mutation_p.E586K|APBB2_uc003gvk.2_Missense_Mutation_p.E37K	p.E585K	NM_173075	NP_775098	Q92870	APBB2_HUMAN			15	2383	-			585			PID 2.		B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	ENST00000295974.8	37	c.1753G>A	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773773	0.96922	.	.	ENSG00000163697	ENST00000295974;ENST00000316212;ENST00000543538;ENST00000513140;ENST00000508593;ENST00000502841;ENST00000506352;ENST00000504305;ENST00000512510;ENST00000510670;ENST00000514920;ENST00000513516	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	5.82	5.82	0.92795	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);	0.102540	0.64402	D	0.000003	T	0.60689	0.2288	M	0.76838	2.35	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.995	D;D;D	0.83275	0.992;0.996;0.992	T	0.61917	-0.6964	10	0.72032	D	0.01	-29.0261	20.0953	0.97838	0.0:1.0:0.0:0.0	.	586;563;585	E9PG87;Q92870-2;Q92870	.;.;APBB2_HUMAN	K	585;584;37;563;586;37;564;37;99;37;37;37	ENSP00000295974:E585K;ENSP00000439357:E37K;ENSP00000426018:E563K;ENSP00000427211:E586K;ENSP00000425802:E37K;ENSP00000421539:E564K;ENSP00000423765:E37K;ENSP00000426429:E99K;ENSP00000427107:E37K;ENSP00000421751:E37K;ENSP00000421301:E37K	ENSP00000295974:E585K	E	-	1	0	APBB2	40522721	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	7.818000	0.86416	2.767000	0.95098	0.655000	0.94253	GAG		0.448	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		16	109	0	0	0	0.004007	0	16	109				
WDFY3	23001	broad.mit.edu	37	4	85707201	85707201	+	Silent	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:85707201C>A	ENST00000295888.4	-	24	4400	c.3993G>T	c.(3991-3993)gtG>gtT	p.V1331V	WDFY3_ENST00000322366.6_Silent_p.V1331V	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1331					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.V1331V(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTAGAGACGACACAGAGAGTG	0.443																																							uc003hpd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3991-3993)GTG>GTT		WD repeat and FYVE domain containing 3 isoform							167.0	146.0	153.0					4																	85707201		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85707201C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3993G>T	4.37:g.85707201C>A							p.V1331V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	24	4401	-		Hepatocellular(203;0.114)	1331					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.3993G>T	CCDS3609.1																																																																																				0.443	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		11	101	1	0	0.00136819	0.001368	0.00148017	11	101				
WDFY3	23001	broad.mit.edu	37	4	85707203	85707203	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:85707203C>A	ENST00000295888.4	-	24	4398	c.3991G>T	c.(3991-3993)Gtg>Ttg	p.V1331L	WDFY3_ENST00000322366.6_Missense_Mutation_p.V1331L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1331					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.V1331L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAGACGACACAGAGAGTGCA	0.433																																							uc003hpd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3991-3993)GTG>TTG		WD repeat and FYVE domain containing 3 isoform							164.0	144.0	151.0					4																	85707203		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85707203C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3991G>T	4.37:g.85707203C>A	ENSP00000295888:p.Val1331Leu						p.V1331L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	24	4399	-		Hepatocellular(203;0.114)	1331					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.3991G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.217718	0.58560	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.63580	-0.05;-0.05	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.53498	0.1800	L	0.37561	1.115	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47849	-0.9085	10	0.20046	T	0.44	.	18.6284	0.91350	0.0:1.0:0.0:0.0	.	1331	Q8IZQ1	WDFY3_HUMAN	L	1331	ENSP00000318466:V1331L;ENSP00000295888:V1331L	ENSP00000295888:V1331L	V	-	1	0	WDFY3	85926227	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	7.350000	0.79385	2.447000	0.82792	0.563000	0.77884	GTG		0.433	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		11	105	1	0	0.00136819	0.001368	0.00148017	11	105				
PDHA2	5161	broad.mit.edu	37	4	96761377	96761377	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:96761377C>A	ENST00000295266.4	+	1	139	c.76C>A	c.(76-78)Cgt>Agt	p.R26S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	26					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)	p.R26S(1)		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)		GGTGGCATCCCGTAACTCCTC	0.522																																							uc003htr.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(76-78)CGT>AGT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						56.0	56.0	56.0					4																	96761377		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761377C>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.76C>A	4.37:g.96761377C>A	ENSP00000295266:p.Arg26Ser						p.R26S	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	139	+		Hepatocellular(203;0.114)	26					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.76C>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914559	0.33815	.	.	ENSG00000163114	ENST00000295266	D	0.97328	-4.34	4.52	-4.39	0.03611	.	0.242826	0.40728	N	0.001028	D	0.92805	0.7712	M	0.71581	2.175	0.09310	N	1	B	0.28055	0.199	B	0.29716	0.106	D	0.83633	0.0146	10	0.18710	T	0.47	-3.6194	2.1172	0.03716	0.1577:0.4105:0.1615:0.2703	.	26	P29803	ODPAT_HUMAN	S	26	ENSP00000295266:R26S	ENSP00000295266:R26S	R	+	1	0	PDHA2	96980400	0.000000	0.05858	0.000000	0.03702	0.625000	0.37756	-0.660000	0.05317	-0.535000	0.06307	-0.670000	0.03821	CGT		0.522	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			3	26	1	0	6.4e-05	0.004672	7.25951e-05	3	26				
SLC9B2	133308	broad.mit.edu	37	4	103950041	103950041	+	Splice_Site	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:103950041C>T	ENST00000394785.3	-	11	1887		c.e11-1		SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000362026.3_Splice_Site|SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000503230.1_Splice_Site	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2						ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.?(2)									ACACAAAGGCCTGTAAGAAAT	0.299																																							uc003hwx.3		NA																	2	Unknown(2)		lung(2)		0						c.e11-1		Na+/H+ exchanger domain containing 2							41.0	45.0	44.0					4																	103950041		2201	4296	6497	SO:0001630	splice_region_variant	133308				sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity	g.chr4:103950041C>T	AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.1256-1G>A	4.37:g.103950041C>T						NHEDC2_uc010iln.1_Intron|NHEDC2_uc003hwy.2_Splice_Site_p.G419_splice|NHEDC2_uc011cew.1_Splice_Site_p.G362_splice|NHEDC2_uc011cex.1_Intron	p.G419_splice	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.3e-08)	11	2128	-								B5ME52|Q6ZMD8|Q96D95	Splice_Site	SNP	ENST00000394785.3	37	c.1256_splice	CCDS3662.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026012	0.75390	.	.	ENSG00000164038	ENST00000362026;ENST00000394785;ENST00000503230	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5409	0.91027	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC9B2	104169490	1.000000	0.71417	0.995000	0.50966	0.831000	0.47069	6.848000	0.75409	2.349000	0.79799	0.563000	0.77884	.		0.299	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253805.1	NM_178833	Intron	4	44	0	0	0	0.009096	0	4	44				
C4orf3	401152	broad.mit.edu	37	4	120221511	120221511	+	Silent	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:120221511G>C	ENST00000504110.1	-	1	565	c.180C>G	c.(178-180)ctC>ctG	p.L60L	C4orf3_ENST00000399075.4_Silent_p.L193L	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3	60						integral component of membrane (GO:0016021)		p.L193L(1)		breast(1)|large_intestine(1)|lung(4)	6						AATACACAAAGAGAAACACCA	0.488																																							uc003icv.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(178-180)CTC>CTG		hypothetical protein LOC401152							150.0	148.0	149.0					4																	120221511		1939	4135	6074	SO:0001819	synonymous_variant	401152					integral to membrane		g.chr4:120221511G>C		CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"""HCV F-transactivated protein 1"""						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.180C>G	4.37:g.120221511G>C							p.L60L	NM_001001701	NP_001001701	Q8WVX3	CD003_HUMAN			1	458	-			60			Helical; (Potential).		Q6J203	Silent	SNP	ENST00000504110.1	37	c.180C>G	CCDS43266.1																																																																																				0.488	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364576.3	NM_001001701		7	132	0	0	0	0.00308	0	7	132				
ADAD1	132612	broad.mit.edu	37	4	123333743	123333743	+	Missense_Mutation	SNP	A	A	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:123333743A>C	ENST00000296513.2	+	10	1213	c.1028A>C	c.(1027-1029)aAt>aCt	p.N343T	ADAD1_ENST00000388724.2_Missense_Mutation_p.N332T|ADAD1_ENST00000388725.2_Missense_Mutation_p.N325T	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	343	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)	p.N343T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGACGTCTTAATCCACATTCT	0.363																																							uc003ieo.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1027-1029)AAT>ACT		adenosine deaminase domain containing 1							111.0	109.0	110.0					4																	123333743		2203	4299	6502	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123333743A>C	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1028A>C	4.37:g.123333743A>C	ENSP00000296513:p.Asn343Thr					ADAD1_uc003iep.2_Missense_Mutation_p.N332T|ADAD1_uc003ieq.2_Missense_Mutation_p.N325T	p.N343T	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			10	1260	+			343			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1028A>C	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	A	5.914	0.352674	0.11182	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.92858	-3.12;-3.12;-3.12	5.45	4.23	0.50019	Adenosine deaminase/editase (3);	0.050236	0.85682	N	0.000000	T	0.80954	0.4723	N	0.17723	0.515	0.43080	D	0.994732	B;P	0.35468	0.447;0.503	B;B	0.37144	0.108;0.242	T	0.72906	-0.4150	10	0.07990	T	0.79	-14.1299	2.2478	0.04035	0.6001:0.1427:0.1196:0.1376	.	332;343	Q96M93-2;Q96M93	.;ADAD1_HUMAN	T	343;332;325	ENSP00000296513:N343T;ENSP00000373376:N332T;ENSP00000373377:N325T	ENSP00000296513:N343T	N	+	2	0	ADAD1	123553193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.052000	0.41316	0.868000	0.35678	0.460000	0.39030	AAT		0.363	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		12	142	0	0	0	0.001368	0	12	142				
JADE1	79960	broad.mit.edu	37	4	129767550	129767550	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:129767550C>T	ENST00000226319.6	+	4	439	c.159C>T	c.(157-159)atC>atT	p.I53I	PHF17_ENST00000511647.1_Silent_p.I53I|PHF17_ENST00000413543.2_Silent_p.I53I|PHF17_ENST00000452328.2_Silent_p.I53I|PHF17_ENST00000512960.1_Silent_p.I53I	NM_199320.2	NP_955352.1												p.I53I(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CAGACCTGATCACTGCCATGA	0.483																																							uc003igk.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(157-159)ATC>ATT		PHD finger protein 17 long isoform							193.0	178.0	183.0					4																	129767550		2203	4300	6503	SO:0001819	synonymous_variant	79960				apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding	g.chr4:129767550C>T																												ENST00000226319.6:c.159C>T	4.37:g.129767550C>T						PHF17_uc003igj.2_Silent_p.I53I|PHF17_uc003igl.2_Silent_p.I53I|PHF17_uc011cgy.1_Silent_p.I53I|PHF17_uc003igm.2_Silent_p.I53I	p.I53I	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN			4	439	+			53						Silent	SNP	ENST00000226319.6	37	c.159C>T	CCDS34062.1																																																																																				0.483	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364280.1			27	172	0	0	0	0.009535	0	27	172				
PCDH10	57575	broad.mit.edu	37	4	134072378	134072378	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:134072378C>G	ENST00000264360.5	+	1	1909	c.1083C>G	c.(1081-1083)agC>agG	p.S361R	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	361	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)	p.S361R(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCAGCTTCAGCACCGTGAAGG	0.627																																							uc003iha.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1081-1083)AGC>AGG		protocadherin 10 isoform 1 precursor							91.0	90.0	90.0					4																	134072378		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072378C>G	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1083C>G	4.37:g.134072378C>G	ENSP00000264360:p.Ser361Arg					uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.S361R	p.S361R	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	1909	+			361			Cadherin 4.|Extracellular (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1083C>G	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016165	0.35606	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.02631	4.22	4.68	2.88	0.33553	Cadherin (2);Cadherin-like (1);	0.000000	0.53938	D	0.000050	T	0.05914	0.0154	N	0.17379	0.485	0.58432	D	0.999997	D;B	0.71674	0.998;0.047	D;B	0.78314	0.991;0.032	T	0.42849	-0.9427	10	0.87932	D	0	.	9.7993	0.40755	0.0:0.8248:0.0:0.1752	.	361;361	Q9P2E7;Q96SF0	PCD10_HUMAN;.	R	361	ENSP00000264360:S361R	ENSP00000264360:S361R	S	+	3	2	PCDH10	134291828	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.953000	0.56699	0.532000	0.28657	0.561000	0.74099	AGC		0.627	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		6	55	0	0	0	0.001168	0	6	55				
FSTL5	56884	broad.mit.edu	37	4	162680590	162680590	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:162680590C>G	ENST00000306100.5	-	6	1136	c.700G>C	c.(700-702)Gct>Cct	p.A234P	FSTL5_ENST00000536695.1_Missense_Mutation_p.A233P|FSTL5_ENST00000427802.2_Missense_Mutation_p.A233P|FSTL5_ENST00000379164.4_Missense_Mutation_p.A233P	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	234	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.A234P(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTTCAAGAGCCAGGTGCTTG	0.348																																							uc003iqh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(700-702)GCT>CCT		follistatin-like 5 isoform a							95.0	102.0	99.0					4																	162680590		2203	4298	6501	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162680590C>G	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.700G>C	4.37:g.162680590C>G	ENSP00000305334:p.Ala234Pro					FSTL5_uc003iqi.2_Missense_Mutation_p.A233P|FSTL5_uc010iqv.2_Missense_Mutation_p.A233P	p.A234P	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	6	1136	-	all_hematologic(180;0.24)		234			2 (Potential).|EF-hand 2.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.700G>C	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930738	0.73327	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.37	5.37	0.77165	EF-hand-like domain (1);	0.166056	0.53938	D	0.000052	T	0.18923	0.0454	L	0.29908	0.895	0.38386	D	0.945278	B;P;B	0.40250	0.337;0.709;0.337	B;B;B	0.37480	0.188;0.251;0.188	T	0.05115	-1.0905	10	0.41790	T	0.15	.	11.5462	0.50694	0.0:0.9181:0.0:0.0819	.	233;233;234	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	P	234;233;233;233	ENSP00000305334:A234P;ENSP00000368462:A233P;ENSP00000389270:A233P;ENSP00000440409:A233P	ENSP00000305334:A234P	A	-	1	0	FSTL5	162900040	0.995000	0.38212	1.000000	0.80357	0.933000	0.57130	0.375000	0.20518	2.510000	0.84645	0.579000	0.79373	GCT		0.348	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		10	82	0	0	0	0.006214	0	10	82				
SORBS2	8470	broad.mit.edu	37	4	186544288	186544288	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:186544288G>A	ENST00000284776.7	-	13	2792	c.2283C>T	c.(2281-2283)atC>atT	p.I761I	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Silent_p.I761I|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Silent_p.I861I|SORBS2_ENST00000418609.1_Silent_p.I665I|SORBS2_ENST00000319471.9_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	761					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)	p.I761I(1)		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)		GCAGCTCACTGATGAGGCGGT	0.572																																					Esophageal Squamous(153;41 2433 9491 36028)	Esophageal Squamous(153;41 2433 9491 36028)	uc003iyl.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2281-2283)ATC>ATT		sorbin and SH3 domain containing 2 isoform 2							145.0	163.0	157.0					4																	186544288		2203	4300	6503	SO:0001819	synonymous_variant	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.chr4:186544288G>A		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.2283C>T	4.37:g.186544288G>A						SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.I861I|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.I665I|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.I875I|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	p.I761I	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)	13	3141	-		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)	761					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.2283C>T	CCDS3845.1																																																																																				0.572	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		26	248	0	0	0	0.008361	0	26	248				
PLEKHG4B	153478	broad.mit.edu	37	5	182155	182155	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:182155C>T	ENST00000283426.6	+	18	3583	c.3533C>T	c.(3532-3534)tCt>tTt	p.S1178F		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1178	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1178F(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTGTCCTCCTCTGACCACGCC	0.617																																							uc003jak.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(3532-3534)TCT>TTT		pleckstrin homology domain containing, family G							108.0	99.0	102.0					5																	182155		2203	4300	6503	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:182155C>T	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.3533C>T	5.37:g.182155C>T	ENSP00000283426:p.Ser1178Phe						p.S1178F	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	18	3583	+			1178			Ser-rich.			Missense_Mutation	SNP	ENST00000283426.6	37	c.3533C>T	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.426997	0.01117	.	.	ENSG00000153404	ENST00000283426	T	0.24538	1.85	3.55	-3.4	0.04853	.	.	.	.	.	T	0.07638	0.0192	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36089	-0.9762	9	0.08179	T	0.78	.	4.6888	0.12771	0.0:0.2446:0.3845:0.3709	.	1178	Q96PX9	PKH4B_HUMAN	F	1178	ENSP00000283426:S1178F	ENSP00000283426:S1178F	S	+	2	0	PLEKHG4B	235155	0.983000	0.35010	0.000000	0.03702	0.003000	0.03518	3.530000	0.53539	-0.989000	0.03485	-1.468000	0.01013	TCT		0.617	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		10	57	0	0	0	0.008291	0	10	57				
TRIP13	9319	broad.mit.edu	37	5	911998	911998	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:911998G>A	ENST00000166345.3	+	10	1263	c.907G>A	c.(907-909)Gag>Aag	p.E303K		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	303					double-strand break repair (GO:0006302)|female meiosis I (GO:0007144)|male meiosis I (GO:0007141)|oocyte maturation (GO:0001556)|oogenesis (GO:0048477)|reciprocal meiotic recombination (GO:0007131)|regulation of RNA biosynthetic process (GO:2001141)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transcription cofactor activity (GO:0003712)	p.E303K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			TAACATCACCGAGAAGATCGA	0.512																																							uc003jbr.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(907-909)GAG>AAG		thyroid hormone receptor interactor 13							168.0	130.0	143.0					5																	911998		2203	4300	6503	SO:0001583	missense	9319				double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	g.chr5:911998G>A	L40384	CCDS3858.1	5p15	2010-04-21			ENSG00000071539	ENSG00000071539		"""ATPases / AAA-type"""	12307	protein-coding gene	gene with protein product	"""thyroid receptor interacting protein 13"""	604507				7776974	Standard	NM_004237		Approved	16E1BP	uc003jbr.3	Q15645	OTTHUMG00000090349	ENST00000166345.3:c.907G>A	5.37:g.911998G>A	ENSP00000166345:p.Glu303Lys						p.E303K	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)		10	1017	+			303					C9K0T3|D3DTC0|O15324	Missense_Mutation	SNP	ENST00000166345.3	37	c.907G>A	CCDS3858.1	.	.	.	.	.	.	.	.	.	.	.	18.36	3.606136	0.66445	.	.	ENSG00000071539	ENST00000166345	D	0.95377	-3.69	5.78	5.78	0.91487	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.046101	0.85682	D	0.000000	D	0.94384	0.8194	L	0.54323	1.7	0.80722	D	1	P	0.50943	0.94	B	0.43251	0.413	D	0.93686	0.7003	10	0.39692	T	0.17	-10.0796	19.6057	0.95580	0.0:0.0:1.0:0.0	.	303	Q15645	PCH2_HUMAN	K	303	ENSP00000166345:E303K	ENSP00000166345:E303K	E	+	1	0	TRIP13	964998	1.000000	0.71417	0.981000	0.43875	0.718000	0.41266	7.192000	0.77771	2.722000	0.93159	0.655000	0.94253	GAG		0.512	TRIP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206721.2	NM_004237		9	90	0	0	0	0.004482	0	9	90				
TRIO	7204	broad.mit.edu	37	5	14508363	14508363	+	Silent	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:14508363G>C	ENST00000344204.4	+	57	9150	c.9126G>C	c.(9124-9126)gcG>gcC	p.A3042A	TRIO_ENST00000537187.1_Silent_p.A2866A|TRIO_ENST00000344135.5_Silent_p.A541A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3042	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)					CCTCGGCTGCGCTGGCCCTCC	0.617																																							uc003jff.2		NA																	0		p.A3042V(1)		skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(9124-9126)GCG>GCC		triple functional domain (PTPRF interacting)							41.0	45.0	44.0					5																	14508363		2203	4300	6503	SO:0001819	synonymous_variant	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.chr5:14508363G>C	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.9126G>C	5.37:g.14508363G>C						TRIO_uc003jfg.2_RNA	p.A3042A	NM_007118	NP_009049	O75962	TRIO_HUMAN			57	9132	+	Lung NSC(4;0.000742)		3042			Protein kinase.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.9126G>C	CCDS3883.1																																																																																				0.617	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		16	51	0	0	0	0.004007	0	16	51				
PRDM9	56979	broad.mit.edu	37	5	23522899	23522899	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:23522899G>A	ENST00000296682.3	+	8	969	c.787G>A	c.(787-789)Gag>Aag	p.E263K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	263	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.E263K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTATGGAATGAGGCATCTGA	0.577										HNSCC(3;0.000094)																													uc003jgo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(787-789)GAG>AAG		PR domain containing 9							71.0	68.0	69.0					5																	23522899		2203	4300	6503	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23522899G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.787G>A	5.37:g.23522899G>A	ENSP00000296682:p.Glu263Lys	HNSCC(3;0.000094)					p.E263K	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	969	+			263			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.787G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449182	0.63178	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.56776	0.44	4.14	3.17	0.36434	SET domain (1);	0.000000	0.36893	N	0.002355	T	0.52386	0.1731	N	0.17345	0.48	0.32278	N	0.567987	D	0.63880	0.993	D	0.72625	0.978	T	0.60637	-0.7224	10	0.72032	D	0.01	-37.8878	9.3062	0.37876	0.0:0.2212:0.7788:0.0	.	263	Q9NQV7	PRDM9_HUMAN	K	263;57	ENSP00000296682:E263K	ENSP00000253473:E57K	E	+	1	0	PRDM9	23558656	0.012000	0.17670	0.467000	0.27180	0.840000	0.47671	0.334000	0.19787	2.012000	0.59069	0.597000	0.82753	GAG		0.577	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		4	54	0	0	0	0.009096	0	4	54				
CDH10	1008	broad.mit.edu	37	5	24535931	24535931	+	Splice_Site	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:24535931C>A	ENST00000264463.4	-	4	1034	c.527G>T	c.(526-528)gGt>gTt	p.G176V		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	176	Cadherin 2. {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)	p.G176V(1)		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)		CACAGAAGTACCTGAAGTATC	0.443										HNSCC(23;0.051)																													uc003jgr.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(526-528)GGT>GTT		cadherin 10, type 2 preproprotein							93.0	85.0	88.0					5																	24535931		2203	4300	6503	SO:0001630	splice_region_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535931C>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.527-1G>T	5.37:g.24535931C>A		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G176V	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	859	-			176			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.527G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056983	0.93846	.	.	ENSG00000040731	ENST00000264463	T	0.69175	-0.38	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.87853	0.6282	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89837	0.4000	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	176	Q9Y6N8	CAD10_HUMAN	V	176	ENSP00000264463:G176V	ENSP00000264463:G176V	G	-	2	0	CDH10	24571688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGT		0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727	Missense_Mutation	18	43	1	0	5.03518e-11	0.007413	6.78307e-11	18	43				
NPR3	4883	broad.mit.edu	37	5	32712263	32712263	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:32712263G>T	ENST00000265074.8	+	1	724	c.381G>T	c.(379-381)aaG>aaT	p.K127N	NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.K127N	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	127					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.K127N(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGGGCGCCAAGCCAGACCTTA	0.687																																							uc003jhv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(379-381)AAG>AAT		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						50.0	59.0	56.0					5																	32712263		1925	4121	6046	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32712263G>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.381G>T	5.37:g.32712263G>T	ENSP00000265074:p.Lys127Asn					NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Missense_Mutation_p.K127N	p.K127N	NM_000908	NP_000899	P17342	ANPRC_HUMAN			1	599	+			127			Extracellular (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.381G>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	9.871	1.198895	0.22121	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	T;T	0.23754	1.89;1.89	5.37	4.31	0.51392	Extracellular ligand-binding receptor (1);	0.244647	0.41396	D	0.000893	T	0.23766	0.0575	N	0.17564	0.495	0.80722	D	1	P;P	0.52692	0.955;0.955	P;P	0.56514	0.8;0.8	T	0.01545	-1.1328	10	0.11485	T	0.65	-19.5563	11.2448	0.48990	0.1601:0.0:0.8399:0.0	.	127;127	P17342;Q60I31	ANPRC_HUMAN;.	N	127	ENSP00000265074:K127N;ENSP00000398028:K127N	ENSP00000265074:K127N	K	+	3	2	NPR3	32748020	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	1.929000	0.40114	2.539000	0.85634	0.561000	0.74099	AAG		0.687	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		8	122	1	0	0.00621372	0.006214	0.00658747	8	122				
NIPBL	25836	broad.mit.edu	37	5	36976076	36976076	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:36976076C>T	ENST00000282516.8	+	9	1566	c.1067C>T	c.(1066-1068)aCt>aTt	p.T356I	NIPBL_ENST00000448238.2_Missense_Mutation_p.T356I|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	356					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.T356I(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGGACTCTACTAAACTTACA	0.368																																							uc003jkl.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.(1066-1068)ACT>ATT		delangin isoform A							103.0	108.0	106.0					5																	36976076		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:36976076C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.1067C>T	5.37:g.36976076C>T	ENSP00000282516:p.Thr356Ile					NIPBL_uc003jkk.3_Missense_Mutation_p.T356I|NIPBL_uc003jkm.1_Missense_Mutation_p.T235I	p.T356I	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		9	1566	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		356					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.1067C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615531	0.66672	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95821	-3.81;-3.82	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95255	0.8461	L	0.27053	0.805	0.52501	D	0.999957	D;D	0.65815	0.991;0.995	P;P	0.58721	0.703;0.844	D	0.96045	0.9027	10	0.66056	D	0.02	.	18.8167	0.92079	0.0:1.0:0.0:0.0	.	356;356	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	I	356	ENSP00000282516:T356I;ENSP00000406266:T356I	ENSP00000282516:T356I	T	+	2	0	NIPBL	37011833	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.485000	0.81204	2.447000	0.82792	0.467000	0.42956	ACT		0.368	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		20	64	0	0	0	0.010504	0	20	64				
ITGA1	3672	broad.mit.edu	37	5	52240860	52240860	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:52240860A>G	ENST00000282588.6	+	27	3831	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1125					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.R1125G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAATCAAAAAAGAGAGGTAAG	0.333																																							uc003jou.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(3373-3375)AGA>GGA		integrin, alpha 1 precursor							108.0	121.0	117.0					5																	52240860		2203	4300	6503	SO:0001583	missense	3672				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	g.chr5:52240860A>G	X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3373A>G	5.37:g.52240860A>G	ENSP00000282588:p.Arg1125Gly					ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.R656G	p.R1125G	NM_181501	NP_852478	P56199	ITA1_HUMAN			27	3425	+		Lung NSC(810;5.05e-05)|Breast(144;0.0851)	1125			Extracellular (Potential).		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	c.3373A>G	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.079200	0.36662	.	.	ENSG00000213949	ENST00000282588	T	0.49720	0.77	5.63	1.74	0.24563	.	0.191344	0.43747	D	0.000524	T	0.31670	0.0804	L	0.41906	1.305	0.33625	D	0.60529	P	0.38335	0.627	B	0.29663	0.105	T	0.39563	-0.9608	10	0.25751	T	0.34	.	11.9364	0.52876	0.5549:0.4451:0.0:0.0	.	1125	P56199	ITA1_HUMAN	G	1125	ENSP00000282588:R1125G	ENSP00000282588:R1125G	R	+	1	2	ITGA1	52276617	0.988000	0.35896	0.994000	0.49952	0.998000	0.95712	0.719000	0.25881	0.110000	0.17919	0.533000	0.62120	AGA		0.333	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3	NM_181501		15	128	0	0	0	0.003163	0	15	128				
MAP3K1	4214	broad.mit.edu	37	5	56189376	56189376	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:56189376G>T	ENST00000399503.3	+	20	4408	c.4408G>T	c.(4408-4410)Gct>Tct	p.A1470S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1470	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.A1470S(1)|p.A1307S(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TGCAACTACTGCTCCATCGAT	0.448																																							uc003jqw.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(4408-4410)GCT>TCT		mitogen-activated protein kinase kinase kinase							125.0	120.0	121.0					5																	56189376		1991	4161	6152	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56189376G>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4408G>T	5.37:g.56189376G>T	ENSP00000382423:p.Ala1470Ser						p.A1470S	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	20	4909	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	1470			Protein kinase.			Missense_Mutation	SNP	ENST00000399503.3	37	c.4408G>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.906207	0.92107	.	.	ENSG00000095015	ENST00000399503	T	0.24350	1.86	6.17	6.17	0.99709	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	0.36358	0.0964	N	0.12422	0.21	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.17776	-1.0358	10	0.33141	T	0.24	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1470	Q13233	M3K1_HUMAN	S	1470	ENSP00000382423:A1470S	ENSP00000382423:A1470S	A	+	1	0	MAP3K1	56225133	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.554000	0.90689	2.941000	0.99782	0.655000	0.94253	GCT		0.448	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066		4	41	1	0	2.0095e-06	0.001984	2.38769e-06	4	41				
TAF9	6880	broad.mit.edu	37	5	68661433	68661433	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:68661433G>C	ENST00000328663.4	-	3	598	c.132C>G	c.(130-132)ttC>ttG	p.F44L	TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000506736.1_Missense_Mutation_p.F44L|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.F44L	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	44					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)	p.F44L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TCACATATCGGAAGGCAAACT	0.418																																							uc003jwc.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(130-132)TTC>TTG		TAF9 RNA polymerase II, TATA box binding							134.0	131.0	132.0					5																	68661433		2203	4300	6503	SO:0001583	missense	6880				histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr5:68661433G>C	U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.132C>G	5.37:g.68661433G>C	ENSP00000370193:p.Phe44Leu					TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.F44L|TAF9_uc003jwe.1_Missense_Mutation_p.F44L|TAF9_uc003jwf.1_Missense_Mutation_p.F44L	p.F44L	NM_003187	NP_003178	Q16594	TAF9_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)	2	464	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	44					D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	ENST00000328663.4	37	c.132C>G	CCDS4002.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159809	0.38119	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245;ENST00000509462;ENST00000504109;ENST00000512152;ENST00000508954	T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.22	4.36	0.52297	Histone-fold (2);	0.054268	0.85682	D	0.000000	T	0.38825	0.1055	L	0.38175	1.15	0.44241	D	0.997089	B	0.19200	0.034	B	0.19666	0.026	T	0.32534	-0.9903	10	0.66056	D	0.02	-8.7584	11.7682	0.51943	0.085:0.0:0.915:0.0	.	44	Q16594	TAF9_HUMAN	L	44	ENSP00000421873:F44L;ENSP00000370193:F44L;ENSP00000217893:F44L;ENSP00000425944:F44L;ENSP00000427343:F44L;ENSP00000426283:F44L;ENSP00000425798:F44L;ENSP00000427617:F44L	ENSP00000217893:F44L	F	-	3	2	TAF9	68697189	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.886000	0.56190	1.586000	0.49944	0.655000	0.94253	TTC		0.418	TAF9-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216803.1	NM_003187		24	145	0	0	0	0.00278	0	24	145				
SV2C	22987	broad.mit.edu	37	5	75490824	75490824	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:75490824C>T	ENST00000502798.2	+	3	1103	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	SV2C_ENST00000322285.7_Missense_Mutation_p.L221F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	221					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.L221F(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GAAACAGTCTCTTCTGATTTG	0.478																																							uc003kei.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(661-663)CTT>TTT		synaptic vesicle glycoprotein 2C							359.0	355.0	356.0					5																	75490824		1987	4144	6131	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75490824C>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.661C>T	5.37:g.75490824C>T	ENSP00000423541:p.Leu221Phe						p.L221F	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	3	795	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	221			Cytoplasmic (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.661C>T	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958065	0.92726	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.79033	-1.23;-1.23	5.15	5.15	0.70609	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85745	0.5768	L	0.49350	1.555	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.86936	0.2076	10	0.87932	D	0	-17.6861	18.9956	0.92812	0.0:1.0:0.0:0.0	.	221	Q496J9	SV2C_HUMAN	F	221	ENSP00000423541:L221F;ENSP00000316983:L221F	ENSP00000316983:L221F	L	+	1	0	SV2C	75526580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.557000	0.86248	0.655000	0.94253	CTT		0.478	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			28	258	0	0	0	0.007291	0	28	258				
MCC	4163	broad.mit.edu	37	5	112418659	112418659	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:112418659C>G	ENST00000302475.4	-	9	1675	c.1112G>C	c.(1111-1113)tGc>tCc	p.C371S	MCC_ENST00000515367.2_Missense_Mutation_p.C308S|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.C561S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	371					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.C371S(1)|p.C561S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GATATTGGAGCAGTCCTGAAG	0.448																																							uc003kqj.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1111-1113)TGC>TCC		mutated in colorectal cancers isoform 2							165.0	153.0	157.0					5																	112418659		2202	4300	6502	SO:0001583	missense	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112418659C>G		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1112G>C	5.37:g.112418659C>G	ENSP00000305617:p.Cys371Ser					MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.C561S|MCC_uc011cwb.1_Missense_Mutation_p.C371S|MCC_uc010jcd.1_Missense_Mutation_p.C333S	p.C371S	NM_002387	NP_002378	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	9	1642	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	371					D3DT05|Q6ZR04	Missense_Mutation	SNP	ENST00000302475.4	37	c.1112G>C	CCDS4111.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380547	0.42207	.	.	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.37058	2.36;2.36;1.22	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	N	0.24115	0.695	0.58432	D	0.999999	P;P;D;P	0.53462	0.932;0.462;0.96;0.736	P;B;D;B	0.69142	0.879;0.152;0.962;0.175	T	0.12863	-1.0531	10	0.09338	T	0.73	-17.1449	18.4913	0.90849	0.0:1.0:0.0:0.0	.	371;333;561;371	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	S	371;308;561	ENSP00000305617:C371S;ENSP00000421615:C308S;ENSP00000386227:C561S	ENSP00000305617:C371S	C	-	2	0	MCC	112446558	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.156000	0.71840	2.433000	0.82419	0.467000	0.42956	TGC		0.448	MCC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250736.3	NM_001085377		6	69	0	0	0	0.001168	0	6	69				
HSPA4	3308	broad.mit.edu	37	5	132439557	132439557	+	Splice_Site	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:132439557G>T	ENST00000304858.2	+	18	2447	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	720					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.E720*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGTTGCAGGAGGACCAGTA	0.408																																					Colon(114;1299 1588 6063 12302 48757)	Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NA																	1	Substitution - Nonsense(1)		lung(1)	lung(1)|breast(1)	2						c.(2158-2160)GAG>TAG		heat shock 70kDa protein 4							123.0	116.0	118.0					5																	132439557		2203	4300	6503	SO:0001630	splice_region_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132439557G>T	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2158-1G>T	5.37:g.132439557G>T							p.E720*	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		18	2439	+			720					O95756|Q2TAL4|Q9BUK9	Nonsense_Mutation	SNP	ENST00000304858.2	37	c.2158G>T	CCDS4166.1	.	.	.	.	.	.	.	.	.	.	G	42	9.531632	0.99196	.	.	ENSG00000170606	ENST00000304858	.	.	.	5.65	5.65	0.86999	.	0.138616	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.8196	19.7171	0.96127	0.0:0.0:1.0:0.0	.	.	.	.	X	720	.	.	E	+	1	0	HSPA4	132467456	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.215000	0.95146	2.648000	0.89879	0.643000	0.83706	GAG		0.408	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431	Nonsense_Mutation	7	78	1	0	2.7689e-08	0.001984	3.5385e-08	7	78				
HSPA4	3308	broad.mit.edu	37	5	132439655	132439655	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:132439655G>A	ENST00000304858.2	+	18	2545	c.2256G>A	c.(2254-2256)caG>caA	p.Q752Q		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	752					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.Q752Q(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAATCTGCAGAACAAGCAGA	0.358																																					Colon(114;1299 1588 6063 12302 48757)	Colon(114;1299 1588 6063 12302 48757)	uc003kyj.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(1)|breast(1)	2						c.(2254-2256)CAG>CAA		heat shock 70kDa protein 4							134.0	130.0	131.0					5																	132439655		2203	4300	6503	SO:0001819	synonymous_variant	3308				cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding	g.chr5:132439655G>A	AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.2256G>A	5.37:g.132439655G>A							p.Q752Q	NM_002154	NP_002145	P34932	HSP74_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		18	2537	+			752					O95756|Q2TAL4|Q9BUK9	Silent	SNP	ENST00000304858.2	37	c.2256G>A	CCDS4166.1																																																																																				0.358	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251011.1	NM_002154, NM_198431		7	77	0	0	0	0.001984	0	7	77				
SEC24A	10802	broad.mit.edu	37	5	134023904	134023904	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:134023904C>T	ENST00000398844.2	+	11	1926	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	SEC24A_ENST00000322887.4_Silent_p.F546F	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	546					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.F546F(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAATTGGCTTCATAACATTTG	0.323																																							uc003kzs.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1636-1638)TTC>TTT		SEC24 related gene family, member A							119.0	111.0	113.0					5																	134023904		1821	4072	5893	SO:0001819	synonymous_variant	10802				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr5:134023904C>T	AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1638C>T	5.37:g.134023904C>T						SEC24A_uc011cxu.1_Silent_p.F310F	p.F546F	NM_021982	NP_068817	O95486	SC24A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1926	+			546					A8MVW3|Q8WUV2|Q96GP7	Silent	SNP	ENST00000398844.2	37	c.1638C>T	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	C	9.586	1.124782	0.20959	.	.	ENSG00000113615	ENST00000513123	.	.	.	5.78	2.64	0.31445	.	.	.	.	.	T	0.62048	0.2396	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59413	-0.7459	4	.	.	.	-15.4415	12.0126	0.53297	0.0:0.7819:0.0:0.2181	.	.	.	.	L	92	.	.	S	+	2	0	SEC24A	134051803	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.618000	0.36954	0.803000	0.34113	0.650000	0.86243	TCA		0.323	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			7	90	0	0	0	0.00308	0	7	90				
PCDHA6	56142	broad.mit.edu	37	5	140209494	140209494	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:140209494G>T	ENST00000529310.1	+	1	1932	c.1818G>T	c.(1816-1818)tgG>tgT	p.W606C	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	606	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.W606C(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACGCGTGGCTTTCGTATG	0.657																																							uc003lho.2		NA																	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(1816-1818)TGG>TGT		protocadherin alpha 6 isoform 1 precursor							84.0	85.0	84.0					5																	140209494		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209494G>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1818G>T	5.37:g.140209494G>T	ENSP00000433378:p.Trp606Cys					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.W606C	p.W606C	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1845	+			606			Cadherin 6.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.1818G>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584606	0.46110	.	.	ENSG00000081842	ENST00000529310	T	0.51071	0.72	3.87	3.87	0.44632	Cadherin (4);Cadherin-like (1);	0.000000	0.34959	U	0.003541	T	0.78310	0.4263	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86666	0.1907	10	0.87932	D	0	.	16.4164	0.83743	0.0:0.0:1.0:0.0	.	606;606	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	C	606	ENSP00000433378:W606C	ENSP00000433378:W606C	W	+	3	0	PCDHA6	140189678	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	6.939000	0.75911	2.158000	0.67659	0.306000	0.20318	TGG		0.657	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		8	51	1	0	1.12685e-05	0.004482	1.32038e-05	8	51				
PCDHA12	56137	broad.mit.edu	37	5	140256157	140256157	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:140256157C>T	ENST00000398631.2	+	1	1100	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I	PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	367	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)	p.T367I(1)		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)			CAGGTGGGTACCGTCATTGCC	0.532																																					Pancreas(113;759 1672 13322 24104 50104)	Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1099-1101)ACC>ATC		protocadherin alpha 12 isoform 1 precursor							106.0	105.0	105.0					5																	140256157		2203	4300	6503	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140256157C>T	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	ENST00000398631.2:c.1100C>T	5.37:g.140256157C>T	ENSP00000381628:p.Thr367Ile					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_Missense_Mutation_p.T367I	p.T367I	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1227	+			367			Cadherin 4.|Extracellular (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1100C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.551697	0.27739	.	.	ENSG00000251664	ENST00000398631	T	0.58210	0.35	4.63	4.63	0.57726	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.76681	0.4021	M	0.87617	2.895	0.32369	N	0.556094	D;D	0.67145	0.989;0.996	D;D	0.72982	0.934;0.979	D	0.83514	0.0082	9	0.72032	D	0.01	.	17.8347	0.88692	0.0:1.0:0.0:0.0	.	367;367	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	I	367	ENSP00000381628:T367I	ENSP00000381628:T367I	T	+	2	0	PCDHA12	140236341	1.000000	0.71417	0.176000	0.23000	0.110000	0.19582	4.485000	0.60279	2.272000	0.75746	0.655000	0.94253	ACC		0.532	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		8	48	0	0	0	0.00308	0	8	48				
PCDHGB1	56104	broad.mit.edu	37	5	140730766	140730766	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:140730766G>C	ENST00000523390.1	+	1	939	c.939G>C	c.(937-939)ttG>ttC	p.L313F	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	313	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L313F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATGTGTTGAGTGTGGAAG	0.418																																							uc003ljo.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(937-939)TTG>TTC		protocadherin gamma subfamily B, 1 isoform 1							110.0	110.0	110.0					5																	140730766		1961	4164	6125	SO:0001583	missense	56104				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140730766G>C	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.939G>C	5.37:g.140730766G>C	ENSP00000429273:p.Leu313Phe					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.L313F	p.L313F	NM_018922	NP_061745	Q9Y5G3	PCDGD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	939	+			313			Extracellular (Potential).|Cadherin 3.		Q3SY75|Q9Y5C8	Missense_Mutation	SNP	ENST00000523390.1	37	c.939G>C	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	1.304	-0.604025	0.03717	.	.	ENSG00000254221	ENST00000523390	T	0.56776	0.44	5.23	2.2	0.27929	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.47746	0.1462	L	0.46819	1.47	0.09310	N	1	B;B	0.27700	0.154;0.186	B;B	0.35688	0.132;0.208	T	0.45086	-0.9285	9	0.42905	T	0.14	.	8.7469	0.34591	0.0728:0.0:0.578:0.3492	.	313;313	Q9Y5G3-2;Q9Y5G3	.;PCDGD_HUMAN	F	313	ENSP00000429273:L313F	ENSP00000429273:L313F	L	+	3	2	PCDHGB1	140710950	0.000000	0.05858	0.733000	0.30861	0.320000	0.28249	-1.784000	0.01769	0.668000	0.31126	0.563000	0.77884	TTG		0.418	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		7	100	0	0	0	0.00308	0	7	100				
ARAP3	64411	broad.mit.edu	37	5	141036183	141036183	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:141036183C>A	ENST00000239440.4	-	27	3742	c.3677G>T	c.(3676-3678)cGg>cTg	p.R1226L	ARAP3_ENST00000508305.1_Missense_Mutation_p.R1057L|ARAP3_ENST00000513878.1_Missense_Mutation_p.R888L|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1226	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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)	p.R1226L(1)		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						CAGCCCCACCCGTGGGCTCTC	0.642																																							uc003llm.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(5)|ovary(1)|large_intestine(1)	7						c.(3676-3678)CGG>CTG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							23.0	24.0	23.0					5																	141036183		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.chr5:141036183C>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.3677G>T	5.37:g.141036183C>A	ENSP00000239440:p.Arg1226Leu					ARAP3_uc003lll.2_Missense_Mutation_p.R177L|ARAP3_uc011dbe.1_Missense_Mutation_p.R888L|ARAP3_uc003lln.2_Missense_Mutation_p.R1057L	p.R1226L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN			27	3755	-			1226			PH 3.		B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.3677G>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656225	0.67586	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	T;T;T	0.11712	2.75;2.75;2.75	5.64	5.64	0.86602	Pleckstrin homology domain (2);	0.055537	0.64402	D	0.000003	T	0.06234	0.0161	N	0.11427	0.14	0.38132	D	0.938195	B;B;B	0.29766	0.009;0.256;0.006	B;B;B	0.29785	0.015;0.107;0.013	T	0.25293	-1.0136	10	0.66056	D	0.02	.	7.7762	0.29039	0.0:0.801:0.0:0.199	.	888;1057;1226	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	L	1057;1226;888	ENSP00000421826:R1057L;ENSP00000239440:R1226L;ENSP00000421468:R888L	ENSP00000239440:R1226L	R	-	2	0	ARAP3	141016367	0.991000	0.36638	0.214000	0.23707	0.795000	0.44927	4.199000	0.58426	2.662000	0.90505	0.591000	0.81541	CGG		0.642	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		5	11	1	0	5.9392e-07	0.001168	7.28198e-07	5	11				
PCDH1	5097	broad.mit.edu	37	5	141243094	141243094	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:141243094C>T	ENST00000394536.3	-	3	2941	c.2802G>A	c.(2800-2802)caG>caA	p.Q934Q	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.Q922Q|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.Q912Q|PCDH1_ENST00000287008.3_Silent_p.Q934Q	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	934					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q934Q(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGAGGGACTTCTGCAGCCCGG	0.622																																					Ovarian(132;1609 1739 4190 14731 45037)	Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(2800-2802)CAG>CAA		protocadherin 1 isoform 1 precursor							62.0	59.0	60.0					5																	141243094		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243094C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2802G>A	5.37:g.141243094C>T						PCDH1_uc003llp.2_Silent_p.Q934Q|PCDH1_uc011dbf.1_Silent_p.Q912Q	p.Q934Q	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2919	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	934			Cytoplasmic (Potential).		Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.2802G>A	CCDS43375.1																																																																																				0.622	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		4	19	0	0	0	0.009096	0	4	19				
POU4F3	5459	broad.mit.edu	37	5	145719212	145719212	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:145719212C>A	ENST00000230732.4	+	2	311	c.222C>A	c.(220-222)ttC>ttA	p.F74L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	74					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)	p.F74L(1)		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)			ACCATCCGTTCAAGCCCGACG	0.607																																							uc003loa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(220-222)TTC>TTA		POU class 4 homeobox 3							126.0	117.0	120.0					5																	145719212		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.chr5:145719212C>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.222C>A	5.37:g.145719212C>A	ENSP00000230732:p.Phe74Leu						p.F74L	NM_002700	NP_002691	Q15319	PO4F3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	311	+			74					O60557|Q2M3F8	Missense_Mutation	SNP	ENST00000230732.4	37	c.222C>A	CCDS4281.1	.	.	.	.	.	.	.	.	.	.	C	13.64	2.298807	0.40694	.	.	ENSG00000091010	ENST00000230732	T	0.26067	1.76	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.48362	1.52	0.58432	D	0.999996	B	0.06786	0.001	B	0.06405	0.002	T	0.04400	-1.0954	10	0.17832	T	0.49	.	15.0139	0.71570	0.0:1.0:0.0:0.0	.	74	Q15319	PO4F3_HUMAN	L	74	ENSP00000230732:F74L	ENSP00000230732:F74L	F	+	3	2	POU4F3	145699405	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.291000	0.78721	2.391000	0.81399	0.462000	0.41574	TTC		0.607	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251887.2	NM_002700		4	50	1	0	0.00116845	0.001168	0.00127057	4	50				
CYFIP2	26999	broad.mit.edu	37	5	156746826	156746826	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:156746826C>T	ENST00000521420.1	+	13	1426	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	CYFIP2_ENST00000435847.2_Silent_p.F145F|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000347377.6_Silent_p.F471F|CYFIP2_ENST00000318218.6_Silent_p.F471F|CYFIP2_ENST00000541131.1_Silent_p.F396F|CYFIP2_ENST00000522463.1_Silent_p.F275F|CYFIP2_ENST00000377576.3_Silent_p.F471F					cytoplasmic FMR1 interacting protein 2									p.F471F(3)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAGCGTCTTCAACCAGGCCA	0.597																																							uc003lwq.2		NA																	3	Substitution - coding silent(3)		lung(3)		0						c.(1411-1413)TTC>TTT		cytoplasmic FMR1 interacting protein 2							117.0	117.0	117.0					5																	156746826		2203	4300	6503	SO:0001819	synonymous_variant	26999				apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding	g.chr5:156746826C>T	AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1335C>T	5.37:g.156746826C>T						CYFIP2_uc011ddn.1_Silent_p.F445F|CYFIP2_uc011ddo.1_Silent_p.F275F|CYFIP2_uc003lwr.2_Silent_p.F471F|CYFIP2_uc003lws.2_Silent_p.F471F|CYFIP2_uc003lwt.2_Silent_p.F349F|CYFIP2_uc011ddp.1_Silent_p.F205F	p.F471F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		16	1551	+	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	471						Silent	SNP	ENST00000521420.1	37	c.1413C>T																																																																																					0.597	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1	NM_001037332		7	63	0	0	0	0.001984	0	7	63				
GABRA1	2554	broad.mit.edu	37	5	161277868	161277868	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:161277868C>T	ENST00000428797.2	+	3	407	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	GABRA1_ENST00000420560.1_Silent_p.L18L|GABRA1_ENST00000444819.1_Silent_p.L18L|GABRA1_ENST00000437025.2_Silent_p.L18L|GABRA1_ENST00000393943.4_Silent_p.L18L|GABRA1_ENST00000023897.6_Silent_p.L18L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	18					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.L18L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	GATCCTCCTTCTGAGCACACT	0.428																																							uc010jiw.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(52-54)CTG>TTG		gamma-aminobutyric acid (GABA) A receptor, alpha	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						102.0	96.0	98.0					5																	161277868		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161277868C>T		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.52C>T	5.37:g.161277868C>T						GABRA1_uc010jix.2_Silent_p.L18L|GABRA1_uc010jiy.2_Silent_p.L18L|GABRA1_uc003lyx.3_Silent_p.L18L|GABRA1_uc010jiz.2_Silent_p.L18L|GABRA1_uc010jja.2_Silent_p.L18L|GABRA1_uc010jjb.2_Silent_p.L18L	p.L18L	NM_000806	NP_000797	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	3	520	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	18					D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.52C>T	CCDS4357.1																																																																																				0.428	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		7	82	0	0	0	0.006214	0	7	82				
SIMC1	375484	broad.mit.edu	37	5	175722195	175722195	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:175722195A>T	ENST00000443967.1	+	5	1944	c.1537A>T	c.(1537-1539)Atc>Ttc	p.I513F	SIMC1_ENST00000430704.2_Missense_Mutation_p.I98F|SIMC1_ENST00000341199.6_Missense_Mutation_p.I98F|SIMC1_ENST00000429602.2_Missense_Mutation_p.I532F			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	513							SUMO polymer binding (GO:0032184)	p.I513F(1)									CATCCAGAAAATCTTGCTCAG	0.468																																							uc003mds.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1537-1539)ATC>TTC		RecName: Full=Uncharacterized protein C5orf25;							30.0	28.0	29.0					5																	175722195		2202	4292	6494	SO:0001583	missense	375484							g.chr5:175722195A>T	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1537A>T	5.37:g.175722195A>T	ENSP00000406571:p.Ile513Phe					C5orf25_uc003mdt.3_Missense_Mutation_p.I98F|C5orf25_uc003mdr.3_RNA|C5orf25_uc011dfk.1_Missense_Mutation_p.I532F	p.I513F			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	5	1944	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	513					J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.1537A>T		.	.	.	.	.	.	.	.	.	.	A	16.38	3.105802	0.56291	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000429602	T;T;T;T	0.44482	1.65;1.65;1.85;0.92	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000003	T	0.50650	0.1628	L	0.41824	1.3	0.37394	D	0.912575	P;D;D	0.76494	0.713;0.997;0.999	P;D;D	0.80764	0.685;0.991;0.994	T	0.57136	-0.7863	10	0.56958	D	0.05	-16.3499	8.1397	0.31076	0.8204:0.0:0.0:0.1796	.	532;98;513	B4DRM7;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	F	98;98;513;532	ENSP00000342075:I98F;ENSP00000409287:I98F;ENSP00000406571:I513F;ENSP00000410552:I532F	ENSP00000342075:I98F	I	+	1	0	C5orf25	175654801	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.042000	0.49815	1.775000	0.52247	0.496000	0.49642	ATC		0.468	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2	NM_198567		8	26	0	0	0	0.004482	0	8	26				
MAML1	9794	broad.mit.edu	37	5	179192648	179192648	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:179192648A>T	ENST00000292599.3	+	2	900	c.637A>T	c.(637-639)Aat>Tat	p.N213Y	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.N213Y(1)|p.N250Y(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTGAATAAAGAACT	0.522																																							uc003mkm.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(2)	6						c.(637-639)AAT>TAT		mastermind-like 1							56.0	53.0	54.0					5																	179192648		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192648A>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.637A>T	5.37:g.179192648A>T	ENSP00000292599:p.Asn213Tyr					MAML1_uc003mkn.1_Missense_Mutation_p.N213Y	p.N213Y	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	900	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	213						Missense_Mutation	SNP	ENST00000292599.3	37	c.637A>T	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104480	0.37145	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.47869	0.83	4.9	2.55	0.30701	.	0.673047	0.14473	N	0.317424	T	0.54549	0.1865	L	0.59436	1.845	0.24520	N	0.994166	D;P	0.54047	0.964;0.895	P;B	0.56700	0.804;0.332	T	0.41752	-0.9491	10	0.59425	D	0.04	-1.2299	7.2154	0.25957	0.8242:0.0:0.1758:0.0	.	250;213	Q59GH4;Q92585	.;MAML1_HUMAN	Y	213;250	ENSP00000292599:N213Y	ENSP00000292599:N213Y	N	+	1	0	MAML1	179125254	0.996000	0.38824	0.948000	0.38648	0.980000	0.70556	3.596000	0.54024	0.728000	0.32382	0.374000	0.22700	AAT		0.522	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		11	38	0	0	0	0.010729	0	11	38				
OR2V2	285659	broad.mit.edu	37	5	180582569	180582569	+	Silent	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:180582569C>G	ENST00000328275.1	+	1	627	c.627C>G	c.(625-627)ctC>ctG	p.L209L		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L209L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCATGCTTCTCTTCCCATTCT	0.498																																							uc011dhj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(625-627)CTC>CTG		olfactory receptor, family 2, subfamily V,							313.0	297.0	302.0					5																	180582569		2203	4300	6503	SO:0001819	synonymous_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582569C>G	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.627C>G	5.37:g.180582569C>G							p.L209L	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	627	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	209			Helical; Name=5; (Potential).		Q6IFL6|Q8NGV1	Silent	SNP	ENST00000328275.1	37	c.627C>G	CCDS4461.1																																																																																				0.498	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			13	163	0	0	0	0.001855	0	13	163				
GNB2L1	10399	broad.mit.edu	37	5	180668575	180668575	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr5:180668575C>T	ENST00000512805.1	-	3	754	c.346G>A	c.(346-348)Gac>Aac	p.D116N	GNB2L1_ENST00000511566.1_Missense_Mutation_p.D116N|GNB2L1_ENST00000511900.1_Intron|GNB2L1_ENST00000514455.1_5'Flank|GNB2L1_ENST00000376817.4_Missense_Mutation_p.D72N|SNORD95_ENST00000579879.1_RNA|GNB2L1_ENST00000505461.1_5'UTR|GNB2L1_ENST00000504726.1_Intron|SNORD96A_ENST00000606577.1_RNA|GNB2L1_ENST00000456394.2_Missense_Mutation_p.D116N	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	116					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)	p.D116N(1)		lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		TGCCGGTTGTCAGAGGAGAAG	0.512																																							uc003mni.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(346-348)GAC>AAC		guanine nucleotide binding protein (G protein),							144.0	131.0	136.0					5																	180668575		2203	4300	6503	SO:0001583	missense	10399				apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding	g.chr5:180668575C>T	M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.346G>A	5.37:g.180668575C>T	ENSP00000426909:p.Asp116Asn					GNB2L1_uc003mnh.1_Missense_Mutation_p.D75N|GNB2L1_uc003mnk.1_Missense_Mutation_p.D38N|GNB2L1_uc003mnj.1_Missense_Mutation_p.D70N|GNB2L1_uc003mnl.1_5'UTR|GNB2L1_uc011dhk.1_Missense_Mutation_p.D116N|GNB2L1_uc010jls.2_Missense_Mutation_p.D75N|GNB2L1_uc011dhl.1_Missense_Mutation_p.D116N	p.D116N	NM_006098	NP_006089	P63244	GBLP_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)	3	452	-	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	116			WD 3.		B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	ENST00000512805.1	37	c.346G>A	CCDS34324.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021060	0.93462	.	.	ENSG00000204628	ENST00000511566;ENST00000376817;ENST00000512805;ENST00000510199;ENST00000502844;ENST00000507000;ENST00000513027;ENST00000456394	T;D;T;T;T;T;T;T	0.83419	0.02;-1.72;0.02;0.02;0.02;0.02;0.02;0.02	5.88	5.88	0.94601	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	0.85881	0.5800	N	0.21240	0.645	0.80722	D	1	P;D;P;B;B	0.61697	0.649;0.99;0.829;0.136;0.136	P;D;P;B;B	0.81914	0.512;0.995;0.701;0.275;0.275	D	0.86502	0.1804	10	0.52906	T	0.07	-44.0063	17.7204	0.88349	0.0:1.0:0.0:0.0	.	116;87;164;116;116	E9PD14;B4DVD2;D6R9L0;E9KL35;P63244	.;.;.;.;GBLP_HUMAN	N	116;72;116;164;102;75;156;116	ENSP00000426101:D116N;ENSP00000366013:D72N;ENSP00000426909:D116N;ENSP00000423569:D164N;ENSP00000422029:D102N;ENSP00000421416:D75N;ENSP00000421356:D156N;ENSP00000394470:D116N	ENSP00000366013:D72N	D	-	1	0	GNB2L1	180601181	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	2.769000	0.95229	0.655000	0.94253	GAC		0.512	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372943.2	NM_006098		5	88	0	0	0	0.001168	0	5	88				
DUSP22	56940	broad.mit.edu	37	6	345916	345916	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:345916G>T	ENST00000344450.5	+	5	694	c.251G>T	c.(250-252)tGc>tTc	p.C84F	DUSP22_ENST00000605035.1_5'UTR|DUSP22_ENST00000604971.1_5'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.C84F|DUSP22_ENST00000605863.1_5'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605315.1_5'UTR	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	84	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.C84F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GGTGAGAGCTGCCTTGTACAC	0.443																																							uc003msx.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(250-252)TGC>TTC		dual specificity phosphatase 22							160.0	132.0	141.0					6																	345916		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:345916G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.251G>T	6.37:g.345916G>T	ENSP00000345281:p.Cys84Phe					DUSP22_uc011dhn.1_Missense_Mutation_p.C84F|DUSP22_uc003msy.1_Missense_Mutation_p.C41F	p.C84F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	5	690	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	84			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.251G>T	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856083	0.71834	.	.	ENSG00000112679	ENST00000344450	D	0.85702	-2.02	5.41	5.41	0.78517	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.94006	0.8080	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.99;1.0;1.0	D	0.95021	0.8160	10	0.87932	D	0	.	19.2039	0.93722	0.0:0.0:1.0:0.0	.	84;41;84	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	F	84	ENSP00000345281:C84F	ENSP00000345281:C84F	C	+	2	0	DUSP22	290916	1.000000	0.71417	0.997000	0.53966	0.313000	0.28021	9.807000	0.99171	2.523000	0.85059	0.655000	0.94253	TGC		0.443	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		6	89	1	0	0.00116845	0.001168	0.00127057	6	89				
SLC17A4	10050	broad.mit.edu	37	6	25762199	25762200	+	Nonsense_Mutation	DNP	CG	CG	AT	rs374991215|rs369261331		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	CG	CG	-	-	CG	CG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:25762199_25762200CG>AT	ENST00000377905.4	+	2	128_129	c.9_10CG>AT	c.(7-12)acCGga>acATga	p.G4*	SLC17A4_ENST00000439485.2_Nonsense_Mutation_p.G4*|SLC17A4_ENST00000397076.2_5'UTR	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	4					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.G4*(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAATGTCTACCGGACCAGATGT	0.401																																							uc003nfe.2		NA																	1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(7-12)ACCGGA>ACATGA		solute carrier family 17 (sodium phosphate),																																				SO:0001587	stop_gained	10050				phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	g.chr6:25762199_25762200CG>AT	AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	Exception_encountered	6.37:g.25762199_25762200delinsAT	ENSP00000367137:p.Gly4*					SLC17A4_uc011djx.1_Nonsense_Mutation_p.G4*|SLC17A4_uc003nff.1_Translation_Start_Site|SLC17A4_uc003nfg.2_Translation_Start_Site	p.G4*	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN			2	128_129	+			4					B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Nonsense_Mutation	DNP	ENST00000377905.4	37	c.9_10CG>AT	CCDS4564.1																																																																																				0.401	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1			6	37	0	0	0	0.004672	0	6	37				
HIST1H2BI	8346	broad.mit.edu	37	6	26273272	26273272	+	Missense_Mutation	SNP	G	G	C	rs576204357	byFrequency	TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:26273272G>C	ENST00000377733.2	+	1	129	c.69G>C	c.(67-69)caG>caC	p.Q23H	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	23					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q23H(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CCAAGGCACAGAAGAAGGATG	0.582																																							uc003nhk.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(67-69)CAG>CAC		histone cluster 1, H2bi							176.0	167.0	170.0					6																	26273272		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273272G>C	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.69G>C	6.37:g.26273272G>C	ENSP00000366962:p.Gln23His					HIST1H3G_uc003nhi.2_5'Flank	p.Q23H	NM_003525	NP_003516	P62807	H2B1C_HUMAN			1	69	+			23					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.69G>C	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	11.57	1.679074	0.29783	.	.	ENSG00000168242	ENST00000377733	T	0.23950	1.88	4.5	4.5	0.54988	.	.	.	.	.	T	0.33847	0.0877	M	0.77103	2.36	0.26303	N	0.977948	.	.	.	.	.	.	T	0.11743	-1.0575	7	0.72032	D	0.01	.	15.8093	0.78543	0.0:0.0:1.0:0.0	.	.	.	.	H	23	ENSP00000366962:Q23H	ENSP00000366962:Q23H	Q	+	3	2	HIST1H2BI	26381251	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	2.543000	0.45752	2.058000	0.61347	0.563000	0.77884	CAG		0.582	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		15	162	0	0	0	0.003163	0	15	162				
BTN3A3	10384	broad.mit.edu	37	6	26452057	26452057	+	Silent	SNP	A	A	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:26452057A>C	ENST00000244519.2	+	11	1416	c.1173A>C	c.(1171-1173)acA>acC	p.T391T	BTN3A3_ENST00000339789.4_Silent_p.T349T|BTN3A3_ENST00000361232.3_Silent_p.T342T	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	391	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.T391T(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AAAACTTCACATCAGGGAGAC	0.502																																							uc003nhz.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1171-1173)ACA>ACC		butyrophilin, subfamily 3, member A3 isoform a							108.0	107.0	107.0					6																	26452057		2203	4300	6503	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26452057A>C	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1173A>C	6.37:g.26452057A>C						BTN3A3_uc003nia.2_Silent_p.T349T|BTN3A3_uc011dkn.1_Silent_p.T342T	p.T391T	NM_006994	NP_008925	O00478	BT3A3_HUMAN			11	1353	+			391			B30.2/SPRY.|Cytoplasmic (Potential).		B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.1173A>C	CCDS4611.1																																																																																				0.502	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		5	41	0	0	0	0.000602	0	5	41				
BTN2A1	11120	broad.mit.edu	37	6	26468505	26468505	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:26468505G>A	ENST00000312541.5	+	8	1560	c.1312G>A	c.(1312-1314)Gat>Aat	p.D438N	BTN2A1_ENST00000541522.1_Missense_Mutation_p.D377N|BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000469185.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.D438N(1)|p.D424N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						GTCCTCCCCTGATAGGATTCT	0.537																																							uc003nib.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1312-1314)GAT>AAT		butyrophilin, subfamily 2, member A1 isoform 1							140.0	130.0	133.0					6																	26468505		2203	4300	6503	SO:0001583	missense	11120				lipid metabolic process	integral to plasma membrane		g.chr6:26468505G>A	U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.1312G>A	6.37:g.26468505G>A	ENSP00000312158:p.Asp438Asn					BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.D286N|BTN2A1_uc011dko.1_Missense_Mutation_p.D377N|BTN2A1_uc010jqk.1_Missense_Mutation_p.D198N	p.D438N	NM_007049	NP_008980	Q7KYR7	BT2A1_HUMAN			8	1524	+			438			Cytoplasmic (Potential).|B30.2/SPRY.		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	ENST00000312541.5	37	c.1312G>A	CCDS4613.1	.	.	.	.	.	.	.	.	.	.	G	2.790	-0.251616	0.05867	.	.	ENSG00000112763	ENST00000312541;ENST00000541522;ENST00000265424	T;T	0.69175	-0.38;-0.38	2.67	-0.279	0.12890	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.725955	0.12321	N	0.479228	T	0.35038	0.0918	L	0.33293	1	0.09310	N	1	B;B	0.26602	0.036;0.154	B;B	0.35655	0.139;0.207	T	0.44787	-0.9305	10	0.52906	T	0.07	.	6.1738	0.20433	0.2078:0.0:0.6422:0.15	.	377;438	B4DLP9;Q7KYR7	.;BT2A1_HUMAN	N	438;377;424	ENSP00000312158:D438N;ENSP00000443909:D377N	ENSP00000265424:D424N	D	+	1	0	BTN2A1	26576484	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-2.019000	0.01442	-0.381000	0.07882	-1.579000	0.00862	GAT		0.537	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		7	66	0	0	0	0.001984	0	7	66				
OR10C1	442194	broad.mit.edu	37	6	29407927	29407927	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:29407927G>A	ENST00000444197.2	+	1	845	c.135G>A	c.(133-135)gtG>gtA	p.V45V	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V45V(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTCATTGTGGTGCTGGTCT	0.572																																							uc011dlp.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)GTG>GTA		olfactory receptor, family 10, subfamily C,							189.0	159.0	170.0					6																	29407927		1510	2708	4218	SO:0001819	synonymous_variant	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29407927G>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.135G>A	6.37:g.29407927G>A						OR11A1_uc010jrh.1_Intron	p.V45V	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	135	+			45			Helical; Name=1; (Potential).		Q5SUN7|Q96R18	Silent	SNP	ENST00000444197.2	37	c.135G>A	CCDS34364.1																																																																																				0.572	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2			17	98	0	0	0	0.004007	0	17	98				
C6orf15	29113	broad.mit.edu	37	6	31079340	31079340	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:31079340G>A	ENST00000259870.3	-	2	799	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	266	Gly-rich.				extracellular matrix organization (GO:0030198)	interstitial matrix (GO:0005614)	heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.R266W(1)		endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCTGGATACCGATTAATATTT	0.498																																							uc003nsk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(796-798)CGG>TGG		STG protein precursor							66.0	77.0	73.0					6																	31079340		1724	3339	5063	SO:0001583	missense	29113							g.chr6:31079340G>A	AB031481	CCDS4693.1	6p21	2011-12-12			ENSG00000204542	ENSG00000204542			13927	protein-coding gene	gene with protein product		611401					Standard	NM_014070		Approved	STG	uc003nsk.1	Q6UXA7	OTTHUMG00000031111	ENST00000259870.3:c.796C>T	6.37:g.31079340G>A	ENSP00000259870:p.Arg266Trp						p.R266W	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN			2	796	-			266			Gly-rich.		B0S7V8|Q0EFA6|Q2L6G7|Q5SQ81|Q86Z05|Q9UIG3	Missense_Mutation	SNP	ENST00000259870.3	37	c.796C>T	CCDS4693.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776560	0.49786	.	.	ENSG00000204542	ENST00000259870	T	0.08282	3.11	4.01	-0.324	0.12706	.	0.978321	0.08324	N	0.963314	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.56343	0.796	T	0.30966	-0.9960	10	0.41790	T	0.15	.	1.9612	0.03387	0.2027:0.1575:0.479:0.1607	.	266	Q6UXA7	CF015_HUMAN	W	266	ENSP00000259870:R266W	ENSP00000259870:R266W	R	-	1	2	C6orf15	31187319	0.000000	0.05858	0.022000	0.16811	0.340000	0.28889	0.103000	0.15292	0.316000	0.23135	0.175000	0.17021	CGG		0.498	C6orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076184.2	NM_014070		5	71	0	0	0	0.001168	0	5	71				
MSH5	4439	broad.mit.edu	37	6	31726640	31726640	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:31726640C>G	ENST00000375755.3	+	15	1600	c.1314C>G	c.(1312-1314)atC>atG	p.I438M	MSH5_ENST00000431848.2_Missense_Mutation_p.I137M|MSH5_ENST00000534153.4_Missense_Mutation_p.I455M|MSH5-SAPCD1_ENST00000493662.2_Missense_Mutation_p.I455M|MSH5_ENST00000375742.3_Missense_Mutation_p.I455M|MSH5_ENST00000375740.3_Missense_Mutation_p.I455M|MSH5_ENST00000375703.3_Missense_Mutation_p.I438M|RNU6-850P_ENST00000516934.1_RNA|MSH5_ENST00000395853.1_Missense_Mutation_p.I112M|MSH5_ENST00000375750.3_Missense_Mutation_p.I438M	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	438					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.I455M(1)|p.I438M(1)		breast(1)|ovary(2)|skin(2)	5						GCAGTGTCATCTACATCCCTC	0.478								Direct reversal of damage;Mismatch excision repair (MMR)																															uc003nwv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(1312-1314)ATC>ATG	Direct_reversal_of_damage|MMR	mutS homolog 5 isoform c							96.0	92.0	93.0					6																	31726640		2203	4300	6503	SO:0001583	missense	4439				chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr6:31726640C>G	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.1314C>G	6.37:g.31726640C>G	ENSP00000364908:p.Ile438Met					MSH5_uc003nwt.1_Missense_Mutation_p.I455M|MSH5_uc003nwu.1_Missense_Mutation_p.I438M|MSH5_uc003nww.1_Missense_Mutation_p.I438M|MSH5_uc003nwx.1_Missense_Mutation_p.I455M|MSH5_uc011dof.1_Missense_Mutation_p.I137M|MSH5_uc003nwy.1_Missense_Mutation_p.I112M|MSH5_uc003nwz.3_5'Flank	p.I438M	NM_172166	NP_751898	O43196	MSH5_HUMAN			15	1393	+			438					B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Missense_Mutation	SNP	ENST00000375755.3	37	c.1314C>G	CCDS4720.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.523781	0.64747	.	.	ENSG00000204410	ENST00000375755;ENST00000375742;ENST00000375750;ENST00000534153;ENST00000375703;ENST00000375740;ENST00000450148;ENST00000431848;ENST00000395853	D;D;D;D;D;D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52;-2.52	5.42	3.64	0.41730	DNA mismatch repair protein MutS, clamp (1);DNA mismatch repair protein MutS, core (3);	0.058537	0.64402	D	0.000003	D	0.88066	0.6337	M	0.62723	1.935	0.40231	D	0.977846	D;P;D;P;D	0.56968	0.978;0.946;0.957;0.794;0.974	P;P;P;P;P	0.59221	0.794;0.771;0.804;0.647;0.854	D	0.87529	0.2451	9	0.52906	T	0.07	-2.4778	9.9252	0.41487	0.0:0.8331:0.0:0.1669	.	123;455;438;438;455	Q59EC5;O43196-4;O43196;O43196-2;O43196-3	.;.;MSH5_HUMAN;.;.	M	438;455;438;455;438;455;280;137;112	ENSP00000364908:I438M;ENSP00000364894:I455M;ENSP00000364903:I438M;ENSP00000431693:I455M;ENSP00000364855:I438M;ENSP00000364892:I455M;ENSP00000394971:I280M;ENSP00000416784:I137M;ENSP00000379194:I112M	ENSP00000364855:I438M	I	+	3	3	MSH5	31834619	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.865000	0.39479	0.673000	0.31224	0.591000	0.81541	ATC		0.478	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076243.4			7	65	0	0	0	0.001984	0	7	65				
FKBPL	63943	broad.mit.edu	37	6	32097284	32097284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:32097284G>A	ENST00000375156.3	-	2	544	c.274C>T	c.(274-276)Caa>Taa	p.Q92*	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	92					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.Q92*(1)									TCAGAAGCTTGAAGGGCCTCT	0.498																																							uc003nzr.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(274-276)CAA>TAA		WAF-1/CIP1 stabilizing protein 39							84.0	85.0	85.0					6																	32097284		2203	4300	6503	SO:0001587	stop_gained	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097284G>A	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.274C>T	6.37:g.32097284G>A	ENSP00000364298:p.Gln92*					ATF6B_uc003nzo.2_5'Flank|ATF6B_uc003nzn.2_5'Flank|ATF6B_uc011dpg.1_5'Flank|ATF6B_uc011dph.1_5'Flank	p.Q92*	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN			2	544	-			92					A8K5V3|B0UYX8|Q9H5G3	Nonsense_Mutation	SNP	ENST00000375156.3	37	c.274C>T	CCDS4738.1	.	.	.	.	.	.	.	.	.	.	G	40	8.026991	0.98616	.	.	ENSG00000204315	ENST00000375156	.	.	.	5.03	4.16	0.48862	.	1.370120	0.04840	N	0.440346	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-0.0028	13.2599	0.60098	0.0:0.1606:0.8394:0.0	.	.	.	.	X	92	.	ENSP00000364298:Q92X	Q	-	1	0	FKBPL	32205262	0.015000	0.18098	0.002000	0.10522	0.978000	0.69477	2.089000	0.41672	1.342000	0.45619	0.462000	0.41574	CAA		0.498	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			6	69	0	0	0	0.001984	0	6	69				
NOTCH4	4855	broad.mit.edu	37	6	32181887	32181887	+	Splice_Site	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:32181887C>A	ENST00000375023.3	-	13	2305	c.2167G>T	c.(2167-2169)Gga>Tga	p.G723*	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	723	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						AGGGTCTCACCTGTGTAGCCT	0.617																																							uc003obb.2		NA																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(2167-2169)GGA>TGA		notch4 preproprotein							100.0	95.0	96.0					6																	32181887		2203	4300	6503	SO:0001630	splice_region_variant	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.chr6:32181887C>A		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.2167+1G>T	6.37:g.32181887C>A						NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.G723*	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			13	2306	-			723			Extracellular (Potential).|EGF-like 18.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Nonsense_Mutation	SNP	ENST00000375023.3	37	c.2167G>T	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	39	7.734459	0.98459	.	.	ENSG00000204301	ENST00000375023	.	.	.	3.97	3.97	0.46021	.	0.000000	0.43260	D	0.000589	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5669	0.61824	0.0:1.0:0.0:0.0	.	.	.	.	X	723	.	.	G	-	1	0	NOTCH4	32289865	1.000000	0.71417	1.000000	0.80357	0.265000	0.26407	6.238000	0.72350	2.057000	0.61298	0.561000	0.74099	GGA		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		Nonsense_Mutation	29	113	1	0	2.80507e-11	0.012213	3.79088e-11	29	113				
GPR116	221395	broad.mit.edu	37	6	46826549	46826549	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:46826549G>C	ENST00000283296.7	-	17	3379	c.3091C>G	c.(3091-3093)Cta>Gta	p.L1031V	GPR116_ENST00000362015.4_Missense_Mutation_p.L1031V|GPR116_ENST00000456426.2_Missense_Mutation_p.L889V|GPR116_ENST00000265417.7_Missense_Mutation_p.L1031V|GPR116_ENST00000545669.1_Missense_Mutation_p.L460V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1031					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L1031V(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCCACAACTAGACAGGCTGCC	0.512																																					NSCLC(59;410 1274 8751 36715 50546)	NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3091-3093)CTA>GTA		G-protein coupled receptor 116 precursor							48.0	49.0	49.0					6																	46826549		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826549G>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3091C>G	6.37:g.46826549G>C	ENSP00000283296:p.Leu1031Val					GPR116_uc011dwj.1_Missense_Mutation_p.L586V|GPR116_uc011dwk.1_Missense_Mutation_p.L460V|GPR116_uc003oyp.3_Missense_Mutation_p.L889V|GPR116_uc003oyq.3_Missense_Mutation_p.L1031V|GPR116_uc010jzi.1_Missense_Mutation_p.L703V	p.L1031V	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3380	-			1031			Cytoplasmic (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3091C>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138071	0.56936	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.61	5.61	0.85477	GPCR, family 2-like (1);	0.143577	0.32015	N	0.006704	T	0.59046	0.2165	M	0.70595	2.14	0.44352	D	0.99724	D;D;P;D;P	0.65815	0.964;0.988;0.801;0.995;0.801	P;D;P;D;P	0.64687	0.604;0.927;0.458;0.928;0.458	T	0.62854	-0.6766	10	0.72032	D	0.01	-12.7318	14.3696	0.66830	0.0:0.0:0.8162:0.1838	.	460;586;1031;889;1031	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	V	1031;1031;1031;889;402;1031;460	ENSP00000283296:L1031V;ENSP00000354563:L1031V;ENSP00000412866:L889V;ENSP00000265417:L1031V;ENSP00000441581:L460V	ENSP00000265417:L1031V	L	-	1	2	GPR116	46934508	1.000000	0.71417	0.895000	0.35142	0.773000	0.43773	3.649000	0.54417	2.642000	0.89623	0.650000	0.86243	CTA		0.512	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		5	45	0	0	0	0.000602	0	5	45				
PKHD1	5314	broad.mit.edu	37	6	51890718	51890718	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:51890718G>A	ENST00000371117.3	-	32	4165	c.3890C>T	c.(3889-3891)gCg>gTg	p.A1297V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1297V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1297					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)	p.A1297V(2)		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)					TGTTGCTGCCGCTTCATACAT	0.542																																							uc003pah.1		NA																	2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3889-3891)GCG>GTG		fibrocystin isoform 1							98.0	87.0	91.0					6																	51890718		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.chr6:51890718G>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.3890C>T	6.37:g.51890718G>A	ENSP00000360158:p.Ala1297Val					PKHD1_uc003pai.2_Missense_Mutation_p.A1297V	p.A1297V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4166	-	Lung NSC(77;0.0605)		1297			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3890C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	9.988	1.229996	0.22542	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87256	-2.04;-2.23	5.87	-3.05	0.05396	.	1.185280	0.05814	N	0.614596	T	0.50973	0.1647	N	0.16307	0.4	0.09310	N	1	B;B	0.15473	0.013;0.008	B;B	0.09377	0.004;0.002	T	0.31724	-0.9933	10	0.27082	T	0.32	.	2.2625	0.04070	0.402:0.2163:0.2801:0.1016	.	1297;1297	P08F94-2;P08F94	.;PKHD1_HUMAN	V	1297	ENSP00000360158:A1297V;ENSP00000341097:A1297V	ENSP00000341097:A1297V	A	-	2	0	PKHD1	51998677	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.164000	0.09983	-1.099000	0.03034	-0.136000	0.14681	GCG		0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		4	51	0	0	0	0.000602	0	4	51				
SNAP91	9892	broad.mit.edu	37	6	84371233	84371233	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:84371233C>T	ENST00000439399.2	-	5	756	c.440G>A	c.(439-441)aGg>aAg	p.R147K	SNAP91_ENST00000520213.1_Missense_Mutation_p.R147K|SNAP91_ENST00000520302.1_Missense_Mutation_p.R147K|SNAP91_ENST00000521485.1_Missense_Mutation_p.R147K|SNAP91_ENST00000437520.1_Missense_Mutation_p.R147K|SNAP91_ENST00000428679.2_Missense_Mutation_p.R147K|SNAP91_ENST00000521743.1_Missense_Mutation_p.R147K|SNAP91_ENST00000369694.2_Missense_Mutation_p.R147K|SNAP91_ENST00000195649.6_Missense_Mutation_p.R147K	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	147					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)	p.R147K(2)		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)		TTTCTTCACCCTGGCAAAATC	0.348																																							uc011dze.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(439-441)AGG>AAG		synaptosomal-associated protein, 91kDa homolog							53.0	50.0	51.0					6																	84371233		1807	4068	5875	SO:0001583	missense	9892				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	g.chr6:84371233C>T	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.440G>A	6.37:g.84371233C>T	ENSP00000400459:p.Arg147Lys					SNAP91_uc003pkb.2_Missense_Mutation_p.R112K|SNAP91_uc003pkc.2_Missense_Mutation_p.R147K|SNAP91_uc003pkd.2_Missense_Mutation_p.R147K|SNAP91_uc003pka.2_Missense_Mutation_p.R147K|SNAP91_uc011dzf.1_Missense_Mutation_p.R28K	p.R147K	NM_014841	NP_055656	O60641	AP180_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0967)	5	757	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)	147					A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	ENST00000439399.2	37	c.440G>A	CCDS47455.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170110	0.38315	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690	T;T;T;T;T;T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.13	5.13	0.70059	ENTH/VHS (1);ANTH (1);	0.048531	0.85682	D	0.000000	T	0.05547	0.0146	N	0.04768	-0.165	0.47441	D	0.999423	B;B;B;B	0.21225	0.001;0.004;0.053;0.004	B;B;B;B	0.27076	0.002;0.015;0.076;0.015	T	0.16928	-1.0386	10	0.02654	T	1	-13.2673	12.3201	0.54979	0.0:0.9221:0.0:0.0779	.	147;147;147;147	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	K	147	ENSP00000429776:R147K;ENSP00000358708:R147K;ENSP00000400459:R147K;ENSP00000195649:R147K;ENSP00000412492:R147K;ENSP00000413277:R147K;ENSP00000428511:R147K;ENSP00000428215:R147K;ENSP00000428026:R147K;ENSP00000430071:R147K;ENSP00000429429:R147K;ENSP00000430441:R147K;ENSP00000358704:R147K	ENSP00000195649:R147K	R	-	2	0	SNAP91	84427952	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.874000	0.63064	2.542000	0.85734	0.563000	0.77884	AGG		0.348	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000375296.1			8	33	0	0	0	0.006214	0	8	33				
TAAR5	9038	broad.mit.edu	37	6	132910535	132910535	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:132910535C>G	ENST00000258034.2	-	1	342	c.291G>C	c.(289-291)gaG>gaC	p.E97D		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	97					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)	p.E97D(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ACCAGCAGCTCTCCACTGAGC	0.587																																							uc003qdk.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(289-291)GAG>GAC		trace amine associated receptor 5							119.0	129.0	126.0					6																	132910535		2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910535C>G	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.291G>C	6.37:g.132910535C>G	ENSP00000258034:p.Glu97Asp						p.E97D	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	1	343	-	Breast(56;0.112)		97			Extracellular (Potential).		D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.291G>C	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286189	0.59867	.	.	ENSG00000135569	ENST00000258034	T	0.37235	1.21	5.43	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	T	0.30916	0.0780	L	0.48877	1.53	0.34390	D	0.694089	D	0.58970	0.984	P	0.57057	0.812	T	0.29150	-1.0021	10	0.56958	D	0.05	-16.3236	8.6845	0.34229	0.0:0.775:0.0:0.225	.	97	O14804	TAAR5_HUMAN	D	97	ENSP00000258034:E97D	ENSP00000258034:E97D	E	-	3	2	TAAR5	132952228	0.002000	0.14202	1.000000	0.80357	0.983000	0.72400	-0.040000	0.12104	1.517000	0.48917	0.655000	0.94253	GAG		0.587	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967		8	58	0	0	0	0.004482	0	8	58				
IL20RA	53832	broad.mit.edu	37	6	137330561	137330561	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:137330561G>T	ENST00000316649.5	-	4	707	c.472C>A	c.(472-474)Cca>Aca	p.P158T	IL20RA_ENST00000367748.1_Missense_Mutation_p.P47T|IL20RA_ENST00000541547.1_Missense_Mutation_p.P109T|IL20RA_ENST00000367746.3_Missense_Mutation_p.P158T|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	158	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CACTTCTCTGGAGCTGTCAGG	0.423																																							uc003qhj.2		NA																	0				ovary(2)|skin(2)	4						c.(472-474)CCA>ACA		interleukin 20 receptor, alpha precursor							142.0	135.0	137.0					6																	137330561		2203	4300	6503	SO:0001583	missense	53832					integral to membrane	receptor activity	g.chr6:137330561G>T	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.472C>A	6.37:g.137330561G>T	ENSP00000314976:p.Pro158Thr					IL20RA_uc011edl.1_Missense_Mutation_p.P109T|IL20RA_uc003qhk.2_Missense_Mutation_p.P47T|IL20RA_uc010kgy.1_RNA|IL20RA_uc003qhi.2_5'Flank	p.P158T	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	4	905	-	Colorectal(23;0.24)		158			Extracellular (Potential).|Fibronectin type-III 2.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	ENST00000316649.5	37	c.472C>A	CCDS5181.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182543	0.57800	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547;ENST00000367746	T;T;T;T	0.73152	0.76;-0.72;0.76;0.76	5.64	5.64	0.86602	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.82070	0.4957	M	0.81802	2.56	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82182	-0.0584	10	0.48119	T	0.1	-13.4406	16.4308	0.83841	0.0:0.0:1.0:0.0	.	47;158	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	T	158;47;109;158	ENSP00000314976:P158T;ENSP00000356722:P47T;ENSP00000437843:P109T;ENSP00000356720:P158T	ENSP00000314976:P158T	P	-	1	0	IL20RA	137372254	1.000000	0.71417	1.000000	0.80357	0.482000	0.33219	3.997000	0.57016	2.673000	0.90976	0.555000	0.69702	CCA		0.423	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		17	68	1	0	5.01169e-05	0.00499	5.71414e-05	17	68				
TAGAP	117289	broad.mit.edu	37	6	159463125	159463125	+	Silent	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:159463125G>T	ENST00000367066.3	-	5	631	c.300C>A	c.(298-300)ctC>ctA	p.L100L	RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Intron|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000338313.5_Silent_p.L100L	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	100	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L100L(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGGTCTGGGGAGTGTGTCAC	0.458																																							uc003qrz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(298-300)CTC>CTA		T-cell activation Rho GTPase-activating protein							217.0	212.0	214.0					6																	159463125		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159463125G>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.300C>A	6.37:g.159463125G>T						TAGAP_uc011eft.1_Silent_p.L37L|TAGAP_uc003qsa.2_Intron|TAGAP_uc003qsb.2_Silent_p.L100L|uc003qsc.2_5'Flank	p.L100L	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	5	632	-		Breast(66;0.000776)|Ovarian(120;0.0303)	100			Rho-GAP.		Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.300C>A	CCDS5261.1																																																																																				0.458	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		12	181	1	0	6.40141e-05	0.010729	7.25951e-05	12	181				
FNDC1	84624	broad.mit.edu	37	6	159654341	159654341	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr6:159654341G>T	ENST00000297267.9	+	11	2997	c.2797G>T	c.(2797-2799)Ggg>Tgg	p.G933W	FNDC1_ENST00000340366.6_Missense_Mutation_p.G870W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	933					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G933W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAATCCACAGGGGCAGATAC	0.607																																							uc010kjv.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|central_nervous_system(1)	8						c.(2797-2799)GGG>TGG		fibronectin type III domain containing 1							73.0	86.0	82.0					6																	159654341		2066	4204	6270	SO:0001583	missense	84624					extracellular region		g.chr6:159654341G>T	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.2797G>T	6.37:g.159654341G>T	ENSP00000297267:p.Gly933Trp					FNDC1_uc010kjw.1_Missense_Mutation_p.G818W	p.G933W	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	2997	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	933					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.2797G>T	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.42|13.42	2.232996|2.232996	0.39498|0.39498	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.08008|.	3.14;3.96|.	4.66|4.66	1.84|1.84	0.25277|0.25277	.|.	0.723471|.	0.12485|.	N|.	0.464777|.	T|T	0.14570|0.14570	0.0352|0.0352	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	1|1	D;D|.	0.61697|.	0.99;0.964|.	P;P|.	0.59115|.	0.852;0.715|.	T|T	0.23119|0.23119	-1.0197|-1.0197	10|5	0.66056|.	D|.	0.02|.	-2.3734|-2.3734	6.4603|6.4603	0.21952|0.21952	0.3167:0.0:0.6833:0.0|0.3167:0.0:0.6833:0.0	.|.	870;933|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	W|M	933;870|828	ENSP00000297267:G933W;ENSP00000342460:G870W|.	ENSP00000297267:G933W|.	G|R	+|+	1|2	0|0	FNDC1|FNDC1	159574331|159574331	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.370000|0.370000	0.29829|0.29829	0.836000|0.836000	0.27545|0.27545	0.580000|0.580000	0.29522|0.29522	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.607	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		4	23	1	0	0.00909568	0.009096	0.00957083	4	23				
SUN1	23353	broad.mit.edu	37	7	892283	892283	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:892283A>G	ENST00000405266.1	+	9	1024	c.1000A>G	c.(1000-1002)Atc>Gtc	p.I334V	SUN1_ENST00000401592.1_Missense_Mutation_p.I297V|SUN1_ENST00000413514.2_Missense_Mutation_p.I106V|SUN1_ENST00000389574.3_Missense_Mutation_p.I214V|SUN1_ENST00000452783.2_Missense_Mutation_p.I195V|SUN1_ENST00000456758.2_Missense_Mutation_p.I486V|SUN1_ENST00000425407.2_Missense_Mutation_p.I214V			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	324					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.I297V(1)|p.I214V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTCTTGCTCATCCCACTCTT	0.413																																							uc011jvp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(889-891)ATC>GTC		unc-84 homolog A isoform a							157.0	151.0	153.0					7																	892283		1905	4124	6029	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:892283A>G	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.1000A>G	7.37:g.892283A>G	ENSP00000384116:p.Ile334Val					GET4_uc003sjj.1_RNA|SUN1_uc003sjf.2_Missense_Mutation_p.I214V|SUN1_uc011jvq.1_Missense_Mutation_p.I195V|SUN1_uc003sjg.2_Missense_Mutation_p.I202V|SUN1_uc011jvr.1_Missense_Mutation_p.I106V|SUN1_uc003sji.2_Missense_Mutation_p.I135V|SUN1_uc003sjk.2_5'UTR	p.I297V	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			9	968	+			324			Helical.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.889A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.202|6.202	0.405436|0.405436	0.11754|0.11754	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000450881;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T;T	.|0.48522	.|2.09;2.14;2.15;2.14;2.14;2.14;0.81;1.81;1.76	5.53|5.53	-2.64|-2.64	0.06114|0.06114	.|.	.|0.406531	.|0.29145	.|N	.|0.013017	T|T	0.30634|0.30634	0.0771|0.0771	L|L	0.46157|0.46157	1.445|1.445	0.19575|0.19575	N|N	0.999966|0.999966	.|B;B;B;B;B;B	.|0.24963	.|0.003;0.005;0.077;0.115;0.001;0.002	.|B;B;B;B;B;B	.|0.21708	.|0.006;0.015;0.026;0.036;0.004;0.013	T|T	0.12734|0.12734	-1.0536|-1.0536	5|10	.|0.27785	.|T	.|0.31	-7.7873|-7.7873	4.89|4.89	0.13722|0.13722	0.3459:0.4209:0.0602:0.173|0.3459:0.4209:0.0602:0.173	.|.	.|106;195;297;486;324;214	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	R|V	145|486;214;195;334;297;324;214;170;222;106	.|ENSP00000388743:I486V;ENSP00000374225:I214V;ENSP00000413439:I195V;ENSP00000384116:I334V;ENSP00000384015:I297V;ENSP00000392309:I214V;ENSP00000392595:I170V;ENSP00000409909:I222V;ENSP00000389313:I106V	.|ENSP00000297445:I324V	H|I	+|+	2|1	0|0	SUN1|SUN1	858809|858809	0.851000|0.851000	0.29673|0.29673	0.004000|0.004000	0.12327|0.12327	0.009000|0.009000	0.06853|0.06853	0.021000|0.021000	0.13489|0.13489	-1.014000|-1.014000	0.03379|0.03379	-1.139000|-1.139000	0.01908|0.01908	CAT|ATC		0.413	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		11	178	0	0	0	0.001368	0	11	178				
FOXK1	221937	broad.mit.edu	37	7	4798715	4798715	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:4798715G>A	ENST00000328914.4	+	6	1278	c.1278G>A	c.(1276-1278)ctG>ctA	p.L426L	FOXK1_ENST00000446823.1_Silent_p.L263L	NM_001037165.1	NP_001032242.1			forkhead box K1									p.L426L(1)|p.L404L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACCCCGGGCTGATGTCCCCTC	0.672																																							uc003snc.1		NA																	2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1276-1278)CTG>CTA		forkhead box K1							62.0	69.0	67.0					7																	4798715		2203	4300	6503	SO:0001819	synonymous_variant	221937				cell differentiation|embryo development|muscle organ 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|magnesium ion 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.chr7:4798715G>A	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1278G>A	7.37:g.4798715G>A						FOXK1_uc003sna.1_Silent_p.L263L	p.L426L	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	6	1288	+		Ovarian(82;0.0175)	426						Silent	SNP	ENST00000328914.4	37	c.1278G>A	CCDS34591.1																																																																																				0.672	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			6	73	0	0	0	0.001984	0	6	73				
PMS2	5395	broad.mit.edu	37	7	6029467	6029467	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:6029467G>C	ENST00000265849.7	-	10	1213	c.1108C>G	c.(1108-1110)Cta>Gta	p.L370V	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.L370V|PMS2_ENST00000441476.2_Missense_Mutation_p.L264V	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	370					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)	p.L370V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTGACATTTAGCTTGTTGACA	0.353			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														uc003spl.2		NA	yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	Mis|N|F	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)			E		colorectal|endometrial|ovarian|medulloblastoma|glioma			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(1108-1110)CTA>GTA	Direct_reversal_of_damage|MMR	PMS2 postmeiotic segregation increased 2 isoform							112.0	107.0	109.0					7																	6029467		2203	4300	6503	SO:0001583	missense	5395	Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	g.chr7:6029467G>C		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1108C>G	7.37:g.6029467G>C	ENSP00000265849:p.Leu370Val					PMS2_uc003spj.2_Missense_Mutation_p.L264V|PMS2_uc003spk.2_Missense_Mutation_p.L235V|PMS2_uc011jwl.1_Missense_Mutation_p.L235V|PMS2_uc010ktg.2_Missense_Mutation_p.L59V|PMS2_uc010kte.2_Intron|PMS2_uc010ktf.1_Missense_Mutation_p.L370V	p.L370V	NM_000535	NP_000526	P54278	PMS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)	10	1195	-		Ovarian(82;0.0694)	370					B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	ENST00000265849.7	37	c.1108C>G	CCDS5343.1	.	.	.	.	.	.	.	.	.	.	g	8.592	0.884887	0.17540	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	D;T;D	0.86432	-1.9;-1.29;-2.12	5.47	4.57	0.56435	.	0.418859	0.24708	N	0.036254	D	0.83394	0.5245	L	0.48642	1.525	0.39254	D	0.964089	B;B;B	0.20671	0.035;0.016;0.047	B;B;B	0.29942	0.109;0.01;0.09	T	0.78677	-0.2111	10	0.25751	T	0.34	-11.0267	12.1062	0.53813	0.0:0.1303:0.7344:0.1353	.	370;370;264	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	V	370;323;264;370	ENSP00000265849:L370V;ENSP00000392843:L264V;ENSP00000384308:L370V	ENSP00000265849:L370V	L	-	1	2	PMS2	5995993	1.000000	0.71417	0.551000	0.28230	0.281000	0.26958	2.506000	0.45433	1.280000	0.44463	0.650000	0.86243	CTA		0.353	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535		19	113	0	0	0	0.012319	0	19	113				
ABCB5	340273	broad.mit.edu	37	7	20698213	20698213	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:20698213C>T	ENST00000404938.2	+	14	2273	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ABCB5_ENST00000406935.1_Nonsense_Mutation_p.R96*|ABCB5_ENST00000443026.2_Nonsense_Mutation_p.R96*|ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R96*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	541	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.R96*(3)|p.R541*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TGCCTTAGTTCGAAACCCCAA	0.438																																							uc003suw.3		NA																	4	Substitution - Nonsense(4)		lung(3)|skin(1)	skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(286-288)CGA>TGA		ATP-binding cassette, sub-family B, member 5							132.0	115.0	120.0					7																	20698213		2203	4300	6503	SO:0001587	stop_gained	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20698213C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1621C>T	7.37:g.20698213C>T	ENSP00000384881:p.Arg541*					ABCB5_uc010kuh.2_Nonsense_Mutation_p.R541*|ABCB5_uc003suv.3_Nonsense_Mutation_p.R96*|ABCB5_uc011jyi.1_Nonsense_Mutation_p.R96*	p.R96*	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			5	832	+			96			ABC transporter 1.|Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.286C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	40	8.494984	0.98836	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	.	.	.	5.77	3.86	0.44501	.	0.142496	0.30510	N	0.009471	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5834	0.61915	0.4045:0.5955:0.0:0.0	.	.	.	.	X	541;96;96;96	.	ENSP00000258738:R96X	R	+	1	2	ABCB5	20664738	0.987000	0.35691	1.000000	0.80357	0.967000	0.64934	0.719000	0.25881	1.565000	0.49641	0.650000	0.86243	CGA		0.438	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		6	49	0	0	0	0.001984	0	6	49				
HOXA1	3198	broad.mit.edu	37	7	27135384	27135384	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:27135384C>G	ENST00000343060.4	-	1	209	c.148G>C	c.(148-150)Gac>Cac	p.D50H	HOTAIRM1_ENST00000495032.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOXA1_ENST00000355633.5_Missense_Mutation_p.D50H|HOTAIRM1_ENST00000429611.3_RNA	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	50					abducens nerve formation (GO:0021599)|anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|artery morphogenesis (GO:0048844)|central nervous system neuron differentiation (GO:0021953)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|cognition (GO:0050890)|embryonic neurocranium morphogenesis (GO:0048702)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|inner ear development (GO:0048839)|motor neuron axon guidance (GO:0008045)|multicellular organismal development (GO:0007275)|neuromuscular process (GO:0050905)|optokinetic behavior (GO:0007634)|outer ear morphogenesis (GO:0042473)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of behavior (GO:0050795)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|semicircular canal formation (GO:0060876)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.D50H(1)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGCGGTCGTCGCCGCCGCAA	0.662											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																											uc003sye.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(148-150)GAC>CAC		homeobox A1 isoform a							41.0	46.0	44.0					7																	27135384		2202	4300	6502	SO:0001583	missense	3198					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27135384C>G		CCDS5401.1, CCDS5402.2	7p15.2	2011-06-20	2005-12-22		ENSG00000105991	ENSG00000105991		"""Homeoboxes / ANTP class : HOXL subclass"""	5099	protein-coding gene	gene with protein product		142955	"""homeo box A1"""	HOX1F, HOX1		1973146	Standard	NM_153620		Approved		uc003sye.3	P49639	OTTHUMG00000023207	ENST00000343060.4:c.148G>C	7.37:g.27135384C>G	ENSP00000343246:p.Asp50His		OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	792	HOXA1_uc003syd.2_Missense_Mutation_p.D50H|uc003syg.2_5'Flank	p.D50H	NM_005522	NP_005513	P49639	HXA1_HUMAN			1	242	-			50					A4D184|B2R8U7|O43363	Missense_Mutation	SNP	ENST00000343060.4	37	c.148G>C	CCDS5401.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749021	0.69533	.	.	ENSG00000105991	ENST00000343060;ENST00000355633	T;T	0.39592	1.07;1.07	5.15	5.15	0.70609	.	0.058541	0.64402	D	0.000002	T	0.66867	0.2833	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.71629	-0.4535	10	0.87932	D	0	.	17.3812	0.87405	0.0:1.0:0.0:0.0	.	50;50	P49639;E7ERT8	HXA1_HUMAN;.	H	50	ENSP00000343246:D50H;ENSP00000347851:D50H	ENSP00000343246:D50H	D	-	1	0	HOXA1	27101909	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	5.505000	0.66981	2.398000	0.81561	0.297000	0.19635	GAC		0.662	HOXA1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358454.1			7	60	0	0	0	0.001984	0	7	60				
NT5C3A	51251	broad.mit.edu	37	7	33057107	33057107	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:33057107C>A	ENST00000242210.7	-	7	728	c.652G>T	c.(652-654)Ggt>Tgt	p.G218C	NT5C3A_ENST00000396152.2_Missense_Mutation_p.G179C|NT5C3A_ENST00000409467.1_Missense_Mutation_p.G167C|NT5C3A_ENST00000610140.1_Missense_Mutation_p.G213C|NT5C3A_ENST00000409787.1_Missense_Mutation_p.G179C|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000405342.1_Missense_Mutation_p.G179C|NT5C3A_ENST00000381626.2_Missense_Mutation_p.G167C	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	218					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.G218C(1)|p.G179C(1)									TGATAAACACCAGCTTGACGA	0.343																																							uc003tdk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(652-654)GGT>TGT		5'-nucleotidase, cytosolic III isoform 1							105.0	99.0	101.0					7																	33057107		2203	4300	6503	SO:0001583	missense	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33057107C>A	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.652G>T	7.37:g.33057107C>A	ENSP00000242210:p.Gly218Cys					AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.G179C|NT5C3_uc003tdj.2_Missense_Mutation_p.G179C	p.G218C	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		7	729	-			218					A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.652G>T	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330095	0.81690	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5;-2.5	5.29	4.4	0.53042	HAD-like domain (2);	0.054079	0.64402	D	0.000001	D	0.94082	0.8103	M	0.80982	2.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94558	0.7760	10	0.72032	D	0.01	.	14.3095	0.66407	0.0:0.9275:0.0:0.0725	.	218;179	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	C	167;179;218;179;167;179	ENSP00000371039:G167C;ENSP00000379456:G179C;ENSP00000242210:G218C;ENSP00000385261:G179C;ENSP00000387166:G167C;ENSP00000387205:G179C	ENSP00000242210:G218C	G	-	1	0	NT5C3	33023632	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.957000	0.63652	2.473000	0.83533	0.655000	0.94253	GGT		0.343	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		25	84	1	0	3.01185e-09	0.003954	3.94431e-09	25	84				
TBX20	57057	broad.mit.edu	37	7	35242089	35242089	+	Missense_Mutation	SNP	T	T	A	rs373392876		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:35242089T>A	ENST00000408931.3	-	8	1823	c.1297A>T	c.(1297-1299)Att>Ttt	p.I433F		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	433					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I433F(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGTCCTTGAATGGCAGCATAG	0.502																																							uc011kas.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1297-1299)ATT>TTT		T-box transcription factor TBX20							31.0	30.0	30.0					7																	35242089		1924	4122	6046	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35242089T>A	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1297A>T	7.37:g.35242089T>A	ENSP00000386170:p.Ile433Phe						p.I433F	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			8	1308	-			433					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.1297A>T	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.998759	0.74818	.	.	ENSG00000164532	ENST00000408931	D	0.89681	-2.55	5.66	1.64	0.23874	.	0.214110	0.47852	D	0.000218	T	0.80864	0.4705	N	0.19112	0.55	0.54753	D	0.999986	B	0.20052	0.041	B	0.24155	0.051	T	0.73902	-0.3836	10	0.54805	T	0.06	.	12.9139	0.58195	0.0:0.0:0.3892:0.6108	.	433	Q9UMR3	TBX20_HUMAN	F	433	ENSP00000386170:I433F	ENSP00000386170:I433F	I	-	1	0	TBX20	35208614	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.931000	0.56529	0.376000	0.24707	0.496000	0.49642	ATT		0.502	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		3	9	0	0	0	0.004672	0	3	9				
YAE1D1	57002	broad.mit.edu	37	7	39610121	39610121	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:39610121G>C	ENST00000223273.2	+	2	189	c.146G>C	c.(145-147)gGa>gCa	p.G49A	YAE1D1_ENST00000469737.1_3'UTR|YAE1D1_ENST00000448268.1_Missense_Mutation_p.G49A|YAE1D1_ENST00000432096.2_Missense_Mutation_p.G49A	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	49								p.G49A(1)									TATAGAGATGGAATAGATGCT	0.368																																							uc003thc.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(145-147)GGA>GCA		hypothetical protein LOC57002							122.0	125.0	124.0					7																	39610121		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39610121G>C	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.146G>C	7.37:g.39610121G>C	ENSP00000223273:p.Gly49Ala						p.G49A	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			2	155	+			49					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.146G>C	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407871	0.83340	.	.	ENSG00000241127	ENST00000223273;ENST00000448268;ENST00000432096	D;D;D	0.99913	-7.97;-7.97;-7.97	6.02	6.02	0.97574	Essential protein Yae1, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99932	0.9969	M	0.90019	3.08	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.96263	0.9192	10	0.87932	D	0	-3.8029	18.7178	0.91682	0.0:0.0:1.0:0.0	.	49	Q9NRH1	CG036_HUMAN	A	49	ENSP00000223273:G49A;ENSP00000400511:G49A;ENSP00000395777:G49A	ENSP00000223273:G49A	G	+	2	0	C7orf36	39576646	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	6.780000	0.75063	2.857000	0.98124	0.650000	0.86243	GGA		0.368	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192		16	135	0	0	0	0.00499	0	16	135				
ADCY1	107	broad.mit.edu	37	7	45650011	45650011	+	Missense_Mutation	SNP	G	G	A	rs80190930		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:45650011G>A	ENST00000297323.7	+	3	845	c.823G>A	c.(823-825)Gtt>Att	p.V275I	ADCY1_ENST00000432715.1_Missense_Mutation_p.V50I	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	275					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|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)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.V275I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCCCGGAACGTTGCCATGGA	0.597																																							uc003tne.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(823-825)GTT>ATT		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						78.0	83.0	81.0					7																	45650011		2203	4300	6503	SO:0001583	missense	107				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|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45650011G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.823G>A	7.37:g.45650011G>A	ENSP00000297323:p.Val275Ile					ADCY1_uc003tnd.2_Missense_Mutation_p.V50I	p.V275I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			3	841	+			275			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.823G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	g	14.26	2.481479	0.44147	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;T	0.84298	-1.83;-1.33	4.88	4.88	0.63580	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.151071	0.42964	N	0.000630	T	0.76492	0.3995	L	0.39085	1.19	0.58432	D	0.999994	B;B	0.27700	0.078;0.186	B;B	0.22880	0.012;0.042	T	0.72164	-0.4373	10	0.08179	T	0.78	.	15.5396	0.76031	0.0:0.0:1.0:0.0	.	275;50	Q08828;C9J1J0	ADCY1_HUMAN;.	I	50;275;275	ENSP00000392721:V50I;ENSP00000297323:V275I	ENSP00000297323:V275I	V	+	1	0	ADCY1	45616536	1.000000	0.71417	0.892000	0.35008	0.990000	0.78478	8.904000	0.92590	2.236000	0.73375	0.500000	0.49745	GTT		0.597	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		13	133	0	0	0	0.004007	0	13	133				
PTPN12	5782	broad.mit.edu	37	7	77265123	77265123	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:77265123G>C	ENST00000248594.6	+	15	2371	c.2099G>C	c.(2098-2100)aGt>aCt	p.S700T	PTPN12_ENST00000435495.2_Missense_Mutation_p.S570T|PTPN12_ENST00000415482.2_Missense_Mutation_p.S581T	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	700					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)	p.S700T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCGGAATGGAGTGAACTTCAA	0.303																																							uc003ugh.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(2098-2100)AGT>ACT		protein tyrosine phosphatase, non-receptor type							58.0	56.0	56.0					7																	77265123		2203	4298	6501	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77265123G>C		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2099G>C	7.37:g.77265123G>C	ENSP00000248594:p.Ser700Thr					PTPN12_uc011kgp.1_Missense_Mutation_p.S581T|PTPN12_uc011kgq.1_Missense_Mutation_p.S570T|PTPN12_uc010lds.2_Missense_Mutation_p.S432T	p.S700T	NM_002835	NP_002826	Q05209	PTN12_HUMAN			15	2190	+			700					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.2099G>C	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030527	0.35797	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000435495;ENST00000407343	T;T;T;T	0.34472	3.67;3.09;3.09;1.36	5.15	1.21	0.21127	.	0.534986	0.22641	N	0.057457	T	0.29223	0.0727	M	0.61703	1.905	0.26184	N	0.97969	B	0.32245	0.361	B	0.22386	0.039	T	0.19712	-1.0297	10	0.66056	D	0.02	.	7.8044	0.29193	0.4467:0.0:0.5533:0.0	.	700	Q05209	PTN12_HUMAN	T	700;581;570;182	ENSP00000248594:S700T;ENSP00000392429:S581T;ENSP00000397991:S570T;ENSP00000385079:S182T	ENSP00000248594:S700T	S	+	2	0	PTPN12	77103059	0.984000	0.35163	0.999000	0.59377	0.980000	0.70556	0.262000	0.18460	0.278000	0.22164	0.655000	0.94253	AGT		0.303	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3			8	29	0	0	0	0.00308	0	8	29				
STEAP4	79689	broad.mit.edu	37	7	87913242	87913242	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:87913242C>G	ENST00000380079.4	-	2	444	c.343G>C	c.(343-345)Gaa>Caa	p.E115Q	AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.E115Q|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.E115Q|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	115					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)	p.E115Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GCATTAGATTCTGGATATTGA	0.433																																							uc003ujs.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(343-345)GAA>CAA		tumor necrosis factor, alpha-induced protein 9							138.0	129.0	132.0					7																	87913242		1884	4121	6005	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87913242C>G	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.343G>C	7.37:g.87913242C>G	ENSP00000369419:p.Glu115Gln					STEAP4_uc010lek.2_Missense_Mutation_p.E115Q|STEAP4_uc003ujt.2_Missense_Mutation_p.E115Q	p.E115Q	NM_024636	NP_078912	Q687X5	STEA4_HUMAN			2	448	-	Esophageal squamous(14;0.00802)		115					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.343G>C	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113586	0.37339	.	.	ENSG00000127954	ENST00000380079;ENST00000301959;ENST00000414498	T;T;T	0.17528	2.27;2.27;2.27	5.91	2.98	0.34508	NAD(P)-binding domain (1);	0.135180	0.64402	N	0.000003	T	0.17704	0.0425	L	0.50919	1.6	0.45621	D	0.998553	B;P;P	0.38395	0.241;0.629;0.629	B;B;B	0.32022	0.066;0.139;0.139	T	0.09640	-1.0665	10	0.59425	D	0.04	-13.6705	18.2793	0.90092	0.0:0.5554:0.4446:0.0	.	115;115;115	Q687X5-2;C9JS50;Q687X5	.;.;STEA4_HUMAN	Q	115	ENSP00000369419:E115Q;ENSP00000305545:E115Q;ENSP00000394399:E115Q	ENSP00000305545:E115Q	E	-	1	0	STEAP4	87751178	0.996000	0.38824	0.980000	0.43619	0.935000	0.57460	3.258000	0.51507	0.834000	0.34852	-0.172000	0.13284	GAA		0.433	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		8	126	0	0	0	0.004482	0	8	126				
ZNF804B	219578	broad.mit.edu	37	7	88965143	88965143	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:88965143C>A	ENST00000333190.4	+	4	3456	c.2847C>A	c.(2845-2847)aaC>aaA	p.N949K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	949							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTCTTCAAACAGTTGTAAAA	0.403										HNSCC(36;0.09)																													uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2845-2847)AAC>AAA		zinc finger protein 804B							113.0	118.0	116.0					7																	88965143		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88965143C>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2847C>A	7.37:g.88965143C>A	ENSP00000329638:p.Asn949Lys	HNSCC(36;0.09)					p.N949K	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3385	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		949					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2847C>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	C	7.880	0.730082	0.15507	.	.	ENSG00000182348	ENST00000333190	T	0.05786	3.39	5.34	1.26	0.21427	.	0.515191	0.20550	N	0.090128	T	0.02455	0.0075	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44952	-0.9294	10	0.13108	T	0.6	-1.0469	2.3215	0.04212	0.1247:0.4648:0.1324:0.2781	.	949	A4D1E1	Z804B_HUMAN	K	949	ENSP00000329638:N949K	ENSP00000329638:N949K	N	+	3	2	ZNF804B	88803079	0.016000	0.18221	0.034000	0.17996	0.726000	0.41606	-0.179000	0.09768	0.389000	0.25086	0.655000	0.94253	AAC		0.403	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		49	145	1	0	5.2432e-18	0.00361	7.51822e-18	49	145				
STEAP1	26872	broad.mit.edu	37	7	89793973	89793973	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:89793973G>A	ENST00000297205.2	+	5	1145	c.945G>A	c.(943-945)aaG>aaA	p.K315K	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	315					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)	p.K315K(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GCTTGAGGAAGAAGATACTGA	0.348																																							uc003ujx.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(943-945)AAG>AAA		six transmembrane epithelial antigen of the							86.0	79.0	81.0					7																	89793973		2203	4300	6503	SO:0001819	synonymous_variant	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89793973G>A	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.945G>A	7.37:g.89793973G>A						STEAP2_uc003ujy.2_5'Flank	p.K315K	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN			5	1145	+	all_hematologic(106;0.112)		315					A4D1E0|O95034	Silent	SNP	ENST00000297205.2	37	c.945G>A	CCDS5614.1																																																																																				0.348	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		6	71	0	0	0	0.001168	0	6	71				
GTPBP10	85865	broad.mit.edu	37	7	89984473	89984473	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:89984473C>G	ENST00000222511.6	+	4	459	c.393C>G	c.(391-393)ttC>ttG	p.F131L	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	131					ribosome biogenesis (GO:0042254)	chromosome (GO:0005694)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)	p.F131L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TTACAAATTTCTTACCATTGA	0.328																																							uc003ukm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(391-393)TTC>TTG		GTP-binding protein 10 isoform 2							101.0	107.0	105.0					7																	89984473		2203	4298	6501	SO:0001583	missense	85865				ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding	g.chr7:89984473C>G		CCDS5617.1, CCDS43614.1	7q21.13	2006-08-15			ENSG00000105793	ENSG00000105793			25106	protein-coding gene	gene with protein product		610920				12477932	Standard	NM_001042717		Approved	DKFZP686A10121, FLJ38242	uc003ukm.2	A4D1E9	OTTHUMG00000023655	ENST00000222511.6:c.393C>G	7.37:g.89984473C>G	ENSP00000222511:p.Phe131Leu					GTPBP10_uc003uki.1_Missense_Mutation_p.F148L|GTPBP10_uc003ukj.1_Missense_Mutation_p.F122L|GTPBP10_uc003ukk.1_Intron|GTPBP10_uc003ukl.1_RNA|GTPBP10_uc003ukn.1_Intron|GTPBP10_uc003uko.1_Intron	p.F131L	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN			4	459	+			131					B4DFY6|Q3B7A6|Q5H9V2|Q8IXG8|Q8N982|Q8WU16|Q9BSP1|Q9Y6T6	Missense_Mutation	SNP	ENST00000222511.6	37	c.393C>G	CCDS5617.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082452	0.76528	.	.	ENSG00000105793	ENST00000426366;ENST00000450619;ENST00000222511	T;T;T	0.28255	1.62;1.62;1.62	5.93	2.19	0.27852	GTP1/OBG subdomain (2);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	M	0.62209	1.925	0.58432	D	0.999992	D;D;B	0.67145	0.996;0.996;0.382	D;D;P	0.67382	0.951;0.934;0.549	T	0.23048	-1.0199	9	.	.	.	-1.0E-4	10.4195	0.44341	0.0:0.6829:0.0:0.3171	.	131;122;148	A4D1E9;C9J8R7;C9JNI1	GTPBA_HUMAN;.;.	L	122;148;131	ENSP00000405697:F122L;ENSP00000389510:F148L;ENSP00000222511:F131L	.	F	+	3	2	GTPBP10	89822409	0.999000	0.42202	0.996000	0.52242	0.997000	0.91878	0.827000	0.27421	0.130000	0.18549	0.655000	0.94253	TTC		0.328	GTPBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059976.3	NM_033107		6	122	0	0	0	0.001168	0	6	122				
PLOD3	8985	broad.mit.edu	37	7	100850884	100850885	+	Missense_Mutation	DNP	CT	CT	AC			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:100850884_100850885CT>AC	ENST00000223127.3	-	17	2307_2308	c.1909_1910AG>GT	c.(1909-1911)AGc>GTc	p.S637V		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	637					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.S637V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGGAAACAGGCTCTCGGTCATG	0.644																																							uc003uyd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1909-1911)AGC>GTC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)																																			SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100850884_100850885CT>AC	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1909_1910delinsAC	7.37:g.100850884_100850885delinsAC	ENSP00000223127:p.Ser637Val					PLOD3_uc010lhs.2_Missense_Mutation_p.S202V	p.S637V	NM_001084	NP_001075	O60568	PLOD3_HUMAN			17	2365_2366	-	Lung NSC(181;0.168)|all_lung(186;0.215)		637					B2R6W6|Q540C3	Missense_Mutation	DNP	ENST00000223127.3	37	c.1909_1910AG>GT	CCDS5715.1																																																																																				0.644	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			6	31	0	0	0	0.004672	0	6	31				
Unknown	0	broad.mit.edu	37	7	101988909	101988909	+	IGR	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:101988909G>C								Y_RNA (11527 upstream) : PRKRIP1 (15434 downstream)																							CTGGCCCTCGGGTTCGTGGAA	0.572																																							uc011kkp.1		NA																	0					0						c.(964-966)CCG>GCG		speedy homolog E6							1.0	1.0	1.0					7																	101988909		64	212	276	SO:0001628	intergenic_variant	729597							g.chr7:101988909G>C																													7.37:g.101988909G>C						SPDYE6_uc003uzb.2_Missense_Mutation_p.P178A	p.P322A	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN			6	1385	-			322			Arg-rich.			Missense_Mutation	SNP		37	c.964C>G																																																																																				0	0.572									14	356	0	0	0	0.00278	0	14	356				
NRCAM	4897	broad.mit.edu	37	7	107880462	107880462	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:107880462C>T	ENST00000425651.2	-	1	46	c.47G>A	c.(46-48)aGa>aAa	p.R16K	NRCAM_ENST00000413765.2_Missense_Mutation_p.R16K|NRCAM_ENST00000379028.3_Missense_Mutation_p.R16K|NRCAM_ENST00000351718.4_Missense_Mutation_p.R16K|NRCAM_ENST00000379022.4_Missense_Mutation_p.R16K|NRCAM_ENST00000379024.4_Missense_Mutation_p.R16K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	16					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)	p.R16K(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGGGGCACTCTGCCCGCAGA	0.433																																							uc003vfb.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(2)	5						c.(46-48)AGA>AAA		neuronal cell adhesion molecule isoform A							126.0	125.0	125.0					7																	107880462		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107880462C>T		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.47G>A	7.37:g.107880462C>T	ENSP00000401244:p.Arg16Lys					NRCAM_uc003vfc.2_Missense_Mutation_p.R16K|NRCAM_uc011kmk.1_Missense_Mutation_p.R11K|NRCAM_uc003vfd.2_Missense_Mutation_p.R11K|NRCAM_uc003vfe.2_Missense_Mutation_p.R11K	p.R16K	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN			4	518	-			16					A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.47G>A	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715346	0.48622	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701;ENST00000442580;ENST00000419936;ENST00000456431;ENST00000418239	T;T;T;T;T;T;T;T;T;T	0.74842	0.44;0.67;0.4;0.47;0.44;0.44;-0.22;-0.82;-0.88;-0.88	6.17	4.34	0.51931	.	0.434175	0.28499	N	0.015134	T	0.54287	0.1849	N	0.22421	0.69	0.19300	N	0.999973	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.10450	0.003;0.002;0.005;0.002;0.001	T	0.35076	-0.9803	10	0.02654	T	1	.	10.0282	0.42085	0.0:0.7608:0.1192:0.12	.	16;16;16;16;16	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	K	16	ENSP00000368314:R16K;ENSP00000407858:R16K;ENSP00000325269:R16K;ENSP00000368310:R16K;ENSP00000401244:R16K;ENSP00000368308:R16K;ENSP00000390421:R16K;ENSP00000390868:R16K;ENSP00000397544:R16K;ENSP00000408203:R16K	ENSP00000325269:R16K	R	-	2	0	NRCAM	107667698	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	2.974000	0.49272	1.596000	0.50062	0.655000	0.94253	AGA		0.433	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		13	106	0	0	0	0.004007	0	13	106				
GPR85	54329	broad.mit.edu	37	7	112723882	112723882	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:112723882C>A	ENST00000297146.3	-	3	1498	c.895G>T	c.(895-897)Ggc>Tgc	p.G299C	GPR85_ENST00000487573.1_5'Flank|GPR85_ENST00000449591.1_Missense_Mutation_p.G299C|GPR85_ENST00000501255.2_Missense_Mutation_p.G299C|GPR85_ENST00000424100.1_Missense_Mutation_p.G299C	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85	299					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G299C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AGGTAGGGGCCCCACAAGGTT	0.458																																							uc010ljv.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(895-897)GGC>TGC		G protein-coupled receptor 85							68.0	74.0	72.0					7																	112723882		2203	4300	6503	SO:0001583	missense	54329					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:112723882C>A	AF250237	CCDS5758.1	7q31	2012-08-21			ENSG00000164604	ENSG00000164604		"""GPCR / Class A : Orphans"""	4536	protein-coding gene	gene with protein product		605188				10978537, 10833454	Standard	NM_018970		Approved	SREB2	uc003vgp.1	P60893	OTTHUMG00000156933	ENST00000297146.3:c.895G>T	7.37:g.112723882C>A	ENSP00000297146:p.Gly299Cys					GPR85_uc003vgp.1_Missense_Mutation_p.G299C|GPR85_uc003vgq.2_Missense_Mutation_p.G299C|GPR85_uc010ljw.1_Missense_Mutation_p.G299C	p.G299C	NM_001146266	NP_001139738	P60893	GPR85_HUMAN			2	1412	-			299			Helical; Name=6; (Potential).		Q9JHI6|Q9NPD1	Missense_Mutation	SNP	ENST00000297146.3	37	c.895G>T	CCDS5758.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.246949	0.39697	.	.	ENSG00000164604	ENST00000501255;ENST00000297146;ENST00000424100;ENST00000449591	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	5.43	5.43	0.79202	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79058	0.4382	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.78653	-0.2120	10	0.49607	T	0.09	.	19.6103	0.95602	0.0:1.0:0.0:0.0	.	299	P60893	GPR85_HUMAN	C	299	ENSP00000445808:G299C;ENSP00000297146:G299C;ENSP00000396763:G299C;ENSP00000401178:G299C	ENSP00000297146:G299C	G	-	1	0	GPR85	112511118	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.803000	0.55560	2.718000	0.92993	0.585000	0.79938	GGC		0.458	GPR85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346650.2			32	64	1	0	2.70662e-09	0.009535	3.55559e-09	32	64				
CTTNBP2	83992	broad.mit.edu	37	7	117432597	117432597	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:117432597C>T	ENST00000160373.3	-	4	744	c.653G>A	c.(652-654)cGa>cAa	p.R218Q	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	218					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.R218Q(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGTGCTTCTTCGTTTCTCAGC	0.478																																							uc003vjf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(652-654)CGA>CAA		cortactin binding protein 2							130.0	115.0	120.0					7																	117432597		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432597C>T		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.653G>A	7.37:g.117432597C>T	ENSP00000160373:p.Arg218Gln						p.R218Q	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	745	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		218			Potential.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.653G>A	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	C	5.777	0.327638	0.10956	.	.	ENSG00000077063	ENST00000160373	T	0.63096	-0.02	5.77	2.46	0.29980	.	0.230345	0.46442	N	0.000300	T	0.38639	0.1048	N	0.21448	0.665	0.38216	D	0.940607	B	0.12013	0.005	B	0.08055	0.003	T	0.13282	-1.0515	10	0.11794	T	0.64	-1.419	5.4027	0.16305	0.0:0.4496:0.0:0.5504	.	218	Q8WZ74	CTTB2_HUMAN	Q	218	ENSP00000160373:R218Q	ENSP00000160373:R218Q	R	-	2	0	CTTNBP2	117219833	0.129000	0.22400	0.828000	0.32881	0.610000	0.37248	0.497000	0.22514	0.874000	0.35823	0.650000	0.86243	CGA		0.478	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		9	47	0	0	0	0.004482	0	9	47				
ANKRD7	56311	broad.mit.edu	37	7	117876107	117876107	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:117876107C>T	ENST00000265224.4	+	4	636	c.481C>T	c.(481-483)Cca>Tca	p.P161S	ANKRD7_ENST00000357099.4_Missense_Mutation_p.P181S|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Missense_Mutation_p.P108S|ANKRD7_ENST00000433239.1_Missense_Mutation_p.P108S	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	161					male gonad development (GO:0008584)	nucleus (GO:0005634)		p.P181S(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TGGGTATACTCCACTATTAGT	0.279																																							uc003vji.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(481-483)CCA>TCA		ankyrin repeat domain 7							62.0	63.0	62.0					7																	117876107		1790	4061	5851	SO:0001583	missense	56311				male gonad development			g.chr7:117876107C>T	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.481C>T	7.37:g.117876107C>T	ENSP00000265224:p.Pro161Ser						p.P161S	NM_019644	NP_062618	Q92527	ANKR7_HUMAN			4	654	+			161			ANK 4.		B4DYF5|Q96QN1|Q9UDM3	Missense_Mutation	SNP	ENST00000265224.4	37	c.481C>T	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863076	0.51482	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	5.12	4.24	0.50183	Ankyrin repeat-containing domain (3);	0.000000	0.47455	D	0.000224	D	0.82972	0.5153	M	0.82517	2.595	0.54753	D	0.999987	D	0.71674	0.998	D	0.64237	0.923	D	0.84934	0.0861	10	0.52906	T	0.07	-8.5616	13.853	0.63508	0.0:0.9245:0.0:0.0755	.	161	Q92527	ANKR7_HUMAN	S	181;161;108;108	ENSP00000349612:P181S;ENSP00000265224:P161S;ENSP00000395595:P108S;ENSP00000388473:P108S	ENSP00000265224:P161S	P	+	1	0	ANKRD7	117663343	0.999000	0.42202	0.998000	0.56505	0.448000	0.32197	3.873000	0.56093	1.293000	0.44690	0.491000	0.48974	CCA		0.279	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708		8	83	0	0	0	0.00308	0	8	83				
RNF133	168433	broad.mit.edu	37	7	122338097	122338097	+	Silent	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:122338097T>A	ENST00000340112.2	-	1	1113	c.876A>T	c.(874-876)acA>acT	p.T292T	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	292					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.T292T(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATGGGGCATGTCCCATGGG	0.383																																					Colon(198;1778 2057 7449 19869 45985)	Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(874-876)ACA>ACT		ring finger protein 133							81.0	81.0	81.0					7																	122338097		2203	4299	6502	SO:0001819	synonymous_variant	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338097T>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.876A>T	7.37:g.122338097T>A						CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	p.T292T	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			1	1112	-			292			RING-type; atypical.		A4D0W2|Q8N7G7	Silent	SNP	ENST00000340112.2	37	c.876A>T	CCDS5784.1																																																																																				0.383	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		24	80	0	0	0	0.00333	0	24	80				
WASL	8976	broad.mit.edu	37	7	123332669	123332669	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:123332669G>A	ENST00000223023.4	-	9	1411	c.1079C>T	c.(1078-1080)cCa>cTa	p.P360L		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	360	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.P360L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGGTGGTGGTGGAGGCCC	0.667																																							uc003vkz.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1078-1080)CCA>CTA		Wiskott-Aldrich syndrome gene-like protein							74.0	78.0	76.0					7																	123332669		2203	4300	6503	SO:0001583	missense	8976				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	g.chr7:123332669G>A	D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1079C>T	7.37:g.123332669G>A	ENSP00000223023:p.Pro360Leu						p.P360L	NM_003941	NP_003932	O00401	WASL_HUMAN			9	1407	-			360			Pro-rich.		A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	c.1079C>T	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857548	0.71834	.	.	ENSG00000106299	ENST00000223023	D	0.91577	-2.87	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95617	0.8575	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95582	0.8647	10	0.59425	D	0.04	-11.2899	19.2285	0.93827	0.0:0.0:1.0:0.0	.	360	O00401	WASL_HUMAN	L	360	ENSP00000223023:P360L	ENSP00000223023:P360L	P	-	2	0	WASL	123119905	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	7.287000	0.78681	2.532000	0.85374	0.650000	0.86243	CCA		0.667	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1	NM_003941		23	117	0	0	0	0.002299	0	23	117				
CNOT4	4850	broad.mit.edu	37	7	135080502	135080502	+	Nonsense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:135080502G>C	ENST00000315544.5	-	9	1292	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	CNOT4_ENST00000541284.1_Nonsense_Mutation_p.S338*|CNOT4_ENST00000414802.1_Nonsense_Mutation_p.S338*|CNOT4_ENST00000361528.4_Nonsense_Mutation_p.S335*|CNOT4_ENST00000423368.2_Nonsense_Mutation_p.S338*|CNOT4_ENST00000428680.2_Nonsense_Mutation_p.S335*|CNOT4_ENST00000451834.1_Nonsense_Mutation_p.S335*|CNOT4_ENST00000356162.4_Nonsense_Mutation_p.S338*	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	338					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S338*(3)|p.S335*(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AAAATTGTCTGAGAATAACGA	0.517																																					Ovarian(51;766 1130 5502 35047 50875)	Ovarian(51;766 1130 5502 35047 50875)	uc003vsv.1		NA																	4	Substitution - Nonsense(4)		lung(4)		0						c.(1012-1014)TCA>TGA		CCR4-NOT transcription complex, subunit 4							184.0	182.0	183.0					7																	135080502		1987	4155	6142	SO:0001587	stop_gained	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135080502G>C	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1013C>G	7.37:g.135080502G>C	ENSP00000326731:p.Ser338*					CNOT4_uc003vss.2_Nonsense_Mutation_p.S335*|CNOT4_uc011kpz.1_Nonsense_Mutation_p.S335*|CNOT4_uc003vst.2_Nonsense_Mutation_p.S338*|CNOT4_uc003vsu.1_Nonsense_Mutation_p.S335*|CNOT4_uc011kpy.1_Nonsense_Mutation_p.S338*	p.S338*	NM_001008225	NP_001008226	O95628	CNOT4_HUMAN			9	1320	-			338					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Nonsense_Mutation	SNP	ENST00000315544.5	37	c.1013C>G	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	40	8.006110	0.98607	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-12.4789	19.3475	0.94370	0.0:0.0:1.0:0.0	.	.	.	.	X	338;335;338;338;335;338;338;335;338	.	ENSP00000262563:S338X	S	-	2	0	CNOT4	134731042	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.822000	0.97130	0.557000	0.71058	TCA		0.517	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		12	66	0	0	0	0.001368	0	12	66				
TRIM24	8805	broad.mit.edu	37	7	138189108	138189108	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:138189108G>T	ENST00000343526.4	+	2	653	c.438G>T	c.(436-438)aaG>aaT	p.K146N	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.K146N			O15164	TIF1A_HUMAN	tripartite motif containing 24	146					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K146N(2)|p.K146K(2)|p.K104N(1)|p.K104K(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTTTGTGAAGGACACTACTG	0.373																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	6	Substitution - Missense(3)|Substitution - coding silent(3)		lung(6)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(436-438)AAG>AAT		transcriptional intermediary factor 1 alpha							110.0	109.0	109.0					7																	138189108		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138189108G>T	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.438G>T	7.37:g.138189108G>T	ENSP00000340507:p.Lys146Asn					TRIM24_uc003vub.2_Missense_Mutation_p.K146N	p.K146N	NM_015905	NP_056989	O15164	TIF1A_HUMAN			2	653	+			146					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.438G>T	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818350	0.71028	.	.	ENSG00000122779	ENST00000343526;ENST00000452999;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.77620	-1.11;-1.06	5.15	1.1	0.20463	.	0.108833	0.64402	D	0.000009	T	0.70919	0.3279	N	0.11845	0.185	0.40406	D	0.9797	B;D	0.71674	0.005;0.998	B;D	0.70016	0.002;0.967	T	0.64575	-0.6375	10	0.19147	T	0.46	-19.0301	8.2164	0.31514	0.4968:0.0:0.5032:0.0	.	146;146	O15164;O15164-2	TIF1A_HUMAN;.	N	146;146;57;146;104	ENSP00000340507:K146N;ENSP00000390829:K146N	ENSP00000340507:K146N	K	+	3	2	TRIM24	137839648	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.875000	0.39578	0.345000	0.23873	0.637000	0.83480	AAG		0.373	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		24	133	1	0	2.21704e-12	0.00278	3.04482e-12	24	133				
SVOPL	136306	broad.mit.edu	37	7	138347839	138347839	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:138347839C>T	ENST00000419765.3	-	4	358	c.325G>A	c.(325-327)Gac>Aac	p.D109N	SVOPL_ENST00000421622.1_Intron|SVOPL_ENST00000288513.5_5'UTR|SVOPL_ENST00000436657.1_5'UTR	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	109						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.D109N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCATATCTGTCAGCCAGGAGG	0.453																																							uc011kqh.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(325-327)GAC>AAC		SVOP-like isoform 1							87.0	79.0	82.0					7																	138347839		2203	4300	6503	SO:0001583	missense	136306					integral to membrane	transmembrane transporter activity	g.chr7:138347839C>T	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.325G>A	7.37:g.138347839C>T	ENSP00000405482:p.Asp109Asn					SVOPL_uc003vue.2_5'UTR	p.D109N	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			4	325	-			109						Missense_Mutation	SNP	ENST00000419765.3	37	c.325G>A	CCDS47721.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137296	0.94517	.	.	ENSG00000157703	ENST00000419765	T	0.73152	-0.72	4.96	4.96	0.65561	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.	.	.	.	D	0.86883	0.6040	M	0.91406	3.205	0.80722	D	1	D	0.65815	0.995	D	0.67382	0.951	D	0.90187	0.4247	9	0.87932	D	0	-7.8797	16.9682	0.86291	0.0:1.0:0.0:0.0	.	109	Q8N434	SVOPL_HUMAN	N	109	ENSP00000405482:D109N	ENSP00000405482:D109N	D	-	1	0	SVOPL	137998379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.564000	0.73969	2.293000	0.77203	0.655000	0.94253	GAC		0.453	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4	NM_174959		6	27	0	0	0	0.00308	0	6	27				
ZNF786	136051	broad.mit.edu	37	7	148769014	148769014	+	Missense_Mutation	SNP	G	G	C	rs201964655		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:148769014G>C	ENST00000491431.1	-	4	914	c.850C>G	c.(850-852)Ccc>Gcc	p.P284A	ZNF786_ENST00000451334.3_Missense_Mutation_p.P247A|ZNF786_ENST00000316286.9_Missense_Mutation_p.P198A	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P283A(1)		breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGGTGGCTGGGATGGGTCAGC	0.697																																							uc003wfh.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(850-852)CCC>GCC		zinc finger protein 786		G	ALA/PRO	0,4284		0,0,2142	19.0	24.0	22.0		850	0.4	0.0	7		22	1,8487		0,1,4243	yes	missense	ZNF786	NM_152411.3	27	0,1,6385	CC,CG,GG		0.0118,0.0,0.0078	benign	284/783	148769014	1,12771	2142	4244	6386	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769014G>C	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.850C>G	7.37:g.148769014G>C	ENSP00000417470:p.Pro284Ala					ZNF786_uc011kuk.1_Missense_Mutation_p.P247A|ZNF786_uc003wfi.2_Missense_Mutation_p.P198A	p.P284A	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	987	-	Melanoma(164;0.15)		284					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.850C>G	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	G	5.191	0.220797	0.09863	0.0	1.18E-4	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.59364	3.22;0.27;3.28	3.87	0.364	0.16124	.	1.235430	0.06267	N	0.694940	T	0.23370	0.0565	N	0.00991	-1.07	0.09310	N	1	B	0.16396	0.017	B	0.14023	0.01	T	0.20638	-1.0269	10	0.07030	T	0.85	-3.0382	6.9318	0.24445	0.4087:0.0:0.5913:0.0	.	284	Q8N393	ZN786_HUMAN	A	198;198;284;247	ENSP00000313516:P198A;ENSP00000417470:P284A;ENSP00000404984:P247A	ENSP00000313516:P198A	P	-	1	0	ZNF786	148399947	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.703000	0.05063	-0.128000	0.11641	0.561000	0.74099	CCC		0.697	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		5	31	0	0	0	0.000602	0	5	31				
SSPO	23145	broad.mit.edu	37	7	149519225	149519225	+	RNA	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr7:149519225C>T	ENST00000378016.2	+	0	13029							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGCCGACCCCACCTGCAACA	0.672																																							uc010lpk.2		NA																	0					0						c.(13027-13029)CCC>CCT		SCO-spondin precursor							42.0	46.0	45.0					7																	149519225		1945	4131	6076			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149519225C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149519225C>T						SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_5'Flank	p.P4343P	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		91	13029	+	Melanoma(164;0.165)|Ovarian(565;0.177)		4343			TSP type-1 21.		Q76B61	Silent	SNP	ENST00000378016.2	37	c.13029C>T																																																																																					0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	54	0	0	0	0.00308	0	6	54				
BMP1	649	broad.mit.edu	37	8	22067158	22067158	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:22067158G>A	ENST00000306385.5	+	19	3446	c.2776G>A	c.(2776-2778)Gac>Aac	p.D926N	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	926	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.D926N(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAGCTCTTCGACGGCTACGA	0.667																																							uc003xbg.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2776-2778)GAC>AAC		bone morphogenetic protein 1 isoform 3							160.0	136.0	144.0					8																	22067158		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22067158G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2776G>A	8.37:g.22067158G>A	ENSP00000305714:p.Asp926Asn					BMP1_uc011kzc.1_Missense_Mutation_p.D675N|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA	p.D926N	NM_006129	NP_006120	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	19	3020	+			926			CUB 5.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2776G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189399	0.94923	.	.	ENSG00000168487	ENST00000306385	T	0.43294	0.95	4.76	4.76	0.60689	CUB (5);	0.000000	0.40554	U	0.001077	T	0.55065	0.1897	L	0.55834	1.745	0.80722	D	1	P	0.51449	0.945	P	0.57324	0.818	T	0.53005	-0.8499	10	0.41790	T	0.15	.	16.7077	0.85376	0.0:0.0:1.0:0.0	.	926	P13497	BMP1_HUMAN	N	926	ENSP00000305714:D926N	ENSP00000305714:D926N	D	+	1	0	BMP1	22123103	1.000000	0.71417	0.978000	0.43139	0.890000	0.51754	7.790000	0.85794	2.475000	0.83589	0.563000	0.77884	GAC		0.667	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		12	101	0	0	0	0.003163	0	12	101				
CHRNA2	1135	broad.mit.edu	37	8	27328547	27328547	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:27328547G>T	ENST00000520933.2	-	1	182	c.29C>A	c.(28-30)tCc>tAc	p.S10Y	CHRNA2_ENST00000240132.2_Missense_Mutation_p.S10Y|CHRNA2_ENST00000407991.1_Missense_Mutation_p.S10Y			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	10					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.S10Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	CTTTGTGAAGGACAGGAACAC	0.562																																							uc010lur.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(28-30)TCC>TAC		cholinergic receptor, nicotinic, alpha	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						91.0	79.0	83.0					8																	27328547		2203	4300	6503	SO:0001583	missense	1135					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27328547G>T	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.29C>A	8.37:g.27328547G>T	ENSP00000429616:p.Ser10Tyr					CHRNA2_uc011lal.1_Missense_Mutation_p.S10Y|CHRNA2_uc010lus.2_5'UTR	p.S10Y	NM_000742	NP_000733	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	2	638	-		Ovarian(32;2.61e-05)	10					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.29C>A	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	G	9.956	1.221554	0.22457	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712;ENST00000521921;ENST00000520208	T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62	4.42	2.61	0.31194	.	1.773200	0.02729	N	0.114902	T	0.28665	0.0710	N	0.08118	0	0.09310	N	1	B;B	0.30406	0.278;0.278	B;B	0.21917	0.037;0.037	T	0.23797	-1.0178	10	0.48119	T	0.1	.	6.3304	0.21266	0.2236:0.0:0.7764:0.0	.	10;10	B4DK19;Q15822	.;ACHA2_HUMAN	Y	10	ENSP00000385026:S10Y;ENSP00000429616:S10Y;ENSP00000240132:S10Y;ENSP00000430422:S10Y;ENSP00000430856:S10Y;ENSP00000429953:S10Y;ENSP00000430994:S10Y	ENSP00000240132:S10Y	S	-	2	0	CHRNA2	27384464	0.026000	0.19158	0.002000	0.10522	0.022000	0.10575	0.868000	0.27982	0.788000	0.33755	0.655000	0.94253	TCC		0.562	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			5	23	1	0	2.0095e-06	0.001984	2.38769e-06	5	23				
WRN	7486	broad.mit.edu	37	8	31024633	31024633	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:31024633G>C	ENST00000298139.5	+	34	4327	c.4078G>C	c.(4078-4080)Gac>Cac	p.D1360H	RP11-363L24.3_ENST00000521252.1_RNA	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1360					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.D1360H(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACATGGTCCTGACAGCGGACT	0.398			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	Ovarian(18;161 598 2706 14834 27543)	uc003xio.3		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(4078-4080)GAC>CAC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							122.0	108.0	113.0					8																	31024633		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31024633G>C		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.4078G>C	8.37:g.31024633G>C	ENSP00000298139:p.Asp1360His					WRN_uc010lvk.2_Missense_Mutation_p.D827H	p.D1360H	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	34	4866	+		Breast(100;0.195)	1360					A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.4078G>C	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	9.587	1.125121	0.20959	.	.	ENSG00000165392	ENST00000298139	T	0.51817	0.69	4.86	0.731	0.18277	.	0.303860	0.27802	N	0.017793	T	0.33789	0.0875	L	0.42245	1.32	0.09310	N	1	B;B	0.18741	0.014;0.03	B;B	0.17098	0.011;0.017	T	0.17715	-1.0360	10	0.29301	T	0.29	-2.4139	7.298	0.26403	0.1527:0.3997:0.4476:0.0	.	770;1360	Q59F09;Q14191	.;WRN_HUMAN	H	1360	ENSP00000298139:D1360H	ENSP00000298139:D1360H	D	+	1	0	WRN	31144175	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.769000	0.26604	0.004000	0.14682	-0.175000	0.13238	GAC		0.398	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			11	73	0	0	0	0.010729	0	11	73				
PRKDC	5591	broad.mit.edu	37	8	48817449	48817449	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:48817449C>A	ENST00000314191.2	-	26	3078	c.3022G>T	c.(3022-3024)Gcc>Tcc	p.A1008S	PRKDC_ENST00000338368.3_Missense_Mutation_p.A1008S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1008				A -> S (in Ref. 2; AAC50210). {ECO:0000305}.	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)	p.A1008S(2)		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)	TCTAGTAAGGCAACAGTATCC	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(3022-3024)GCC>TCC	NHEJ	protein kinase, DNA-activated, catalytic							144.0	140.0	142.0					8																	48817449		1885	4117	6002	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.chr8:48817449C>A		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.3022G>T	8.37:g.48817449C>A	ENSP00000313420:p.Ala1008Ser					PRKDC_uc003xqj.2_Missense_Mutation_p.A1008S|PRKDC_uc011ldh.1_Missense_Mutation_p.A1008S	p.A1008S	NM_006904	NP_008835	P78527	PRKDC_HUMAN			26	3079	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1008	A -> S (in Ref. 2; AAC50210).		HEAT 2.		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.3022G>T		.	.	.	.	.	.	.	.	.	.	C	15.78	2.934787	0.52866	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64085	-0.08;-0.08	5.38	4.31	0.51392	Armadillo-type fold (1);	0.146673	0.46758	D	0.000263	T	0.64080	0.2566	.	.	.	0.45330	D	0.998325	P;P;P	0.50819	0.906;0.939;0.939	P;P;P	0.50440	0.641;0.637;0.637	T	0.63642	-0.6591	9	0.39692	T	0.17	.	12.3555	0.55174	0.0:0.8465:0.0:0.1535	.	1008;1008;1008	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	S	1008	ENSP00000313420:A1008S;ENSP00000345182:A1008S	ENSP00000313420:A1008S	A	-	1	0	PRKDC	48980002	0.961000	0.32948	0.541000	0.28102	0.919000	0.55068	2.311000	0.43717	2.511000	0.84671	0.462000	0.41574	GCC		0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		12	98	1	0	2.27111e-07	0.001368	2.83386e-07	12	98				
TOX	9760	broad.mit.edu	37	8	59750834	59750834	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:59750834C>A	ENST00000361421.1	-	5	950	c.730G>T	c.(730-732)Ggg>Tgg	p.G244W		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	244						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G244W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGTTTTTTCCCCATATCAGAG	0.443																																					Pancreas(161;610 1969 17913 21374 22725)	Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)|lung(1)|skin(1)	4						c.(730-732)GGG>TGG		thymus high mobility group box protein TOX							68.0	76.0	73.0					8																	59750834		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59750834C>A		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.730G>T	8.37:g.59750834C>A	ENSP00000354842:p.Gly244Trp						p.G244W	NM_014729	NP_055544	O94900	TOX_HUMAN			5	951	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	244			Nuclear localization signal (Potential).		Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.730G>T	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.960991	0.74016	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.15372	2.43	5.79	5.79	0.91817	High mobility group, superfamily (1);	0.235415	0.43579	D	0.000553	T	0.34600	0.0903	M	0.66939	2.045	0.54753	D	0.999983	D	0.58620	0.983	P	0.53006	0.715	T	0.01068	-1.1462	9	.	.	.	.	20.0368	0.97565	0.0:1.0:0.0:0.0	.	244	O94900	TOX_HUMAN	W	244;2	ENSP00000354842:G244W	.	G	-	1	0	TOX	59913388	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.636000	0.61339	2.727000	0.93392	0.591000	0.81541	GGG		0.443	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		9	112	1	0	2.17888e-05	0.006214	2.51135e-05	9	112				
CLVS1	157807	broad.mit.edu	37	8	62212729	62212729	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:62212729G>A	ENST00000519846.1	+	3	815	c.343G>A	c.(343-345)Gat>Aat	p.D115N	CLVS1_ENST00000325897.4_Missense_Mutation_p.D115N|CLVS1_ENST00000518592.1_Intron|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	115					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.D115N(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAAGGCAGATGATCCCGGCAT	0.507																																							uc003xuh.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(343-345)GAT>AAT		retinaldehyde binding protein 1-like 1							55.0	56.0	56.0					8																	62212729		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212729G>A	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.343G>A	8.37:g.62212729G>A	ENSP00000428402:p.Asp115Asn					CLVS1_uc003xug.2_Missense_Mutation_p.D115N|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Missense_Mutation_p.D115N	p.D115N	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN			2	667	+			115					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.343G>A	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.482670	0.84747	.	.	ENSG00000177182	ENST00000519846;ENST00000325897	T;T	0.81078	-1.45;-1.45	5.6	5.6	0.85130	Cellular retinaldehyde-binding/triple function, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86247	0.5887	L	0.55990	1.75	0.80722	D	1	B;P	0.49307	0.093;0.922	B;P	0.57846	0.017;0.828	D	0.84408	0.0564	9	.	.	.	-20.9624	19.6296	0.95694	0.0:0.0:1.0:0.0	.	115;115	Q8IUQ0;Q8IUQ0-2	CLVS1_HUMAN;.	N	115	ENSP00000428402:D115N;ENSP00000325506:D115N	.	D	+	1	0	CLVS1	62375283	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.024000	0.88770	2.644000	0.89710	0.655000	0.94253	GAT		0.507	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		5	51	0	0	0	0.000602	0	5	51				
CA3	761	broad.mit.edu	37	8	86356314	86356314	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:86356314A>G	ENST00000285381.2	+	4	486	c.403A>G	c.(403-405)Aag>Gag	p.K135E	RP11-317J10.2_ENST00000521761.1_RNA|RP11-317J10.2_ENST00000517697.1_RNA	NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	135					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|response to ethanol (GO:0045471)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	carbonate dehydratase activity (GO:0004089)|nickel cation binding (GO:0016151)|zinc ion binding (GO:0008270)	p.K135E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23					Acetazolamide(DB00819)|Zonisamide(DB00909)	AGAAGCCCTGAAGCAGCGCGA	0.378																																							uc003ydj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(403-405)AAG>GAG		carbonic anhydrase III							74.0	73.0	73.0					8																	86356314		2203	4300	6503	SO:0001583	missense	761				one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding	g.chr8:86356314A>G	AJ006473	CCDS6238.1	8q21.2	2012-10-02					4.2.1.1	"""Carbonic anhydrases"""	1374	protein-coding gene	gene with protein product		114750				6221502	Standard	NM_005181		Approved	Car3, CAIII	uc003ydj.3	P07451		ENST00000285381.2:c.403A>G	8.37:g.86356314A>G	ENSP00000285381:p.Lys135Glu					CA3_uc011lfv.1_RNA	p.K135E	NM_005181	NP_005172	P07451	CAH3_HUMAN			4	486	+			135					B2R867|B3KUC8|O60842	Missense_Mutation	SNP	ENST00000285381.2	37	c.403A>G	CCDS6238.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.285322	0.40394	.	.	ENSG00000164879	ENST00000285381;ENST00000426378	T	0.67171	-0.25	6.17	6.17	0.99709	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.202165	0.64402	D	0.000010	T	0.62696	0.2449	L	0.53617	1.68	0.35654	D	0.812043	B	0.18013	0.025	B	0.22386	0.039	T	0.64076	-0.6492	10	0.17369	T	0.5	-22.3316	16.0034	0.80327	1.0:0.0:0.0:0.0	.	135	P07451	CAH3_HUMAN	E	135;119	ENSP00000285381:K135E	ENSP00000285381:K135E	K	+	1	0	CA3	86543566	0.988000	0.35896	1.000000	0.80357	0.979000	0.70002	4.243000	0.58721	2.371000	0.80710	0.533000	0.62120	AAG		0.378	CA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381090.1	NM_005181		19	58	0	0	0	0.008871	0	19	58				
RGS22	26166	broad.mit.edu	37	8	100994191	100994191	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:100994191C>T	ENST00000360863.6	-	22	3528	c.3334G>A	c.(3334-3336)Gga>Aga	p.G1112R	RGS22_ENST00000523437.1_Missense_Mutation_p.G1100R|RGS22_ENST00000523287.1_Missense_Mutation_p.G931R	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1112	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.G1112R(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACATATGGTCCTAACTCCTTC	0.358																																							uc003yjb.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3334-3336)GGA>AGA		regulator of G-protein signaling 22							224.0	219.0	221.0					8																	100994191		1906	4129	6035	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100994191C>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3334G>A	8.37:g.100994191C>T	ENSP00000354109:p.Gly1112Arg					RGS22_uc003yja.1_Missense_Mutation_p.G931R|RGS22_uc003yjc.1_Missense_Mutation_p.G1100R	p.G1112R	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		22	3529	-			1112			RGS 2.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.3334G>A	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.427354	0.83667	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.01887	4.58;4.58;4.58	5.0	5.0	0.66597	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.10809	0.0264	L	0.55834	1.745	0.47905	D	0.999544	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.01334	-1.1382	10	0.87932	D	0	.	18.3276	0.90259	0.0:1.0:0.0:0.0	.	1100;1112;931	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	R	1112;1099;931;1100	ENSP00000354109:G1112R;ENSP00000429382:G931R;ENSP00000428212:G1100R	ENSP00000354109:G1112R	G	-	1	0	RGS22	101063367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.270000	0.78493	2.303000	0.77524	0.585000	0.79938	GGA		0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		28	289	0	0	0	0.008361	0	28	289				
RIMS2	9699	broad.mit.edu	37	8	104955058	104955058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:104955058C>T	ENST00000436393.2	+	12	2180	c.1939C>T	c.(1939-1941)Cag>Tag	p.Q647*	RIMS2_ENST00000406091.3_Nonsense_Mutation_p.Q869*|RIMS2_ENST00000262231.10_Nonsense_Mutation_p.Q708*|RIMS2_ENST00000507740.1_Nonsense_Mutation_p.Q661*			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	931					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)	p.Q661*(2)|p.Q936*(1)|p.Q647*(1)|p.Q869*(1)		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)			GTACAAACTTCAGACGCATGA	0.413										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Nonsense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1939-1941)CAG>TAG		regulating synaptic membrane exocytosis 2							80.0	75.0	76.0					8																	104955058		1892	4117	6009	SO:0001587	stop_gained	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104955058C>T	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.1939C>T	8.37:g.104955058C>T	ENSP00000390665:p.Gln647*	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Nonsense_Mutation_p.Q869*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.Q661*|RIMS2_uc003ylq.2_Nonsense_Mutation_p.Q661*|RIMS2_uc003ylr.2_Nonsense_Mutation_p.Q708*|RIMS2_uc003ylt.2_Nonsense_Mutation_p.Q254*	p.Q647*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		12	2180	+			931					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Nonsense_Mutation	SNP	ENST00000436393.2	37	c.1939C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.606651	0.97701	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0411	0.92999	0.0:1.0:0.0:0.0	.	.	.	.	X	869;884;869;931;661;708;661;661;647	.	ENSP00000262231:Q708X	Q	+	1	0	RIMS2	105024234	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.729000	0.84864	2.552000	0.86080	0.591000	0.81541	CAG		0.413	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		4	51	0	0	0	0.000602	0	4	51				
CSMD3	114788	broad.mit.edu	37	8	113484921	113484921	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:113484921C>G	ENST00000297405.5	-	32	5538	c.5294G>C	c.(5293-5295)cGt>cCt	p.R1765P	CSMD3_ENST00000343508.3_Missense_Mutation_p.R1725P|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1765P|AC024996.1_ENST00000582664.1_RNA|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1661P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1765	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1765P(1)|p.R1725P(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						ACCTGTTGAACGACTTCCACA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	2	Substitution - Missense(2)		lung(2)	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.(5293-5295)CGT>CCT		CUB and Sushi multiple domains 3 isoform 1							94.0	90.0	92.0					8																	113484921		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113484921C>G	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.5294G>C	8.37:g.113484921C>G	ENSP00000297405:p.Arg1765Pro	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R1037P|CSMD3_uc003ynt.2_Missense_Mutation_p.R1725P|CSMD3_uc011lhx.1_Missense_Mutation_p.R1661P	p.R1765P	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			32	5453	-			1765			Extracellular (Potential).|CUB 10.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.5294G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680413	0.68042	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.07	5.07	0.68467	CUB (5);	0.142146	0.48286	D	0.000183	T	0.30103	0.0754	L	0.32530	0.975	0.46927	D	0.999251	P;D;P	0.62365	0.922;0.991;0.942	P;D;P	0.64144	0.805;0.922;0.68	T	0.01334	-1.1382	10	0.05833	T	0.94	.	18.2401	0.89965	0.0:1.0:0.0:0.0	.	1661;1765;1725	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	P	1725;1765;1105;1661;1765	ENSP00000345799:R1725P;ENSP00000297405:R1765P;ENSP00000341558:R1105P;ENSP00000412263:R1661P;ENSP00000343124:R1765P	ENSP00000297405:R1765P	R	-	2	0	CSMD3	113554097	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.665000	0.54532	2.630000	0.89119	0.591000	0.81541	CGT		0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	59	0	0	0	0.001855	0	12	59				
ADCY8	114	broad.mit.edu	37	8	132002737	132002737	+	Missense_Mutation	SNP	T	T	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:132002737T>A	ENST00000286355.5	-	2	3104	c.1012A>T	c.(1012-1014)Atc>Ttc	p.I338F	ADCY8_ENST00000377928.3_Missense_Mutation_p.I338F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	338					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)	p.I338F(1)		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)			AGGTAACTGATGAAGATTCCA	0.512										HNSCC(32;0.087)																													uc003ytd.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1012-1014)ATC>TTC		adenylate cyclase 8							130.0	137.0	135.0					8																	132002737		2203	4300	6503	SO:0001583	missense	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.chr8:132002737T>A	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.1012A>T	8.37:g.132002737T>A	ENSP00000286355:p.Ile338Phe	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.I338F	p.I338F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	1268	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		338			Helical; (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1012A>T	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.025322	0.93518	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78595	-1.19;-1.18	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	L	0.38175	1.15	0.51233	D	0.999914	D;P	0.65815	0.995;0.91	P;B	0.53185	0.72;0.328	T	0.71122	-0.4684	10	0.09843	T	0.71	.	15.1153	0.72397	0.0:0.0:0.0:1.0	.	338;338	E7EVL1;P40145	.;ADCY8_HUMAN	F	338	ENSP00000286355:I338F;ENSP00000367161:I338F	ENSP00000286355:I338F	I	-	1	0	ADCY8	132071919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.980000	0.88113	2.221000	0.72209	0.528000	0.53228	ATC		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			14	151	0	0	0	0.004007	0	14	151				
GPAA1	8733	broad.mit.edu	37	8	145140004	145140004	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr8:145140004G>A	ENST00000355091.4	+	9	1344	c.1223G>A	c.(1222-1224)gGt>gAt	p.G408D	GPAA1_ENST00000361036.6_Missense_Mutation_p.G348D	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	408					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.G408D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGCCCGGGGGTGCCCCTGGC	0.592																																							uc003zax.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1222-1224)GGT>GAT		glycosylphosphatidylinositol anchor attachment							33.0	37.0	36.0					8																	145140004		1932	4131	6063	SO:0001583	missense	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145140004G>A	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.1223G>A	8.37:g.145140004G>A	ENSP00000347206:p.Gly408Asp						p.G408D	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		9	1333	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		408			Cytoplasmic (Potential).		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	c.1223G>A	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	7.466	0.645697	0.14451	.	.	ENSG00000197858	ENST00000355091;ENST00000361036	.	.	.	5.25	-2.95	0.05564	.	0.417764	0.25628	N	0.029370	T	0.15089	0.0364	L	0.28344	0.845	0.09310	N	1	B	0.18610	0.029	B	0.21917	0.037	T	0.15350	-1.0440	9	0.11794	T	0.64	-4.0964	1.0213	0.01518	0.3485:0.2706:0.2427:0.1382	.	408	O43292	GPAA1_HUMAN	D	408;348	.	ENSP00000347206:G408D	G	+	2	0	GPAA1	145211992	.	.	0.000000	0.03702	0.011000	0.07611	.	.	-0.212000	0.10109	-0.150000	0.13652	GGT		0.592	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		4	26	0	0	0	0.000602	0	4	26				
SLC24A2	25769	broad.mit.edu	37	9	19520910	19520910	+	Missense_Mutation	SNP	A	A	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr9:19520910A>G	ENST00000341998.2	-	9	1779	c.1718T>C	c.(1717-1719)aTt>aCt	p.I573T	SLC24A2_ENST00000286344.3_Missense_Mutation_p.I556T	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	573					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)	p.I573T(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GATGTCAAAAATGTTGCTTCC	0.507																																							uc003zoa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1717-1719)ATT>ACT		solute carrier family 24							140.0	126.0	131.0					9																	19520910		2203	4300	6503	SO:0001583	missense	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19520910A>G	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1718T>C	9.37:g.19520910A>G	ENSP00000344801:p.Ile573Thr					SLC24A2_uc003zob.1_Missense_Mutation_p.I556T	p.I573T	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	9	1780	-			573			Helical; (Potential).		B7ZLL8|Q9NTN5|Q9NZQ4	Missense_Mutation	SNP	ENST00000341998.2	37	c.1718T>C	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.170470	0.78452	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	T;T	0.66638	-0.22;-0.22	5.2	5.2	0.72013	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.81408	0.4816	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.80764	0.994;0.972	T	0.82721	-0.0317	9	.	.	.	.	15.2382	0.73447	1.0:0.0:0.0:0.0	.	556;573	Q9UI40-2;Q9UI40	.;NCKX2_HUMAN	T	573;556	ENSP00000344801:I573T;ENSP00000286344:I556T	.	I	-	2	0	SLC24A2	19510910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.096000	0.94182	2.194000	0.70268	0.533000	0.62120	ATT		0.507	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	NM_020344		10	100	0	0	0	0.010729	0	10	100				
CTSL3P	392360	broad.mit.edu	37	9	90387899	90387899	+	RNA	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr9:90387899G>A	ENST00000354530.2	+	0	70					NR_027917.1		Q5NE16	CATL3_HUMAN	cathepsin L family member 3, pseudogene								cysteine-type peptidase activity (GO:0008234)	p.A24T(1)									GGCCATGAACGCCTTTGGAGA	0.453																																							uc004apm.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)GCC>ACC		RecName: Full=Putative cathepsin L-like protein 3;          Short=Cathepsin L-like protein; AltName: Full=HCTSL-s;							133.0	125.0	128.0					9																	90387899		2203	4300	6503			392360							g.chr9:90387899G>A	AJ851862		9q21.33	2013-01-07	2013-01-07	2013-01-07	ENSG00000188029	ENSG00000188029		"""Cathepsins"""	33132	pseudogene	pseudogene			"""cathepsin L family member 3"""	CTSL3		19663681	Standard	NR_027917		Approved	HCTSL-s	uc004apm.1	Q5NE16	OTTHUMG00000020152		9.37:g.90387899G>A							p.A22T	NR_027917						1	70	+									Missense_Mutation	SNP	ENST00000354530.2	37	c.64G>A																																																																																					0.453	CTSL3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000356542.1	NR_027917		6	54	0	0	0	0.001984	0	6	54				
NUTM2F	54754	broad.mit.edu	37	9	97082700	97082700	+	Silent	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr9:97082700G>T	ENST00000253262.4	-	5	1178	c.1158C>A	c.(1156-1158)gtC>gtA	p.V386V	NUTM2F_ENST00000341207.4_Silent_p.V371V|NUTM2F_ENST00000335456.7_Silent_p.V371V	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	386	Pro-rich.							p.V386V(2)|p.V252V(2)									TCTCCTCAGGGACCTTGGTCT	0.667																																							uc004aup.1		NA																	4	Substitution - coding silent(4)		urinary_tract(2)|lung(2)		0						c.(1156-1158)GTC>GTA		hypothetical protein LOC54754							48.0	59.0	56.0					9																	97082700		1967	4132	6099	SO:0001819	synonymous_variant	54754							g.chr9:97082700G>T		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.1158C>A	9.37:g.97082700G>T							p.V386V	NM_017561	NP_060031	A1L443	FA22F_HUMAN			5	1179	-		Acute lymphoblastic leukemia(62;0.136)	386			Pro-rich.		B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Silent	SNP	ENST00000253262.4	37	c.1158C>A	CCDS47994.1																																																																																				0.667	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		14	50	1	0	3.27435e-08	0.00245	4.15931e-08	14	50				
CCDC180	100499483	broad.mit.edu	37	9	100092805	100092805	+	Missense_Mutation	SNP	C	C	T	rs544662477		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr9:100092805C>T	ENST00000357054.1	+	32	3514	c.2579C>T	c.(2578-2580)cCa>cTa	p.P860L	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.P721L|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.P721L|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.P718L			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	860	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P721L(1)|p.P860L(1)									AAAAAATCTCCACTGCATGCT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		20910	0.001		0.0	False		,,,				2504	0.0						uc011lut.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(1)	7						c.(2578-2580)CCA>CTA		hypothetical protein LOC57653							80.0	76.0	77.0					9																	100092805		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100092805C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2579C>T	9.37:g.100092805C>T	ENSP00000349562:p.Pro860Leu					KIAA1529_uc004axe.1_Missense_Mutation_p.P860L|KIAA1529_uc004axg.1_Missense_Mutation_p.P721L|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.P45L|KIAA1529_uc011lus.1_Missense_Mutation_p.P678L|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.P721L|KIAA1529_uc011luv.1_Missense_Mutation_p.P718L	p.P860L	NM_020893	NP_065944					30	3352	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.2579C>T		.	.	.	.	.	.	.	.	.	.	C	9.301	1.052977	0.19907	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T	0.12147	3.08;3.04;2.71;3.04	4.03	-3.75	0.04372	.	2.432470	0.01624	N	0.023171	T	0.08802	0.0218	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.22941	-1.0202	10	0.32370	T	0.25	2.3845	1.3186	0.02112	0.1447:0.2985:0.1449:0.4119	.	744;718;860;721;860	Q86Y65;F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;.;CI174_HUMAN	L	860;721;718;744;721	ENSP00000349562:P860L;ENSP00000364348:P721L;ENSP00000414000:P718L;ENSP00000434727:P721L	ENSP00000349562:P860L	P	+	2	0	C9orf174	99132626	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-1.095000	0.03356	-0.738000	0.04817	0.555000	0.69702	CCA		0.463	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		5	48	0	0	0	0.001984	0	5	48				
SVEP1	79987	broad.mit.edu	37	9	113198749	113198749	+	Missense_Mutation	SNP	T	T	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr9:113198749T>G	ENST00000401783.2	-	28	5011	c.4675A>C	c.(4675-4677)Aaa>Caa	p.K1559Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.K1536Q	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1559	Pentaxin.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.K1562Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCCTTTTTTGTCTTGCTCT	0.483																																							uc010mtz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(4675-4677)AAA>CAA		polydom							85.0	83.0	83.0					9																	113198749		1873	4106	5979	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113198749T>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.4675A>C	9.37:g.113198749T>G	ENSP00000384917:p.Lys1559Gln						p.K1559Q	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			28	5012	-			1559			Pentaxin.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.4675A>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.525027	0.27299	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.06449	3.3;3.3	6.03	-0.753	0.11068	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.204155	0.51477	N	0.000083	T	0.03136	0.0092	N	0.05534	-0.03	0.80722	D	1	B	0.13145	0.007	B	0.12837	0.008	T	0.47886	-0.9082	10	0.11794	T	0.64	.	14.3433	0.66643	0.0:0.0625:0.6774:0.2601	.	1559	Q4LDE5	SVEP1_HUMAN	Q	1559;1536	ENSP00000384917:K1559Q;ENSP00000363593:K1536Q	ENSP00000363593:K1536Q	K	-	1	0	SVEP1	112238570	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	1.159000	0.31749	-0.357000	0.08175	-0.291000	0.09656	AAA		0.483	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				9	39	0	0	0	0.004482	0	9	39				
TMEM8C	389827	broad.mit.edu	37	9	136380688	136380688	+	Missense_Mutation	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr9:136380688C>G	ENST00000339996.3	-	4	542	c.441G>C	c.(439-441)aaG>aaC	p.K147N	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	147					muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|plasma membrane fusion (GO:0045026)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.K147N(1)		NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						TGTAGACGCTCTTGTCTGGGT	0.597																																							uc011mdk.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(439-441)AAG>AAC		transmembrane protein 8C							163.0	154.0	157.0					9																	136380688		2203	4300	6503	SO:0001583	missense	389827					integral to membrane		g.chr9:136380688C>G	BX324209	CCDS35170.1	9q34.2	2009-06-19		2009-06-19	ENSG00000187616	ENSG00000187616			33778	protein-coding gene	gene with protein product	"""transmembrane protein 226"""	615345					Standard	NM_001080483		Approved	TMEM226	uc011mdk.2	A6NI61	OTTHUMG00000131685	ENST00000339996.3:c.441G>C	9.37:g.136380688C>G	ENSP00000419712:p.Lys147Asn						p.K147N	NM_001080483	NP_001073952	A6NI61	TMM8C_HUMAN			4	441	-			147						Missense_Mutation	SNP	ENST00000339996.3	37	c.441G>C	CCDS35170.1	.	.	.	.	.	.	.	.	.	.	c	15.33	2.802504	0.50315	.	.	ENSG00000187616	ENST00000339996	T	0.46063	0.88	4.56	4.56	0.56223	.	0.236312	0.41605	D	0.000846	T	0.36082	0.0954	L	0.51422	1.61	0.46437	D	0.999046	P	0.34587	0.458	B	0.37198	0.243	T	0.11131	-1.0600	10	0.22109	T	0.4	-15.0537	9.7247	0.40324	0.0:0.9025:0.0:0.0975	.	147	A6NI61	TMM8C_HUMAN	N	147	ENSP00000419712:K147N	ENSP00000419712:K147N	K	-	3	2	TMEM8C	135370509	1.000000	0.71417	0.999000	0.59377	0.731000	0.41821	2.794000	0.47853	2.088000	0.63022	0.313000	0.20887	AAG		0.597	TMEM8C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356200.2	NM_001080483		4	41	0	0	0	0.001984	0	4	41				
CACNA1B	774	broad.mit.edu	37	9	140880937	140880937	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr9:140880937C>A	ENST00000371372.1	+	14	1987	c.1842C>A	c.(1840-1842)ttC>ttA	p.F614L	CACNA1B_ENST00000371363.1_Missense_Mutation_p.F614L|CACNA1B_ENST00000277549.5_De_novo_Start_InFrame|CACNA1B_ENST00000371355.4_Missense_Mutation_p.F615L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.F615L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.F614L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	614					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.F614L(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCTGCTCTTCTTGCTCTTCC	0.622																																							uc004cog.2		NA																	2	Substitution - Missense(2)		lung(1)|breast(1)	breast(3)|large_intestine(2)|ovary(1)	6						c.(1840-1842)TTC>TTA		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						71.0	77.0	75.0					9																	140880937		2129	4256	6385	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140880937C>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1842C>A	9.37:g.140880937C>A	ENSP00000360423:p.Phe614Leu					CACNA1B_uc011mfd.1_Missense_Mutation_p.F145L	p.F614L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	14	1987	+	all_cancers(76;0.166)		614			Helical; Name=S5 of repeat II; (Potential).|II.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.1842C>A	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.578643	0.46006	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49	4.35	3.45	0.39498	.	0.000000	0.85682	D	0.000000	D	0.96738	0.8935	L	0.33137	0.985	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79108	0.992;0.992	D	0.93885	0.7174	10	0.10902	T	0.67	.	10.64	0.45588	0.0:0.8361:0.0:0.1639	.	614;614	B1AQK4;B1AQK6	.;.	L	614;614;614;615;615	ENSP00000360423:F614L;ENSP00000277551:F614L;ENSP00000360414:F614L;ENSP00000360408:F615L;ENSP00000360406:F615L	ENSP00000277551:F614L	F	+	3	2	CACNA1B	140000758	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.458000	0.45014	0.925000	0.37094	0.462000	0.41574	TTC		0.622	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		4	21	1	0	1.23904e-05	0.000602	1.43987e-05	4	21				
PIR	8544	broad.mit.edu	37	X	15425673	15425673	+	Splice_Site	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:15425673C>A	ENST00000380421.3	-	7	1026		c.e7-1		PIR_ENST00000380420.5_Splice_Site	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)						monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)	p.?(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					CTTGTCCACCCTGGAAAGGAC	0.358																																					Ovarian(180;1587 2015 10555 34192 51653)	Ovarian(180;1587 2015 10555 34192 51653)	uc004cwu.2		NA																	1	Unknown(1)		lung(1)	ovary(1)	1						c.e7-1		pirin							193.0	153.0	166.0					X																	15425673		2203	4300	6503	SO:0001630	splice_region_variant	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15425673C>A	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.566-1G>T	X.37:g.15425673C>A						PIR_uc004cwv.2_Splice_Site_p.G189_splice	p.G189_splice	NM_003662	NP_003653	O00625	PIR_HUMAN			7	804	-	Hepatocellular(33;0.183)							Q5U0G0|Q6FHD2	Splice_Site	SNP	ENST00000380421.3	37	c.566_splice	CCDS14167.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198369	0.38806	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5243	0.67875	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIR	15335594	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	3.944000	0.56629	2.508000	0.84585	0.600000	0.82982	.		0.358	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662	Intron	16	187	1	0	1.15088e-07	0.004007	1.44457e-07	16	187				
ACE2	59272	broad.mit.edu	37	X	15584413	15584413	+	Missense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:15584413C>T	ENST00000252519.3	-	16	2179	c.2077G>A	c.(2077-2079)Gat>Aat	p.D693N	ACE2_ENST00000471548.1_5'Flank|ACE2_ENST00000427411.1_Missense_Mutation_p.D693N			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	693					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.D693N(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GGAATGATATCAGACACATTT	0.383																																							uc004cxa.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2077-2079)GAT>AAT		angiotensin I converting enzyme 2 precursor	Moexipril(DB00691)						182.0	170.0	174.0					X																	15584413		2203	4300	6503	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15584413C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.2077G>A	X.37:g.15584413C>T	ENSP00000252519:p.Asp693Asn					ACE2_uc004cxb.2_Missense_Mutation_p.D693N	p.D693N	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN			16	2245	-	Hepatocellular(33;0.183)		693			Extracellular (Potential).		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.2077G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.891444	0.33442	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	D;D	0.84873	-1.91;-1.91	5.29	0.0249	0.14143	.	1.197440	0.05456	N	0.550366	T	0.81777	0.4894	M	0.71296	2.17	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.64529	-0.6386	10	0.59425	D	0.04	-3.023	2.1914	0.03900	0.2563:0.4555:0.1242:0.1641	.	693	Q9BYF1	ACE2_HUMAN	N	693	ENSP00000252519:D693N;ENSP00000389326:D693N	ENSP00000252519:D693N	D	-	1	0	ACE2	15494334	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.123000	0.10611	0.087000	0.17167	0.600000	0.82982	GAT		0.383	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			27	210	0	0	0	0.004656	0	27	210				
SAT1	6303	broad.mit.edu	37	X	23803931	23803931	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:23803931G>A	ENST00000379270.4	+	6	653	c.474G>A	c.(472-474)aaG>aaA	p.K158K	SAT1_ENST00000489394.1_3'UTR|RP13-314C10.5_ENST00000366134.2_RNA|SAT1_ENST00000379254.1_Silent_p.K130K	NM_002970.2	NP_002961.1	Q9H2B4	S26A1_HUMAN	spermidine/spermine N1-acetyltransferase 1	0					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.K158K(1)		breast(1)|endometrium(3)|kidney(3)|lung(3)	10						GACTGTTCAAGATCGACAAGG	0.423																																							uc004dau.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(472-474)AAG>AAA		diamine N-acetyltransferase 1	Spermine(DB00127)						78.0	67.0	71.0					X																	23803931		2203	4300	6503	SO:0001819	synonymous_variant	6303				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding	g.chrX:23803931G>A	M55580	CCDS14207.1	Xp22.1	2011-11-16	2006-08-24	2006-08-24	ENSG00000130066	ENSG00000130066	2.3.1.57		10540	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 1"""	313020	"""spermidine/spermine N1-acetyltransferase"""	SAT		1985966, 1417826	Standard	NM_002970		Approved	SSAT	uc004dau.3	P21673	OTTHUMG00000021256	ENST00000379270.4:c.474G>A	X.37:g.23803931G>A						SAT1_uc004dav.2_RNA	p.K158K	NM_002970	NP_002961	P21673	SAT1_HUMAN			6	668	+			158			N-acetyltransferase.		A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000379270.4	37	c.474G>A	CCDS14207.1																																																																																				0.423	SAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056056.1	NM_002970		7	75	0	0	0	0.00308	0	7	75				
SSX7	280658	broad.mit.edu	37	X	52682477	52682477	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:52682477G>C	ENST00000298181.5	-	2	204	c.46C>G	c.(46-48)Caa>Gaa	p.Q16E		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.Q16E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TCTGGTATTTGAGCACCAGCC	0.567																																							uc004dqx.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(46-48)CAA>GAA		synovial sarcoma, X breakpoint 7							321.0	260.0	281.0					X																	52682477		2203	4300	6503	SO:0001583	missense	280658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chrX:52682477G>C	BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.46C>G	X.37:g.52682477G>C	ENSP00000298181:p.Gln16Glu						p.Q16E	NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN			2	205	-	Ovarian(276;0.236)		16						Missense_Mutation	SNP	ENST00000298181.5	37	c.46C>G	CCDS14343.1	.	.	.	.	.	.	.	.	.	.	N	4.464	0.086019	0.08583	.	.	ENSG00000187754	ENST00000298181	T	0.08370	3.1	0.56	-1.12	0.09808	Krueppel-associated box (1);	1.840820	0.02711	N	0.112897	T	0.12220	0.0297	M	0.77616	2.38	0.09310	N	1	B	0.30281	0.275	B	0.35114	0.196	T	0.36939	-0.9727	9	0.10636	T	0.68	.	.	.	.	.	16	Q7RTT5	SSX7_HUMAN	E	16	ENSP00000298181:Q16E	ENSP00000298181:Q16E	Q	-	1	0	SSX7	52699202	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-0.137000	0.10389	-0.634000	0.05538	0.174000	0.16983	CAA		0.567	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056671.1	NM_173358		17	256	0	0	0	0.012319	0	17	256				
XAGE3	170626	broad.mit.edu	37	X	52893844	52893844	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:52893844C>T	ENST00000346279.3	-	4	343	c.273G>A	c.(271-273)aaG>aaA	p.K91K	XAGE3_ENST00000375491.3_Silent_p.K91K	NM_133179.2	NP_573440.1	Q8WTP9	XAGE3_HUMAN	X antigen family, member 3	91										kidney(1)|large_intestine(1)|lung(2)	4						TTGGCAGAATCTTCCCCTGGT	0.393																																							uc004dre.2		NA																	0					0						c.(271-273)AAG>AAA		XAGE-3 protein							93.0	82.0	86.0					X																	52893844		2203	4300	6503	SO:0001819	synonymous_variant	170626							g.chrX:52893844C>T	BG354572	CCDS14347.1	Xp11.22	2010-09-27	2004-06-07	2005-01-27	ENSG00000171402	ENSG00000171402			14618	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 3a"", ""cancer/testis antigen family 12, member 3b"""	300740	"""placenta-specific 6; G antigen, family D, 4"""	PLAC6, GAGED4			Standard	NM_133179		Approved	XAGE-3, pp9012, CT12.3a, CT12.3b	uc004dre.3	Q8WTP9	OTTHUMG00000021587	ENST00000346279.3:c.273G>A	X.37:g.52893844C>T						XAGE3_uc004drf.2_Silent_p.K91K	p.K91K	NM_130776	NP_570132	Q8WTP9	GAGD4_HUMAN			4	333	-			91					Q5JS82|Q8WYS9	Silent	SNP	ENST00000346279.3	37	c.273G>A	CCDS14347.1																																																																																				0.393	XAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056686.1	NM_133179		7	124	0	0	0	0.001984	0	7	124				
FGD1	2245	broad.mit.edu	37	X	54482954	54482954	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:54482954G>A	ENST00000375135.3	-	9	2416	c.1683C>T	c.(1681-1683)gcC>gcT	p.A561A		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	561	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TTTTGCGGATGGCAGCATTCG	0.597																																							uc004dtg.2		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1681-1683)GCC>GCT		faciogenital dysplasia protein							62.0	48.0	53.0					X																	54482954		2203	4300	6503	SO:0001819	synonymous_variant	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54482954G>A	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1683C>T	X.37:g.54482954G>A						FGD1_uc011moi.1_Silent_p.A319A	p.A561A	NM_004463	NP_004454	P98174	FGD1_HUMAN			9	2417	-			561			DH.		Q5H999|Q8N4D9	Silent	SNP	ENST00000375135.3	37	c.1683C>T	CCDS14359.1																																																																																				0.597	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		3	30	0	0	0	0.004672	0	3	30				
TRO	7216	broad.mit.edu	37	X	54949608	54949608	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:54949608G>T	ENST00000173898.7	+	3	755	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.A215S|TRO_ENST00000375041.2_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000375022.4_Missense_Mutation_p.A215S	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	215					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)		p.A215S(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCAAATAAGGCCATAGCTAG	0.507																																							uc004dtq.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(643-645)GCC>TCC		trophinin isoform 5							46.0	48.0	47.0					X																	54949608		2100	4201	6301	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54949608G>T	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.643G>T	X.37:g.54949608G>T	ENSP00000173898:p.Ala215Ser					TRO_uc011moj.1_Missense_Mutation_p.A158S|TRO_uc004dts.2_Missense_Mutation_p.A215S|TRO_uc004dtr.2_Missense_Mutation_p.A215S|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.A215S	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			3	750	+			215					B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.643G>T	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	1.179	-0.638576	0.03557	.	.	ENSG00000067445	ENST00000411534;ENST00000430420;ENST00000173898;ENST00000319167;ENST00000375022	T;T;T;T;T	0.52057	0.71;0.68;0.98;3.67;3.67	3.13	1.33	0.21861	.	.	.	.	.	T	0.22475	0.0542	N	0.14661	0.345	0.09310	N	1	B;B	0.34103	0.437;0.437	B;B	0.29077	0.098;0.098	T	0.14727	-1.0462	9	0.14656	T	0.56	.	4.7175	0.12903	0.3099:0.0:0.6901:0.0	.	215;215	Q96SX2;Q12816	.;TROP_HUMAN	S	171;171;215;215;215	ENSP00000388947:A171S;ENSP00000411717:A171S;ENSP00000173898:A215S;ENSP00000318278:A215S;ENSP00000364162:A215S	ENSP00000173898:A215S	A	+	1	0	TRO	54966333	0.444000	0.25649	0.008000	0.14137	0.010000	0.07245	0.190000	0.17057	0.207000	0.20607	0.506000	0.49869	GCC		0.507	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		4	20	1	0	0.00024832	0.009096	0.000276419	4	20				
ALAS2	212	broad.mit.edu	37	X	55043989	55043989	+	Silent	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:55043989C>T	ENST00000330807.5	-	7	1070	c.933G>A	c.(931-933)aaG>aaA	p.K311K	ALAS2_ENST00000396198.3_Silent_p.K298K|ALAS2_ENST00000498636.1_5'UTR|ALAS2_ENST00000335854.4_Silent_p.K274K	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	311					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CTAGAAGTTTCTTTAGGTGGT	0.443																																							uc004dua.3		NA																	0				ovary(1)	1						c.(931-933)AAG>AAA		5-aminolevulinate synthase 2 isoform a	Glycine(DB00145)						224.0	185.0	198.0					X																	55043989		2203	4300	6503	SO:0001819	synonymous_variant	212				cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chrX:55043989C>T		CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.933G>A	X.37:g.55043989C>T						ALAS2_uc004dub.3_Silent_p.K298K|ALAS2_uc004dud.3_Silent_p.K274K	p.K311K	NM_000032	NP_000023	P22557	HEM0_HUMAN			7	1071	-			311					A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Silent	SNP	ENST00000330807.5	37	c.933G>A	CCDS14366.1																																																																																				0.443	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056843.3	NM_000032		9	158	0	0	0	0.00245	0	9	158				
TAF1	6872	broad.mit.edu	37	X	70598761	70598761	+	Missense_Mutation	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:70598761G>A	ENST00000373790.4	+	8	1288	c.1237G>A	c.(1237-1239)Gat>Aat	p.D413N	TAF1_ENST00000449580.1_Missense_Mutation_p.D413N|TAF1_ENST00000423759.1_Missense_Mutation_p.D434N|TAF1_ENST00000276072.3_Missense_Mutation_p.D434N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	413	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.D434N(1)|p.D413N(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTGGGAGGATGATATCATCTG	0.478																																							uc004dzu.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(1237-1239)GAT>AAT		TBP-associated factor 1 isoform 2							247.0	192.0	210.0					X																	70598761		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70598761G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1237G>A	X.37:g.70598761G>A	ENSP00000362895:p.Asp413Asn					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.D434N	p.D413N	NM_138923	NP_620278	P21675	TAF1_HUMAN			8	1288	+	Renal(35;0.156)	all_lung(315;0.000321)	413			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1237G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	22.4	4.279781	0.80692	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.20069	2.1;2.18;2.19;2.14	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.41026	0.1141	M	0.71581	2.175	0.80722	D	1	B;B	0.33512	0.292;0.415	B;P	0.46172	0.309;0.506	T	0.14727	-1.0462	10	0.52906	T	0.07	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	413;434	P21675;P21675-2	TAF1_HUMAN;.	N	413;413;434;434	ENSP00000362895:D413N;ENSP00000389000:D413N;ENSP00000406549:D434N;ENSP00000276072:D434N	ENSP00000276072:D434N	D	+	1	0	TAF1	70515486	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.591000	0.82666	2.494000	0.84150	0.506000	0.49869	GAT		0.478	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		14	186	0	0	0	0.003163	0	14	186				
ACRC	93953	broad.mit.edu	37	X	70823695	70823695	+	Missense_Mutation	SNP	G	G	A	rs377418953		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:70823695G>A	ENST00000373695.1	+	7	1105	c.568G>A	c.(568-570)Gac>Aac	p.D190N	ACRC_ENST00000373696.3_Missense_Mutation_p.D190N			Q96QF7	ACRC_HUMAN	acidic repeat containing	190	Asp/Ser-rich.					nucleus (GO:0005634)		p.D190N(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGATGTTCCCGACGACAACAG	0.498																																							uc004eae.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(568-570)GAC>AAC		ACRC protein		G	ASN/ASP	0,3835		0,0,0,1632,571	309.0	249.0	270.0		568	-0.3	0.0	X		270	2,6726		0,1,1,2427,1871	no	missense	ACRC	NM_052957.4	23	0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189	benign	190/692	70823695	2,10561	2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70823695G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.568G>A	X.37:g.70823695G>A	ENSP00000362799:p.Asp190Asn					BCYRN1_uc011mpt.1_Intron	p.D190N	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			8	1069	+	Renal(35;0.156)		190			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.568G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	G	2.125	-0.400406	0.04865	0.0	2.97E-4	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.43294	0.95;0.95	0.14	-0.28	0.12886	.	.	.	.	.	T	0.16514	0.0397	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.27739	-1.0065	9	0.07030	T	0.85	.	4.7735	0.13167	0.3324:0.0:0.6676:0.0	.	190	Q96QF7	ACRC_HUMAN	N	190	ENSP00000362800:D190N;ENSP00000362799:D190N	ENSP00000362799:D190N	D	+	1	0	ACRC	70740420	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.431000	0.21444	-1.206000	0.02641	-1.198000	0.01671	GAC		0.498	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			23	233	0	0	0	0.003954	0	23	233				
MAGEE1	57692	broad.mit.edu	37	X	75649049	75649049	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:75649049G>T	ENST00000361470.2	+	1	1004	c.726G>T	c.(724-726)gaG>gaT	p.E242D		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	242	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E242D(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCGCCACTGAGGGCCTAAGCA	0.726																																							uc004ecm.1		NA																	2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(724-726)GAG>GAT		melanoma antigen family E, 1							22.0	22.0	22.0					X																	75649049		2193	4283	6476	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649049G>T	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.726G>T	X.37:g.75649049G>T	ENSP00000354912:p.Glu242Asp						p.E242D	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	933	+			242			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.726G>T	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	6.226	0.409861	0.11812	.	.	ENSG00000198934	ENST00000361470	T	0.15834	2.39	1.97	1.07	0.20283	.	.	.	.	.	T	0.11793	0.0287	L	0.32530	0.975	0.09310	N	1	B	0.23854	0.092	B	0.14023	0.01	T	0.25222	-1.0138	9	0.56958	D	0.05	.	6.0936	0.20008	0.1856:0.0:0.8144:0.0	.	242	Q9HCI5	MAGE1_HUMAN	D	242	ENSP00000354912:E242D	ENSP00000354912:E242D	E	+	3	2	MAGEE1	75565453	0.001000	0.12720	0.048000	0.18961	0.037000	0.13140	0.642000	0.24735	0.266000	0.21894	0.544000	0.68410	GAG		0.726	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		3	17	1	0	0.004672	0.004672	0.00496547	3	17				
P2RY10	27334	broad.mit.edu	37	X	78216425	78216425	+	Silent	SNP	C	C	G			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:78216425C>G	ENST00000171757.2	+	4	688	c.408C>G	c.(406-408)ctC>ctG	p.L136L	P2RY10_ENST00000475374.1_3'UTR|P2RY10_ENST00000544091.1_Silent_p.L136L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L136L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTTTTCTCCTCAAGCCCTTCA	0.517																																							uc004ede.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(406-408)CTC>CTG		G-protein coupled purinergic receptor P2Y10							106.0	98.0	101.0					X																	78216425		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216425C>G	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.408C>G	X.37:g.78216425C>G						P2RY10_uc004edf.2_Silent_p.L136L	p.L136L	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	777	+			136			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.408C>G	CCDS14442.1																																																																																				0.517	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			15	79	0	0	0	0.003163	0	15	79				
DACH2	117154	broad.mit.edu	37	X	85906102	85906102	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:85906102A>T	ENST00000373125.4	+	4	704	c.704A>T	c.(703-705)aAc>aTc	p.N235I	DACH2_ENST00000373131.1_Missense_Mutation_p.N222I|DACH2_ENST00000508860.1_Missense_Mutation_p.N68I|DACH2_ENST00000510272.1_Missense_Mutation_p.N16I	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	235					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.N222I(1)|p.N235I(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATGGCTATGAACACTCTTCAG	0.413																																							uc004eew.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(703-705)AAC>ATC		dachshund 2 isoform a							97.0	76.0	83.0					X																	85906102		2203	4299	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85906102A>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.704A>T	X.37:g.85906102A>T	ENSP00000362217:p.Asn235Ile					DACH2_uc004eex.2_Missense_Mutation_p.N222I|DACH2_uc010nmq.2_Missense_Mutation_p.N101I|DACH2_uc011mra.1_Missense_Mutation_p.N68I|DACH2_uc010nmr.2_Missense_Mutation_p.N16I	p.N235I	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			4	874	+			235					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.704A>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.136877	0.56936	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.84944	-1.91;-1.92	4.45	4.45	0.53987	.	0.000000	0.64402	D	0.000002	D	0.87779	0.6263	L	0.47716	1.5	0.51233	D	0.999917	D;D;P	0.71674	0.998;0.991;0.673	P;D;B	0.64237	0.901;0.923;0.36	D	0.85987	0.1486	10	0.31617	T	0.26	.	13.0694	0.59053	1.0:0.0:0.0:0.0	.	101;222;235	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	I	235;222;235;68;16;68	ENSP00000362223:N222I;ENSP00000362217:N235I	ENSP00000345134:N235I	N	+	2	0	DACH2	85792758	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	6.576000	0.74023	1.452000	0.47756	0.417000	0.27973	AAC		0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		3	30	0	0	0	0.004672	0	3	30				
GPRASP1	9737	broad.mit.edu	37	X	101910606	101910606	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:101910606C>A	ENST00000361600.5	+	5	2566	c.1765C>A	c.(1765-1767)Cag>Aag	p.Q589K	GPRASP1_ENST00000444152.1_Missense_Mutation_p.Q589K|GPRASP1_ENST00000415986.1_Missense_Mutation_p.Q589K|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Missense_Mutation_p.Q589K	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	589	Glu-rich.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.Q589K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGCTGAAAACCAGACCTATAT	0.507																																							uc004ejj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1765-1767)CAG>AAG		G protein-coupled receptor associated sorting							83.0	91.0	88.0					X																	101910606		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101910606C>A	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1765C>A	X.37:g.101910606C>A	ENSP00000355146:p.Gln589Lys					GPRASP1_uc004eji.3_Missense_Mutation_p.Q589K|GPRASP1_uc010nod.2_Missense_Mutation_p.Q589K	p.Q589K	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	2566	+			589			Glu-rich.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.1765C>A	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474920	0.26511	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.09630	2.96;2.96;2.96;2.96	2.55	0.649	0.17806	.	.	.	.	.	T	0.09113	0.0225	L	0.56769	1.78	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.39921	-0.9590	9	0.30854	T	0.27	-0.6383	0.8872	0.01246	0.2576:0.3729:0.2166:0.153	.	589	Q5JY77	GASP1_HUMAN	K	589	ENSP00000393691:Q589K;ENSP00000409420:Q589K;ENSP00000355146:Q589K;ENSP00000445683:Q589K	ENSP00000355146:Q589K	Q	+	1	0	GPRASP1	101797262	0.002000	0.14202	0.000000	0.03702	0.342000	0.28953	0.045000	0.14013	0.057000	0.16193	0.519000	0.50382	CAG		0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		13	116	1	0	1.5842e-08	0.001855	2.04929e-08	13	116				
VSIG1	340547	broad.mit.edu	37	X	107315990	107315990	+	Nonsense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:107315990G>T	ENST00000217957.5	+	4	613	c.496G>T	c.(496-498)Gga>Tga	p.G166*	VSIG1_ENST00000415430.3_Nonsense_Mutation_p.G202*|VSIG1_ENST00000485533.1_3'UTR	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	166	Ig-like C2-type 2.					integral component of membrane (GO:0016021)		p.G202*(2)|p.G166*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CTCTGCGCTTGGAACACCTTC	0.473																																							uc004eno.2		NA																	3	Substitution - Nonsense(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(496-498)GGA>TGA		V-set and immunoglobulin domain containing 1							218.0	168.0	185.0					X																	107315990		2203	4300	6503	SO:0001587	stop_gained	340547					integral to membrane		g.chrX:107315990G>T	BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.496G>T	X.37:g.107315990G>T	ENSP00000217957:p.Gly166*					VSIG1_uc011msk.1_Nonsense_Mutation_p.G202*	p.G166*	NM_182607	NP_872413	Q86XK7	VSIG1_HUMAN			4	657	+			166			Extracellular (Potential).|Ig-like C2-type 2.		C9J4P2|Q6MZS4	Nonsense_Mutation	SNP	ENST00000217957.5	37	c.496G>T	CCDS14535.1	.	.	.	.	.	.	.	.	.	.	G	32	5.156283	0.94686	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3362	0.66592	0.0:0.0:1.0:0.0	.	.	.	.	X	202;166	.	ENSP00000217957:G166X	G	+	1	0	VSIG1	107202646	1.000000	0.71417	0.996000	0.52242	0.210000	0.24377	5.597000	0.67577	2.449000	0.82847	0.600000	0.82982	GGA		0.473	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057858.1	NM_182607		24	178	1	0	2.44723e-14	0.004656	3.40519e-14	24	178				
CXorf56	63932	broad.mit.edu	37	X	118678385	118678385	+	Silent	SNP	T	T	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:118678385T>C	ENST00000371594.4	-	4	432	c.354A>G	c.(352-354)gcA>gcG	p.A118A	CXorf56_ENST00000469448.1_5'Flank|CXorf56_ENST00000536133.1_Silent_p.A104A|CXorf56_ENST00000320339.4_Silent_p.A69A	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	118								p.A118A(1)		cervix(1)|endometrium(2)|lung(7)	10						ACTTGACTACTGCTCCATCCA	0.458																																							uc004erk.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(352-354)GCA>GCG		hypothetical protein LOC63932							121.0	100.0	107.0					X																	118678385		2203	4300	6503	SO:0001819	synonymous_variant	63932						protein binding	g.chrX:118678385T>C	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.354A>G	X.37:g.118678385T>C						CXorf56_uc004erj.1_Silent_p.A69A|CXorf56_uc011mtu.1_Silent_p.A104A	p.A118A	NM_022101	NP_071384	Q9H5V9	CX056_HUMAN			4	400	-			118					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Silent	SNP	ENST00000371594.4	37	c.354A>G	CCDS14579.1																																																																																				0.458	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_022101		13	118	0	0	0	0.003163	0	13	118				
TENM1	10178	broad.mit.edu	37	X	123526198	123526198	+	Splice_Site	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:123526198C>A	ENST00000371130.3	-	27	5434	c.5371G>T	c.(5371-5373)Gcc>Tcc	p.A1791S	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Splice_Site_p.A1798S	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1791					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)	p.A1793S(1)									CTGTTGTGGGCCTATGAGAAA	0.388																																							uc004euj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(5371-5373)GCC>TCC		odz, odd Oz/ten-m homolog 1 isoform 3							112.0	105.0	108.0					X																	123526198		2201	4298	6499	SO:0001630	splice_region_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123526198C>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.5371-1G>T	X.37:g.123526198C>A						ODZ1_uc011muj.1_Missense_Mutation_p.A1797S|ODZ1_uc010nqy.2_Missense_Mutation_p.A1798S	p.A1791S	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			27	5435	-			1791			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.5371G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288343	0.59976	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85861	-2.04;-2.01	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.83613	0.5292	M	0.65975	2.015	0.80722	D	1	B;B;B	0.30851	0.297;0.191;0.236	B;B;B	0.28385	0.089;0.073;0.075	D	0.83937	0.0309	10	0.87932	D	0	.	13.9824	0.64313	0.0:0.9232:0.0:0.0768	.	1797;1798;1791	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1791;1798	ENSP00000360171:A1791S;ENSP00000403954:A1798S	ENSP00000360171:A1791S	A	-	1	0	ODZ1	123353879	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.996000	0.57009	2.328000	0.79073	0.600000	0.82982	GCC		0.388	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	Missense_Mutation	22	115	1	0	5.26018e-13	0.012319	7.24774e-13	22	115				
TENM1	10178	broad.mit.edu	37	X	124030091	124030091	+	Splice_Site	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:124030091C>T	ENST00000371130.3	-	2	281		c.e2-1		TENM1_ENST00000422452.2_Splice_Site	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1						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)	p.?(1)									AATTCCATCTCTGAGAAGAAA	0.443																																							uc004euj.2		NA																	1	Unknown(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.e2-1		odz, odd Oz/ten-m homolog 1 isoform 3							81.0	76.0	78.0					X																	124030091		2203	4300	6503	SO:0001630	splice_region_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124030091C>T	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.218-1G>A	X.37:g.124030091C>T						ODZ1_uc011muj.1_Splice_Site_p.E73_splice|ODZ1_uc010nqy.2_Splice_Site_p.E73_splice	p.E73_splice	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			2	282	-								B2RTR5|Q5JZ17	Splice_Site	SNP	ENST00000371130.3	37	c.218_splice	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989688	0.74589	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5707	0.91135	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ODZ1	123857772	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.527000	0.60573	2.416000	0.81992	0.600000	0.82982	.		0.443	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	Intron	16	138	0	0	0	0.003163	0	16	138				
UTP14A	10813	broad.mit.edu	37	X	129060313	129060313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:129060313C>T	ENST00000394422.3	+	14	2069	c.2041C>T	c.(2041-2043)Cag>Tag	p.Q681*	UTP14A_ENST00000425117.2_Nonsense_Mutation_p.Q629*|UTP14A_ENST00000371042.3_Nonsense_Mutation_p.Q513*|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Nonsense_Mutation_p.Q627*	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	681					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)	p.Q681*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AGCTGCTCATCAGGTGAGAGC	0.463																																							uc004euz.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2041-2043)CAG>TAG		UTP14, U3 small nucleolar ribonucleoprotein,							62.0	58.0	59.0					X																	129060313		2203	4300	6503	SO:0001587	stop_gained	10813				rRNA processing	nucleolus|small-subunit processome	protein binding	g.chrX:129060313C>T	AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.2041C>T	X.37:g.129060313C>T	ENSP00000377944:p.Gln681*					UTP14A_uc011mup.1_Nonsense_Mutation_p.Q629*|UTP14A_uc011muq.1_Nonsense_Mutation_p.Q627*	p.Q681*	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN			14	2069	+			681					A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Nonsense_Mutation	SNP	ENST00000394422.3	37	c.2041C>T	CCDS14615.1	.	.	.	.	.	.	.	.	.	.	C	37	6.387222	0.97524	.	.	ENSG00000156697	ENST00000425117;ENST00000394422;ENST00000371051;ENST00000371042	.	.	.	6.08	5.21	0.72293	.	0.102172	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-14.6093	15.4411	0.75184	0.1399:0.86:0.0:0.0	.	.	.	.	X	629;681;627;513	.	ENSP00000360081:Q513X	Q	+	1	0	UTP14A	128887994	1.000000	0.71417	1.000000	0.80357	0.582000	0.36321	4.921000	0.63397	1.289000	0.44618	0.600000	0.82982	CAG		0.463	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058221.1	NM_006649		7	94	0	0	0	0.00308	0	7	94				
OR13H1	347468	broad.mit.edu	37	X	130678286	130678286	+	Missense_Mutation	SNP	A	A	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:130678286A>T	ENST00000338616.3	+	1	337	c.239A>T	c.(238-240)cAg>cTg	p.Q80L		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q80L(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCCATGCCCCAGGCTTTGGTG	0.478																																							uc011muw.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(238-240)CAG>CTG		olfactory receptor, family 13, subfamily H,							150.0	122.0	131.0					X																	130678286		2203	4300	6503	SO:0001583	missense	347468				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chrX:130678286A>T		CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"""GPCR / Class A : Olfactory receptors"""	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.239A>T	X.37:g.130678286A>T	ENSP00000340748:p.Gln80Leu					IGSF1_uc004ewf.2_Intron	p.Q80L	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN			1	239	+	Acute lymphoblastic leukemia(192;0.000636)		80			Extracellular (Potential).		B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	ENST00000338616.3	37	c.239A>T	CCDS35396.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.659792	0.00772	.	.	ENSG00000171054	ENST00000338616	T	0.01871	4.59	4.48	3.29	0.37713	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	U	0.002093	T	0.02267	0.0070	L	0.39147	1.195	0.09310	N	0.999998	B	0.22480	0.07	B	0.18263	0.021	T	0.45381	-0.9265	10	0.28530	T	0.3	.	7.7935	0.29133	0.8112:0.0:0.0:0.1888	.	80	Q8NG92	O13H1_HUMAN	L	80	ENSP00000340748:Q80L	ENSP00000340748:Q80L	Q	+	2	0	OR13H1	130505967	0.015000	0.18098	0.656000	0.29637	0.005000	0.04900	2.750000	0.47500	0.568000	0.29311	-0.405000	0.06341	CAG		0.478	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058297.1			13	109	0	0	0	0.001368	0	13	109				
HPRT1	3251	broad.mit.edu	37	X	133609244	133609244	+	Missense_Mutation	SNP	G	G	T			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:133609244G>T	ENST00000298556.7	+	3	327	c.168G>T	c.(166-168)gaG>gaT	p.E56D	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	56					adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.E56D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	TGATGAAGGAGATGGGAGGCC	0.393																																							uc004exl.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(166-168)GAG>GAT		hypoxanthine phosphoribosyltransferase 1	Mercaptopurine(DB01033)|Thioguanine(DB00352)						86.0	76.0	79.0					X																	133609244		2203	4300	6503	SO:0001583	missense	3251				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chrX:133609244G>T	M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"""Lesch-Nyhan syndrome"""	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.168G>T	X.37:g.133609244G>T	ENSP00000298556:p.Glu56Asp					HPRT1_uc010nrs.2_RNA	p.E56D	NM_000194	NP_000185	P00492	HPRT_HUMAN			3	335	+	Acute lymphoblastic leukemia(192;0.000127)		56					A6NHF0|B2R8M9	Missense_Mutation	SNP	ENST00000298556.7	37	c.168G>T	CCDS14641.1	.	.	.	.	.	.	.	.	.	.	G	1.294	-0.606709	0.03717	.	.	ENSG00000165704	ENST00000298556;ENST00000370796	D	0.99376	-5.79	4.68	2.91	0.33838	Phosphoribosyltransferase (1);	0.149394	0.64402	D	0.000013	D	0.91432	0.7296	N	0.00496	-1.435	0.42839	D	0.994046	B	0.02656	0.0	B	0.01281	0.0	D	0.86801	0.1992	10	0.02654	T	1	-11.4597	5.6772	0.17755	0.1917:0.274:0.5343:0.0	.	56	P00492	HPRT_HUMAN	D	56	ENSP00000298556:E56D	ENSP00000298556:E56D	E	+	3	2	HPRT1	133436910	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.405000	0.44548	0.365000	0.24400	-0.191000	0.12829	GAG		0.393	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058361.1	NM_000194		13	91	1	0	3.45872e-05	0.004007	3.96487e-05	13	91				
SLC9A6	10479	broad.mit.edu	37	X	135098878	135098878	+	Silent	SNP	G	G	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:135098878G>A	ENST00000370698.3	+	10	1250	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q	SLC9A6_ENST00000370695.4_Silent_p.Q437Q|SLC9A6_ENST00000370701.1_Silent_p.Q385Q	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	405					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)	p.Q405Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TCACCTTCCAGAACCATGTCT	0.333																																							uc004ezj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1213-1215)CAG>CAA		solute carrier family 9 (sodium/hydrogen							126.0	106.0	113.0					X																	135098878		2203	4300	6503	SO:0001819	synonymous_variant	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135098878G>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1215G>A	X.37:g.135098878G>A						SLC9A6_uc004ezk.2_Silent_p.Q437Q	p.Q405Q	NM_006359	NP_006350	Q92581	SL9A6_HUMAN			10	1291	+	Acute lymphoblastic leukemia(192;0.000127)		405			Helical; (Potential).		A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	ENST00000370698.3	37	c.1215G>A	CCDS14654.1																																																																																				0.333	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		10	86	0	0	0	0.008291	0	10	86				
ZIC3	7547	broad.mit.edu	37	X	136649310	136649310	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:136649310C>A	ENST00000287538.5	+	1	1010	c.460C>A	c.(460-462)Ccc>Acc	p.P154T	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Missense_Mutation_p.P154T	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	154					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P154T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGCTGGCATCCCCGAGCCCCC	0.716																																							uc004fak.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(460-462)CCC>ACC		zinc finger protein of the cerebellum 3							13.0	15.0	15.0					X																	136649310		2160	4216	6376	SO:0001583	missense	7547				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:136649310C>A	AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.460C>A	X.37:g.136649310C>A	ENSP00000287538:p.Pro154Thr						p.P154T	NM_003413	NP_003404	O60481	ZIC3_HUMAN			1	965	+	Acute lymphoblastic leukemia(192;0.000127)		154					B2CNW4|Q14DE5|Q5JY75	Missense_Mutation	SNP	ENST00000287538.5	37	c.460C>A	CCDS14663.1	.	.	.	.	.	.	.	.	.	.	c	0.138	-1.105694	0.01828	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	T;T	0.38401	1.14;1.14	4.47	2.6	0.31112	.	0.577396	0.17897	N	0.158318	T	0.19446	0.0467	N	0.16368	0.405	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.17077	-1.0381	10	0.23302	T	0.38	.	7.5777	0.27946	0.0:0.6296:0.2625:0.1078	.	154	O60481	ZIC3_HUMAN	T	154	ENSP00000287538:P154T;ENSP00000359638:P154T	ENSP00000287538:P154T	P	+	1	0	ZIC3	136476976	0.019000	0.18553	0.502000	0.27614	0.677000	0.39632	-0.042000	0.12063	0.894000	0.36317	0.597000	0.82753	CCC		0.716	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058526.1			5	28	1	0	0.00116845	0.001168	0.00127057	5	28				
FGF13	2258	broad.mit.edu	37	X	137793040	137793040	+	Missense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:137793040C>A	ENST00000315930.6	-	1	787	c.126G>T	c.(124-126)aaG>aaT	p.K42N	FGF13_ENST00000541469.1_Intron|FGF13_ENST00000370603.3_Intron|FGF13-AS1_ENST00000438238.1_RNA|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000441825.2_Intron|FGF13-AS1_ENST00000446383.1_RNA	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	42	Mediates targeting to the nucleus. {ECO:0000250}.				cell-cell signaling (GO:0007267)|cerebral cortex cell migration (GO:0021795)|establishment of neuroblast polarity (GO:0045200)|hippocampus development (GO:0021766)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|microtubule polymerization (GO:0046785)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of microtubule depolymerization (GO:0007026)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|positive regulation of protein kinase activity (GO:0045860)|protein localization to plasma membrane (GO:0072659)|signal transduction (GO:0007165)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|filopodium (GO:0030175)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|microtubule (GO:0005874)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-tubulin binding (GO:0048487)|growth factor activity (GO:0008083)|ion channel binding (GO:0044325)|microtubule binding (GO:0008017)|protein kinase activator activity (GO:0030295)|sodium channel regulator activity (GO:0017080)	p.K42N(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AGACATTTAACTTGTTTTTGT	0.522																																							uc004fam.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|large_intestine(1)|breast(1)	3						c.(124-126)AAG>AAT		fibroblast growth factor 13 isoform 1							150.0	137.0	141.0					X																	137793040		2203	4300	6503	SO:0001583	missense	2258				cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	g.chrX:137793040C>A	BC034340	CCDS14664.1, CCDS14665.1, CCDS55511.1	Xq26.3	2008-02-05			ENSG00000129682	ENSG00000129682			3670	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 2"""	300070				8790420	Standard	NM_033642		Approved	FHF2, FGF2	uc011mwj.2	Q92913	OTTHUMG00000022532	ENST00000315930.6:c.126G>T	X.37:g.137793040C>A	ENSP00000322390:p.Lys42Asn					FGF13_uc004fan.2_Intron|FGF13_uc011mwi.1_Intron|FGF13_uc004faq.2_Intron|FGF13_uc004far.2_Intron|FGF13_uc011mwj.1_Intron|FGF13_uc011mwk.1_Intron|uc004fao.2_5'Flank	p.K42N	NM_004114	NP_004105	Q92913	FGF13_HUMAN			1	788	-	Acute lymphoblastic leukemia(192;0.000127)		42					B1AK18|B7Z4M7|B7Z8N0|D3DWH4|O95830|Q9NZH9|Q9NZI0	Missense_Mutation	SNP	ENST00000315930.6	37	c.126G>T	CCDS14665.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469966	0.43839	.	.	ENSG00000129682	ENST00000315930	T	0.77098	-1.07	4.5	4.5	0.54988	.	.	.	.	.	T	0.65780	0.2724	L	0.29908	0.895	0.80722	D	1	B	0.18013	0.025	B	0.21708	0.036	T	0.61865	-0.6975	9	0.35671	T	0.21	.	9.5943	0.39565	0.0:0.9004:0.0:0.0996	.	42	Q92913	FGF13_HUMAN	N	42	ENSP00000322390:K42N	ENSP00000322390:K42N	K	-	3	2	FGF13	137620706	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.360000	0.34125	1.986000	0.57962	0.529000	0.55759	AAG		0.522	FGF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058534.2	NM_004114		14	141	1	0	3.27435e-08	0.00245	4.15931e-08	14	141				
FMR1NB	158521	broad.mit.edu	37	X	147063058	147063058	+	Missense_Mutation	SNP	G	G	C	rs149919226		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:147063058G>C	ENST00000370467.3	+	1	210	c.136G>C	c.(136-138)Gag>Cag	p.E46Q		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	46						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.E46Q(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGGATACGAGGCCGCCAT	0.562																																							uc004fcm.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(136-138)GAG>CAG		fragile X mental retardation 1 neighbor							93.0	80.0	84.0					X																	147063058		2203	4300	6503	SO:0001583	missense	158521					integral to membrane		g.chrX:147063058G>C		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.136G>C	X.37:g.147063058G>C	ENSP00000359498:p.Glu46Gln						p.E46Q	NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN			1	210	+	Acute lymphoblastic leukemia(192;6.56e-05)		46			Cytoplasmic (Potential).		D3DWT3	Missense_Mutation	SNP	ENST00000370467.3	37	c.136G>C	CCDS14683.1	.	.	.	.	.	.	.	.	.	.	g	6.124	0.391205	0.11581	.	.	ENSG00000176988	ENST00000370467	T	0.45668	0.89	1.78	-2.96	0.05547	.	.	.	.	.	T	0.20333	0.0489	N	0.14661	0.345	0.09310	N	1	B	0.23891	0.093	B	0.24155	0.051	T	0.22836	-1.0205	9	0.21014	T	0.42	-0.8891	5.7442	0.18110	0.1558:0.4313:0.4129:0.0	.	46	Q8N0W7	FMR1N_HUMAN	Q	46	ENSP00000359498:E46Q	ENSP00000359498:E46Q	E	+	1	0	FMR1NB	146870750	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.189000	0.03061	-1.114000	0.02977	-0.330000	0.08379	GAG		0.562	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		4	46	0	0	0	0.009096	0	4	46				
MAGEA3	4102	broad.mit.edu	37	X	151935329	151935329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:151935329C>A	ENST00000393902.3	-	3	1405	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E280*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	280	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E280*(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCTGGTTTCAACGAGGGCC	0.532																																							uc004fgp.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(838-840)GAA>TAA		melanoma antigen family A, 3							156.0	150.0	152.0					X																	151935329		2202	4296	6498	SO:0001587	stop_gained	4102							g.chrX:151935329C>A		CCDS76045.1	Xq28	2009-03-13			ENSG00000221867	ENSG00000221867			6801	protein-coding gene	gene with protein product	"""melanoma-associated antigen 3"", ""antigen MZ2-D"", ""MAGE-3 antigen"", ""cancer/testis antigen family 1, member 3"""	300174		MAGE3		1840703, 8575766	Standard	NM_005362		Approved	HYPD, HIP8, MGC14613, CT1.3	uc004fgp.3	P43357	OTTHUMG00000022640	ENST00000393902.3:c.838G>T	X.37:g.151935329C>A	ENSP00000377480:p.Glu280*						p.E280*	NM_005362	NP_005353	P43357	MAGA3_HUMAN			3	1047	-	Acute lymphoblastic leukemia(192;6.56e-05)		280			MAGE.		Q6FHI6	Nonsense_Mutation	SNP	ENST00000393902.3	37	c.838G>T	CCDS14715.1	.	.	.	.	.	.	.	.	.	.	c	34	5.385797	0.95967	.	.	ENSG00000221867	ENST00000370278;ENST00000393902	.	.	.	1.42	1.42	0.22433	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.48452	D	0.999652	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.7818	0.18310	0.0:1.0:0.0:0.0	.	.	.	.	X	280	.	ENSP00000359301:E280X	E	-	1	0	MAGEA3	151685985	0.206000	0.23470	0.013000	0.15412	0.002000	0.02628	1.588000	0.36633	1.002000	0.39104	0.358000	0.22013	GAA		0.532	MAGEA3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058744.1	NM_005362		24	158	1	0	1.96895e-08	0.00278	2.52383e-08	24	158				
GDI1	2664	broad.mit.edu	37	X	153668831	153668831	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:153668831G>C	ENST00000447750.2	+	6	1032	c.697G>C	c.(697-699)Gag>Cag	p.E233Q		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	233					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.E233Q(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGGCTTGGGCGAGCTGCCCCA	0.562																																							uc004fli.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(697-699)GAG>CAG		GDP dissociation inhibitor 1							108.0	101.0	103.0					X																	153668831		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153668831G>C	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.697G>C	X.37:g.153668831G>C	ENSP00000394071:p.Glu233Gln					GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank	p.E233Q	NM_001493	NP_001484	P31150	GDIA_HUMAN			6	1039	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		233					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.697G>C	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814380	0.70912	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	D	0.89485	-2.52	5.71	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.95586	0.8565	H	0.94542	3.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95675	0.8727	10	0.72032	D	0.01	-36.7239	11.2219	0.48860	0.0906:0.0:0.9094:0.0	.	233	P31150	GDIA_HUMAN	Q	233;217	ENSP00000394071:E233Q	ENSP00000358756:E217Q	E	+	1	0	GDI1	153322025	1.000000	0.71417	0.901000	0.35422	0.420000	0.31355	9.797000	0.99108	1.157000	0.42530	0.600000	0.82982	GAG		0.562	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		8	84	0	0	0	0.006214	0	8	84				
PLXNA3	55558	broad.mit.edu	37	X	153689814	153689814	+	Missense_Mutation	SNP	G	G	C			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chrX:153689814G>C	ENST00000369682.3	+	3	1145	c.970G>C	c.(970-972)Ggc>Cgc	p.G324R		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	324	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.G324R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCTCTCAGGGCCAGAAGAA	0.657																																							uc004flm.2		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(970-972)GGC>CGC		plexin A3 precursor							88.0	87.0	87.0					X																	153689814		2203	4300	6503	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153689814G>C	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.970G>C	X.37:g.153689814G>C	ENSP00000358696:p.Gly324Arg						p.G324R	NM_017514	NP_059984	P51805	PLXA3_HUMAN			3	1143	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		324			Sema.|Extracellular (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.970G>C	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935231	0.73442	.	.	ENSG00000130827	ENST00000369682	T	0.05319	3.46	5.08	5.08	0.68730	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.31513	0.0799	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.21999	-1.0229	10	0.87932	D	0	.	16.1693	0.81790	0.0:0.0:1.0:0.0	.	324	P51805	PLXA3_HUMAN	R	324	ENSP00000358696:G324R	ENSP00000358696:G324R	G	+	1	0	PLXNA3	153343008	1.000000	0.71417	0.997000	0.53966	0.486000	0.33341	9.396000	0.97270	2.335000	0.79485	0.600000	0.82982	GGC		0.657	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		8	126	0	0	0	0.00308	0	8	126				
DFFA	1676	broad.mit.edu	37	1	10527291	10527291	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:10527291delC	ENST00000377038.3	-	3	464	c.397delG	c.(397-399)gaafs	p.E133fs	DFFA_ENST00000377036.2_Frame_Shift_Del_p.E133fs	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	133					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GACAGATCTTCTTTCAGCTGC	0.537																																							uc001arj.2		NA																	0					0						c.(397-399)GAAfs		DNA fragmentation factor, 45kDa, alpha							190.0	177.0	182.0					1																	10527291		2203	4300	6503	SO:0001589	frameshift_variant	1676				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding	g.chr1:10527291delC	AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.397delG	1.37:g.10527291delC	ENSP00000366237:p.Glu133fs					DFFA_uc001ark.2_Frame_Shift_Del_p.E133fs	p.E133fs	NM_004401	NP_004392	O00273	DFFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)	3	495	-	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	133					Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Frame_Shift_Del	DEL	ENST00000377038.3	37	c.397delG	CCDS118.1																																																																																				0.537	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401		12	185	NA	NA	NA	NA	NA	12	185	---	---	---	---
SELENBP1	8991	broad.mit.edu	37	1	151337134	151337136	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:151337134_151337136delCCT	ENST00000368868.5	-	12	1393_1395	c.1302_1304delAGG	c.(1300-1305)ggaggg>ggg	p.434_435GG>G	SELENBP1_ENST00000435071.1_In_Frame_Del_p.370_371GG>G|SELENBP1_ENST00000447402.3_In_Frame_Del_p.372_373GG>G|SELENBP1_ENST00000426705.2_In_Frame_Del_p.476_477GG>G|SELENBP1_ENST00000473693.1_5'Flank	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	434					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAACTTCAGCCCTCCTTTTACTG	0.591																																							uc001exx.2		NA																	0					0						c.(1300-1305)GGAGGG>GGG		selenium binding protein 1																																				SO:0001651	inframe_deletion	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337134_151337136delCCT	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1302_1304delAGG	1.37:g.151337137_151337139delCCT	ENSP00000357861:p.Gly435del					SELENBP1_uc010pcy.1_In_Frame_Del_p.476_477GG>G|SELENBP1_uc001exy.2_In_Frame_Del_p.331_332GG>G|SELENBP1_uc001exz.2_In_Frame_Del_p.331_332GG>G|SELENBP1_uc010pcz.1_In_Frame_Del_p.372_373GG>G|SELENBP1_uc009wms.2_In_Frame_Del_p.270_271GG>G|SELENBP1_uc009wmt.2_In_Frame_Del_p.331_332GG>G|SELENBP1_uc001eya.2_In_Frame_Del_p.370_371GG>G|SELENBP1_uc009wmu.2_3'UTR	p.434_435GG>G	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	1349_1351	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		434_435					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	In_Frame_Del	DEL	ENST00000368868.5	37	c.1302_1304delAGG	CCDS995.1																																																																																				0.591	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			13	161	NA	NA	NA	NA	NA	13	161	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237777945	237777945	+	Frame_Shift_Del	DEL	G	G	-	rs369835453		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr1:237777945delG	ENST00000366574.2	+	37	5834	c.5517delG	c.(5515-5517)ttgfs	p.L1839fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.L1823fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.L1837fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1839	4 X approximate repeats.				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)			ACGAGGACTTGAAGCACATCT	0.507																																							uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5515-5517)TTGfs		cardiac muscle ryanodine receptor							106.0	102.0	103.0					1																	237777945		1988	4180	6168	SO:0001589	frameshift_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.chr1:237777945delG	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.5517delG	1.37:g.237777945delG	ENSP00000355533:p.Leu1839fs						p.L1839fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5637	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1839			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Frame_Shift_Del	DEL	ENST00000366574.2	37	c.5517delG	CCDS55691.1																																																																																				0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	157	NA	NA	NA	NA	NA	8	157	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93540598	93540600	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	ATT	ATT	-	-	ATT	ATT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr15:93540598_93540600delATT	ENST00000394196.4	+	30	4918_4920	c.3850_3852delATT	c.(3850-3852)attdel	p.I1284del	CHD2_ENST00000557381.1_In_Frame_Del_p.I1284del	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1284					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTGGGAGTTAATTAAAACAGACC	0.384																																							uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(3850-3852)ATTdel		chromodomain helicase DNA binding protein 2																																				SO:0001651	inframe_deletion	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93540598_93540600delATT	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.3850_3852delATT	15.37:g.93540598_93540600delATT	ENSP00000377747:p.Ile1284del					CHD2_uc002bso.1_In_Frame_Del_p.I1284del	p.I1284del	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		30	4425_4427	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1284					C6G482|Q96IP5	In_Frame_Del	DEL	ENST00000394196.4	37	c.3850_3852delATT	CCDS10374.2																																																																																				0.384	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		8	110	NA	NA	NA	NA	NA	8	110	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15290919	15290919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:15290919delC	ENST00000263388.2	-	20	3366	c.3291delG	c.(3289-3291)gggfs	p.G1097fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1097	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACGGCAGGTCCCCCCATGCT	0.652																																							uc002nan.2		NA																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(3289-3291)GGGfs		Notch homolog 3 precursor							46.0	44.0	44.0					19																	15290919		2203	4300	6503	SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15290919delC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3291delG	19.37:g.15290919delC	ENSP00000263388:p.Gly1097fs					NOTCH3_uc002nao.1_Frame_Shift_Del_p.G1045fs	p.G1097fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		20	3367	-			1097			Extracellular (Potential).|EGF-like 28.		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	c.3291delG	CCDS12326.1																																																																																				0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		13	58	NA	NA	NA	NA	NA	13	58	---	---	---	---
C5AR1	728	broad.mit.edu	37	19	47823845	47823847	+	In_Frame_Del	DEL	TCG	TCG	-	rs200857143		TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr19:47823845_47823847delTCG	ENST00000355085.3	+	2	833_835	c.811_813delTCG	c.(811-813)tcgdel	p.S272del		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	272					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CCTGGAGCCATCGTCACCCACCT	0.557																																							uc002pgj.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(811-813)TCGdel		complement component 5 receptor 1																																				SO:0001651	inframe_deletion	728				activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47823845_47823847delTCG		CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.811_813delTCG	19.37:g.47823845_47823847delTCG	ENSP00000347197:p.Ser272del						p.S272del	NM_001736	NP_001727	P21730	C5AR_HUMAN		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)	2	860_862	+		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	272			Extracellular (Potential).			In_Frame_Del	DEL	ENST00000355085.3	37	c.811_813delTCG	CCDS33063.1																																																																																				0.557	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466925.1	NM_001736		10	83	NA	NA	NA	NA	NA	10	83	---	---	---	---
ELMOD2	255520	broad.mit.edu	37	4	141464740	141464752	+	Splice_Site	DEL	TGTGAGTATTAAA	TGTGAGTATTAAA	-			TCGA-73-4658-01A-01D-1753-08	TCGA-73-4658-11A-01D-1753-08	TGTGAGTATTAAA	TGTGAGTATTAAA	-	-	TGTGAGTATTAAA	TGTGAGTATTAAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b11151cf-6976-4812-a77e-1a12f9d1245c	063c2c69-0159-47e9-8b64-06ce8883a64c	g.chr4:141464740_141464752delTGTGAGTATTAAA	ENST00000323570.3	+	8	868	c.736delTGTGAGTATTAAA	c.(736-738)tgt>gt	p.C246fs		NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	246	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				defense response to virus (GO:0051607)|phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)|regulation of defense response to virus (GO:0050688)	cytoskeleton (GO:0005856)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TCAGTTTTACTGTGAGTATTAAAATGAGTTAAA	0.3																																							uc003iik.2		NA																	0				ovary(1)	1						c.e8+1		ELMO/CED-12 domain containing 2																																				SO:0001630	splice_region_variant	255520				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity	g.chr4:141464740_141464752delTGTGAGTATTAAA	BX648349	CCDS3752.1	4q31.1	2006-10-24	2006-01-20		ENSG00000179387	ENSG00000179387			28111	protein-coding gene	gene with protein product		610196	"""ELMO domain containing 2"""			16773575	Standard	NM_153702		Approved	MGC10084	uc003iik.3	Q8IZ81	OTTHUMG00000133417	ENST00000323570.3:c.736+1TGTGAGTATTAAA>-	4.37:g.141464740_141464752delTGTGAGTATTAAA							p.C246_splice	NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN			8	828	+	all_hematologic(180;0.162)							B2R712|D3DNZ0	Splice_Site	DEL	ENST00000323570.3	37	c.736_splice	CCDS3752.1																																																																																				0.300	ELMOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257277.2	NM_153702	Frame_Shift_Del	9	41	NA	NA	NA	NA	NA	9	41	---	---	---	---
