#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
UBL4B	164153	broad.mit.edu	37	1	110655410	110655410	+	Missense_Mutation	SNP	C	C	T	rs372349264		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:110655410C>T	ENST00000334179.3	+	1	349	c.254C>T	c.(253-255)cCg>cTg	p.P85L		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	85						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCCACCAGCCGCAGACCCAG	0.577																																						ENST00000334179.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(253-255)cCg>cTg		ubiquitin-like 4B		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	64.0	69.0	68.0		254	2.9	0.0	1		68	0,8600		0,0,4300	no	missense	UBL4B	NM_203412.1	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	85/175	110655410	1,13005	2203	4300	6503	SO:0001583	missense	164153					cytoplasm		g.chr1:110655410C>T		CCDS820.1	1p13.3	2013-09-24			ENSG00000186150	ENSG00000186150			32309	protein-coding gene	gene with protein product		611127				16872915	Standard	NM_203412		Approved	FLJ25690	uc001dzc.3	Q8N7F7	OTTHUMG00000166989	ENST00000334179.3:c.254C>T	1.37:g.110655410C>T	ENSP00000334044:p.Pro85Leu						p.P85L	NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	349	+		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	85						Missense_Mutation	SNP	ENST00000334179.3	37	c.254C>T	CCDS820.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120353	0.06838	2.27E-4	0.0	ENSG00000186150	ENST00000334179	.	.	.	2.88	2.88	0.33553	.	0.910646	0.09305	N	0.820396	T	0.09335	0.0230	N	0.24115	0.695	0.09310	N	1	B	0.32731	0.382	B	0.23018	0.043	T	0.13899	-1.0492	9	0.30078	T	0.28	-13.3142	10.666	0.45731	0.0:1.0:0.0:0.0	.	85	Q8N7F7	UBL4B_HUMAN	L	85	.	ENSP00000334044:P85L	P	+	2	0	UBL4B	110456933	0.008000	0.16893	0.001000	0.08648	0.019000	0.09904	0.445000	0.21677	1.402000	0.46780	0.561000	0.74099	CCG		0.577	UBL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392303.1	NM_203412		14	36	0	0	0	0.479597	0	14	36				
LSG1	55341	broad.mit.edu	37	3	194392825	194392825	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:194392825G>A	ENST00000265245.5	-	1	381	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	LSG1_ENST00000480853.1_Intron	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	23					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		CTTCGGCTCCGCTGAGTCTGA	0.597																																						ENST00000265245.5																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16						c.(67-69)Cgg>Tgg		large 60S subunit nuclear export GTPase 1							58.0	56.0	57.0					3																	194392825		2203	4300	6503	SO:0001583	missense	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194392825G>A		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.67C>T	3.37:g.194392825G>A	ENSP00000265245:p.Arg23Trp					LSG1_ENST00000480853.1_Intron	p.R23W	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	1	381	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		23					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Missense_Mutation	SNP	ENST00000265245.5	37	c.67C>T	CCDS33922.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852556	0.71719	.	.	ENSG00000041802	ENST00000265245	T	0.42513	0.97	4.29	2.42	0.29668	.	0.499968	0.21979	N	0.066325	T	0.39253	0.1071	L	0.27053	0.805	0.33247	D	0.558033	D	0.76494	0.999	P	0.55455	0.776	T	0.52638	-0.8549	10	0.72032	D	0.01	.	7.2788	0.26300	0.0:0.1873:0.6187:0.194	.	23	Q9H089	LSG1_HUMAN	W	23	ENSP00000265245:R23W	ENSP00000265245:R23W	R	-	1	2	LSG1	195874114	0.997000	0.39634	1.000000	0.80357	0.933000	0.57130	0.492000	0.22435	0.698000	0.31739	0.655000	0.94253	CGG		0.597	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		13	24	0	0	0	0.479597	0	13	24				
ATP12A	479	broad.mit.edu	37	13	25266965	25266965	+	Silent	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:25266965A>G	ENST00000381946.3	+	10	1475	c.1308A>G	c.(1306-1308)ttA>ttG	p.L436L	ATP12A_ENST00000218548.6_Silent_p.L442L			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	436					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GGGCCTCCTTATCCAAGATAA	0.483																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(1324-1326)ttA>ttG		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						215.0	210.0	212.0					13																	25266965		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25266965A>G	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.1308A>G	13.37:g.25266965A>G						ATP12A_ENST00000381946.3_Silent_p.L436L	p.L442L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	10	1659	+		Lung SC(185;0.0225)|Breast(139;0.077)	436					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.1326A>G	CCDS31948.1																																																																																				0.483	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		57	147	0	0	0	0.870114	0	57	147				
SLITRK5	26050	broad.mit.edu	37	13	88329806	88329806	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:88329806C>T	ENST00000325089.6	+	2	2382	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G	SLITRK5_ENST00000400028.3_Silent_p.G480G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	721					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCGGCGGCGGCGGCACGGGCG	0.652																																						ENST00000325089.6																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(2161-2163)ggC>ggT		SLIT and NTRK-like family, member 5							42.0	50.0	47.0					13																	88329806		2202	4294	6496	SO:0001819	synonymous_variant	26050					integral to membrane		g.chr13:88329806C>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2163C>T	13.37:g.88329806C>T						SLITRK5_ENST00000400028.3_Silent_p.G480G	p.G721G	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN			2	2382	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		721					B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	c.2163C>T	CCDS9465.1																																																																																				0.652	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			16	33	0	0	0	0.539581	0	16	33				
CASP8	841	broad.mit.edu	37	2	202149659	202149659	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:202149659A>G	ENST00000432109.2	+	9	1112	c.923A>G	c.(922-924)gAc>gGc	p.D308G	CASP8_ENST00000264275.5_Missense_Mutation_p.D325G|CASP8_ENST00000358485.4_Missense_Mutation_p.D367G|CASP8_ENST00000264274.9_Missense_Mutation_p.D224G|CASP8_ENST00000323492.7_Missense_Mutation_p.D293G|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	308					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGTAACATGGACTGCTTCATC	0.468										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	ENST00000358485.4																			0				breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						c.(1099-1101)gAc>gGc		caspase 8, apoptosis-related cysteine peptidase							180.0	153.0	162.0					2																	202149659		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	g.chr2:202149659A>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.923A>G	2.37:g.202149659A>G	ENSP00000412523:p.Asp308Gly	HNSCC(4;0.00038)				CASP8_ENST00000323492.7_Missense_Mutation_p.D293G|CASP8_ENST00000432109.2_Missense_Mutation_p.D308G|CASP8_ENST00000264275.5_Missense_Mutation_p.D325G|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264274.9_Missense_Mutation_p.D224G	p.D367G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN			8	1296	+			308					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.1100A>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707474	0.68615	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.68	5.68	0.88126	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.048610	0.85682	D	0.000000	T	0.64114	0.2569	M	0.84156	2.68	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.98;0.991;0.989	D;D;D;D;D	0.97110	1.0;0.955;0.966;0.988;0.955	T	0.68546	-0.5380	10	0.56958	D	0.05	.	15.9161	0.79521	1.0:0.0:0.0:0.0	.	224;367;308;293;325	Q14790-3;Q14790-9;Q14790;Q14790-2;Q14790-4	.;.;CASP8_HUMAN;.;.	G	293;224;308;325;367;293;87	ENSP00000376091:D293G;ENSP00000264274:D224G;ENSP00000412523:D308G;ENSP00000264275:D325G;ENSP00000351273:D367G;ENSP00000325722:D293G;ENSP00000394434:D87G	ENSP00000264274:D224G	D	+	2	0	CASP8	201857904	1.000000	0.71417	0.946000	0.38457	0.566000	0.35808	9.079000	0.94032	2.170000	0.68504	0.459000	0.35465	GAC		0.468	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		62	38	0	0	0	0.870114	0	62	38				
SLC36A2	153201	broad.mit.edu	37	5	150723750	150723750	+	Silent	SNP	G	G	A	rs375216847		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:150723750G>A	ENST00000335244.4	-	2	372	c.243C>T	c.(241-243)aaC>aaT	p.N81N	SLC36A2_ENST00000521967.1_Silent_p.N81N	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	81					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GGATGCCCGCGTTCTTCACAG	0.547																																						ENST00000335244.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(241-243)aaC>aaT		solute carrier family 36 (proton/amino acid symporter), member 2		G		1,4405	2.1+/-5.4	0,1,2202	89.0	78.0	82.0		243	-10.1	0.3	5		82	0,8600		0,0,4300	no	coding-synonymous	SLC36A2	NM_181776.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		81/484	150723750	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150723750G>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.243C>T	5.37:g.150723750G>A						SLC36A2_ENST00000521967.1_Silent_p.N81N	p.N81N	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	372	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	81					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.243C>T	CCDS4315.1																																																																																				0.547	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			5	17	0	0	0	0.248553	0	5	17				
MAP4	4134	broad.mit.edu	37	3	47912526	47912526	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:47912526G>A	ENST00000360240.6	-	13	3154	c.2636C>T	c.(2635-2637)gCc>gTc	p.A879V	MAP4_ENST00000264724.11_Missense_Mutation_p.A614V|MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000426837.2_Missense_Mutation_p.A2024V|MAP4_ENST00000395734.3_Missense_Mutation_p.A879V|MAP4_ENST00000420772.2_Missense_Mutation_p.A610V|MAP4_ENST00000441748.2_Missense_Mutation_p.A31V|MAP4_ENST00000383737.4_Missense_Mutation_p.A607V	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	879					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGCAGCGGGGGCTGTCCCACT	0.587																																						ENST00000426837.2																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(6070-6072)gCc>gTc		microtubule-associated protein 4							50.0	56.0	54.0					3																	47912526		2203	4300	6503	SO:0001583	missense	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47912526G>A		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2636C>T	3.37:g.47912526G>A	ENSP00000353375:p.Ala879Val					MAP4_ENST00000360240.6_Missense_Mutation_p.A879V|MAP4_ENST00000383737.4_Missense_Mutation_p.A607V|MAP4_ENST00000441748.2_Missense_Mutation_p.A31V|MAP4_ENST00000395734.3_Missense_Mutation_p.A879V|MAP4_ENST00000420772.2_Missense_Mutation_p.A610V|MAP4_ENST00000264724.11_Missense_Mutation_p.A614V	p.A2024V			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	15	6158	-			879					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Missense_Mutation	SNP	ENST00000360240.6	37	c.6071C>T	CCDS33750.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703548	0.68501	.	.	ENSG00000047849	ENST00000383737;ENST00000264724;ENST00000395734;ENST00000426837;ENST00000360240;ENST00000420772;ENST00000335271;ENST00000441748;ENST00000383736	T;T;T;T;T;T;T;T	0.34472	3.0;1.44;3.17;3.17;3.15;1.95;2.11;1.36	5.65	4.77	0.60923	.	.	.	.	.	T	0.51500	0.1678	L	0.46157	1.445	0.09310	N	1	D;P;D;P;P;P;D	0.63046	0.992;0.941;0.969;0.907;0.902;0.483;0.983	P;P;P;P;P;B;P	0.61722	0.893;0.852;0.688;0.49;0.655;0.084;0.833	T	0.47509	-0.9112	9	0.62326	D	0.03	-2.6815	15.6933	0.77473	0.0:0.1372:0.8628:0.0	.	610;614;879;879;614;607;2024	F8W9U4;P27816-4;P27816-6;P27816;E9PGM5;B9ZVR1;E7EVA0	.;.;.;MAP4_HUMAN;.;.;.	V	607;614;879;2024;879;610;245;31;614	ENSP00000373243:A607V;ENSP00000264724:A614V;ENSP00000379083:A879V;ENSP00000407602:A2024V;ENSP00000353375:A879V;ENSP00000409731:A610V;ENSP00000334770:A245V;ENSP00000415130:A31V	ENSP00000264724:A614V	A	-	2	0	MAP4	47887530	0.013000	0.17824	0.011000	0.14972	0.020000	0.10135	1.856000	0.39389	1.360000	0.45960	0.655000	0.94253	GCC		0.587	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		18	41	0	0	0	0.520397	0	18	41				
PIP5K1A	8394	broad.mit.edu	37	1	151204248	151204248	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:151204248C>G	ENST00000368888.4	+	5	761	c.339C>G	c.(337-339)ttC>ttG	p.F113L	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.F101L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.F100L|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.F101L|PIP5K1A_ENST00000414290.2_5'Flank	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	113	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCAAGATTTCTACGTGGTTG	0.483																																					Pancreas(80;36 1443 2325 16095 21302)	ENST00000409426.1																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.(301-303)ttC>ttG		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							178.0	152.0	161.0					1																	151204248		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151204248C>G	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.339C>G	1.37:g.151204248C>G	ENSP00000357883:p.Phe113Leu					PIP5K1A_ENST00000441902.2_Missense_Mutation_p.F101L|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.F113L|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.F100L	p.F101L			Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		4	748	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		113			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.303C>G	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310299	0.81358	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888;ENST00000418435	T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6	5.44	3.55	0.40652	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.57755	0.2075	H	0.98786	4.33	0.80722	D	1	P;P;P;D	0.57899	0.843;0.95;0.756;0.981	P;P;P;P	0.56648	0.714;0.694;0.598;0.803	T	0.75033	-0.3460	9	.	.	.	.	12.1061	0.53813	0.0:0.8576:0.0:0.1424	.	101;100;113;100	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	L	100;101;101;100;113;77	ENSP00000271663:F100L;ENSP00000386432:F101L;ENSP00000415648:F101L;ENSP00000357885:F100L;ENSP00000357883:F113L;ENSP00000414632:F77L	.	F	+	3	2	PIP5K1A	149470872	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	1.287000	0.33284	1.554000	0.49487	0.644000	0.83932	TTC		0.483	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		27	54	0	0	0	0.693898	0	27	54				
CHM	1121	broad.mit.edu	37	X	85302517	85302517	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:85302517G>A	ENST00000357749.2	-	1	49	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000358786.4_Missense_Mutation_p.S7L|CHM_ENST00000467744.2_5'Flank	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	7					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				ATCAAACTCCGAAGGGAGAGT	0.468																																						ENST00000357749.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20						c.(19-21)tCg>tTg		choroideremia (Rab escort protein 1)							121.0	71.0	88.0					X																	85302517		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85302517G>A	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.20C>T	X.37:g.85302517G>A	ENSP00000350386:p.Ser7Leu					CHM_ENST00000537751.1_5'UTR|CHM_ENST00000358786.4_Missense_Mutation_p.S7L	p.S7L	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN			1	49	-		all_lung(315;5.41e-06)	7					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.20C>T	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809131	0.70797	.	.	ENSG00000188419	ENST00000357749;ENST00000358786	D;D	0.85861	-2.04;-2.04	5.06	4.2	0.49525	.	0.145674	0.47852	D	0.000213	D	0.86062	0.5843	L	0.61218	1.895	0.80722	D	1	D;D	0.59767	0.986;0.981	P;B	0.49887	0.625;0.385	D	0.86071	0.1538	10	0.52906	T	0.07	-3.4824	12.6404	0.56707	0.0827:0.0:0.9173:0.0	.	7;7	A1L4D2;P24386	.;RAE1_HUMAN	L	7	ENSP00000350386:S7L;ENSP00000362228:S7L	ENSP00000350386:S7L	S	-	2	0	CHM	85189173	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.392000	0.59659	1.122000	0.41944	-0.176000	0.13171	TCG		0.468	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		7	4	0	0	0	0.278610	0	7	4				
MAGEA12	4111	broad.mit.edu	37	X	151896334	151896334	+	IGR	SNP	G	G	A	rs2515828	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:151896334G>A	ENST00000357916.4	-	0	1664				CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12									p.P26P(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GTTCCCTTCCGGGTTGTCTTG	0.527													.|||	1768	0.468344	0.4735	0.5231	3775	,	,		11227	0.245		0.2793	False		,,,				2504	0.2566					ENST00000361201.4																			2	Substitution - coding silent(2)	p.P26P(2)	kidney(1)|endometrium(1)	endometrium(2)|kidney(2)|lung(1)	5																																												SO:0001628	intergenic_variant	100130935							g.chrX:151896334G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650		X.37:g.151896334G>A								NR_073432.1						0	396	-								Q9NSD3	RNA	SNP	ENST00000357916.4	37		CCDS14710.1																																																																																				0.527	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		4	50	0	0	0	0.184627	0	4	50				
SPATA31D1	389763	broad.mit.edu	37	9	84605930	84605930	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:84605930A>T	ENST00000344803.2	+	4	592	c.545A>T	c.(544-546)gAa>gTa	p.E182V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	182	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACCCCTCCAGAAGACCTAATA	0.547																																						ENST00000344803.2																			0											c.(544-546)gAa>gTa		SPATA31 subfamily D, member 1							117.0	116.0	116.0					9																	84605930		1937	4139	6076	SO:0001583	missense	389763							g.chr9:84605930A>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.545A>T	9.37:g.84605930A>T	ENSP00000341988:p.Glu182Val						p.E182V	NM_001001670.2	NP_001001670.1					4	592	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.545A>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	A	12.29	1.894850	0.33442	.	.	ENSG00000214929	ENST00000344803	T	0.05513	3.43	3.1	-0.979	0.10276	.	1.415530	0.04905	N	0.452142	T	0.06645	0.0170	L	0.40543	1.245	0.09310	N	1	P	0.52316	0.952	B	0.44315	0.446	T	0.29792	-1.0000	10	0.37606	T	0.19	-0.3351	3.1028	0.06331	0.4212:0.2228:0.356:0.0	.	182	Q6ZQQ2	F75D1_HUMAN	V	182	ENSP00000341988:E182V	ENSP00000341988:E182V	E	+	2	0	FAM75D1	83795750	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.101000	0.15251	-0.164000	0.10927	-0.426000	0.05927	GAA		0.547	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		20	59	0	0	0	0.592651	0	20	59				
ABCA2	20	broad.mit.edu	37	9	139912245	139912245	+	Silent	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:139912245G>C	ENST00000371605.3	-	15	2349	c.2202C>G	c.(2200-2202)ctC>ctG	p.L734L	ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Silent_p.L735L|ABCA2_ENST00000265662.5_Silent_p.L735L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	734					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCACCTCCTTGAGCCGGTGCT	0.692																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(2203-2205)ctC>ctG		ATP-binding cassette, sub-family A (ABC1), member 2							26.0	28.0	28.0					9																	139912245		2045	4169	6214	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139912245G>C	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.2202C>G	9.37:g.139912245G>C						ABCA2_ENST00000371605.3_Silent_p.L734L|ABCA2_ENST00000341511.6_Silent_p.L735L	p.L735L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	16	2352	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	734					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.2205C>G																																																																																					0.692	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		5	15	0	0	0	0.184627	0	5	15				
TNFRSF25	8718	broad.mit.edu	37	1	6524760	6524760	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:6524760C>G	ENST00000356876.3	-	4	402	c.315G>C	c.(313-315)gaG>gaC	p.E105D	TNFRSF25_ENST00000351959.5_Missense_Mutation_p.E105D|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.E60D|TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000377782.3_Missense_Mutation_p.E105D	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	105					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAACAGTTCTCCAGCGCCA	0.607																																						ENST00000377782.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10						c.(313-315)gaG>gaC		tumor necrosis factor receptor superfamily, member 25							38.0	40.0	39.0					1																	6524760		2203	4300	6503	SO:0001583	missense	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6524760C>G	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.315G>C	1.37:g.6524760C>G	ENSP00000349341:p.Glu105Asp					TNFRSF25_ENST00000356876.3_Missense_Mutation_p.E105D|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.E105D|TNFRSF25_ENST00000351748.3_Intron|TNFRSF25_ENST00000461703.2_5'UTR|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.E60D	p.E105D	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	4	382	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	105					B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Missense_Mutation	SNP	ENST00000356876.3	37	c.315G>C	CCDS71.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.322897	0.60634	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000348333	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	5.5	5.5	0.81552	TNFR/CD27/30/40/95 cysteine-rich region (3);	2.551920	0.02287	U	0.069978	T	0.73946	0.3652	L	0.50333	1.59	0.31334	N	0.684511	P;P;B;P	0.43094	0.799;0.646;0.336;0.514	B;B;B;B	0.41691	0.364;0.213;0.275;0.115	T	0.60642	-0.7223	10	0.17832	T	0.49	-10.3759	12.6444	0.56725	0.0:0.8339:0.1661:0.0	.	105;60;105;105	Q93038-11;Q93038-9;Q93038-10;Q93038	.;.;.;TNR25_HUMAN	D	105;105;105;60	ENSP00000349341:E105D;ENSP00000367013:E105D;ENSP00000337713:E105D;ENSP00000314451:E60D	ENSP00000314451:E60D	E	-	3	2	TNFRSF25	6447347	0.890000	0.30428	0.999000	0.59377	0.907000	0.53573	1.473000	0.35387	2.553000	0.86117	0.637000	0.83480	GAG		0.607	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		17	24	0	0	0	0.520397	0	17	24				
FAM135B	51059	broad.mit.edu	37	8	139268962	139268962	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:139268962A>G	ENST00000395297.1	-	5	508	c.338T>C	c.(337-339)gTg>gCg	p.V113A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	113										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGCAGATCCACCTTGAGTTG	0.438										HNSCC(54;0.14)																												ENST00000395297.1																			0				NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238						c.(337-339)gTg>gCg		family with sequence similarity 135, member B							115.0	108.0	110.0					8																	139268962		1955	4157	6112	SO:0001583	missense	51059							g.chr8:139268962A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.338T>C	8.37:g.139268962A>G	ENSP00000378710:p.Val113Ala	HNSCC(54;0.14)					p.V113A	NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		5	508	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		113					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.338T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	20.5	4.006905	0.74932	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15952	2.38	5.35	5.35	0.76521	.	0.085622	0.47852	D	0.000218	T	0.17959	0.0431	L	0.39898	1.24	0.44061	D	0.996802	P	0.42456	0.78	B	0.40602	0.334	T	0.01345	-1.1379	10	0.72032	D	0.01	-7.4079	14.7999	0.69906	1.0:0.0:0.0:0.0	.	113	Q49AJ0	F135B_HUMAN	A	113	ENSP00000378710:V113A	ENSP00000160713:V113A	V	-	2	0	FAM135B	139338144	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.084000	0.94076	2.150000	0.67090	0.533000	0.62120	GTG		0.438	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		3	25	0	0	0	0.115264	0	3	25				
OR5T1	390155	broad.mit.edu	37	11	56043262	56043262	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:56043262A>G	ENST00000313033.2	+	1	234	c.148A>G	c.(148-150)Act>Gct	p.T50A		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T50P(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTATCTATTCACTCTAATAGG	0.338																																						ENST00000313033.2																			1	Substitution - Missense(1)	p.T50P(1)	breast(1)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43						c.(148-150)Act>Gct		olfactory receptor, family 5, subfamily T, member 1							71.0	73.0	73.0					11																	56043262		2201	4296	6497	SO:0001583	missense	390155				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56043262A>G	AB065962	CCDS31525.1	11q11	2012-08-09		2004-03-10	ENSG00000181698	ENSG00000181698		"""GPCR / Class A : Olfactory receptors"""	14821	protein-coding gene	gene with protein product				OR5T1P			Standard	NM_001004745		Approved		uc001nio.1	Q8NG75	OTTHUMG00000166853	ENST00000313033.2:c.148A>G	11.37:g.56043262A>G	ENSP00000323612:p.Thr50Ala						p.T50A	NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN			1	234	+	Esophageal squamous(21;0.00448)		50					B2RNM9	Missense_Mutation	SNP	ENST00000313033.2	37	c.148A>G	CCDS31525.1	.	.	.	.	.	.	.	.	.	.	A	14.58	2.577038	0.45902	.	.	ENSG00000181698	ENST00000313033	T	0.00504	6.94	3.63	2.45	0.29901	.	0.000000	0.44902	D	0.000417	T	0.01092	0.0036	M	0.62266	1.93	0.09310	N	1	D	0.67145	0.996	D	0.64595	0.927	T	0.44742	-0.9308	10	0.72032	D	0.01	.	8.0851	0.30767	0.7993:0.0:0.0:0.2007	.	50	Q8NG75	OR5T1_HUMAN	A	50	ENSP00000323612:T50A	ENSP00000323612:T50A	T	+	1	0	OR5T1	55799838	0.003000	0.15002	0.002000	0.10522	0.031000	0.12232	1.760000	0.38430	0.532000	0.28657	0.386000	0.25728	ACT		0.338	OR5T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391600.1	NM_001004745		19	49	0	0	0	0.557998	0	19	49				
ANKRD1	27063	broad.mit.edu	37	10	92678707	92678707	+	Missense_Mutation	SNP	G	G	A	rs145387010	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:92678707G>A	ENST00000371697.3	-	4	616	c.368C>T	c.(367-369)aCg>aTg	p.T123M		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	123					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTTCAGAAACGTAGGCACATC	0.368													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12026	0.0		0.0	False		,,,				2504	0.0					ENST00000371697.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27						c.(367-369)aCg>aTg		ankyrin repeat domain 1 (cardiac muscle)		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	84.0	93.0	90.0		368	-2.3	0.0	10	dbSNP_134	90	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ANKRD1	NM_014391.2	81	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	123/320	92678707	3,13003	2203	4300	6503	SO:0001583	missense	27063				cellular lipid metabolic process|defense response|signal transduction		DNA binding	g.chr10:92678707G>A	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.368C>T	10.37:g.92678707G>A	ENSP00000360762:p.Thr123Met						p.T123M	NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN			4	616	-		Colorectal(252;0.0475)	123					Q96LE7	Missense_Mutation	SNP	ENST00000371697.3	37	c.368C>T	CCDS7412.1	.	.	.	.	.	.	.	.	.	.	G	3.022	-0.201544	0.06219	2.27E-4	2.33E-4	ENSG00000148677	ENST00000371697	T	0.69175	-0.38	5.65	-2.32	0.06745	.	1.180770	0.05944	N	0.637544	T	0.45736	0.1357	N	0.21240	0.645	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.23190	-1.0195	10	0.39692	T	0.17	.	1.1149	0.01712	0.3298:0.1709:0.3088:0.1905	.	123	Q15327	ANKR1_HUMAN	M	123	ENSP00000360762:T123M	ENSP00000360762:T123M	T	-	2	0	ANKRD1	92668687	0.000000	0.05858	0.000000	0.03702	0.094000	0.18550	-0.356000	0.07661	-0.286000	0.09076	-1.815000	0.00603	ACG		0.368	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391		8	35	0	0	0	0.278610	0	8	35				
CEMIP	57214	broad.mit.edu	37	15	81181917	81181917	+	Missense_Mutation	SNP	G	G	A	rs199832741		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:81181917G>A	ENST00000394685.3	+	10	1489	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	KIAA1199_ENST00000220244.3_Missense_Mutation_p.R357H|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R357H			Q8WUJ3	CEMIP_HUMAN		357	Necessary for its endoplasmic reticulum (ER) retention and interaction with HSPA5.				hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATATGCAATCGTCCCATTGAT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		21830	0.0		0.001	False		,,,				2504	0.0					ENST00000394685.3																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1069-1071)cGt>cAt		KIAA1199							96.0	94.0	95.0					15																	81181917		2203	4300	6503	SO:0001583	missense	57214							g.chr15:81181917G>A																												ENST00000394685.3:c.1070G>A	15.37:g.81181917G>A	ENSP00000378177:p.Arg357His					KIAA1199_ENST00000220244.3_Missense_Mutation_p.R357H|KIAA1199_ENST00000356249.5_Missense_Mutation_p.R357H	p.R357H			Q8WUJ3	K1199_HUMAN			10	1489	+			357					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	ENST00000394685.3	37	c.1070G>A	CCDS10315.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.151	0.395989	0.11638	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.16897	2.31;2.31;2.31	5.84	3.98	0.46160	.	0.303270	0.32273	N	0.006325	T	0.14614	0.0353	L	0.56769	1.78	0.23386	N	0.997785	B	0.16166	0.016	B	0.12837	0.008	T	0.32877	-0.9890	10	0.13470	T	0.59	-23.2013	7.0073	0.24844	0.3698:0.0:0.6302:0.0	.	357	Q8WUJ3	K1199_HUMAN	H	357	ENSP00000220244:R357H;ENSP00000378177:R357H;ENSP00000348583:R357H	ENSP00000220244:R357H	R	+	2	0	KIAA1199	78968972	0.981000	0.34729	0.019000	0.16419	0.008000	0.06430	4.404000	0.59735	0.824000	0.34613	-0.142000	0.14014	CGT		0.393	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			13	41	0	0	0	0.435327	0	13	41				
BUB1	699	broad.mit.edu	37	2	111419371	111419371	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:111419371C>T	ENST00000302759.6	-	10	1123	c.1005G>A	c.(1003-1005)ctG>ctA	p.L335L	BUB1_ENST00000409311.1_Silent_p.L335L|BUB1_ENST00000535254.1_Silent_p.L315L	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	335					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATGGCGCTCTCAGTTCCTGCT	0.453																																						ENST00000535254.1																			0				breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45						c.(943-945)ctG>ctA		BUB1 mitotic checkpoint serine/threonine kinase							131.0	126.0	127.0					2																	111419371		2203	4300	6503	SO:0001819	synonymous_variant	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111419371C>T	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1005G>A	2.37:g.111419371C>T						BUB1_ENST00000302759.6_Silent_p.L335L|BUB1_ENST00000409311.1_Silent_p.L335L	p.L315L	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	9	1012	-		Ovarian(717;0.0822)	335					E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Silent	SNP	ENST00000302759.6	37	c.945G>A	CCDS33273.1																																																																																				0.453	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		25	48	0	0	0	0.639603	0	25	48				
SALL1	6299	broad.mit.edu	37	16	51175913	51175913	+	Missense_Mutation	SNP	C	C	T	rs529479120		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:51175913C>T	ENST00000251020.4	-	2	253	c.220G>A	c.(220-222)Gta>Ata	p.V74I	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	74					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTCATTTACGATTAAAACT	0.448																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000251020.4																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(220-222)Gta>Ata		spalt-like transcription factor 1							79.0	87.0	84.0					16																	51175913		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175913C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.220G>A	16.37:g.51175913C>T	ENSP00000251020:p.Val74Ile					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	p.V74I	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	253	-		all_cancers(37;0.0322)	74					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.220G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200859	0.58234	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.45276	0.9	5.26	2.28	0.28536	.	0.108661	0.64402	N	0.000007	T	0.34774	0.0909	L	0.51853	1.615	0.80722	D	1	B	0.19817	0.039	B	0.12156	0.007	T	0.11179	-1.0598	10	0.44086	T	0.13	.	10.2029	0.43097	0.0:0.7952:0.0:0.2048	.	74	Q9NSC2	SALL1_HUMAN	I	74	ENSP00000251020:V74I	ENSP00000251020:V74I	V	-	1	0	SALL1	49733414	1.000000	0.71417	0.932000	0.37286	0.977000	0.68977	2.735000	0.47377	0.228000	0.21019	0.555000	0.69702	GTA		0.448	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		27	57	0	0	0	0.667858	0	27	57				
TRIM8	81603	broad.mit.edu	37	10	104416918	104416918	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:104416918C>T	ENST00000302424.7	+	6	1585	c.1463C>T	c.(1462-1464)cCc>cTc	p.P488L		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	488					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAGCCCTACCCCCGCTCCGGC	0.657																																						ENST00000302424.6																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1462-1464)cCc>cTc		tripartite motif containing 8							46.0	46.0	46.0					10																	104416918		2203	4300	6503	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104416918C>T	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.1463C>T	10.37:g.104416918C>T	ENSP00000302120:p.Pro488Leu						p.P488L	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	6	1585	+		Colorectal(252;0.122)	488					A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.1463C>T	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500837	0.85176	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.81247	-1.47	5.43	5.43	0.79202	.	0.056491	0.64402	D	0.000001	D	0.84284	0.5438	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.86585	0.1856	10	0.87932	D	0	.	19.2308	0.93839	0.0:1.0:0.0:0.0	.	488	Q9BZR9	TRIM8_HUMAN	L	488;487	ENSP00000302120:P488L	ENSP00000302120:P488L	P	+	2	0	TRIM8	104406908	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.685000	0.68204	2.558000	0.86282	0.491000	0.48974	CCC		0.657	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		10	26	0	0	0	0.335167	0	10	26				
LINC00173	100287569	broad.mit.edu	37	12	116972499	116972499	+	RNA	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:116972499C>T	ENST00000480237.1	+	0	770					NR_027345.1		Q6ZV60	YL023_HUMAN	long intergenic non-protein coding RNA 173																		GTACAACTGACAGTGCCATCA	0.443																																						ENST00000480237.1																			0																				161.0	124.0	137.0					12																	116972499		2203	4300	6503			100287569							g.chr12:116972499C>T	AC090670, BC038547, BC121822		12q24.22	2012-10-12	2011-08-11	2011-08-11	ENSG00000196668	ENSG00000196668		"""Long non-coding RNAs"""	33791	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 173"""	NCRNA00173			Standard	NR_027345		Approved	FLJ42957	uc001tvx.1	Q6ZV60	OTTHUMG00000157726		12.37:g.116972499C>T								NR_027345.1						0	770	+									RNA	SNP	ENST00000480237.1	37																																																																																						0.443	LINC00173-002	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000349521.1	NR_027345		19	32	0	0	0	0.575678	0	19	32				
GPBP1	65056	broad.mit.edu	37	5	56546873	56546873	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:56546873G>C	ENST00000506184.2	+	10	2170	c.1065G>C	c.(1063-1065)gaG>gaC	p.E355D	GPBP1_ENST00000538707.1_Missense_Mutation_p.E362D|GPBP1_ENST00000454432.2_Missense_Mutation_p.E375D|GPBP1_ENST00000511209.1_Missense_Mutation_p.E347D|GPBP1_ENST00000514387.2_Missense_Mutation_p.E184D|GPBP1_ENST00000424459.3_Missense_Mutation_p.E375D|GPBP1_ENST00000264779.6_Missense_Mutation_p.E362D			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	355					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TTCCTCAAGAGAATGGCAATG	0.398																																						ENST00000424459.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(1123-1125)gaG>gaC		GC-rich promoter binding protein 1							107.0	100.0	102.0					5																	56546873		2202	4300	6502	SO:0001583	missense	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56546873G>C		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.1065G>C	5.37:g.56546873G>C	ENSP00000421202:p.Glu355Asp					GPBP1_ENST00000514387.2_Missense_Mutation_p.E184D|GPBP1_ENST00000538707.1_Missense_Mutation_p.E362D|GPBP1_ENST00000511209.1_Missense_Mutation_p.E347D|GPBP1_ENST00000506184.2_Missense_Mutation_p.E355D|GPBP1_ENST00000454432.2_Missense_Mutation_p.E375D|GPBP1_ENST00000264779.6_Missense_Mutation_p.E362D	p.E375D	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	11	2399	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	355					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	c.1125G>C	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003738	0.74932	.	.	ENSG00000062194	ENST00000424459;ENST00000514387;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T;T	0.50001	1.74;0.76;1.75;1.74;1.73;1.75;1.74	5.87	3.13	0.36017	.	0.157611	0.56097	D	0.000026	T	0.37732	0.1014	L	0.34521	1.04	0.38893	D	0.957153	D;B;B;B	0.56521	0.976;0.02;0.27;0.02	P;B;B;B	0.48400	0.576;0.034;0.147;0.023	T	0.18777	-1.0326	10	0.33141	T	0.24	-11.9697	5.6453	0.17586	0.2124:0.0:0.649:0.1385	.	375;362;347;355	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	D	375;184;355;375;347;362;362	ENSP00000401596:E375D;ENSP00000421709:E184D;ENSP00000421202:E355D;ENSP00000403522:E375D;ENSP00000422337:E347D;ENSP00000264779:E362D;ENSP00000440090:E362D	ENSP00000264779:E362D	E	+	3	2	GPBP1	56582630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.309000	0.43699	0.815000	0.34398	0.643000	0.83706	GAG		0.398	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		12	38	0	0	0	0.387290	0	12	38				
FBP1	2203	broad.mit.edu	37	9	97369181	97369181	+	Silent	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:97369181A>G	ENST00000375326.4	-	5	817	c.621T>C	c.(619-621)ggT>ggC	p.G207G	FBP1_ENST00000415431.1_Silent_p.G207G	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	207					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGTAGATTTTACCTTTCTTTT	0.512																																					Ovarian(142;590 2466 25593 44496)	ENST00000415431.1																			0				kidney(1)|liver(1)|lung(1)	3						c.(619-621)ggT>ggC		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						148.0	137.0	141.0					9																	97369181		2203	4300	6503	SO:0001819	synonymous_variant	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97369181A>G	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.621T>C	9.37:g.97369181A>G						FBP1_ENST00000375326.4_Silent_p.G207G	p.G207G	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN			6	850	-		Acute lymphoblastic leukemia(62;0.136)	207					O75571|Q53F94|Q96E46	Silent	SNP	ENST00000375326.4	37	c.621T>C	CCDS6712.1																																																																																				0.512	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507		39	45	0	0	0	0.819951	0	39	45				
GAP43	2596	broad.mit.edu	37	3	115395076	115395076	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:115395076G>C	ENST00000305124.6	+	2	613	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	GAP43_ENST00000393780.3_Missense_Mutation_p.E119Q	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	83					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GAAGAAGGGAGAAGGCACCAC	0.562																																						ENST00000393780.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32						c.(355-357)Gaa>Caa		growth associated protein 43							73.0	71.0	72.0					3																	115395076		2203	4300	6503	SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395076G>C		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.247G>C	3.37:g.115395076G>C	ENSP00000305010:p.Glu83Gln					GAP43_ENST00000305124.6_Missense_Mutation_p.E83Q	p.E119Q	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	3	823	+			83					A8K0Y4	Missense_Mutation	SNP	ENST00000305124.6	37	c.355G>C	CCDS33830.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100144	0.76983	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.53857	0.6;0.6	4.62	4.62	0.57501	Neuromodulin (GAP-43), C-terminal (1);	0.181343	0.46442	D	0.000294	T	0.64483	0.2602	L	0.61218	1.895	0.48341	D	0.999635	D;P	0.58970	0.984;0.901	P;P	0.55303	0.773;0.583	T	0.68150	-0.5485	10	0.59425	D	0.04	-0.1211	16.9865	0.86341	0.0:0.0:1.0:0.0	.	119;83	A8K0Y4;P17677	.;NEUM_HUMAN	Q	83;119	ENSP00000305010:E83Q;ENSP00000377372:E119Q	ENSP00000305010:E83Q	E	+	1	0	GAP43	116877766	1.000000	0.71417	0.994000	0.49952	0.889000	0.51656	5.651000	0.67951	2.547000	0.85894	0.655000	0.94253	GAA		0.562	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		10	21	0	0	0	0.335167	0	10	21				
MRPL45	84311	broad.mit.edu	37	17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	rs139299251		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582																																						ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(43-45)Ttt>Gtt		mitochondrial ribosomal protein L45							75.0	94.0	88.0					17																	36453192		692	1591	2283	SO:0001583	missense	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36453192T>G	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.43T>G	17.37:g.36453192T>G	ENSP00000308901:p.Phe15Val						p.F15V	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			1	204	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	15					A1L436|Q6ZMJ5	Missense_Mutation	SNP	ENST00000312513.5	37	c.43T>G	CCDS11326.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.932710	0.00488	.	.	ENSG00000174100	ENST00000312513	T	0.27256	1.68	4.28	2.13	0.27403	.	.	.	.	.	T	0.06690	0.0171	N	0.00707	-1.245	0.09310	N	0.999992	B	0.02656	0.0	B	0.01281	0.0	T	0.32693	-0.9897	9	0.31617	T	0.26	.	3.1875	0.06606	0.249:0.0:0.5488:0.2022	.	15	Q9BRJ2	RM45_HUMAN	V	15	ENSP00000308901:F15V	ENSP00000308901:F15V	F	+	1	0	MRPL45	.	0.230000	0.23740	0.745000	0.31077	0.088000	0.18126	0.728000	0.26013	0.123000	0.18342	-1.308000	0.01314	TTT		0.582	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		5	50	0	0	0	0.307466	0	5	50				
KRT78	196374	broad.mit.edu	37	12	53238435	53238435	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:53238435C>G	ENST00000304620.4	-	5	892	c.829G>C	c.(829-831)Gac>Cac	p.D277H	KRT78_ENST00000359499.4_Missense_Mutation_p.D167H	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	277	Linker 12.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTGCTGAAGTCCAGGTAGCGG	0.627																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(499-501)Gac>Cac		keratin 78							115.0	90.0	98.0					12																	53238435		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238435C>G	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.829G>C	12.37:g.53238435C>G	ENSP00000306261:p.Asp277His					KRT78_ENST00000304620.4_Missense_Mutation_p.D277H	p.D167H			Q8N1N4	K2C78_HUMAN			5	510	-			277			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.499G>C	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907792	0.52333	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860;ENST00000547110	D;D;D	0.92647	-3.08;-3.08;-3.08	5.1	4.19	0.49359	Filament (1);	.	.	.	.	D	0.96608	0.8893	H	0.94264	3.515	0.36368	D	0.861118	D	0.89917	1.0	D	0.83275	0.996	D	0.97979	1.0348	9	0.87932	D	0	.	9.4238	0.38567	0.0:0.8471:0.0:0.1529	.	277	Q8N1N4	K2C78_HUMAN	H	167;277;48;48	ENSP00000352479:D167H;ENSP00000306261:D277H;ENSP00000447817:D48H	ENSP00000306261:D277H	D	-	1	0	KRT78	51524702	1.000000	0.71417	0.978000	0.43139	0.033000	0.12548	4.047000	0.57383	2.525000	0.85131	0.563000	0.77884	GAC		0.627	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		23	39	0	0	0	0.608945	0	23	39				
NAA30	122830	broad.mit.edu	37	14	57857726	57857726	+	Silent	SNP	T	T	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:57857726T>G	ENST00000556492.1	+	2	205	c.51T>G	c.(49-51)ccT>ccG	p.P17P	NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN	N(alpha)-acetyltransferase 30, NatC catalytic subunit	17	Pro-rich.				metabolic process (GO:0008152)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						CACCAGCACCTCCGGCCCCGG	0.721																																						ENST00000556492.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						c.(49-51)ccT>ccG		N(alpha)-acetyltransferase 30, NatC catalytic subunit							14.0	17.0	16.0					14																	57857726		2153	4182	6335	SO:0001819	synonymous_variant	122830					cytoplasm	peptide alpha-N-acetyltransferase activity	g.chr14:57857726T>G	AK092674	CCDS32088.1	14q22.2	2010-05-07	2010-01-14	2010-01-14		ENSG00000139977	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	19844	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 35"", ""N-acetyltransferase 12"", ""N-acetyltransferase 12 (GCN5-related, putative)"""	C14orf35, NAT12		19660095	Standard	NM_001011713		Approved	FLJ35355, MAK3, Mak3p	uc001xcx.4	Q147X3		ENST00000556492.1:c.51T>G	14.37:g.57857726T>G						NAA30_ENST00000554703.1_Intron|NAA30_ENST00000555166.1_Intron	p.P17P	NM_001011713.2	NP_001011713.2	Q147X3	NAA30_HUMAN			2	205	+			17			Pro-rich.		Q0IIN2	Silent	SNP	ENST00000556492.1	37	c.51T>G	CCDS32088.1																																																																																				0.721	NAA30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412925.1	NM_001011713		4	10	0	0	0	0.150653	0	4	10				
MAP7	9053	broad.mit.edu	37	6	136687111	136687111	+	Silent	SNP	C	C	T	rs143331676	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:136687111C>T	ENST00000354570.3	-	10	1445	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	MAP7_ENST00000454590.1_Silent_p.P367P|MAP7_ENST00000432797.2_Silent_p.P199P|MAP7_ENST00000438100.2_Silent_p.P330P|RP3-406A7.3_ENST00000571188.1_RNA|MAP7_ENST00000544465.1_Silent_p.P330P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	345	Pro-rich.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGGAGGATGTCGGTCTGGGTG	0.592													C|||	3	0.000599042	0.0023	0.0	5008	,	,		16974	0.0		0.0	False		,,,				2504	0.0					ENST00000354570.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1033-1035)ccG>ccA		microtubule-associated protein 7		C	,,,,,,,,,	6,4400	9.9+/-24.2	0,6,2197	64.0	61.0	62.0		1101,1125,990,1101,990,924,753,597,597,1035	-11.6	0.0	6	dbSNP_134	62	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MAP7	NM_001198608.1,NM_001198609.1,NM_001198611.1,NM_001198614.1,NM_001198615.1,NM_001198616.1,NM_001198617.1,NM_001198618.1,NM_001198619.1,NM_003980.4	,,,,,,,,,	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	,,,,,,,,,	367/772,375/780,330/735,367/772,330/735,308/713,251/656,199/604,199/604,345/750	136687111	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136687111C>T	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.1035G>A	6.37:g.136687111C>T						MAP7_ENST00000454590.1_Silent_p.P367P|MAP7_ENST00000432797.2_Silent_p.P199P|MAP7_ENST00000544465.1_Silent_p.P330P|MAP7_ENST00000438100.2_Silent_p.P330P	p.P345P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	10	1445	-	Colorectal(23;0.24)		345			Pro-rich.		B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.1035G>A	CCDS5178.1																																																																																				0.592	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	NM_003980		15	42	0	0	0	0.520397	0	15	42				
GUCD1	83606	broad.mit.edu	37	22	24943916	24943916	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:24943916C>A	ENST00000407471.3	-	3	444	c.254G>T	c.(253-255)tGt>tTt	p.C85F	GUCD1_ENST00000435822.1_Missense_Mutation_p.C85F|GUCD1_ENST00000447813.2_Missense_Mutation_p.C85F|GUCD1_ENST00000404664.3_Missense_Mutation_p.C141F|GUCD1_ENST00000402766.1_Missense_Mutation_p.C85F|GUCD1_ENST00000490922.1_5'UTR	NM_001284251.1	NP_001271180.1	Q96NT3	GUCD1_HUMAN	guanylyl cyclase domain containing 1	85																	GGTCTGGGTACAGAAGCGGTG	0.602																																						ENST00000435822.1																			0											c.(253-255)tGt>tTt		guanylyl cyclase domain containing 1							119.0	92.0	101.0					22																	24943916		2203	4300	6503	SO:0001583	missense	83606							g.chr22:24943916C>A	AK054681	CCDS33621.1, CCDS63426.1, CCDS63427.1, CCDS74831.1, CCDS74832.1, CCDS74833.1	22q11.2	2012-11-13	2012-11-13	2012-11-13	ENSG00000138867	ENSG00000138867			14237	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 13"""	C22orf13		12477932	Standard	XM_005261761		Approved	MGC1842, LLN4	uc003aah.2	Q96NT3	OTTHUMG00000150728	ENST00000407471.3:c.254G>T	22.37:g.24943916C>A	ENSP00000386076:p.Cys85Phe					GUCD1_ENST00000407471.3_Missense_Mutation_p.C85F|GUCD1_ENST00000447813.2_Missense_Mutation_p.C85F|GUCD1_ENST00000402766.1_Missense_Mutation_p.C85F|GUCD1_ENST00000404664.3_Missense_Mutation_p.C141F|GUCD1_ENST00000490922.1_5'UTR	p.C85F	NM_031444.2	NP_113632.2					3	578	-								B5MCB8|B5MCL7|Q96Q79|Q9BU32	Missense_Mutation	SNP	ENST00000407471.3	37	c.254G>T	CCDS33621.1	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172434	0.21704	.	.	ENSG00000138867	ENST00000407471;ENST00000435822;ENST00000404664;ENST00000447813;ENST00000402766;ENST00000407973	.	.	.	5.28	5.28	0.74379	.	0.204717	0.52532	D	0.000063	T	0.56978	0.2022	N	0.19112	0.55	0.80722	D	1	D;B;B;P;B	0.61080	0.989;0.178;0.145;0.887;0.035	D;B;B;P;B	0.63488	0.915;0.028;0.069;0.676;0.052	T	0.49934	-0.8886	9	0.02654	T	1	-23.9015	17.8899	0.88869	0.0:1.0:0.0:0.0	.	85;141;149;85;85	E9PGZ7;B5MCL7;B4DH83;B4DL90;Q96NT3	.;.;.;.;CV013_HUMAN	F	85;85;141;85;85;85	.	ENSP00000381297:C85F	C	-	2	0	C22orf13	23273916	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.644000	0.67902	2.472000	0.83506	0.655000	0.94253	TGT		0.602	GUCD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319819.1	NM_031444		19	35	1	0	5.35267e-07	0.557998	5.65853e-07	19	35				
KIAA1217	56243	broad.mit.edu	37	10	24834871	24834871	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:24834871C>T	ENST00000376454.3	+	21	5480	c.5450C>T	c.(5449-5451)tCt>tTt	p.S1817F	KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1248F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1138F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1223F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1817	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				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						TCTCTGCCCTCTTCTAGTGGT	0.512																																						ENST00000376454.3																			0				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						c.(5449-5451)tCt>tTt		KIAA1217							174.0	174.0	174.0					10																	24834871		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24834871C>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.5450C>T	10.37:g.24834871C>T	ENSP00000365637:p.Ser1817Phe					KIAA1217_ENST00000376452.3_Missense_Mutation_p.S1248F|KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S1138F|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S1223F	p.S1817F	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			21	5480	+			1817			Ser-rich.		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.5450C>T	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780767	0.49891	.	.	ENSG00000120549	ENST00000376462;ENST00000458595;ENST00000376454;ENST00000376452;ENST00000450158	T;T;T;T	0.35973	1.28;1.28;1.74;1.38	5.53	5.53	0.82687	.	0.280765	0.32785	N	0.005655	T	0.34164	0.0888	L	0.40543	1.245	0.19775	N	0.999957	P;B;P;P	0.41569	0.547;0.275;0.755;0.547	B;B;B;B	0.41764	0.366;0.094;0.347;0.366	T	0.34625	-0.9821	10	0.59425	D	0.04	.	13.7124	0.62675	0.0:0.9261:0.0:0.0739	.	1223;1248;1817;1218	Q5T5P2-7;A6NLF3;Q5T5P2;Q5T5P2-2	.;.;SKT_HUMAN;.	F	1138;1223;1817;1248;1406	ENSP00000365645:S1138F;ENSP00000392625:S1223F;ENSP00000365637:S1817F;ENSP00000365635:S1248F	ENSP00000365635:S1248F	S	+	2	0	KIAA1217	24874877	0.999000	0.42202	0.885000	0.34714	0.988000	0.76386	3.910000	0.56371	2.598000	0.87819	0.650000	0.86243	TCT		0.512	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		43	91	0	0	0	0.840704	0	43	91				
DNAJB8	165721	broad.mit.edu	37	3	128181438	128181438	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:128181438C>T	ENST00000469083.1	-	2	3208	c.651G>A	c.(649-651)tcG>tcA	p.S217S	DNAJB8_ENST00000319153.3_Silent_p.S217S|DNAJB8-AS1_ENST00000471626.1_RNA			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	217					chaperone-mediated protein folding (GO:0061077)|negative regulation of inclusion body assembly (GO:0090084)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|protein binding involved in protein folding (GO:0044183)|unfolded protein binding (GO:0051082)			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCACAGTCACCGACTTGAGCT	0.632																																						ENST00000469083.1																			0				kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11						c.(649-651)tcG>tcA		DnaJ (Hsp40) homolog, subfamily B, member 8							173.0	137.0	149.0					3																	128181438		2203	4300	6503	SO:0001819	synonymous_variant	165721				protein folding		heat shock protein binding|unfolded protein binding	g.chr3:128181438C>T		CCDS3048.1	3q21.3	2014-01-21			ENSG00000179407	ENSG00000179407		"""Heat shock proteins / DNAJ (HSP40)"""	23699	protein-coding gene	gene with protein product		611337					Standard	NM_153330		Approved	MGC33884, CT156	uc003ekk.2	Q8NHS0	OTTHUMG00000159690	ENST00000469083.1:c.651G>A	3.37:g.128181438C>T						DNAJB8_ENST00000319153.3_Silent_p.S217S	p.S217S			Q8NHS0	DNJB8_HUMAN		GBM - Glioblastoma multiforme(114;0.177)	2	3208	-			217					B3KWV7	Silent	SNP	ENST00000469083.1	37	c.651G>A	CCDS3048.1																																																																																				0.632	DNAJB8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356933.1	NM_153330		28	67	0	0	0	0.750413	0	28	67				
SLIT2	9353	broad.mit.edu	37	4	20258327	20258327	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:20258327C>T	ENST00000504154.1	+	2	464	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SLIT2_ENST00000503823.1_Missense_Mutation_p.T71M|SLIT2_ENST00000503837.1_Missense_Mutation_p.T71M|SLIT2_ENST00000273739.5_Missense_Mutation_p.T71M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	71					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.T71M(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACAAGAATTACGAAGACAGAT	0.294																																						ENST00000504154.1																			1	Substitution - Missense(1)	p.T71M(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(211-213)aCg>aTg		slit homolog 2 (Drosophila)							86.0	93.0	91.0					4																	20258327		2203	4297	6500	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20258327C>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.212C>T	4.37:g.20258327C>T	ENSP00000422591:p.Thr71Met					SLIT2_ENST00000273739.5_Missense_Mutation_p.T71M|SLIT2_ENST00000503823.1_Missense_Mutation_p.T71M|SLIT2_ENST00000503837.1_Missense_Mutation_p.T71M	p.T71M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			2	464	+			71					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.212C>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.802018	0.70682	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837;ENST00000508824	T;T;T;T;D	0.83755	1.79;1.79;1.79;1.79;-1.76	5.65	5.65	0.86999	.	0.053525	0.85682	D	0.000000	D	0.87708	0.6245	L	0.53617	1.68	0.58432	D	0.999997	D;D	0.76494	0.999;0.99	P;P	0.57846	0.828;0.806	D	0.85268	0.1054	10	0.34782	T	0.22	.	20.1057	0.97893	0.0:1.0:0.0:0.0	.	71;71	O94813-3;O94813	.;SLIT2_HUMAN	M	71;71;71;71;71;32	ENSP00000427548:T71M;ENSP00000422591:T71M;ENSP00000273739:T71M;ENSP00000422261:T71M;ENSP00000426356:T32M	ENSP00000273739:T71M	T	+	2	0	SLIT2	19867425	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	7.445000	0.80570	2.827000	0.97445	0.650000	0.86243	ACG		0.294	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			14	28	0	0	0	0.500413	0	14	28				
IRF6	3664	broad.mit.edu	37	1	209969813	209969813	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:209969813G>A	ENST00000367021.3	-	4	431	c.259C>T	c.(259-261)Ctc>Ttc	p.L87F	IRF6_ENST00000542854.1_5'UTR	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	87					cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTCTTATTGAGAGCACAGCGC	0.527										HNSCC(57;0.16)																												ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28						c.(259-261)Ctc>Ttc		interferon regulatory factor 6							115.0	96.0	102.0					1																	209969813		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209969813G>A	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.259C>T	1.37:g.209969813G>A	ENSP00000355988:p.Leu87Phe	HNSCC(57;0.16)				IRF6_ENST00000542854.1_5'UTR	p.L87F	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	4	431	-			87					B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.259C>T	CCDS1492.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206287	0.79127	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.99098	-5.42;-5.42	5.63	5.63	0.86233	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.000000	0.85682	D	0.000000	D	0.99515	0.9827	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98395	1.0565	9	.	.	.	.	19.7096	0.96089	0.0:0.0:1.0:0.0	.	87	O14896	IRF6_HUMAN	F	87	ENSP00000355988:L87F;ENSP00000403855:L87F	.	L	-	1	0	IRF6	208036436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.186000	0.72026	2.652000	0.90054	0.655000	0.94253	CTC		0.527	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		18	35	0	0	0	0.539581	0	18	35				
PLEC	5339	broad.mit.edu	37	8	144992793	144992793	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:144992793G>A	ENST00000322810.4	-	32	11776	c.11607C>T	c.(11605-11607)ttC>ttT	p.F3869F	PLEC_ENST00000357649.2_Silent_p.F3736F|PLEC_ENST00000345136.3_Silent_p.F3732F|PLEC_ENST00000356346.3_Silent_p.F3718F|PLEC_ENST00000354589.3_Silent_p.F3732F|PLEC_ENST00000436759.2_Silent_p.F3759F|PLEC_ENST00000527096.1_Silent_p.F3755F|PLEC_ENST00000354958.2_Silent_p.F3710F|PLEC_ENST00000398774.2_Silent_p.F3700F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3869	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCCAGCAGGAAGCCTGTGG	0.672																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(11605-11607)ttC>ttT		plectin							21.0	26.0	25.0					8																	144992793		1792	3815	5607	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992793G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11607C>T	8.37:g.144992793G>A						PLEC_ENST00000345136.3_Silent_p.F3732F|PLEC_ENST00000398774.2_Silent_p.F3700F|PLEC_ENST00000354958.2_Silent_p.F3710F|PLEC_ENST00000356346.3_Silent_p.F3718F|PLEC_ENST00000436759.2_Silent_p.F3759F|PLEC_ENST00000527096.1_Silent_p.F3755F|PLEC_ENST00000357649.2_Silent_p.F3736F|PLEC_ENST00000354589.3_Silent_p.F3732F	p.F3869F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	11776	-			3869			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.11607C>T	CCDS43772.1																																																																																				0.672	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	33	0	0	0	0.387290	0	10	33				
RIMS1	22999	broad.mit.edu	37	6	72889449	72889449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:72889449C>T	ENST00000521978.1	+	5	643	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R215*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.R215*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R215*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R215*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	215					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACTCCAAGAGCGATCGCGGTC	0.587																																						ENST00000264839.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.(643-645)Cga>Tga		regulating synaptic membrane exocytosis 1							74.0	83.0	80.0					6																	72889449		2104	4237	6341	SO:0001587	stop_gained	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72889449C>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.643C>T	6.37:g.72889449C>T	ENSP00000428417:p.Arg215*					RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R215*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R215*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R215*	p.R215*			Q86UR5	RIMS1_HUMAN			5	643	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	215					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	c.643C>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	C	36	5.651637	0.96714	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	.	.	.	5.65	4.75	0.60458	.	0.000000	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.135	13.9204	0.63928	0.378:0.622:0.0:0.0	.	.	.	.	X	215	.	ENSP00000264839:R215X	R	+	1	2	RIMS1	72946170	0.999000	0.42202	0.998000	0.56505	0.950000	0.60333	0.725000	0.25970	2.668000	0.90789	0.655000	0.94253	CGA		0.587	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			12	40	0	0	0	0.435327	0	12	40				
KIAA0101	9768	broad.mit.edu	37	15	64669065	64669065	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:64669065C>T	ENST00000300035.4	-	3	305	c.167G>A	c.(166-168)cGc>cAc	p.R56H	KIAA0101_ENST00000558008.1_Missense_Mutation_p.R56H|KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R29H	NM_014736.4	NP_055551.1	Q15004	PAF15_HUMAN	KIAA0101	56					cellular response to DNA damage stimulus (GO:0006974)|centrosome organization (GO:0051297)|DNA replication (GO:0006260)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin binding (GO:0003682)	p.R56P(1)		central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGAGTTGGGCGCACGCAAAC	0.393																																						ENST00000300035.4																			1	Substitution - Missense(1)	p.R56P(1)	lung(1)	central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						c.(166-168)cGc>cAc		KIAA0101							49.0	50.0	50.0					15																	64669065		2203	4300	6503	SO:0001583	missense	9768					mitochondrion|nucleus		g.chr15:64669065C>T	D14657	CCDS10193.1, CCDS32269.1	15q22	2006-06-22			ENSG00000166803	ENSG00000166803			28961	protein-coding gene	gene with protein product		610696				11313979, 16288740	Standard	NM_001029989		Approved	NS5ATP9, OEATC-1, p15(PAF)	uc002ank.3	Q15004	OTTHUMG00000133017	ENST00000300035.4:c.167G>A	15.37:g.64669065C>T	ENSP00000300035:p.Arg56His					KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R29H|KIAA0101_ENST00000560234.1_Missense_Mutation_p.A57T|KIAA0101_ENST00000558008.1_Missense_Mutation_p.R56H	p.R56H	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN			3	305	-			56					A6NNU5|A8K3Y3|G9G694|G9G696	Missense_Mutation	SNP	ENST00000300035.4	37	c.167G>A	CCDS10193.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869197	0.91587	.	.	ENSG00000166803	ENST00000300035	T	0.58506	0.33	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.75777	2.31	0.80722	D	1	D	0.67145	0.996	P	0.61003	0.882	T	0.77289	-0.2643	10	0.72032	D	0.01	-33.3191	18.078	0.89433	0.0:1.0:0.0:0.0	.	56	Q15004	PAF_HUMAN	H	56	ENSP00000300035:R56H	ENSP00000300035:R56H	R	-	2	0	KIAA0101	62456118	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	6.852000	0.75430	2.566000	0.86566	0.585000	0.79938	CGC		0.393	KIAA0101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256603.1	NM_014736		13	28	0	0	0	0.435327	0	13	28				
ATP2B3	492	broad.mit.edu	37	X	152813447	152813447	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:152813447C>T	ENST00000349466.2	+	8	1439	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	ATP2B3_ENST00000393842.1_Silent_p.I357I|ATP2B3_ENST00000359149.3_Silent_p.I371I|ATP2B3_ENST00000263519.4_Silent_p.I371I|ATP2B3_ENST00000370186.1_Silent_p.I357I|ATP2B3_ENST00000370181.2_Silent_p.I357I			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	371					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTGCAGATCGGGAAAGCAG	0.597																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1069-1071)atC>atT		ATPase, Ca++ transporting, plasma membrane 3							117.0	90.0	99.0					X																	152813447		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152813447C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1113C>T	X.37:g.152813447C>T						ATP2B3_ENST00000393842.1_Silent_p.I357I|ATP2B3_ENST00000359149.3_Silent_p.I371I|ATP2B3_ENST00000349466.2_Silent_p.I371I|ATP2B3_ENST00000263519.4_Silent_p.I371I|ATP2B3_ENST00000370181.2_Silent_p.I357I	p.I357I			Q16720	AT2B3_HUMAN			7	1397	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		371					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1071C>T	CCDS35440.1																																																																																				0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		12	22	0	0	0	0.411799	0	12	22				
ZNF215	7762	broad.mit.edu	37	11	6977464	6977464	+	Missense_Mutation	SNP	G	G	A	rs139686178		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6977464G>A	ENST00000278319.5	+	7	1844	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	ZNF215_ENST00000414517.2_Missense_Mutation_p.R419H|ZNF215_ENST00000529903.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	419					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		TTCAACCGACGTACAAACCTT	0.408																																						ENST00000278319.5																			0				NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32						c.(1255-1257)cGt>cAt		zinc finger protein 215		G	HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	80.0	78.0	79.0		1256	0.4	0.0	11	dbSNP_134	79	0,8592		0,0,4296	no	missense	ZNF215	NM_013250.2	29	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	419/518	6977464	1,12993	2201	4296	6497	SO:0001583	missense	7762				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:6977464G>A	AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1256G>A	11.37:g.6977464G>A	ENSP00000278319:p.Arg419His					ZNF215_ENST00000414517.2_Missense_Mutation_p.R419H|ZNF215_ENST00000529903.1_Intron	p.R419H	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN		Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)	7	1844	+			419					Q96C84	Missense_Mutation	SNP	ENST00000278319.5	37	c.1256G>A	CCDS7775.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.472820	0.26423	2.27E-4	0.0	ENSG00000149054	ENST00000278319;ENST00000414517	T;T	0.61040	0.14;0.14	4.85	0.386	0.16254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.393510	0.04825	N	0.437690	T	0.41236	0.1150	L	0.29908	0.895	0.09310	N	1	B	0.22604	0.072	B	0.12837	0.008	T	0.15521	-1.0434	10	0.30854	T	0.27	0.1536	2.8451	0.05540	0.3254:0.0:0.3471:0.3274	.	419	Q9UL58	ZN215_HUMAN	H	419	ENSP00000278319:R419H;ENSP00000393202:R419H	ENSP00000278319:R419H	R	+	2	0	ZNF215	6934040	0.000000	0.05858	0.000000	0.03702	0.556000	0.35491	-0.163000	0.09997	-0.014000	0.14175	0.655000	0.94253	CGT		0.408	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			20	30	0	0	0	0.575678	0	20	30				
IGSF1	3547	broad.mit.edu	37	X	130416550	130416550	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:130416550C>T	ENST00000361420.3	-	7	1193	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	IGSF1_ENST00000370910.1_Missense_Mutation_p.D363N|IGSF1_ENST00000370904.1_Missense_Mutation_p.D363N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D372N			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	372	Ig-like C2-type 4.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTGTTGTCATCGATGCTGGTG	0.468																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(1087-1089)Gat>Aat		immunoglobulin superfamily, member 1							205.0	165.0	178.0					X																	130416550		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416550C>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1114G>A	X.37:g.130416550C>T	ENSP00000355010:p.Asp372Asn					IGSF1_ENST00000370910.1_Missense_Mutation_p.D363N|IGSF1_ENST00000370903.3_Missense_Mutation_p.D372N|IGSF1_ENST00000361420.3_Missense_Mutation_p.D372N	p.D363N			Q8N6C5	IGSF1_HUMAN			13	1997	-			372			Ig-like C2-type 4.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1087G>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049793	0.01981	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00711	5.8;5.8;5.8;5.8	4.25	-6.16	0.02098	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.775960	0.02750	N	0.117416	T	0.01092	0.0036	L	0.56769	1.78	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.43376	-0.9395	10	0.21540	T	0.41	.	10.0619	0.42279	0.0:0.7073:0.129:0.1636	.	363;372	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	N	363;372;363;372	ENSP00000359947:D363N;ENSP00000355010:D372N;ENSP00000359941:D363N;ENSP00000359940:D372N	ENSP00000355010:D372N	D	-	1	0	IGSF1	130244231	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.144000	0.03197	-1.504000	0.01810	-0.351000	0.07748	GAT		0.468	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			38	28	0	0	0	0.804634	0	38	28				
APOB	338	broad.mit.edu	37	2	21233458	21233458	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:21233458G>A	ENST00000233242.1	-	26	6409	c.6282C>T	c.(6280-6282)aaC>aaT	p.N2094N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2094	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCTGTACGTTTTCCAGTA	0.363																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(6280-6282)aaC>aaT		apolipoprotein B	Atorvastatin(DB01076)						68.0	71.0	70.0					2																	21233458		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233458G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6282C>T	2.37:g.21233458G>A							p.N2094N	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	6409	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2094			Heparin-binding.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.6282C>T	CCDS1703.1																																																																																				0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			10	40	0	0	0	0.335167	0	10	40				
FBXO21	23014	broad.mit.edu	37	12	117595803	117595803	+	Silent	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:117595803C>A	ENST00000330622.5	-	10	1412	c.1413G>T	c.(1411-1413)ctG>ctT	p.L471L	FBXO21_ENST00000427718.2_Silent_p.L464L			O94952	FBX21_HUMAN	F-box protein 21	471					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGTGCTGCACCAGGTAGCCCA	0.532																																					GBM(168;452 2038 13535 17701 43680)	ENST00000427718.2																			0				breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29						c.(1390-1392)ctG>ctT		F-box protein 21							221.0	206.0	211.0					12																	117595803		2203	4300	6503	SO:0001819	synonymous_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117595803C>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.1413G>T	12.37:g.117595803C>A						FBXO21_ENST00000330622.5_Silent_p.L471L	p.L464L	NM_015002.2|NM_033624.2	NP_055817.1|NP_296373.1	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	10	1466	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		471					B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	c.1392G>T	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	C	9.839	1.190507	0.21954	.	.	ENSG00000135108	ENST00000550180	.	.	.	5.01	3.17	0.36434	.	.	.	.	.	T	0.54791	0.1880	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47799	-0.9089	4	.	.	.	-5.5046	6.3167	0.21194	0.0:0.5563:0.2901:0.1536	.	.	.	.	C	348	.	.	G	-	1	0	FBXO21	116080186	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.764000	0.26532	0.690000	0.31570	0.650000	0.86243	GGT		0.532	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		61	166	1	0	1.08141e-31	0.870114	1.19439e-31	61	166				
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)gGt>gTt		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	p.G13V	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> C (in FCSS).|G -> D (in FCSS).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		10	14	1	0	4.68919e-08	0.361761	4.99281e-08	10	14				
BCAS1	8537	broad.mit.edu	37	20	52644969	52644969	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr20:52644969C>T	ENST00000395961.3	-	4	851	c.685G>A	c.(685-687)Ggc>Agc	p.G229S	BCAS1_ENST00000371440.3_Missense_Mutation_p.G229S|BCAS1_ENST00000371435.2_Missense_Mutation_p.G229S|BCAS1_ENST00000411563.1_Missense_Mutation_p.G132S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	229						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCTGATAAGCCAGGAACCTCA	0.532																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(685-687)Ggc>Agc		breast carcinoma amplified sequence 1							327.0	280.0	296.0					20																	52644969		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52644969C>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.685G>A	20.37:g.52644969C>T	ENSP00000379290:p.Gly229Ser					BCAS1_ENST00000371440.3_Missense_Mutation_p.G229S|BCAS1_ENST00000371435.2_Missense_Mutation_p.G229S|BCAS1_ENST00000411563.1_Missense_Mutation_p.G132S	p.G229S	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	851	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		229					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.685G>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767467	0.69878	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32	5.11	5.11	0.69529	.	0.698726	0.14184	N	0.335834	T	0.20251	0.0487	L	0.53249	1.67	0.09310	N	1	D;D;D;P;P;P	0.76494	0.999;0.991;0.991;0.898;0.573;0.573	D;P;P;P;B;B	0.66084	0.941;0.83;0.83;0.655;0.193;0.193	T	0.03051	-1.1078	10	0.49607	T	0.09	-1.5033	15.618	0.76784	0.0:1.0:0.0:0.0	.	132;229;229;229;229;229	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	S	91;229;107;229;229;132	ENSP00000396361:G91S;ENSP00000360495:G229S;ENSP00000379290:G229S;ENSP00000360490:G229S;ENSP00000397442:G132S	ENSP00000360490:G229S	G	-	1	0	BCAS1	52078376	0.037000	0.19845	0.010000	0.14722	0.002000	0.02628	3.265000	0.51561	2.527000	0.85204	0.563000	0.77884	GGC		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		52	144	0	0	0	0.870114	0	52	144				
OR10A2	341276	broad.mit.edu	37	11	6891679	6891679	+	Missense_Mutation	SNP	C	C	T	rs368896870		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6891679C>T	ENST00000307322.4	+	1	756	c.694C>T	c.(694-696)Ctc>Ttc	p.L232F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTCCTCACACCTCCTTGTTGT	0.423																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(694-696)Ctc>Ttc		olfactory receptor, family 10, subfamily A, member 2		C	PHE/LEU	1,4401	2.1+/-5.4	0,1,2200	262.0	225.0	237.0		694	3.3	1.0	11		237	0,8592		0,0,4296	no	missense	OR10A2	NM_001004460.1	22	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	232/304	6891679	1,12993	2201	4296	6497	SO:0001583	missense	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891679C>T	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.694C>T	11.37:g.6891679C>T	ENSP00000303862:p.Leu232Phe						p.L232F	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	756	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	232					B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	c.694C>T	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	c	11.53	1.666830	0.29604	2.27E-4	0.0	ENSG00000170790	ENST00000307322	T	0.50277	0.75	4.18	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.56775	0.2008	M	0.77712	2.385	0.35728	D	0.817721	P	0.41848	0.763	P	0.51016	0.656	T	0.67142	-0.5745	10	0.87932	D	0	.	6.6492	0.22953	0.0:0.7857:0.0:0.2143	.	232	Q9H208	O10A2_HUMAN	F	232	ENSP00000303862:L232F	ENSP00000303862:L232F	L	+	1	0	OR10A2	6848255	0.476000	0.25901	0.992000	0.48379	0.270000	0.26580	1.142000	0.31540	1.139000	0.42245	-0.141000	0.14075	CTC		0.423	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		109	46	0	0	0	0.870114	0	109	46				
TLN1	7094	broad.mit.edu	37	9	35720835	35720835	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:35720835C>T	ENST00000314888.9	-	11	1533	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	TLN1_ENST00000540444.1_Missense_Mutation_p.G394S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	394	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGATGTAGCCGGCAATGAGC	0.512																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(1180-1182)Ggc>Agc		talin 1							161.0	136.0	144.0					9																	35720835		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35720835C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.1180G>A	9.37:g.35720835C>T	ENSP00000316029:p.Gly394Ser					TLN1_ENST00000540444.1_Missense_Mutation_p.G394S	p.G394S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		11	1533	-	all_epithelial(49;0.167)		394			FERM.|Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.1180G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435383	0.96150	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	D;D	0.82984	-1.67;-1.67	5.71	4.82	0.62117	FERM domain (1);Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (1);	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.93483	0.6829	10	0.87932	D	0	-19.2048	14.8063	0.69959	0.0:0.931:0.0:0.069	.	394	Q9Y490	TLN1_HUMAN	S	394	ENSP00000316029:G394S;ENSP00000442981:G394S	ENSP00000316029:G394S	G	-	1	0	TLN1	35710835	1.000000	0.71417	0.949000	0.38748	0.992000	0.81027	7.810000	0.86072	1.432000	0.47375	0.655000	0.94253	GGC		0.512	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		9	95	0	0	0	0.411799	0	9	95				
SPNS3	201305	broad.mit.edu	37	17	4351571	4351571	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:4351571G>A	ENST00000355530.2	+	6	1023	c.743G>A	c.(742-744)tGt>tAt	p.C248Y	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_Missense_Mutation_p.C121Y	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	248					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						AGCAGCTGGTGTGAGGACGTC	0.612																																						ENST00000355530.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						c.(742-744)tGt>tAt		spinster homolog 3 (Drosophila)							49.0	42.0	45.0					17																	4351571		2203	4300	6503	SO:0001583	missense	201305				lipid transport|transmembrane transport	integral to membrane		g.chr17:4351571G>A		CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.743G>A	17.37:g.4351571G>A	ENSP00000347721:p.Cys248Tyr					SPNS3_ENST00000333476.2_Missense_Mutation_p.C121Y|SPNS3_ENST00000576069.1_3'UTR	p.C248Y	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN			6	1023	+			248					Q8IZ31	Missense_Mutation	SNP	ENST00000355530.2	37	c.743G>A	CCDS11045.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.520447	0.00967	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.58210	0.35;0.35	5.42	0.852	0.18995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.628844	0.17752	N	0.163195	T	0.32194	0.0821	L	0.45581	1.43	0.33617	D	0.604349	B;B	0.06786	0.001;0.0	B;B	0.12837	0.005;0.008	T	0.31724	-0.9933	10	0.02654	T	1	-0.4293	1.7881	0.03046	0.1584:0.1349:0.4295:0.2772	.	121;248	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	Y	248;121	ENSP00000347721:C248Y;ENSP00000333207:C121Y	ENSP00000333207:C121Y	C	+	2	0	SPNS3	4298320	0.046000	0.20272	0.998000	0.56505	0.321000	0.28281	-0.027000	0.12371	0.348000	0.23949	-0.261000	0.10672	TGT		0.612	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538		13	13	0	0	0	0.479597	0	13	13				
AFAP1	60312	broad.mit.edu	37	4	7795475	7795475	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:7795475G>A	ENST00000360265.4	-	10	1579	c.1345C>T	c.(1345-1347)Ctg>Ttg	p.L449L	AFAP1_ENST00000420658.1_Silent_p.L449L|AFAP1_ENST00000358461.2_Silent_p.L449L|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Silent_p.L449L			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	449						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TCATAGTGCAGAGCCTCCGGG	0.498																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1345-1347)Ctg>Ttg		actin filament associated protein 1							169.0	159.0	163.0					4																	7795475		2203	4300	6503	SO:0001819	synonymous_variant	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7795475G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1345C>T	4.37:g.7795475G>A						AFAP1_ENST00000360265.4_Silent_p.L449L|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000382543.3_Silent_p.L449L|AFAP1_ENST00000358461.2_Silent_p.L449L	p.L449L	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			11	1617	-			449					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	c.1345C>T	CCDS3397.1																																																																																				0.498	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		23	74	0	0	0	0.624587	0	23	74				
TRERF1	55809	broad.mit.edu	37	6	42224469	42224469	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:42224469C>T	ENST00000372922.4	-	12	3139	c.2577G>A	c.(2575-2577)gtG>gtA	p.V859V	TRERF1_ENST00000541110.1_Silent_p.V879V|TRERF1_ENST00000354325.2_Silent_p.V776V|TRERF1_ENST00000372917.4_Silent_p.V776V|TRERF1_ENST00000340840.2_Silent_p.V776V	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	859	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTACCATCACATCACCTT	0.403																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(2635-2637)gtG>gtA		transcriptional regulating factor 1							112.0	106.0	108.0					6																	42224469		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42224469C>T	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2577G>A	6.37:g.42224469C>T						TRERF1_ENST00000372917.4_Silent_p.V776V|TRERF1_ENST00000354325.2_Silent_p.V776V|TRERF1_ENST00000340840.2_Silent_p.V776V|TRERF1_ENST00000372922.4_Silent_p.V859V	p.V879V			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		12	3205	-	Colorectal(47;0.196)		859			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.2637G>A	CCDS4867.1																																																																																				0.403	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		14	37	0	0	0	0.479597	0	14	37				
ADCY2	108	broad.mit.edu	37	5	7773108	7773108	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:7773108G>C	ENST00000338316.4	+	18	2367	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	ADCY2_ENST00000537121.1_Missense_Mutation_p.E580Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	760					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGTAAACTATGAGCTGAAGAT	0.502																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(2278-2280)Gag>Cag		adenylate cyclase 2 (brain)							253.0	218.0	230.0					5																	7773108		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7773108G>C	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2278G>C	5.37:g.7773108G>C	ENSP00000342952:p.Glu760Gln					ADCY2_ENST00000537121.1_Missense_Mutation_p.E580Q	p.E760Q	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			18	2367	+			760					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.2278G>C	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378558	0.82682	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;T	0.81415	-1.01;-1.49	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.89160	0.6636	M	0.79258	2.445	0.53005	D	0.999968	D;D	0.89917	1.0;0.997	D;D	0.77557	0.99;0.969	D	0.89558	0.3804	10	0.48119	T	0.1	.	15.807	0.78520	0.0:0.0:1.0:0.0	.	580;760	B7Z2C1;Q08462	.;ADCY2_HUMAN	Q	760;593;580	ENSP00000342952:E760Q;ENSP00000444803:E580Q	ENSP00000342952:E760Q	E	+	1	0	ADCY2	7826108	1.000000	0.71417	0.802000	0.32245	0.914000	0.54420	9.023000	0.93683	2.261000	0.74972	0.467000	0.42956	GAG		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		30	75	0	0	0	0.760397	0	30	75				
CCDC180	100499483	broad.mit.edu	37	9	100071844	100071844	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:100071844G>A	ENST00000357054.1	+	17	1702	c.767G>A	c.(766-768)aGc>aAc	p.S256N	CCDC180_ENST00000375202.2_Missense_Mutation_p.S117N|CCDC180_ENST00000395220.1_Missense_Mutation_p.S256N|CCDC180_ENST00000529487.1_Missense_Mutation_p.S117N|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.S117N|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	256						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGGATGCACAGCCTCCCCAAC	0.547																																						ENST00000375202.2																			0											c.(349-351)aGc>aAc		coiled-coil domain containing 180							99.0	77.0	84.0					9																	100071844		2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100071844G>A	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.767G>A	9.37:g.100071844G>A	ENSP00000349562:p.Ser256Asn					CCDC180_ENST00000395220.1_Missense_Mutation_p.S256N|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.S117N|CCDC180_ENST00000411667.2_Missense_Mutation_p.S117N|CCDC180_ENST00000357054.1_Missense_Mutation_p.S256N	p.S117N							17	1702	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.350G>A		.	.	.	.	.	.	.	.	.	.	G	8.473	0.857912	0.17178	.	.	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.23552	2.69;1.9;2.72;2.34;2.72	4.71	3.75	0.43078	.	0.000000	0.45606	D	0.000347	T	0.25680	0.0625	L	0.60455	1.87	0.25867	N	0.983752	P;P;P;P	0.50272	0.933;0.835;0.933;0.835	B;B;B;B	0.43728	0.429;0.429;0.429;0.429	T	0.13019	-1.0525	10	0.21014	T	0.42	-16.4152	11.4636	0.50225	0.0:0.1826:0.8174:0.0	.	117;256;117;256	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	N	256;256;117;117;140;117	ENSP00000349562:S256N;ENSP00000378646:S256N;ENSP00000364348:S117N;ENSP00000414000:S117N;ENSP00000434727:S117N	ENSP00000349562:S256N	S	+	2	0	C9orf174	99111665	1.000000	0.71417	0.983000	0.44433	0.171000	0.22731	3.583000	0.53928	2.346000	0.79739	0.561000	0.74099	AGC		0.547	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		13	38	0	0	0	0.457914	0	13	38				
UBXN2A	165324	broad.mit.edu	37	2	24222567	24222567	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:24222567G>A	ENST00000309033.4	+	7	854	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RN7SL610P_ENST00000463845.2_RNA|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E151K|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E204K|UBXN2A_ENST00000446425.2_3'UTR	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	204	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AGACTTCATTGAAAAATACCA	0.363																																						ENST00000309033.4																			0				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						c.(610-612)Gaa>Aaa		UBX domain protein 2A							65.0	70.0	68.0					2																	24222567		2203	4300	6503	SO:0001583	missense	165324							g.chr2:24222567G>A	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.610G>A	2.37:g.24222567G>A	ENSP00000312107:p.Glu204Lys					UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E204K|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E151K	p.E204K	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN			7	854	+			204			UBX.		A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	37	c.610G>A	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.519744	0.44866	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.41400	1.0;1.0;1.0	4.99	3.11	0.35812	UBX (3);	0.533896	0.20546	N	0.090201	T	0.22820	0.0551	N	0.21448	0.665	0.33788	D	0.625138	B;P	0.35684	0.278;0.515	B;B	0.37387	0.084;0.248	T	0.21484	-1.0244	10	0.06891	T	0.86	3.3972	5.8354	0.18605	0.1023:0.1996:0.698:0.0	.	151;204	B7ZKP8;P68543	.;UBX2A_HUMAN	K	204;204;151	ENSP00000385525:E204K;ENSP00000312107:E204K;ENSP00000440533:E151K	ENSP00000312107:E204K	E	+	1	0	UBXN2A	24076071	0.879000	0.30193	0.998000	0.56505	0.808000	0.45660	1.330000	0.33781	1.351000	0.45789	0.561000	0.74099	GAA		0.363	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713		19	36	0	0	0	0.575678	0	19	36				
OR6A2	8590	broad.mit.edu	37	11	6816910	6816910	+	Silent	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:6816910C>G	ENST00000332601.3	-	1	218	c.30G>C	c.(28-30)gtG>gtC	p.V10V		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	10					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAACTCACTCACTCTCCCAC	0.512																																						ENST00000332601.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(28-30)gtG>gtC		olfactory receptor, family 6, subfamily A, member 2							103.0	83.0	90.0					11																	6816910		2201	4296	6497	SO:0001819	synonymous_variant	8590				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6816910C>G	AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.30G>C	11.37:g.6816910C>G							p.V10V	NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	218	-		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	10					Q3MJC7|Q6IF35|Q9H206	Silent	SNP	ENST00000332601.3	37	c.30G>C	CCDS7772.1																																																																																				0.512	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385981.1	NM_003696		13	41	0	0	0	0.457914	0	13	41				
SHH	6469	broad.mit.edu	37	7	155599120	155599120	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:155599120G>A	ENST00000297261.2	-	2	582	c.432C>T	c.(430-432)cgC>cgT	p.R144R	SHH_ENST00000472308.1_5'Flank	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	144			R -> P (in HPE3). {ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCCACTGCGCGGCCCTCGT	0.642																																						ENST00000297261.2																			0				central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(430-432)cgC>cgT		sonic hedgehog							113.0	86.0	95.0					7																	155599120		2203	4300	6503	SO:0001819	synonymous_variant	6469				androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding	g.chr7:155599120G>A		CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.432C>T	7.37:g.155599120G>A							p.R144R	NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	582	-	all_neural(206;0.101)	all_hematologic(28;0.0592)	144		R -> P (in HPE3).			A4D247|Q75MC9	Silent	SNP	ENST00000297261.2	37	c.432C>T	CCDS5942.1																																																																																				0.642	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193		13	18	0	0	0	0.411799	0	13	18				
IFT140	9742	broad.mit.edu	37	16	1657244	1657244	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:1657244C>A	ENST00000426508.2	-	3	387	c.24G>T	c.(22-24)caG>caT	p.Q8H	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	8					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTTCTATCTGGTGGTCAT	0.488																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(22-24)caG>caT		intraflagellar transport 140 homolog (Chlamydomonas)							141.0	146.0	144.0					16																	1657244		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1657244C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.24G>T	16.37:g.1657244C>A	ENSP00000406012:p.Gln8His					LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	p.Q8H	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			3	387	-		Hepatocellular(780;0.219)	8					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.24G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692325	0.30052	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T;T	0.60424	0.19;0.19	5.29	-8.89	0.00785	WD40 repeat-like-containing domain (1);	0.118844	0.64402	D	0.000016	T	0.21550	0.0519	N	0.08118	0	0.09310	N	0.999999	P	0.36027	0.533	B	0.33799	0.17	T	0.19614	-1.0300	10	0.45353	T	0.12	.	2.3154	0.04197	0.1728:0.2554:0.3754:0.1965	.	8	Q96RY7	IF140_HUMAN	H	8	ENSP00000380562:Q8H;ENSP00000406012:Q8H	ENSP00000380562:Q8H	Q	-	3	2	IFT140	1597245	0.000000	0.05858	0.012000	0.15200	0.009000	0.06853	-1.592000	0.02098	-1.584000	0.01636	-1.261000	0.01458	CAG		0.488	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		19	72	1	0	1.15919e-05	0.575678	1.20817e-05	19	72				
PCDH7	5099	broad.mit.edu	37	4	30726069	30726069	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:30726069C>T	ENST00000361762.2	+	1	4033	c.3025C>T	c.(3025-3027)Ccc>Tcc	p.P1009S	PCDH7_ENST00000543491.1_Missense_Mutation_p.P1009S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	1009					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCAGCTTCATCCCCAGTCACC	0.507																																						ENST00000361762.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						c.(3025-3027)Ccc>Tcc		protocadherin 7							97.0	98.0	98.0					4																	30726069		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30726069C>T	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.3025C>T	4.37:g.30726069C>T	ENSP00000355243:p.Pro1009Ser					PCDH7_ENST00000543491.1_Missense_Mutation_p.P1009S	p.P1009S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN			1	4033	+			1009					O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.3025C>T	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.28|18.28	3.588195|3.588195	0.66105|0.66105	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.38722|.	1.12;1.12|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Protocadherin (1);|.	.|.	.|.	.|.	.|.	T|T	0.77343|0.77343	0.4116|0.4116	M|M	0.76838|0.76838	2.35|2.35	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.77557|.	0.961;0.982;0.99|.	T|T	0.77427|0.77427	-0.2592|-0.2592	9|5	0.87932|.	D|.	0|.	.|.	18.2504|18.2504	0.90000|0.90000	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1009;962;1009|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	S|F	1009;1009;962|698	ENSP00000355243:P1009S;ENSP00000441802:P1009S|.	ENSP00000330302:P962S|.	P|S	+|+	1|2	0|0	PCDH7|PCDH7	30335167|30335167	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.979000|0.979000	0.70002|0.70002	7.320000|7.320000	0.79064|0.79064	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	CCC|TCC		0.507	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		13	29	0	0	0	0.435327	0	13	29				
ABCC8	6833	broad.mit.edu	37	11	17428294	17428294	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:17428294C>T	ENST00000389817.3	-	26	3272	c.3204G>A	c.(3202-3204)acG>acA	p.T1068T	ABCC8_ENST00000302539.4_Silent_p.T1069T			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1068	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	TGCAGAGCACCGTGAACACCA	0.602																																						ENST00000302539.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3205-3207)acG>acA		ATP-binding cassette, sub-family C (CFTR/MRP), member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						169.0	139.0	150.0					11																	17428294		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17428294C>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3204G>A	11.37:g.17428294C>T						ABCC8_ENST00000389817.3_Silent_p.T1068T	p.T1069T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	26	3332	-			1068	VL -> AV (in Ref. 1; AAB02278/AAB02417/ AAB02418).		ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.3207G>A	CCDS31437.1																																																																																				0.602	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		28	18	0	0	0	0.717897	0	28	18				
BEND3	57673	broad.mit.edu	37	6	107390676	107390676	+	Silent	SNP	G	G	A	rs370245100		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:107390676G>A	ENST00000369042.1	-	4	1909	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	BEND3_ENST00000429433.2_Silent_p.F573F			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	573	BEN 3. {ECO:0000255|PROSITE- ProRule:PRU00784}.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGCGCGAGGCGAAGTTGCCGA	0.637																																						ENST00000429433.2																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						c.(1717-1719)ttC>ttT		BEN domain containing 3							54.0	53.0	53.0					6																	107390676		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107390676G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.1719C>T	6.37:g.107390676G>A						BEND3_ENST00000369042.1_Silent_p.F573F	p.F573F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN			5	2368	-			573			BEN 3.		A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.1719C>T	CCDS34507.1																																																																																				0.637	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		27	40	0	0	0	0.740014	0	27	40				
CDH11	1009	broad.mit.edu	37	16	65006889	65006889	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:65006889C>T	ENST00000268603.4	-	9	1923	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CDH11_ENST00000394156.3_Silent_p.E436E|CDH11_ENST00000566827.1_Silent_p.E310E	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	436	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TAAAACCATCCTCTGGATTAA	0.413			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1306-1308)gaG>gaA		cadherin 11, type 2, OB-cadherin (osteoblast)							94.0	96.0	95.0					16																	65006889		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65006889C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1308G>A	16.37:g.65006889C>T		TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Silent_p.E436E|CDH11_ENST00000566827.1_Silent_p.E310E	p.E436E			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	9	1761	-		Ovarian(137;0.0973)	436			Cadherin 4.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1308G>A	CCDS10803.1																																																																																				0.413	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		10	44	0	0	0	0.361761	0	10	44				
SPHK2	56848	broad.mit.edu	37	19	49132292	49132292	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:49132292G>A	ENST00000245222.4	+	7	1593	c.1227G>A	c.(1225-1227)ccG>ccA	p.P409P	SPHK2_ENST00000598088.1_Silent_p.P409P|SPHK2_ENST00000599029.1_Silent_p.P373P|SPHK2_ENST00000340932.3_Silent_p.P371P|SPHK2_ENST00000600537.1_Silent_p.P350P|SPHK2_ENST00000599748.1_Silent_p.P373P|SPHK2_ENST00000443164.1_Silent_p.P471P	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	409					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		Acccagccccgcccatggccc	0.682																																						ENST00000443164.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						c.(1411-1413)ccG>ccA		sphingosine kinase 2							26.0	27.0	27.0					19																	49132292		2203	4296	6499	SO:0001819	synonymous_variant	56848				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity	g.chr19:49132292G>A	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.1227G>A	19.37:g.49132292G>A						SPHK2_ENST00000599029.1_Silent_p.P373P|SPHK2_ENST00000245222.4_Silent_p.P409P|SPHK2_ENST00000599748.1_Silent_p.P373P|SPHK2_ENST00000340932.3_Silent_p.P371P|SPHK2_ENST00000600537.1_Silent_p.P350P|SPHK2_ENST00000598088.1_Silent_p.P409P	p.P471P			Q9NRA0	SPHK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)	5	2118	+		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)	409					A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Silent	SNP	ENST00000245222.4	37	c.1413G>A	CCDS12727.1																																																																																				0.682	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			8	22	0	0	0	0.278610	0	8	22				
TULP2	7288	broad.mit.edu	37	19	49399725	49399725	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:49399725C>T	ENST00000221399.3	-	4	317	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	58					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CAGACAAGAGCGCCAAAGCCA	0.637																																						ENST00000221399.3																			0				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22						c.(172-174)cGc>cAc		tubby like protein 2							45.0	47.0	46.0					19																	49399725		2203	4300	6503	SO:0001583	missense	7288				visual perception	cytoplasm|extracellular region		g.chr19:49399725C>T	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.173G>A	19.37:g.49399725C>T	ENSP00000221399:p.Arg58His						p.R58H	NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	4	317	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	58					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.173G>A	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530160	0.64860	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977;ENST00000522229	D;T;T;T	0.86097	-2.07;1.61;0.88;0.34	5.03	1.5	0.22942	Tubby, N-terminal (1);	0.678460	0.13857	N	0.357935	D	0.84835	0.5560	L	0.56199	1.76	0.09310	N	1	D	0.69078	0.997	P	0.54431	0.752	T	0.74318	-0.3704	10	0.72032	D	0.01	-1.6322	5.425	0.16421	0.1457:0.6324:0.1409:0.081	.	58	O00295	TULP2_HUMAN	H	58;58;58;39;14	ENSP00000221399:R58H;ENSP00000428420:R58H;ENSP00000430040:R58H;ENSP00000428535:R39H	ENSP00000221399:R58H	R	-	2	0	TULP2	54091537	0.005000	0.15991	0.003000	0.11579	0.007000	0.05969	0.305000	0.19254	0.199000	0.20427	0.596000	0.82720	CGC		0.637	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323		17	29	0	0	0	0.500413	0	17	29				
TNKS	8658	broad.mit.edu	37	8	9564372	9564372	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:9564372G>A	ENST00000310430.6	+	8	1347	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	TNKS_ENST00000518281.1_Missense_Mutation_p.E204K|TNKS_ENST00000520408.1_Missense_Mutation_p.E441K|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	441					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCCACTGCACGAGGCTGCTTC	0.438																																						ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(1321-1323)Gag>Aag		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase							114.0	98.0	103.0					8																	9564372		2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9564372G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.1321G>A	8.37:g.9564372G>A	ENSP00000311579:p.Glu441Lys					TNKS_ENST00000520408.1_Missense_Mutation_p.E441K|TNKS_ENST00000518281.1_Missense_Mutation_p.E204K|TNKS_ENST00000518027.1_3'UTR	p.E441K	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	8	1347	+			441					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.1321G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928454	0.92389	.	.	ENSG00000173273	ENST00000520408;ENST00000310430;ENST00000518281	T;T;T	0.64803	-0.12;-0.12;-0.12	5.67	5.67	0.87782	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	N	0.21373	0.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.66693	-0.5859	10	0.33141	T	0.24	.	20.1421	0.98061	0.0:0.0:1.0:0.0	.	441;441	E7EWY6;O95271	.;TNKS1_HUMAN	K	441;441;204	ENSP00000428299:E441K;ENSP00000311579:E441K;ENSP00000429890:E204K	ENSP00000311579:E441K	E	+	1	0	TNKS	9601782	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.792000	0.99085	2.836000	0.97738	0.655000	0.94253	GAG		0.438	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		20	66	0	0	0	0.608945	0	20	66				
ZNF319	57567	broad.mit.edu	37	16	58031659	58031659	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:58031659C>T	ENST00000299237.2	-	2	1133	c.511G>A	c.(511-513)Gag>Aag	p.E171K	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	171					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						TCCGCTGCCTCAGCTGGCTTG	0.622																																						ENST00000299237.2																			0				large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						c.(511-513)Gag>Aag		zinc finger protein 319							71.0	84.0	79.0					16																	58031659		2198	4297	6495	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58031659C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.511G>A	16.37:g.58031659C>T	ENSP00000299237:p.Glu171Lys						p.E171K	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN			2	1133	-			171					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.511G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858654	0.32791	.	.	ENSG00000166188	ENST00000299237	T	0.02787	4.16	5.11	5.11	0.69529	.	0.154357	0.43110	D	0.000604	T	0.02533	0.0077	N	0.08118	0	0.47183	D	0.999345	B	0.25105	0.118	B	0.24541	0.054	T	0.59144	-0.7509	10	0.66056	D	0.02	-27.029	17.5199	0.87783	0.0:1.0:0.0:0.0	.	171	Q9P2F9	ZN319_HUMAN	K	171	ENSP00000299237:E171K	ENSP00000299237:E171K	E	-	1	0	ZNF319	56589160	1.000000	0.71417	0.791000	0.31998	0.119000	0.20118	5.044000	0.64214	2.377000	0.81083	0.462000	0.41574	GAG		0.622	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			46	88	0	0	0	0.870114	0	46	88				
ZNF532	55205	broad.mit.edu	37	18	56620896	56620896	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr18:56620896G>A	ENST00000336078.4	+	8	3791	c.3015G>A	c.(3013-3015)aaG>aaA	p.K1005K	ZNF532_ENST00000591083.1_Silent_p.K1005K|ZNF532_ENST00000591230.1_Silent_p.K1005K|ZNF532_ENST00000591808.1_Silent_p.K1005K|ZNF532_ENST00000589288.1_Silent_p.K1005K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1005					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATTGGAAAAGAAATCTCCAT	0.428																																						ENST00000336078.4																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						c.(3013-3015)aaG>aaA		zinc finger protein 532							64.0	63.0	64.0					18																	56620896		2203	4300	6503	SO:0001819	synonymous_variant	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56620896G>A	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.3015G>A	18.37:g.56620896G>A						ZNF532_ENST00000589288.1_Silent_p.K1005K|ZNF532_ENST00000591230.1_Silent_p.K1005K|ZNF532_ENST00000591808.1_Silent_p.K1005K|ZNF532_ENST00000591083.1_Silent_p.K1005K	p.K1005K	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN			8	3791	+			1005					Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	ENST00000336078.4	37	c.3015G>A	CCDS11969.1																																																																																				0.428	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181		24	49	0	0	0	0.624587	0	24	49				
RBX1	9978	broad.mit.edu	37	22	41360103	41360103	+	Silent	SNP	C	C	T	rs142549819		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:41360103C>T	ENST00000216225.8	+	3	250	c.210C>T	c.(208-210)gtC>gtT	p.V70V	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	70					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						AGTGTACTGTCGCATGGGGAG	0.468																																						ENST00000216225.8																			0				large_intestine(1)|lung(3)|skin(1)	5						c.(208-210)gtC>gtT		ring-box 1, E3 ubiquitin protein ligase		C		0,4406		0,0,2203	163.0	129.0	141.0		210	-11.6	0.0	22	dbSNP_134	141	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RBX1	NM_014248.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		70/109	41360103	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9978				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding	g.chr22:41360103C>T	AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"""RING-type (C3HC4) zinc fingers"""	9928	protein-coding gene	gene with protein product	"""regulator of cullins 1"""	603814	"""ring-box 1"""			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.210C>T	22.37:g.41360103C>T						XPNPEP3_ENST00000544094.1_3'UTR	p.V70V	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN			3	250	+			70					B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Silent	SNP	ENST00000216225.8	37	c.210C>T	CCDS14009.1																																																																																				0.468	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322149.1	NM_014248		11	27	0	0	0	0.387290	0	11	27				
CPSF2	53981	broad.mit.edu	37	14	92628079	92628079	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:92628079C>T	ENST00000298875.4	+	16	2625	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	780					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AACAATATGCCATTGTATAAA	0.338																																					Ovarian(78;28 1788 18702 44111)	ENST00000298875.4																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24						c.(2338-2340)gcC>gcT		cleavage and polyadenylation specific factor 2, 100kDa							66.0	63.0	64.0					14																	92628079		2203	4298	6501	SO:0001819	synonymous_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92628079C>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.2340C>T	14.37:g.92628079C>T							p.A780A	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	16	2625	+		all_cancers(154;0.0766)	780					B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	c.2340C>T	CCDS9902.1																																																																																				0.338	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			4	18	0	0	0	0.150653	0	4	18				
MGEA5	10724	broad.mit.edu	37	10	103569963	103569963	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:103569963G>A	ENST00000361464.3	-	4	853	c.458C>T	c.(457-459)aCa>aTa	p.T153I	MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.T153I|MGEA5_ENST00000370094.3_Missense_Mutation_p.T153I|MGEA5_ENST00000439817.1_Missense_Mutation_p.T153I	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	153					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ACGTTTCAATGTGGATACTTC	0.373																																						ENST00000361464.3																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(457-459)aCa>aTa		meningioma expressed antigen 5 (hyaluronidase)							133.0	131.0	132.0					10																	103569963		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103569963G>A	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.458C>T	10.37:g.103569963G>A	ENSP00000354850:p.Thr153Ile					MGEA5_ENST00000419011.2_3'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.T153I|MGEA5_ENST00000439817.1_Missense_Mutation_p.T153I|MGEA5_ENST00000370094.3_Missense_Mutation_p.T153I	p.T153I	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	4	853	-		Colorectal(252;0.207)	153					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.458C>T	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248726	0.39797	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.33216	1.42;1.49;1.43;1.48	5.9	5.9	0.94986	Glycoside hydrolase, superfamily (1);	0.047328	0.85682	D	0.000000	T	0.25158	0.0611	N	0.20881	0.62	0.80722	D	1	B;B;B;B	0.24258	0.009;0.007;0.082;0.1	B;B;B;B	0.25405	0.021;0.012;0.036;0.06	T	0.05784	-1.0864	10	0.17832	T	0.49	-6.3271	20.282	0.98514	0.0:0.0:1.0:0.0	.	153;153;153;153	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	I	153;153;153;153;101	ENSP00000409973:T153I;ENSP00000354850:T153I;ENSP00000350445:T153I;ENSP00000359112:T153I	ENSP00000350445:T153I	T	-	2	0	MGEA5	103559953	1.000000	0.71417	0.984000	0.44739	0.707000	0.40811	7.959000	0.87885	2.786000	0.95864	0.563000	0.77884	ACA		0.373	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		5	63	0	0	0	0.217242	0	5	63				
XIRP2	129446	broad.mit.edu	37	2	168103818	168103818	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:168103818C>A	ENST00000409195.1	+	9	6005	c.5916C>A	c.(5914-5916)aaC>aaA	p.N1972K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1750K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N1972K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1797					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.N1972K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGAGGAACAAAAATAGTC	0.458																																						ENST00000409195.1																			1	Substitution - Missense(1)	p.N1972K(1)	lung(1)	NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(5914-5916)aaC>aaA		xin actin-binding repeat containing 2							42.0	41.0	41.0					2																	168103818		1913	4131	6044	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168103818C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5916C>A	2.37:g.168103818C>A	ENSP00000386840:p.Asn1972Lys					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.N1972K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.N1750K	p.N1972K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	6005	+			1797					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.5916C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	2.147	-0.395389	0.04899	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.24	5.73	2.92	0.33932	.	0.562741	0.19002	N	0.125325	T	0.02380	0.0073	N	0.22421	0.69	0.09310	N	1	B;B;B	0.25904	0.085;0.137;0.034	B;B;B	0.21917	0.016;0.037;0.014	T	0.43734	-0.9373	10	0.48119	T	0.1	0.0057	8.8589	0.35245	0.0:0.7362:0.1229:0.1409	.	1797;1797;1750	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	1972;1972;1750	ENSP00000386840:N1972K;ENSP00000295237:N1972K;ENSP00000387255:N1750K	ENSP00000295237:N1972K	N	+	3	2	XIRP2	167812064	0.882000	0.30256	0.008000	0.14137	0.022000	0.10575	0.731000	0.26058	0.764000	0.33197	0.650000	0.86243	AAC		0.458	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		13	23	1	0	9.05144e-12	0.435327	9.8501e-12	13	23				
DMRTC2	63946	broad.mit.edu	37	19	42351824	42351824	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:42351824C>T	ENST00000269945.3	+	3	296	c.245C>T	c.(244-246)gCt>gTt	p.A82V	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A82V	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	82					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						AGGGTCATGGCTGCCCAGGTG	0.592																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(244-246)gCt>gTt		DMRT-like family C2							35.0	33.0	34.0					19																	42351824		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351824C>T	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.245C>T	19.37:g.42351824C>T	ENSP00000269945:p.Ala82Val					DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.A82V	p.A82V	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN			3	296	+			82					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.245C>T	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221742	0.95139	.	.	ENSG00000142025	ENST00000269945	.	.	.	5.3	5.3	0.74995	DM DNA-binding (5);	0.000000	0.46442	D	0.000293	D	0.83746	0.5321	M	0.88704	2.975	0.44677	D	0.997663	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.966	D	0.86437	0.1764	9	0.72032	D	0.01	-7.6013	14.8099	0.69985	0.0:1.0:0.0:0.0	.	82;82	B4DX56;Q8IXT2	.;DMRTD_HUMAN	V	82	.	ENSP00000269945:A82V	A	+	2	0	DMRTC2	47043664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.445000	0.66594	2.658000	0.90341	0.655000	0.94253	GCT		0.592	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		5	4	0	0	0	0.184627	0	5	4				
ITIH5	80760	broad.mit.edu	37	10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A	rs547413516		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W|ITIH5_ENST00000434980.1_5'UTR	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20788	0.001		0.0	False		,,,				2504	0.0					ENST00000256861.6																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1642-1644)Cgg>Tgg		inter-alpha-trypsin inhibitor heavy chain family, member 5							66.0	63.0	64.0					10																	7618752		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7618752G>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1642C>T	10.37:g.7618752G>A	ENSP00000256861:p.Arg548Trp					ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W|ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W	p.R548W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN			10	1720	-			548					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1642C>T		.	.	.	.	.	.	.	.	.	.	C	21.6	4.173195	0.78452	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72	5.41	4.47	0.54385	.	0.880038	0.10177	N	0.706378	T	0.17534	0.0421	.	.	.	0.19775	N	0.99995	D;D;D	0.60160	0.961;0.987;0.972	B;B;P	0.45138	0.191;0.28;0.471	T	0.13308	-1.0514	9	0.87932	D	0	-14.6668	11.1572	0.48495	0.1438:0.7182:0.138:0.0	.	548;548;334	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	W	548;548;334;330;548	ENSP00000256861:R548W;ENSP00000380333:R548W;ENSP00000298441:R334W;ENSP00000387969:R330W;ENSP00000380332:R548W	ENSP00000256861:R548W	R	-	1	2	ITIH5	7658758	0.569000	0.26643	0.810000	0.32431	0.029000	0.11900	0.932000	0.28884	1.281000	0.44480	-0.357000	0.07601	CGG		0.587	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	NM_030569		3	29	0	0	0	0.115264	0	3	29				
HMCN1	83872	broad.mit.edu	37	1	185815164	185815164	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:185815164G>T	ENST00000271588.4	+	2	504	c.275G>T	c.(274-276)gGc>gTc	p.G92V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G92V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	92	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGAAATTGGCCCAGTGACA	0.368																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(274-276)gGc>gTc		hemicentin 1							104.0	103.0	103.0					1																	185815164		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185815164G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.275G>T	1.37:g.185815164G>T	ENSP00000271588:p.Gly92Val					HMCN1_ENST00000367492.2_Missense_Mutation_p.G92V	p.G92V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			2	504	+			92			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.275G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297429	0.81025	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.10960	2.82;2.82	5.48	5.48	0.80851	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.41880	0.1178	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49532	-0.8930	10	0.87932	D	0	.	16.27	0.82612	0.0:0.0:1.0:0.0	.	92	Q96RW7	HMCN1_HUMAN	V	92	ENSP00000271588:G92V;ENSP00000356462:G92V	ENSP00000271588:G92V	G	+	2	0	HMCN1	184081787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.903000	0.87398	2.562000	0.86427	0.563000	0.77884	GGC		0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		7	35	1	0	1.12685e-05	0.307466	1.18279e-05	7	35				
CTNNA1	1495	broad.mit.edu	37	5	138260216	138260216	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr5:138260216G>C	ENST00000302763.7	+	12	1654	c.1564G>C	c.(1564-1566)Gat>Cat	p.D522H	CTNNA1_ENST00000540387.1_Missense_Mutation_p.D152H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D419H|CTNNA1_ENST00000518825.1_Missense_Mutation_p.D522H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	522					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATTTTGGAAGATGTGAACAA	0.473																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(1564-1566)Gat>Cat		catenin (cadherin-associated protein), alpha 1, 102kDa							47.0	45.0	46.0					5																	138260216		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138260216G>C	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1564G>C	5.37:g.138260216G>C	ENSP00000304669:p.Asp522His					CTNNA1_ENST00000518825.1_Missense_Mutation_p.D522H|CTNNA1_ENST00000355078.5_Missense_Mutation_p.D419H|CTNNA1_ENST00000540387.1_Missense_Mutation_p.D152H	p.D522H	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		12	1654	+			522					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.1564G>C	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.803799	0.90623	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.71762	0.3378	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.984;1.0	T	0.68530	-0.5384	10	0.28530	T	0.3	-17.4247	19.3816	0.94540	0.0:0.0:1.0:0.0	.	522;399;522	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	H	419;522;522;507;522;152	ENSP00000347190:D419H;ENSP00000304669:D522H;ENSP00000427821:D522H;ENSP00000438476:D152H	ENSP00000304669:D522H	D	+	1	0	CTNNA1	138288115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.756000	0.94617	0.655000	0.94253	GAT		0.473	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		5	17	0	0	0	0.217242	0	5	17				
FAM149A	25854	broad.mit.edu	37	4	187086549	187086549	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:187086549C>A	ENST00000356371.5	+	11	1968	c.1968C>A	c.(1966-1968)agC>agA	p.S656R	FAM149A_ENST00000503432.1_Missense_Mutation_p.S365R|FAM149A_ENST00000389354.5_Missense_Mutation_p.S365R|FAM149A_ENST00000227065.4_Missense_Mutation_p.S365R|FAM149A_ENST00000514153.1_Missense_Mutation_p.S365R|FAM149A_ENST00000502970.1_Missense_Mutation_p.S365R			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	656										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CGTCACGGAGCAGGTTCCCCC	0.542																																						ENST00000356371.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25						c.(1966-1968)agC>agA		family with sequence similarity 149, member A							111.0	102.0	105.0					4																	187086549		2203	4300	6503	SO:0001583	missense	25854							g.chr4:187086549C>A	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.1968C>A	4.37:g.187086549C>A	ENSP00000348732:p.Ser656Arg					FAM149A_ENST00000514153.1_Missense_Mutation_p.S365R|FAM149A_ENST00000389354.5_Missense_Mutation_p.S365R|FAM149A_ENST00000502970.1_Missense_Mutation_p.S365R|FAM149A_ENST00000227065.4_Missense_Mutation_p.S365R|FAM149A_ENST00000503432.1_Missense_Mutation_p.S365R	p.S656R			A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	11	1968	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	656					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Missense_Mutation	SNP	ENST00000356371.5	37	c.1968C>A		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	13.89|13.89|13.89	2.372682|2.372682|2.372682	0.42003|0.42003|0.42003	.|.|.	.|.|.	ENSG00000109794|ENSG00000109794|ENSG00000109794	ENST00000510843|ENST00000512271|ENST00000503432;ENST00000356371;ENST00000227065;ENST00000502970;ENST00000514153;ENST00000389354	.|.|T;T;T;T;T;T	.|.|0.12465	.|.|2.73;2.68;2.73;2.73;2.73;2.73	5.55|5.55|5.55	4.71|4.71|4.71	0.59529|0.59529|0.59529	.|.|.	.|.|0.431901	.|.|0.27130	.|.|N	.|.|0.020784	T|T|T	0.27419|0.27419|0.27419	0.0673|0.0673|0.0673	M|M|M	0.63428|0.63428|0.63428	1.95|1.95|1.95	0.25418|0.25418|0.25418	N|N|N	0.988295|0.988295|0.988295	.|.|D;D	.|.|0.61080	.|.|0.986;0.989	.|.|P;P	.|.|0.57057	.|.|0.812;0.797	T|T|T	0.06144|0.06144|0.06144	-1.0843|-1.0843|-1.0843	5|5|10	.|.|0.59425	.|.|D	.|.|0.04	-3.5497|-3.5497|-3.5497	11.5598|11.5598|11.5598	0.50769|0.50769|0.50769	0.0:0.9172:0.0:0.0828|0.0:0.9172:0.0:0.0828|0.0:0.9172:0.0:0.0828	.|.|.	.|.|656;656	.|.|A5PLN7-3;A5PLN7	.|.|.;F149A_HUMAN	E|K|R	43|43|365;656;365;365;365;365	.|.|ENSP00000426835:S365R;ENSP00000348732:S656R;ENSP00000227065:S365R;ENSP00000427155:S365R;ENSP00000424380:S365R;ENSP00000374005:S365R	.|.|ENSP00000227065:S365R	A|Q|S	+|+|+	2|1|3	0|0|2	FAM149A|FAM149A|FAM149A	187323543|187323543|187323543	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.551000|0.551000|0.551000	0.28230|0.28230|0.28230	0.030000|0.030000|0.030000	0.12068|0.12068|0.12068	2.703000|2.703000|2.703000	0.47110|0.47110|0.47110	1.586000|1.586000|1.586000	0.49944|0.49944|0.49944	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|CAG|AGC		0.542	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		10	33	1	0	6.40141e-05	0.387290	6.62524e-05	10	33				
LEPR	3953	broad.mit.edu	37	1	66070790	66070790	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:66070790G>C	ENST00000349533.6	+	11	1658	c.1473G>C	c.(1471-1473)caG>caC	p.Q491H	LEPR_ENST00000371060.3_Missense_Mutation_p.Q491H|LEPR_ENST00000371059.3_Missense_Mutation_p.Q491H|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Missense_Mutation_p.Q491H|LEPR_ENST00000371058.1_Missense_Mutation_p.Q491H|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	28					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTATTTGCAGAGTGATGGTT	0.368																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(1471-1473)caG>caC		leptin receptor							186.0	175.0	179.0					1																	66070790		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66070790G>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1473G>C	1.37:g.66070790G>C	ENSP00000330393:p.Gln491His					LEPR_ENST00000371059.3_Missense_Mutation_p.Q491H|LEPR_ENST00000344610.8_Missense_Mutation_p.Q491H|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.Q491H|LEPR_ENST00000371060.3_Missense_Mutation_p.Q491H	p.Q491H	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	11	1658	+			491					Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1473G>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.474040	0.26423	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	4.54	2.66	0.31614	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.423410	0.25549	N	0.029913	T	0.44008	0.1273	M	0.78223	2.4	0.80722	D	1	D;D;D	0.67145	0.993;0.996;0.993	D;D;D	0.70716	0.914;0.97;0.938	T	0.45585	-0.9251	10	0.72032	D	0.01	-1.7777	7.6931	0.28579	0.3309:0.0:0.6691:0.0	.	491;491;491	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	H	491	ENSP00000340884:Q491H;ENSP00000330393:Q491H;ENSP00000360099:Q491H;ENSP00000360098:Q491H;ENSP00000360097:Q491H	ENSP00000340884:Q491H	Q	+	3	2	LEPR	65843378	1.000000	0.71417	0.723000	0.30687	0.099000	0.18886	3.425000	0.52771	0.470000	0.27294	-0.384000	0.06662	CAG		0.368	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		25	61	0	0	0	0.681144	0	25	61				
ZBTB43	23099	broad.mit.edu	37	9	129596134	129596134	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:129596134C>T	ENST00000373464.4	+	3	1610	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	ZBTB43_ENST00000449886.1_Missense_Mutation_p.S449F|ZBTB43_ENST00000373457.1_Missense_Mutation_p.S449F	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CATGTGACTTCTTGTACTAAG	0.443																																						ENST00000373464.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1345-1347)tCt>tTt		zinc finger and BTB domain containing 43							125.0	130.0	128.0					9																	129596134		2202	4295	6497	SO:0001583	missense	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129596134C>T	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.1346C>T	9.37:g.129596134C>T	ENSP00000362563:p.Ser449Phe					ZBTB43_ENST00000449886.1_Missense_Mutation_p.S449F|ZBTB43_ENST00000373457.1_Missense_Mutation_p.S449F	p.S449F	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN			3	1610	+			449					Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	c.1346C>T	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827174	0.50739	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.12147	2.71;2.71;2.71	5.83	4.94	0.65067	Zinc finger, C2H2 (1);	0.066653	0.64402	D	0.000007	T	0.11024	0.0269	N	0.19112	0.55	0.42207	D	0.99179	B	0.17852	0.024	B	0.11329	0.006	T	0.06023	-1.0850	10	0.59425	D	0.04	.	14.9038	0.70703	0.0:0.9314:0.0:0.0686	.	449	O43298	ZBT43_HUMAN	F	449	ENSP00000390344:S449F;ENSP00000362563:S449F;ENSP00000362556:S449F	ENSP00000362556:S449F	S	+	2	0	ZBTB43	128635955	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.221000	0.65272	1.478000	0.48253	-0.136000	0.14681	TCT		0.443	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		37	127	0	0	0	0.834066	0	37	127				
MIR509-1	574514	broad.mit.edu	37	X	146340318	146340318	+	RNA	SNP	T	T	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:146340318T>A	ENST00000385265.1	-	0	94				MIR509-3_ENST00000390725.1_RNA|MIR509-2_ENST00000390724.1_RNA	NR_030236.1|NR_030586.1				microRNA 509-1																		CCAATCATTTTTAATTATACA	0.453																																						ENST00000390724.1																			0																				60.0	57.0	58.0					X																	146340318		1568	3570	5138			100126301							g.chrX:146340318T>A			Xq27.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000208000	ENSG00000208000		"""ncRNAs / Micro RNAs"""	32146	non-coding RNA	RNA, micro		300875	"""microRNA 509"""	MIRN509, MIRN509-1			Standard	NR_030236		Approved	hsa-mir-509, hsa-mir-509-1	uc022cfy.1				X.37:g.146340318T>A								NR_030586.1						0	50	-									RNA	SNP	ENST00000385265.1	37																																																																																						0.453	MIR509-1-201	KNOWN	basic	miRNA	miRNA		NR_030236		21	38	0	0	0	0.840704	0	21	38				
IGHV2-26	28455	broad.mit.edu	37	14	106757863	106757863	+	RNA	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr14:106757863G>A	ENST00000390611.2	-	0	167									immunoglobulin heavy variable 2-26																		TAGCATTGCTGAGTGAGAACC	0.557																																						ENST00000390611.2																			0																				54.0	51.0	52.0					14																	106757863		1987	4163	6150			28455							g.chr14:106757863G>A	M99648		14q32.33	2012-02-08			ENSG00000211951	ENSG00000211951		"""Immunoglobulins / IGH locus"""	5575	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152100		14.37:g.106757863G>A														0	167	-									RNA	SNP	ENST00000390611.2	37																																																																																						0.557	IGHV2-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325197.1	NG_001019		16	29	0	0	0	0.500413	0	16	29				
ZC3H4	23211	broad.mit.edu	37	19	47575163	47575163	+	Missense_Mutation	SNP	G	G	T	rs149041592		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:47575163G>T	ENST00000253048.5	-	13	2055	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	673	Pro-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.P673L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGGCCGTAGGGCATCATTGG	0.607																																						ENST00000253048.5																			1	Substitution - Missense(1)	p.P673L(1)	skin(1)	NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2017-2019)cCc>cAc		zinc finger CCCH-type containing 4							35.0	41.0	39.0					19																	47575163		2035	4185	6220	SO:0001583	missense	23211						nucleic acid binding|zinc ion binding	g.chr19:47575163G>T	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2018C>A	19.37:g.47575163G>T	ENSP00000253048:p.Pro673His					ZC3H4_ENST00000594019.1_Intron	p.P673H	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	13	2055	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	673			Pro-rich.		Q9Y420	Missense_Mutation	SNP	ENST00000253048.5	37	c.2018C>A	CCDS42582.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438062	0.43326	.	.	ENSG00000130749	ENST00000253048	T	0.18016	2.24	5.35	5.35	0.76521	.	0.618694	0.15653	N	0.251303	T	0.17492	0.0420	L	0.36672	1.1	0.35600	D	0.807777	B	0.29612	0.251	B	0.24701	0.055	T	0.13710	-1.0499	10	0.54805	T	0.06	.	17.8281	0.88672	0.0:0.0:1.0:0.0	.	673	Q9UPT8	ZC3H4_HUMAN	H	673	ENSP00000253048:P673H	ENSP00000253048:P673H	P	-	2	0	ZC3H4	52267003	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	4.898000	0.63238	2.507000	0.84556	0.643000	0.83706	CCC		0.607	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			6	16	1	0	0.00116845	0.217242	0.00117639	6	16				
PC	5091	broad.mit.edu	37	11	66618354	66618354	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:66618354A>G	ENST00000393958.2	-	17	2357	c.2264T>C	c.(2263-2265)cTg>cCg	p.L755P	PC_ENST00000393960.1_Missense_Mutation_p.L755P|PC_ENST00000529047.1_5'Flank|PC_ENST00000528224.1_5'Flank|PC_ENST00000393955.2_Missense_Mutation_p.L755P	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	755	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GGAGCTGACCAGCATGGTGCA	0.662																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2263-2265)cTg>cCg		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						41.0	46.0	44.0					11																	66618354		2200	4294	6494	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66618354A>G	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2264T>C	11.37:g.66618354A>G	ENSP00000377530:p.Leu755Pro					PC_ENST00000393958.2_Missense_Mutation_p.L755P|PC_ENST00000393955.2_Missense_Mutation_p.L755P	p.L755P	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	18	2545	-		Melanoma(852;0.0525)	755			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2264T>C	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239801	0.79912	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.98747	-5.11;-5.11;-5.11	4.28	4.28	0.50868	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.171396	0.39985	N	0.001205	D	0.99450	0.9805	H	0.98936	4.375	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.98166	1.0449	10	0.87932	D	0	-14.3786	11.4475	0.50131	1.0:0.0:0.0:0.0	.	755	P11498	PYC_HUMAN	P	755	ENSP00000377527:L755P;ENSP00000377530:L755P;ENSP00000377532:L755P	ENSP00000377527:L755P	L	-	2	0	PC	66374930	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.859000	0.75467	1.816000	0.52996	0.533000	0.62120	CTG		0.662	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		7	13	0	0	0	0.278610	0	7	13				
DHX57	90957	broad.mit.edu	37	2	39065051	39065051	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:39065051C>T	ENST00000295373.6	-	13	2590	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	822							ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTTTCAAAATCCATGATGGAC	0.358																																					Melanoma(191;1090 2095 4375 23729 47341)	ENST00000295373.6																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2464-2466)Gat>Aat		DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57							150.0	138.0	142.0					2																	39065051		2203	4300	6503	SO:0001583	missense	90957						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr2:39065051C>T	AF070590	CCDS1800.1	2p22.3	2008-02-05			ENSG00000163214	ENSG00000163214		"""DEAH-boxes"""	20086	protein-coding gene	gene with protein product							Standard	NM_198963		Approved	DDX57	uc002rrf.3	Q6P158	OTTHUMG00000102103	ENST00000295373.6:c.2464G>A	2.37:g.39065051C>T	ENSP00000295373:p.Asp822Asn						p.D822N	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN			13	2590	-		all_hematologic(82;0.248)	822					A2RRC7|Q53SI4|Q6P9G1|Q7Z6H3|Q8NG17|Q96M33	Missense_Mutation	SNP	ENST00000295373.6	37	c.2464G>A	CCDS1800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.436235|4.436235	0.83885|0.83885	.|.	.|.	ENSG00000163214|ENSG00000163214	ENST00000295373|ENST00000452978	T|.	0.03242|.	4.0|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.52532|.	D|.	0.000065|.	T|T	0.49218|0.49218	0.1544|0.1544	N|N	0.13371|0.13371	0.34|0.34	0.53688|0.53688	D|D	0.999977|0.999977	B;B;B|.	0.32338|.	0.032;0.123;0.365|.	B;B;B|.	0.27500|.	0.068;0.031;0.08|.	T|T	0.44190|0.44190	-0.9344|-0.9344	10|5	0.24483|.	T|.	0.36|.	.|.	16.615|16.615	0.84904|0.84904	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	822;822;214|.	Q6P158;B4DKW2;Q59G60|.	DHX57_HUMAN;.;.|.	N|E	822|145	ENSP00000295373:D822N|.	ENSP00000295373:D822N|.	D|G	-|-	1|2	0|0	DHX57|DHX57	38918555|38918555	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.723000|5.723000	0.68492|0.68492	2.512000|2.512000	0.84698|0.84698	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.358	DHX57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219940.2	NM_145646		20	34	0	0	0	0.575678	0	20	34				
NOS3	4846	broad.mit.edu	37	7	150695737	150695737	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:150695737G>A	ENST00000484524.1	+	6	785	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NOS3_ENST00000467517.1_Missense_Mutation_p.R262Q|NOS3_ENST00000461406.1_Missense_Mutation_p.R56Q|NOS3_ENST00000297494.3_Missense_Mutation_p.R262Q	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTCTGTGCGGGGGGACCCA	0.652																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(784-786)cGg>cAg		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						13.0	13.0	13.0					7																	150695737		2178	4274	6452	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150695737G>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.785G>A	7.37:g.150695737G>A	ENSP00000420215:p.Arg262Gln					NOS3_ENST00000461406.1_Missense_Mutation_p.R56Q|NOS3_ENST00000467517.1_Missense_Mutation_p.R262Q|NOS3_ENST00000484524.1_Missense_Mutation_p.R262Q	p.R262Q	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	7	1142	+	all_neural(206;0.219)		262			Interaction with NOSIP.		Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	c.785G>A	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.756054	0.49362	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.0	2.0	0.26442	Nitric oxide synthase, oxygenase domain (2);	0.306973	0.22925	N	0.053964	T	0.07908	0.0198	N	0.03608	-0.345	0.30076	N	0.809627	B;B;B;B;B	0.15930	0.001;0.001;0.004;0.002;0.015	B;B;B;B;B	0.08055	0.0;0.001;0.003;0.001;0.0	T	0.09228	-1.0684	10	0.46703	T	0.11	-9.7242	5.7049	0.17903	0.094:0.0:0.4347:0.4713	.	262;262;262;56;262	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	Q	262;56;262;262	ENSP00000297494:R262Q;ENSP00000417143:R56Q;ENSP00000420215:R262Q;ENSP00000420551:R262Q	ENSP00000297494:R262Q	R	+	2	0	NOS3	150326670	0.737000	0.28175	0.956000	0.39512	0.788000	0.44548	2.139000	0.42149	1.225000	0.43566	0.542000	0.68232	CGG		0.652	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		3	8	0	0	0	0.115264	0	3	8				
GPT2	84706	broad.mit.edu	37	16	46934667	46934667	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:46934667G>T	ENST00000340124.4	+	4	519	c.407G>T	c.(406-408)cGg>cTg	p.R136L	GPT2_ENST00000440783.2_Missense_Mutation_p.R36L	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	136					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	AAACGTGCCCGGCGGATCCTG	0.617																																						ENST00000440783.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23						c.(106-108)cGg>cTg		glutamic pyruvate transaminase (alanine aminotransferase) 2	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						74.0	69.0	71.0					16																	46934667		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46934667G>T		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.407G>T	16.37:g.46934667G>T	ENSP00000345282:p.Arg136Leu					GPT2_ENST00000340124.4_Missense_Mutation_p.R136L	p.R36L	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN			4	772	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	136					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.107G>T	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528407	0.64860	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	D;D	0.90197	-2.63;-2.63	5.4	4.45	0.53987	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.107097	0.64402	D	0.000010	D	0.92916	0.7746	M	0.90369	3.11	0.58432	D	0.999996	P	0.41498	0.752	B	0.43052	0.406	D	0.93881	0.7171	10	0.72032	D	0.01	.	14.2795	0.66202	0.0711:0.0:0.9289:0.0	.	136	Q8TD30	ALAT2_HUMAN	L	136;36	ENSP00000345282:R136L;ENSP00000413804:R36L	ENSP00000345282:R136L	R	+	2	0	GPT2	45492168	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.319000	0.59197	1.526000	0.49068	-0.140000	0.14226	CGG		0.617	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			11	25	1	0	2.80697e-09	0.387290	3.01038e-09	11	25				
TTC21A	199223	broad.mit.edu	37	3	39178436	39178436	+	Missense_Mutation	SNP	C	C	T	rs200397655		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:39178436C>T	ENST00000431162.2	+	24	3297	c.3163C>T	c.(3163-3165)Cgc>Tgc	p.R1055C	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1007C|TTC21A_ENST00000301819.6_Missense_Mutation_p.R1056C			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1055			R -> L (in dbSNP:rs35934336). {ECO:0000269|PubMed:14702039}.							NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAACAAGGCACGCAAGGACAG	0.547													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21228	0.0		0.0	False		,,,				2504	0.0					ENST00000301819.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50						c.(3166-3168)Cgc>Tgc		tetratricopeptide repeat domain 21A							110.0	115.0	113.0					3																	39178436		2102	4225	6327	SO:0001583	missense	199223						binding	g.chr3:39178436C>T	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3163C>T	3.37:g.39178436C>T	ENSP00000398211:p.Arg1055Cys					TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.R1055C|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1007C	p.R1056C	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	24	3343	+			1055					A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	c.3166C>T	CCDS46800.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	16.40	3.111840	0.56398	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.38077	1.16;1.16;1.16	4.85	4.85	0.62838	Tetratricopeptide-like helical (1);	0.090927	0.40469	N	0.001085	T	0.66117	0.2757	M	0.90082	3.085	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	T	0.71849	-0.4468	10	0.45353	T	0.12	-17.788	14.9103	0.70752	0.0:1.0:0.0:0.0	.	1007;1056;1055	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	C	1056;1038;1055;1007	ENSP00000301819:R1056C;ENSP00000398211:R1055C;ENSP00000410882:R1007C	ENSP00000301819:R1056C	R	+	1	0	TTC21A	39153440	0.988000	0.35896	0.920000	0.36463	0.428000	0.31595	2.830000	0.48136	2.237000	0.73441	0.462000	0.41574	CGC		0.547	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755		10	58	0	0	0	0.361761	0	10	58				
BAI2	576	broad.mit.edu	37	1	32207757	32207757	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:32207757C>T	ENST00000373658.3	-	8	1655	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	BAI2_ENST00000398542.1_Silent_p.G371G|BAI2_ENST00000373655.2_Silent_p.G438G|BAI2_ENST00000527361.1_Silent_p.G438G|BAI2_ENST00000257070.4_Silent_p.G438G|BAI2_ENST00000398547.1_Silent_p.G371G|BAI2_ENST00000440175.2_Silent_p.G80G|BAI2_ENST00000398538.1_Silent_p.G426G|BAI2_ENST00000398556.3_Silent_p.G386G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	438	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGTTGGGTCCCATTGGCAC	0.662																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1312-1314)ggG>ggA		brain-specific angiogenesis inhibitor 2							42.0	46.0	44.0					1																	32207757		2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32207757C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1314G>A	1.37:g.32207757C>T						BAI2_ENST00000398547.1_Silent_p.G371G|BAI2_ENST00000257070.4_Silent_p.G438G|BAI2_ENST00000398556.3_Silent_p.G386G|BAI2_ENST00000440175.2_Silent_p.G80G|BAI2_ENST00000398538.1_Silent_p.G426G|BAI2_ENST00000527361.1_Silent_p.G438G|BAI2_ENST00000373655.2_Silent_p.G438G|BAI2_ENST00000398542.1_Silent_p.G371G	p.G438G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	8	1655	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	438			TSP type-1 3.		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.1314G>A	CCDS346.2																																																																																				0.662	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		18	30	0	0	0	0.539581	0	18	30				
CELF3	11189	broad.mit.edu	37	1	151688428	151688428	+	Silent	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:151688428C>G	ENST00000290583.4	-	1	862	c.69G>C	c.(67-69)ctG>ctC	p.L23L	CELF3_ENST00000290585.4_Silent_p.L23L|AL589765.1_ENST00000442233.2_Intron|RIIAD1_ENST00000326413.3_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	23	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGATGGGCTTCAGGTCCTTCT	0.597																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(67-69)ctG>ctC		CUGBP, Elav-like family member 3							104.0	92.0	96.0					1																	151688428		2203	4300	6503	SO:0001819	synonymous_variant	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151688428C>G	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.69G>C	1.37:g.151688428C>G						AL589765.1_ENST00000442233.2_Intron|RIIAD1_ENST00000326413.3_Intron|CELF3_ENST00000290585.4_Silent_p.L23L	p.L23L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			1	862	-			23			RRM 1.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	c.69G>C	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	C	7.375	0.627534	0.14257	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.88	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.2224	8.0739	0.30706	0.181:0.644:0.175:0.0	.	.	.	.	S	25	.	.	X	-	2	2	CELF3	149955052	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.989000	0.29629	1.248000	0.43934	0.478000	0.44815	TGA		0.597	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		4	28	0	0	0	0.150653	0	4	28				
OR1D2	4991	broad.mit.edu	37	17	2995717	2995717	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:2995717T>C	ENST00000331459.1	-	1	573	c.574A>G	c.(574-576)Att>Gtt	p.I192V		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	192					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TTAATCTGAATGTTGGAACAT	0.448																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(574-576)Att>Gtt		olfactory receptor, family 1, subfamily D, member 2							118.0	106.0	110.0					17																	2995717		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995717T>C	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.574A>G	17.37:g.2995717T>C	ENSP00000327585:p.Ile192Val						p.I192V	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	573	-			192					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.574A>G	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	t	2.994	-0.207627	0.06180	.	.	ENSG00000184166	ENST00000331459	T	0.00107	8.72	3.21	2.12	0.27331	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.31371	0.925	0.09310	N	0.999998	B	0.12013	0.005	B	0.28139	0.086	T	0.32295	-0.9912	9	0.72032	D	0.01	.	3.8955	0.09138	0.1854:0.1132:0.0:0.7014	.	192	P34982	OR1D2_HUMAN	V	192	ENSP00000327585:I192V	ENSP00000327585:I192V	I	-	1	0	OR1D2	2942467	0.064000	0.20934	0.083000	0.20561	0.068000	0.16541	1.113000	0.31184	0.322000	0.23283	-0.425000	0.05940	ATT		0.448	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		14	39	0	0	0	0.457914	0	14	39				
CADM3	57863	broad.mit.edu	37	1	159162470	159162470	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:159162470C>G	ENST00000368125.4	+	3	489	c.332C>G	c.(331-333)tCa>tGa	p.S111*	CADM3_ENST00000368124.4_Nonsense_Mutation_p.S145*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	111	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TACACCTGCTCAATCTTCACT	0.537																																						ENST00000368125.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(331-333)tCa>tGa		cell adhesion molecule 3							197.0	151.0	167.0					1																	159162470		2203	4300	6503	SO:0001587	stop_gained	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159162470C>G	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.332C>G	1.37:g.159162470C>G	ENSP00000357107:p.Ser111*					CADM3_ENST00000368124.4_Nonsense_Mutation_p.S145*	p.S111*	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN			3	489	+	all_hematologic(112;0.0429)		111			Ig-like V-type.		Q8IZQ9|Q9NVJ5|Q9UJP1	Nonsense_Mutation	SNP	ENST00000368125.4	37	c.332C>G	CCDS44251.1	.	.	.	.	.	.	.	.	.	.	C	37	5.990018	0.97179	.	.	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	.	.	.	5.22	4.32	0.51571	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	11.6283	0.51158	0.0:0.9147:0.0:0.0853	.	.	.	.	X	145;111;111	.	ENSP00000357106:S145X	S	+	2	0	CADM3	157429094	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.441000	0.66569	1.433000	0.47394	-0.145000	0.13849	TCA		0.537	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		26	45	0	0	0	0.667858	0	26	45				
ZNF382	84911	broad.mit.edu	37	19	37118156	37118156	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:37118156C>T	ENST00000292928.2	+	5	1470	c.1357C>T	c.(1357-1359)Ctc>Ttc	p.L453F	ZNF382_ENST00000435416.1_Missense_Mutation_p.L452F|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.L452F|ZNF382_ENST00000423582.1_Missense_Mutation_p.L404F	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	453	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCCTCACTCTCCACCAGAG	0.453																																						ENST00000435416.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34						c.(1354-1356)Ctc>Ttc		zinc finger protein 382							52.0	56.0	55.0					19																	37118156		2203	4300	6503	SO:0001583	missense	84911				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37118156C>T	AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.1357C>T	19.37:g.37118156C>T	ENSP00000292928:p.Leu453Phe					ZNF382_ENST00000292928.2_Missense_Mutation_p.L453F|ZNF382_ENST00000423582.1_Missense_Mutation_p.L404F|ZNF382_ENST00000439428.1_Missense_Mutation_p.L452F	p.L452F			Q96SR6	ZN382_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	2849	+	Esophageal squamous(110;0.198)		453			Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	Missense_Mutation	SNP	ENST00000292928.2	37	c.1354C>T	CCDS33004.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.253707	0.39797	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	4.27	3.14	0.36123	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39020	N	0.001487	T	0.19805	0.0476	L	0.28740	0.885	0.22851	N	0.998651	D;D;D	0.61080	0.986;0.986;0.989	P;P;P	0.60789	0.808;0.808;0.879	T	0.08680	-1.0710	10	0.14656	T	0.56	.	9.0118	0.36146	0.3265:0.6735:0.0:0.0	.	452;452;453	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	F	404;453;452;452	ENSP00000389722:L404F;ENSP00000292928:L453F;ENSP00000407593:L452F;ENSP00000410113:L452F	ENSP00000292928:L453F	L	+	1	0	ZNF382	41809996	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-2.131000	0.01311	2.375000	0.81037	0.591000	0.81541	CTC		0.453	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109562.2	NM_032825		9	35	0	0	0	0.335167	0	9	35				
TRIM27	5987	broad.mit.edu	37	6	28871933	28871933	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:28871933G>A	ENST00000377199.3	-	8	1812	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	486	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ATGATCAGAGGAGCTGCACTT	0.522			T	RET	papillary thyroid																																	ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1456-1458)Cct>Tct		tripartite motif containing 27							113.0	123.0	120.0					6																	28871933		1509	2709	4218	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28871933G>A	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1456C>T	6.37:g.28871933G>A	ENSP00000366404:p.Pro486Ser					TRIM27_ENST00000377194.3_3'UTR	p.P486S	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			8	1812	-			486			B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.1456C>T	CCDS4654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.09|19.09	3.760250|3.760250	0.69763|0.69763	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000377199|ENST00000414543	T|.	0.68479|.	-0.33|.	4.89|4.89	4.89|4.89	0.63831|0.63831	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);|.	0.000000|.	0.53938|.	D|.	0.000056|.	T|T	0.54498|0.54498	0.1862|0.1862	L|L	0.58302|0.58302	1.8|1.8	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.53114|0.53114	-0.8484|-0.8484	10|5	0.66056|.	D|.	0.02|.	.|.	12.1025|12.1025	0.53792|0.53792	0.0:0.1741:0.8259:0.0|0.0:0.1741:0.8259:0.0	.|.	486|.	P14373|.	TRI27_HUMAN|.	S|F	486|220	ENSP00000366404:P486S|.	ENSP00000366404:P486S|.	P|S	-|-	1|2	0|0	TRIM27|TRIM27	28979912|28979912	0.999000|0.999000	0.42202|0.42202	0.997000|0.997000	0.53966|0.53966	0.937000|0.937000	0.57800|0.57800	3.096000|3.096000	0.50243|0.50243	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	CCT|TCC		0.522	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		22	69	0	0	0	0.608945	0	22	69				
ZBTB16	7704	broad.mit.edu	37	11	113934865	113934865	+	Silent	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:113934865G>T	ENST00000335953.4	+	2	1223	c.843G>T	c.(841-843)ggG>ggT	p.G281G	ZBTB16_ENST00000392996.2_Silent_p.G281G	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	281					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGGGGCCTGGGACCCCGACTC	0.647																																						ENST00000335953.4																			0				central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6						c.(841-843)ggG>ggT		zinc finger and BTB domain containing 16							50.0	43.0	46.0					11																	113934865		2201	4296	6497	SO:0001819	synonymous_variant	7704				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	g.chr11:113934865G>T	Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.843G>T	11.37:g.113934865G>T						ZBTB16_ENST00000392996.2_Silent_p.G281G	p.G281G	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)	2	1223	+		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)	281					Q8TAL4	Silent	SNP	ENST00000335953.4	37	c.843G>T	CCDS8367.1																																																																																				0.647	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		7	21	1	0	0.000274275	0.307466	0.00027995	7	21				
TLL1	7092	broad.mit.edu	37	4	166929097	166929097	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:166929097C>G	ENST00000061240.2	+	7	1461	c.814C>G	c.(814-816)Caa>Gaa	p.Q272E	TLL1_ENST00000507499.1_Missense_Mutation_p.Q272E|TLL1_ENST00000513213.1_Missense_Mutation_p.Q272E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	272	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTTCTTAGGTCAAGAGTACAA	0.408																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(814-816)Caa>Gaa		tolloid-like 1							89.0	90.0	89.0					4																	166929097		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166929097C>G	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.814C>G	4.37:g.166929097C>G	ENSP00000061240:p.Gln272Glu					TLL1_ENST00000513213.1_Missense_Mutation_p.Q272E|TLL1_ENST00000507499.1_Missense_Mutation_p.Q272E	p.Q272E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	7	1461	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	272			Metalloprotease (By similarity).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.814C>G	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412426	0.62511	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.63417	-0.04;-0.04;-0.04	5.29	5.29	0.74685	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	T	0.58380	0.2118	L	0.45285	1.41	0.80722	D	1	B;B	0.15141	0.012;0.009	B;B	0.12156	0.007;0.003	T	0.54970	-0.8213	10	0.51188	T	0.08	.	18.9969	0.92817	0.0:1.0:0.0:0.0	.	272;272	E9PD25;O43897	.;TLL1_HUMAN	E	272	ENSP00000061240:Q272E;ENSP00000426082:Q272E;ENSP00000422937:Q272E	ENSP00000061240:Q272E	Q	+	1	0	TLL1	167148547	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.773000	0.85462	2.488000	0.83962	0.650000	0.86243	CAA		0.408	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			17	39	0	0	0	0.539581	0	17	39				
ILVBL	10994	broad.mit.edu	37	19	15230101	15230101	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:15230101C>G	ENST00000263383.3	-	9	1066	c.927G>C	c.(925-927)gaG>gaC	p.E309D	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.E202D	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	309						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCCAAGGTCTCCACGGCAG	0.672																																						ENST00000263383.3																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						c.(925-927)gaG>gaC		ilvB (bacterial acetolactate synthase)-like							51.0	54.0	53.0					19																	15230101		2203	4300	6503	SO:0001583	missense	10994					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity	g.chr19:15230101C>G	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.927G>C	19.37:g.15230101C>G	ENSP00000263383:p.Glu309Asp					ILVBL_ENST00000534378.1_Missense_Mutation_p.E202D|ILVBL_ENST00000531635.1_5'UTR	p.E309D	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN			9	1066	-			309					O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Missense_Mutation	SNP	ENST00000263383.3	37	c.927G>C	CCDS12325.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924716	0.52653	.	.	ENSG00000105135	ENST00000263383	T	0.56611	0.45	5.14	4.11	0.48088	Thiamine pyrophosphate enzyme, central domain (1);	0.047799	0.85682	D	0.000000	T	0.67515	0.2901	M	0.76574	2.34	0.52099	D	0.999944	P	0.48350	0.909	P	0.60609	0.877	T	0.69551	-0.5115	10	0.59425	D	0.04	-44.173	10.9978	0.47587	0.0:0.9088:0.0:0.0912	.	309	A1L0T0	ILVBL_HUMAN	D	309	ENSP00000263383:E309D	ENSP00000263383:E309D	E	-	3	2	ILVBL	15091101	1.000000	0.71417	1.000000	0.80357	0.240000	0.25518	3.413000	0.52686	1.169000	0.42739	0.561000	0.74099	GAG		0.672	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		10	36	0	0	0	0.387290	0	10	36				
DPYS	1807	broad.mit.edu	37	8	105393527	105393527	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:105393527G>C	ENST00000351513.2	-	9	1591	c.1459C>G	c.(1459-1461)Cct>Gct	p.P487A	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	487					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGCTCCACAGGGGTAGGTGTG	0.473																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1459-1461)Cct>Gct		dihydropyrimidinase							191.0	165.0	174.0					8																	105393527		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105393527G>C	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1459C>G	8.37:g.105393527G>C	ENSP00000276651:p.Pro487Ala					DPYS_ENST00000521601.1_5'UTR	p.P487A	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		9	1591	-			487						Missense_Mutation	SNP	ENST00000351513.2	37	c.1459C>G	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	G	9.958	1.221943	0.22457	.	.	ENSG00000147647	ENST00000351513	D	0.97186	-4.28	5.85	4.95	0.65309	Metal-dependent hydrolase, composite domain (1);	0.108909	0.64402	D	0.000005	D	0.89808	0.6822	N	0.04508	-0.205	0.19300	N	0.999977	B	0.02656	0.0	B	0.01281	0.0	T	0.72707	-0.4212	10	0.07482	T	0.82	-16.6013	14.1177	0.65164	0.0:0.1493:0.8507:0.0	.	487	Q14117	DPYS_HUMAN	A	487	ENSP00000276651:P487A	ENSP00000276651:P487A	P	-	1	0	DPYS	105462703	0.988000	0.35896	0.062000	0.19696	0.496000	0.33645	3.207000	0.51106	2.771000	0.95319	0.561000	0.74099	CCT		0.473	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		13	53	0	0	0	0.500413	0	13	53				
TRAPPC9	83696	broad.mit.edu	37	8	141370156	141370156	+	Silent	SNP	C	C	G	rs201180771		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:141370156C>G	ENST00000438773.2	-	9	1621	c.1488G>C	c.(1486-1488)tcG>tcC	p.S496S	TRAPPC9_ENST00000389328.4_Silent_p.S594S|TRAPPC9_ENST00000389327.3_Silent_p.S487S	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	496					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CACCCTGATCCGACAAGAAGT	0.498																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(1780-1782)tcG>tcC		trafficking protein particle complex 9							104.0	94.0	97.0					8																	141370156		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141370156C>G	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1488G>C	8.37:g.141370156C>G						TRAPPC9_ENST00000438773.2_Silent_p.S496S|TRAPPC9_ENST00000389327.3_Silent_p.S487S	p.S594S	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			9	1796	-			496					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.1782G>C	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	4.765	0.142324	0.09083	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.12	-10.2	0.00374	.	.	.	.	.	T	0.30324	0.0761	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41893	-0.9483	4	.	.	.	.	0.2067	0.00151	0.3021:0.2394:0.2161:0.2424	.	.	.	.	R	340	.	.	G	-	1	0	TRAPPC9	141439338	0.001000	0.12720	0.109000	0.21407	0.766000	0.43426	-1.793000	0.01755	-2.985000	0.00281	-2.232000	0.00291	GGA		0.498	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		18	64	0	0	0	0.557998	0	18	64				
SPANXN5	494197	broad.mit.edu	37	X	52825613	52825613	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:52825613G>C	ENST00000375511.3	-	2	886	c.134C>G	c.(133-135)aCa>aGa	p.T45R		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	45										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					ATATTCTGATGTTTTCATCTT	0.393																																						ENST00000375511.3																			0				large_intestine(1)|lung(5)|skin(2)	8						c.(133-135)aCa>aGa		SPANX family, member N5							211.0	176.0	188.0					X																	52825613		2203	4300	6503	SO:0001583	missense	494197							g.chrX:52825613G>C		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.134C>G	X.37:g.52825613G>C	ENSP00000364661:p.Thr45Arg						p.T45R	NM_001009616.2	NP_001009616.1	Q5MJ07	SPXN5_HUMAN			2	886	-	Ovarian(276;0.236)		45						Missense_Mutation	SNP	ENST00000375511.3	37	c.134C>G	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	g	5.610	0.297235	0.10622	.	.	ENSG00000204363	ENST00000375511	T	0.11495	2.77	0.199	-0.397	0.12423	.	.	.	.	.	T	0.11623	0.0283	.	.	.	0.09310	N	1	P	0.49559	0.925	P	0.48270	0.572	T	0.15037	-1.0451	7	0.52906	T	0.07	.	.	.	.	.	45	Q5MJ07	SPXN5_HUMAN	R	45	ENSP00000364661:T45R	ENSP00000364661:T45R	T	-	2	0	SPANXN5	52842338	0.080000	0.21391	0.006000	0.13384	0.006000	0.05464	0.227000	0.17795	-0.909000	0.03852	-0.915000	0.02750	ACA		0.393	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		3	47	0	0	0	0.150653	0	3	47				
AZGP1P1	646282	broad.mit.edu	37	7	99580934	99580934	+	RNA	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:99580934G>A	ENST00000425474.1	+	0	255					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		AGGAGTAGAGGACTGGGAGAA	0.532																																						ENST00000425474.1																			0																																																			646282							g.chr7:99580934G>A	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99580934G>A								NR_036679.1						0	255	+									RNA	SNP	ENST00000425474.1	37																																																																																						0.532	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			7	16	0	0	0	0.248553	0	7	16				
MRPL55	128308	broad.mit.edu	37	1	228295553	228295553	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:228295553G>A	ENST00000411464.2	-	4	837	c.44C>T	c.(43-45)aCc>aTc	p.T15I	MRPL55_ENST00000366736.1_Missense_Mutation_p.T15I|MRPL55_ENST00000295008.4_Missense_Mutation_p.T15I|MRPL55_ENST00000366735.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366732.1_Missense_Mutation_p.T12I|MRPL55_ENST00000391867.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366746.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366747.3_Missense_Mutation_p.T15I|MRPL55_ENST00000336520.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366738.1_Missense_Mutation_p.T51I|MRPL55_ENST00000366744.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366734.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366739.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366740.1_Missense_Mutation_p.T15I|MRPL55_ENST00000348259.5_Missense_Mutation_p.T15I|C1orf35_ENST00000472617.1_5'Flank|MRPL55_ENST00000366731.5_Missense_Mutation_p.T51I|MRPL55_ENST00000366742.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366741.1_Missense_Mutation_p.T15I|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000430433.1_Missense_Mutation_p.T51I|MRPL55_ENST00000336300.5_Missense_Mutation_p.T15I|MRPL55_ENST00000366733.1_Missense_Mutation_p.T15I			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	15					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				GGCCTTCACGGTGCTCTGCCT	0.617																																						ENST00000366731.5																			0				central_nervous_system(1)|lung(4)	5						c.(151-153)aCc>aTc		mitochondrial ribosomal protein L55							50.0	47.0	48.0					1																	228295553		2203	4300	6503	SO:0001583	missense	128308				translation	mitochondrial large ribosomal subunit	structural constituent of ribosome	g.chr1:228295553G>A	AK056987	CCDS1567.1, CCDS44325.1	1q42.13	2012-09-13			ENSG00000162910	ENSG00000162910		"""Mitochondrial ribosomal proteins / large subunits"""	16686	protein-coding gene	gene with protein product		611859					Standard	NM_181463		Approved		uc001hrz.4	Q7Z7F7	OTTHUMG00000037965	ENST00000411464.2:c.44C>T	1.37:g.228295553G>A	ENSP00000401737:p.Thr15Ile					MRPL55_ENST00000411464.2_Missense_Mutation_p.T15I|MRPL55_ENST00000366739.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366732.1_Missense_Mutation_p.T12I|MRPL55_ENST00000430433.1_Missense_Mutation_p.T51I|MRPL55_ENST00000366741.1_Missense_Mutation_p.T15I|MRPL55_ENST00000295008.4_Missense_Mutation_p.T15I|MRPL55_ENST00000391867.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366736.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366742.1_Missense_Mutation_p.T15I|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366746.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366744.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366733.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366747.3_Missense_Mutation_p.T15I|MRPL55_ENST00000366740.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366738.1_Missense_Mutation_p.T51I|MRPL55_ENST00000366735.1_Missense_Mutation_p.T15I|MRPL55_ENST00000366734.1_Missense_Mutation_p.T15I|MRPL55_ENST00000336300.5_Missense_Mutation_p.T15I|MRPL55_ENST00000336520.3_Missense_Mutation_p.T15I|MRPL55_ENST00000348259.5_Missense_Mutation_p.T15I	p.T51I			Q7Z7F7	RM55_HUMAN			5	945	-		Prostate(94;0.0405)	15					Q5TBY3|Q5TBY6|Q6UWI8	Missense_Mutation	SNP	ENST00000411464.2	37	c.152C>T	CCDS1567.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.268984	0.23221	.	.	ENSG00000162910	ENST00000366732;ENST00000366733;ENST00000366734;ENST00000366735;ENST00000366736;ENST00000366738;ENST00000366741;ENST00000366740;ENST00000366739;ENST00000366742;ENST00000366744;ENST00000348259;ENST00000366747;ENST00000366746;ENST00000295008;ENST00000336520;ENST00000336300;ENST00000430433;ENST00000391867;ENST00000366731;ENST00000411464;ENST00000457264	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.19	-2.42	0.06542	.	2.028360	0.02502	N	0.090623	T	0.18383	0.0441	N	0.22421	0.69	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.09377	0.004;0.003	T	0.09975	-1.0650	10	0.19590	T	0.45	0.2048	4.5521	0.12117	0.3956:0.3276:0.2768:0.0	.	51;15	Q7Z7F7-2;Q7Z7F7	.;RM55_HUMAN	I	12;15;15;15;15;51;15;15;15;15;15;15;15;15;15;15;15;51;15;51;15;15	ENSP00000355693:T12I;ENSP00000355694:T15I;ENSP00000355695:T15I;ENSP00000355696:T15I;ENSP00000355697:T15I;ENSP00000355699:T51I;ENSP00000355702:T15I;ENSP00000355701:T15I;ENSP00000355700:T15I;ENSP00000355703:T15I;ENSP00000355705:T15I;ENSP00000338189:T15I;ENSP00000355708:T15I;ENSP00000355707:T15I;ENSP00000295008:T15I;ENSP00000337342:T15I;ENSP00000337361:T15I;ENSP00000403614:T51I;ENSP00000375740:T15I;ENSP00000355692:T51I;ENSP00000401737:T15I;ENSP00000409966:T15I	ENSP00000295008:T15I	T	-	2	0	MRPL55	226362176	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.000000	0.12993	-0.696000	0.05098	0.650000	0.86243	ACC		0.617	MRPL55-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092808.1	XM_059233		9	26	0	0	0	0.307466	0	9	26				
HECTD4	283450	broad.mit.edu	37	12	112602002	112602002	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:112602002G>A	ENST00000430131.2	-	72	12491	c.11346C>T	c.(11344-11346)agC>agT	p.S3782S	HECTD4_ENST00000377560.5_Silent_p.S4032S|HECTD4_ENST00000550722.1_Silent_p.S4058S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3782	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCTTGTTGGGGCTGTCAGGGC	0.652																																						ENST00000550722.1																			0											c.(12172-12174)agC>agT		HECT domain containing E3 ubiquitin protein ligase 4							49.0	59.0	56.0					12																	112602002		2137	4227	6364	SO:0001819	synonymous_variant	283450							g.chr12:112602002G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.11346C>T	12.37:g.112602002G>A						HECTD4_ENST00000430131.2_Silent_p.S3782S|HECTD4_ENST00000377560.5_Silent_p.S4032S	p.S4058S	NM_001109662.3	NP_001103132.3					73	12569	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	ENST00000430131.2	37	c.12174C>T																																																																																					0.652	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		16	33	0	0	0	0.500413	0	16	33				
GCNT2	2651	broad.mit.edu	37	6	10556695	10556695	+	Intron	SNP	C	C	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:10556695C>G	ENST00000379597.3	+	1	1481				GCNT2_ENST00000316170.3_Silent_p.V13V|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TAATTTCTGTCTCTAGTGTAA	0.393																																						ENST00000316170.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(37-39)gtC>gtG		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							116.0	111.0	113.0					6																	10556695		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10556695C>G	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.925+26626C>G	6.37:g.10556695C>G						GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000379597.3_Intron	p.V13V	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	456	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	14						Silent	SNP	ENST00000379597.3	37	c.39C>G	CCDS34338.1																																																																																				0.393	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		17	48	0	0	0	0.500413	0	17	48				
EXT1	2131	broad.mit.edu	37	8	119123160	119123160	+	Silent	SNP	A	A	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:119123160A>T	ENST00000378204.2	-	1	932	c.126T>A	c.(124-126)ggT>ggA	p.G42G		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	42					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCCATTCCTACCGCTGTGTT	0.562			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38						c.(124-126)ggT>ggA		exostosin glycosyltransferase 1							47.0	50.0	49.0					8																	119123160		2203	4300	6503	SO:0001819	synonymous_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:119123160A>T	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.126T>A	8.37:g.119123160A>T							p.G42G	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		1	932	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		42					B2R7V2|Q9BVI9	Silent	SNP	ENST00000378204.2	37	c.126T>A	CCDS6324.1																																																																																				0.562	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		7	30	0	0	0	0.248553	0	7	30				
CGNL1	84952	broad.mit.edu	37	15	57731561	57731561	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:57731561C>T	ENST00000281282.5	+	2	1442	c.1364C>T	c.(1363-1365)tCa>tTa	p.S455L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	455	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CACGGGGCTTCATGTGCCCAC	0.622																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(1363-1365)tCa>tTa		cingulin-like 1							34.0	35.0	34.0					15																	57731561		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731561C>T	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1364C>T	15.37:g.57731561C>T	ENSP00000281282:p.Ser455Leu						p.S455L	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1442	+			455			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1364C>T	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	C	9.144	1.014512	0.19277	.	.	ENSG00000128849	ENST00000281282	T	0.05513	3.43	4.94	-1.78	0.07957	.	.	.	.	.	T	0.03053	0.0090	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46091	-0.9216	9	0.27082	T	0.32	-0.007	8.2395	0.31652	0.4067:0.3989:0.0:0.1944	.	455	Q0VF96	CGNL1_HUMAN	L	455	ENSP00000281282:S455L	ENSP00000281282:S455L	S	+	2	0	CGNL1	55518853	0.007000	0.16637	0.003000	0.11579	0.003000	0.03518	-0.549000	0.06041	0.036000	0.15547	-0.582000	0.04134	TCA		0.622	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		13	23	0	0	0	0.411799	0	13	23				
OR2T33	391195	broad.mit.edu	37	1	248436971	248436971	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:248436971C>A	ENST00000318021.2	-	1	167	c.146G>T	c.(145-147)tGg>tTg	p.W49L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			CCGGTGGTCCCAGTGAATCAG	0.522																																						ENST00000318021.2																			0				NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67						c.(145-147)tGg>tTg		olfactory receptor, family 2, subfamily T, member 33							46.0	47.0	47.0					1																	248436971		2198	4289	6487	SO:0001583	missense	391195				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248436971C>A		CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.146G>T	1.37:g.248436971C>A	ENSP00000324687:p.Trp49Leu						p.W49L	NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	167	-	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		49					B2RNN0	Missense_Mutation	SNP	ENST00000318021.2	37	c.146G>T	CCDS31109.1	.	.	.	.	.	.	.	.	.	.	-	0.001	-3.197277	0.00025	.	.	ENSG00000177212	ENST00000318021	T	0.02863	4.13	2.7	-5.39	0.02664	GPCR, rhodopsin-like superfamily (1);	3.014640	0.01683	N	0.026254	T	0.00524	0.0017	N	0.00029	-2.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46219	-0.9207	10	0.02654	T	1	.	4.2048	0.10483	0.3746:0.3732:0.0:0.2522	.	49	Q8NG76	O2T33_HUMAN	L	49	ENSP00000324687:W49L	ENSP00000324687:W49L	W	-	2	0	OR2T33	246503594	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	-2.237000	0.01200	-1.767000	0.01300	-0.463000	0.05309	TGG		0.522	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097354.1	NM_001004695		18	49	1	0	1.30998e-17	0.812448	1.43613e-17	18	49				
SNURF	8926	broad.mit.edu	37	15	25230200	25230200	+	Intron	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:25230200C>T	ENST00000551312.2	+	6	1184				SNHG14_ENST00000459433.1_RNA|SNORD108_ENST00000459332.1_RNA|SNHG14_ENST00000551631.2_RNA|SNHG14_ENST00000551361.1_RNA|SNORD64_ENST00000386683.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TATTTTTTTACGTATTTTTAC	0.378																																						ENST00000551631.2																			0																				71.0	70.0	70.0					15																	25230200		876	1991	2867	SO:0001627	intron_variant	104472715							g.chr15:25230200C>T		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+2616C>T	15.37:g.25230200C>T						SNHG14_ENST00000551361.1_RNA		NR_001293.1						0	887	+								A6NCW2	RNA	SNP	ENST00000551312.2	37		CCDS10016.1																																																																																				0.378	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	NM_005678		13	20	0	0	0	0.411799	0	13	20				
RGL4	266747	broad.mit.edu	37	22	24035110	24035110	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr22:24035110G>A	ENST00000290691.5	+	3	1798	c.628G>A	c.(628-630)Gag>Aag	p.E210K	KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E74K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	210	Pro-rich.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCAACCCAGTGAGGAGCTGCC	0.622																																						ENST00000290691.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						c.(628-630)Gag>Aag		ral guanine nucleotide dissociation stimulator-like 4							74.0	63.0	67.0					22																	24035110		2203	4300	6503	SO:0001583	missense	266747				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	g.chr22:24035110G>A		CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.628G>A	22.37:g.24035110G>A	ENSP00000290691:p.Glu210Lys					GUSBP11_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Missense_Mutation_p.E74K	p.E210K	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN			3	1798	+			210			Pro-rich.		Q495L8	Missense_Mutation	SNP	ENST00000290691.5	37	c.628G>A	CCDS13811.1	.	.	.	.	.	.	.	.	.	.	g	16.13	3.035875	0.54896	.	.	ENSG00000159496	ENST00000401461;ENST00000290691;ENST00000382833;ENST00000423392	T;T;T	0.29397	1.57;1.57;1.57	1.63	0.583	0.17417	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.409722	0.20253	N	0.096026	T	0.27967	0.0689	L	0.36672	1.1	0.22240	N	0.999269	D;P;P;P	0.54964	0.969;0.848;0.947;0.917	P;P;P;P	0.51016	0.656;0.521;0.585;0.606	T	0.09335	-1.0679	10	0.62326	D	0.03	.	5.7402	0.18089	0.1948:0.0:0.8052:0.0	.	74;74;210;210	E7EW79;Q495L8;E9PH87;Q8IZJ4	.;.;.;RGDSR_HUMAN	K	74;210;210;210	ENSP00000383951:E74K;ENSP00000290691:E210K;ENSP00000402142:E210K	ENSP00000290691:E210K	E	+	1	0	RGL4	22365110	0.994000	0.37717	0.014000	0.15608	0.032000	0.12392	3.362000	0.52314	0.243000	0.21327	0.543000	0.68304	GAG		0.622	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319711.1	NM_153615		8	31	0	0	0	0.278610	0	8	31				
MUC2	4583	broad.mit.edu	37	11	1093601	1093601	+	Missense_Mutation	SNP	G	G	A	rs375716724		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:1093601G>A	ENST00000441003.2	+	30	5447	c.5420G>A	c.(5419-5421)gGc>gAc	p.G1807D	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.G1763D|MUC2_ENST00000333592.6_Missense_Mutation_p.G95D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACCCACCGGCACACAGACC	0.607																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(5419-5421)gGc>gAc		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						106.0	143.0	131.0					11																	1093601		2192	4275	6467	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1093601G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5420G>A	11.37:g.1093601G>A	ENSP00000415183:p.Gly1807Asp					MUC2_ENST00000359061.5_Missense_Mutation_p.1763_1763insD|MUC2_ENST00000333592.6_Missense_Mutation_p.G95D|MUC2_ENST00000361558.6_Intron	p.G1807D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	30	5447	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1803					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.5420G>A		.	.	.	.	.	.	.	.	.	.	G	3.899	-0.022397	0.07634	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.17854	3.12;3.21;2.25	1.71	-0.639	0.11497	.	0.254805	0.16288	U	0.221059	T	0.05090	0.0136	.	.	.	0.21604	N	0.999625	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	9	0.05833	T	0.94	.	4.1697	0.10324	0.0:0.5826:0.2458:0.1716	.	1807	E7EUV1	.	D	1807;1763;95	ENSP00000415183:G1807D;ENSP00000351956:G1763D;ENSP00000331373:G95D	ENSP00000331373:G95D	G	+	2	0	MUC2	1083601	0.000000	0.05858	0.002000	0.10522	0.044000	0.14063	-1.268000	0.02836	-0.397000	0.07691	0.195000	0.17529	GGC		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		3	23	0	0	0	0.115264	0	3	23				
ESPNL	339768	broad.mit.edu	37	2	239040266	239040266	+	Missense_Mutation	SNP	C	C	G	rs578197417		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:239040266C>G	ENST00000343063.3	+	9	3174	c.2911C>G	c.(2911-2913)Cgc>Ggc	p.R971G	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.R603G|ESPNL_ENST00000409169.1_Missense_Mutation_p.R927G	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	971										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGGGTCCCGCTCCCAGCA	0.652																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.(2911-2913)Cgc>Ggc		espin-like							27.0	29.0	28.0					2																	239040266		2201	4300	6501	SO:0001583	missense	339768							g.chr2:239040266C>G	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2911C>G	2.37:g.239040266C>G	ENSP00000339115:p.Arg971Gly					ESPNL_ENST00000409506.1_Missense_Mutation_p.R603G|ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409169.1_Missense_Mutation_p.R927G	p.R971G	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	3174	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	971					Q66K27|Q6ZVG1|Q8IVU2	Missense_Mutation	SNP	ENST00000343063.3	37	c.2911C>G	CCDS2525.1	.	.	.	.	.	.	.	.	.	.	C	0.047	-1.263489	0.01445	.	.	ENSG00000144488	ENST00000343063;ENST00000409169;ENST00000409506	T;T;T	0.61859	0.07;1.17;0.75	4.39	-0.562	0.11781	.	1.134570	0.06704	N	0.771891	T	0.18718	0.0449	N	0.00538	-1.39	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.14559	-1.0468	10	0.18710	T	0.47	-7.9795	0.7138	0.00929	0.2178:0.1452:0.3834:0.2535	.	927;971	Q6ZVH7-2;Q6ZVH7	.;ESPNL_HUMAN	G	971;927;603	ENSP00000339115:R971G;ENSP00000386577:R927G;ENSP00000386579:R603G	ENSP00000339115:R971G	R	+	1	0	ESPNL	238705005	0.000000	0.05858	0.000000	0.03702	0.050000	0.14768	-0.120000	0.10660	0.078000	0.16900	-0.515000	0.04445	CGC		0.652	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312		19	10	0	0	0	0.575678	0	19	10				
MTUS2	23281	broad.mit.edu	37	13	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	rs377003171		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:29855999G>A	ENST00000431530.3	+	4	2891	c.2833G>A	c.(2833-2835)Gct>Act	p.A945T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	935	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCACACCCGCTGGTAAGAC	0.542																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2833-2835)Gct>Act		microtubule associated tumor suppressor candidate 2							55.0	55.0	55.0					13																	29855999		1858	4100	5958	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29855999G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2833G>A	13.37:g.29855999G>A	ENSP00000392057:p.Ala945Thr						p.A945T	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			4	2891	+			935			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2833G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269877	0.40095	.	.	ENSG00000132938	ENST00000431530	T	0.13307	2.6	4.87	3.14	0.36123	.	0.000000	0.64402	D	0.000009	T	0.12305	0.0299	L	0.53249	1.67	0.80722	D	1	B	0.33826	0.427	B	0.29440	0.102	T	0.08432	-1.0722	9	.	.	.	.	10.3681	0.44038	0.1585:0.0:0.8415:0.0	.	935	Q5JR59	MTUS2_HUMAN	T	945	ENSP00000392057:A945T	.	A	+	1	0	MTUS2	28753999	0.930000	0.31532	0.588000	0.28705	0.308000	0.27856	1.323000	0.33701	0.775000	0.33450	0.655000	0.94253	GCT		0.542	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		16	43	0	0	0	0.539581	0	16	43				
GYPB	2994	broad.mit.edu	37	4	145035857	145035857	+	Intron	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr4:145035857C>T	ENST00000283126.7	-	1	93				GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000360771.4_Missense_Mutation_p.E141K|GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPA_ENST00000535709.1_Missense_Mutation_p.E115K|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTTTCTATTTCAACAGAACTT	0.353																																						ENST00000360771.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(421-423)Gaa>Aaa		glycophorin A (MNS blood group)							77.0	80.0	79.0					4																	145035857		2203	4300	6503	SO:0001627	intron_variant	2993				interspecies interaction between organisms	membrane fraction	receptor activity	g.chr4:145035857C>T		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+25894G>A	4.37:g.145035857C>T						GYPA_ENST00000535709.1_Missense_Mutation_p.E115K|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000324022.10_Missense_Mutation_p.E108K|GYPA_ENST00000503627.1_Missense_Mutation_p.E96K|GYPA_ENST00000512789.1_Missense_Mutation_p.E76K|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512064.1_Missense_Mutation_p.E128K|GYPA_ENST00000504786.1_Missense_Mutation_p.E109K	p.E141K	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN			6	536	-	all_hematologic(180;0.15)		141					B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	37	c.421G>A		.	.	.	.	.	.	.	.	.	.	C	19.78	3.891659	0.72524	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512064;ENST00000512789;ENST00000504786;ENST00000503627	T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43	4.72	0.776	0.18532	.	0.000000	0.39544	N	0.001336	T	0.43166	0.1235	M	0.76328	2.33	0.09310	N	1	P;P;P;P;P	0.52316	0.952;0.952;0.952;0.952;0.952	P;P;P;P;P	0.60286	0.833;0.664;0.872;0.872;0.872	T	0.29119	-1.0022	10	0.87932	D	0	-19.0554	3.5068	0.07693	0.163:0.4296:0.3165:0.0909	.	108;76;128;109;141	B8Q185;Q13030;E9PD10;E7EQF3;P02724	.;.;.;.;GLPA_HUMAN	K	141;108;115;128;76;109;96	ENSP00000354003:E141K;ENSP00000324483:E108K;ENSP00000445398:E115K;ENSP00000426130:E128K;ENSP00000425193:E76K;ENSP00000425549:E109K;ENSP00000421243:E96K	ENSP00000324483:E108K	E	-	1	0	GYPA	145255307	0.004000	0.15560	0.009000	0.14445	0.735000	0.41995	0.053000	0.14184	0.001000	0.14605	0.585000	0.79938	GAA		0.353	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100		11	26	0	0	0	0.387290	0	11	26				
PMPCA	23203	broad.mit.edu	37	9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr9:139311437G>A	ENST00000371717.3	+	7	677	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_ENST00000399219.3_Missense_Mutation_p.R92H|PMPCA_ENST00000462616.1_3'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	223					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(667-669)cGt>cAt		peptidase (mitochondrial processing) alpha							68.0	48.0	55.0					9																	139311437		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139311437G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.668G>A	9.37:g.139311437G>A	ENSP00000360782:p.Arg223His					PMPCA_ENST00000462616.1_3'UTR|PMPCA_ENST00000399219.3_Missense_Mutation_p.R92H	p.R223H	NM_015160.1	NP_055975.1	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	7	677	+		Myeloproliferative disorder(178;0.0821)	223					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.668G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333421	0.95758	.	.	ENSG00000165688	ENST00000371717;ENST00000399219	T;T	0.17213	2.29;2.29	5.81	5.81	0.92471	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.31009	0.0783	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.71414	0.915;0.973;0.973	T	0.01363	-1.1374	10	0.46703	T	0.11	.	19.0511	0.93046	0.0:0.0:1.0:0.0	.	92;223;223	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	H	223;92	ENSP00000360782:R223H;ENSP00000416702:R92H	ENSP00000360782:R223H	R	+	2	0	PMPCA	138431258	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	9.520000	0.98027	2.740000	0.93945	0.609000	0.83330	CGT		0.562	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		7	32	0	0	0	0.278610	0	7	32				
ARID5B	84159	broad.mit.edu	37	10	63759861	63759861	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr10:63759861G>A	ENST00000279873.7	+	4	924	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	172					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGAGGACGAGGAAGAAACGAA	0.473																																						ENST00000279873.7																			0				NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(514-516)Gaa>Aaa		AT rich interactive domain 5B (MRF1-like)							80.0	72.0	75.0					10																	63759861		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63759861G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.514G>A	10.37:g.63759861G>A	ENSP00000279873:p.Glu172Lys						p.E172K	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN			4	924	+	Prostate(12;0.016)|all_hematologic(501;0.215)		172					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.514G>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534964	0.85812	.	.	ENSG00000150347	ENST00000279873	T	0.44881	0.91	5.75	5.75	0.90469	.	0.055799	0.64402	D	0.000001	T	0.44222	0.1283	L	0.40543	1.245	0.80722	D	1	P;P	0.44734	0.827;0.842	B;B	0.44133	0.442;0.321	T	0.37454	-0.9705	10	0.59425	D	0.04	-19.8253	19.942	0.97168	0.0:0.0:1.0:0.0	.	172;172	Q14865-3;Q14865	.;ARI5B_HUMAN	K	172	ENSP00000279873:E172K	ENSP00000279873:E172K	E	+	1	0	ARID5B	63429867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.714000	0.92807	0.561000	0.74099	GAA		0.473	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482		8	22	0	0	0	0.278610	0	8	22				
SLITRK1	114798	broad.mit.edu	37	13	84453669	84453669	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr13:84453669C>T	ENST00000377084.2	-	1	2859	c.1974G>A	c.(1972-1974)gcG>gcA	p.A658A		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	658					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAATCTCGGACGCGGAGGAGT	0.552																																						ENST00000377084.2																			0				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1972-1974)gcG>gcA		SLIT and NTRK-like family, member 1							77.0	68.0	71.0					13																	84453669		2203	4300	6503	SO:0001819	synonymous_variant	114798					integral to membrane		g.chr13:84453669C>T	AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1974G>A	13.37:g.84453669C>T							p.A658A	NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN		GBM - Glioblastoma multiforme(99;0.07)	1	2859	-	Medulloblastoma(90;0.18)	Breast(118;0.212)	658					Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	c.1974G>A	CCDS9464.1																																																																																				0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910		9	20	0	0	0	0.335167	0	9	20				
BAIAP2	10458	broad.mit.edu	37	17	79073793	79073793	+	Silent	SNP	C	C	T	rs146015006	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:79073793C>T	ENST00000321300.6	+	7	648	c.555C>T	c.(553-555)acC>acT	p.T185T	BAIAP2_ENST00000392411.3_Silent_p.T107T|BAIAP2_ENST00000575245.1_Silent_p.T218T|BAIAP2_ENST00000321280.7_Silent_p.T185T|BAIAP2_ENST00000435091.3_Silent_p.T185T|BAIAP2_ENST00000428708.2_Silent_p.T185T|BAIAP2_ENST00000416299.2_Silent_p.T48T|BAIAP2_ENST00000575712.1_Silent_p.T185T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	185	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of synaptic plasticity (GO:0048167)|response to bacterium (GO:0009617)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	cytoskeletal adaptor activity (GO:0008093)|identical protein binding (GO:0042802)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GCTACAAGACCGCACTGACAG	0.617													C|||	48	0.00958466	0.0	0.0029	5008	,	,		16432	0.0		0.0	False		,,,				2504	0.047					ENST00000321300.6																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18						c.(553-555)acC>acT		BAI1-associated protein 2		C	,,,	3,4403	6.2+/-15.9	0,3,2200	95.0	88.0	90.0		555,555,555,555	-10.5	0.1	17	dbSNP_134	90	38,8562	25.7+/-73.6	0,38,4262	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BAIAP2	NM_001144888.1,NM_006340.2,NM_017450.2,NM_017451.2	,,,	0,41,6462	TT,TC,CC		0.4419,0.0681,0.3152	,,,	185/535,185/521,185/522,185/553	79073793	41,12965	2203	4300	6503	SO:0001819	synonymous_variant	10458				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	g.chr17:79073793C>T	AB015019	CCDS11775.1, CCDS11776.1, CCDS11777.1, CCDS45806.1	17q25.3	2014-09-11			ENSG00000175866				947	protein-coding gene	gene with protein product		605475				10343108	Standard	NM_017451		Approved	BAP2	uc002jzg.2	Q9UQB8	OTTHUMG00000177698	ENST00000321300.6:c.555C>T	17.37:g.79073793C>T						BAIAP2_ENST00000575712.1_Silent_p.T185T|BAIAP2_ENST00000416299.2_Silent_p.T48T|BAIAP2_ENST00000392411.3_Silent_p.T107T|BAIAP2_ENST00000321280.7_Silent_p.T185T|BAIAP2_ENST00000575245.1_Silent_p.T218T|BAIAP2_ENST00000428708.2_Silent_p.T185T|BAIAP2_ENST00000435091.3_Silent_p.T185T	p.T185T	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		7	648	+	all_neural(118;0.101)		185			IMD.		O43858|Q53HB1|Q86WC1|Q8N5C0|Q96CR7|Q9UBR3|Q9UQ43	Silent	SNP	ENST00000321300.6	37	c.555C>T	CCDS11775.1																																																																																				0.617	BAIAP2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000438553.1			3	39	0	0	0	0.115264	0	3	39				
FAM47C	442444	broad.mit.edu	37	X	37026576	37026576	+	Silent	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:37026576G>A	ENST00000358047.3	+	1	145	c.93G>A	c.(91-93)gcG>gcA	p.A31A		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	31										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTACTTCGCGAAGCGCAAGC	0.642																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(91-93)gcG>gcA		family with sequence similarity 47, member C							27.0	26.0	26.0					X																	37026576		2202	4297	6499	SO:0001819	synonymous_variant	442444							g.chrX:37026576G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.93G>A	X.37:g.37026576G>A							p.A31A	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	145	+			31					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.93G>A	CCDS35227.1																																																																																				0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		12	10	0	0	0	0.411799	0	12	10				
OR51I1	390063	broad.mit.edu	37	11	5462199	5462199	+	Silent	SNP	G	G	C			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:5462199G>C	ENST00000380211.1	-	1	545	c.546C>G	c.(544-546)ctC>ctG	p.L182L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	182					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GATCTGGATGGAGACAGTAGG	0.433																																						ENST00000380211.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(544-546)ctC>ctG		olfactory receptor, family 51, subfamily I, member 1							86.0	81.0	83.0					11																	5462199		2201	4297	6498	SO:0001819	synonymous_variant	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5462199G>C	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.546C>G	11.37:g.5462199G>C						HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	p.L182L	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	545	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	182					B9EKW2|Q6IF33	Silent	SNP	ENST00000380211.1	37	c.546C>G	CCDS31382.1																																																																																				0.433	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		14	22	0	0	0	0.520397	0	14	22				
CHST1	8534	broad.mit.edu	37	11	45671567	45671567	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:45671567C>T	ENST00000308064.2	-	4	1577	c.907G>A	c.(907-909)Gag>Aag	p.E303K	RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'Flank	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	303					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCCAGGTCCTCGTAGCGCACC	0.627																																						ENST00000308064.2																			0				breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42						c.(907-909)Gag>Aag		carbohydrate (keratan sulfate Gal-6) sulfotransferase 1							78.0	72.0	74.0					11																	45671567		2203	4299	6502	SO:0001583	missense	8534				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	g.chr11:45671567C>T	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.907G>A	11.37:g.45671567C>T	ENSP00000309270:p.Glu303Lys						p.E303K	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN		GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)	4	1577	-			303					D3DQP2	Missense_Mutation	SNP	ENST00000308064.2	37	c.907G>A	CCDS7913.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277176	0.80580	.	.	ENSG00000175264	ENST00000308064	D	0.90261	-2.64	4.89	3.98	0.46160	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96571	0.9423	10	0.72032	D	0.01	-12.8172	13.103	0.59231	0.0:0.9219:0.0:0.0781	.	303	O43916	CHST1_HUMAN	K	303	ENSP00000309270:E303K	ENSP00000309270:E303K	E	-	1	0	CHST1	45628143	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.814000	0.86154	1.052000	0.40392	0.462000	0.41574	GAG		0.627	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654		35	23	0	0	0	0.769981	0	35	23				
IWS1	55677	broad.mit.edu	37	2	128262665	128262665	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:128262665G>A	ENST00000295321.4	-	3	1073	c.814C>T	c.(814-816)Cga>Tga	p.R272*	IWS1_ENST00000486662.1_5'Flank|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Nonsense_Mutation_p.R279*	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	272	3 X approximate tandem repeats.|Glu-rich.				mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of histone H3-K36 trimethylation (GO:2001253)|regulation of histone H4 acetylation (GO:0090239)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TCACTGATTCGGGGTTTGGGA	0.522																																						ENST00000295321.4																			0				cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28						c.(814-816)Cga>Tga		IWS1 homolog (S. cerevisiae)							140.0	152.0	148.0					2																	128262665		2203	4300	6503	SO:0001587	stop_gained	55677				transcription, DNA-dependent	nucleus	DNA binding	g.chr2:128262665G>A	AK000868	CCDS2146.1	2q14.3	2006-03-17			ENSG00000163166	ENSG00000163166			25467	protein-coding gene	gene with protein product							Standard	NM_017969		Approved	DKFZp761G0123, FLJ10006, FLJ14655, FLJ32319	uc002ton.2	Q96ST2	OTTHUMG00000131527	ENST00000295321.4:c.814C>T	2.37:g.128262665G>A	ENSP00000295321:p.Arg272*					AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Nonsense_Mutation_p.R279*	p.R272*	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0735)	3	1073	-	Colorectal(110;0.1)		272			3 X approximate tandem repeats.|Glu-rich.		Q2TB65|Q6P157|Q8N3E8|Q96MI7|Q9NV97|Q9NWH8	Nonsense_Mutation	SNP	ENST00000295321.4	37	c.814C>T	CCDS2146.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820573	0.90873	.	.	ENSG00000163166	ENST00000295321;ENST00000433551;ENST00000455721;ENST00000409725	.	.	.	5.72	4.84	0.62591	.	0.980940	0.08296	N	0.967720	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.2828	10.9812	0.47494	0.0:0.1402:0.7141:0.1457	.	.	.	.	X	272;225;279;277	.	ENSP00000295321:R272X	R	-	1	2	IWS1	127979135	0.000000	0.05858	0.732000	0.30844	0.460000	0.32559	0.551000	0.23361	1.415000	0.47037	-0.310000	0.09108	CGA		0.522	IWS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254384.2	NM_017969		75	153	0	0	0	0.870114	0	75	153				
TTN	7273	broad.mit.edu	37	2	179482531	179482531	+	Silent	SNP	G	G	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179482531G>T	ENST00000591111.1	-	203	42848	c.42624C>A	c.(42622-42624)ccC>ccA	p.P14208P	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Silent_p.P15849P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.P6976P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.P6909P|TTN_ENST00000460472.2_Silent_p.P6784P|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Silent_p.P13281P|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14208	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		P -> T. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGACGAAGGGTGTGGCTG	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(47545-47547)ccC>ccA		titin							131.0	124.0	126.0					2																	179482531		1929	4133	6062	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179482531G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42624C>A	2.37:g.179482531G>T						TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.P6909P|TTN_ENST00000342175.6_Silent_p.P6976P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P14208P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P13281P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.P6784P	p.P15849P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		253	47771	-			14208			Fibronectin type-III 15.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.47547C>A																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	58	1	0	0.000602214	0.184627	0.000610464	4	58				
TTN	7273	broad.mit.edu	37	2	179529198	179529198	+	Intron	SNP	A	A	G			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179529198A>G	ENST00000591111.1	-	154	34489				TTN_ENST00000589042.1_Missense_Mutation_p.V12090A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGACAGGTACAACTTCAGC	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(36268-36270)gTa>gCa		titin							153.0	146.0	148.0					2																	179529198		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179529198A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-5677T>C	2.37:g.179529198A>G						TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.V12090A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		168	36493	-			10239			Ig-like 80.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.36269T>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.458|6.458	0.452671|0.452671	0.12283|0.12283	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000541862;ENST00000392423|ENST00000425332	.|.	.|.	.|.	4.94|4.94	2.44|2.44	0.29823|0.29823	.|.	.|.	.|.	.|.	.|.	T|T	0.24084|0.24084	0.0583|0.0583	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|.	0.43094|.	0.799|.	B|.	0.35931|.	0.214|.	T|T	0.14117|0.14117	-1.0484|-1.0484	7|4	0.08381|.	T|.	0.77|.	.|.	3.7339|3.7339	0.08503|0.08503	0.6563:0.1356:0.0771:0.131|0.6563:0.1356:0.0771:0.131	.|.	364|.	Q71S18|.	.|.	A|H	364;216|154	.|.	ENSP00000376219:V216A|.	V|Y	-|-	2|1	0|0	TTN|TTN	179237443|179237443	0.825000|0.825000	0.29262|0.29262	0.125000|0.125000	0.21846|0.21846	0.006000|0.006000	0.05464|0.05464	0.862000|0.862000	0.27899|0.27899	1.976000|1.976000	0.57569|0.57569	0.528000|0.528000	0.53228|0.53228	GTA|TAC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	72	0	0	0	0.840704	0	33	72				
TMEM132C	92293	broad.mit.edu	37	12	128899814	128899814	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr12:128899814C>T	ENST00000435159.2	+	2	623	c.623C>T	c.(622-624)cCg>cTg	p.P208L		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	208						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TTCAGTGCCCCGACGGTGGGT	0.657																																						ENST00000435159.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						c.(622-624)cCg>cTg		transmembrane protein 132C							19.0	24.0	23.0					12																	128899814		692	1591	2283	SO:0001583	missense	92293					integral to membrane		g.chr12:128899814C>T	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.623C>T	12.37:g.128899814C>T	ENSP00000410852:p.Pro208Leu						p.P208L	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN			2	623	+			208					Q69YX8	Missense_Mutation	SNP	ENST00000435159.2	37	c.623C>T		.	.	.	.	.	.	.	.	.	.	C	8.624	0.892010	0.17613	.	.	ENSG00000181234	ENST00000435159	T	0.12672	2.66	5.09	3.28	0.37604	.	.	.	.	.	T	0.16171	0.0389	M	0.75615	2.305	0.58432	D	0.999997	B	0.20164	0.042	B	0.16289	0.015	T	0.04481	-1.0948	9	0.15952	T	0.53	.	11.7632	0.51916	0.0:0.8561:0.0:0.1439	.	208	Q8N3T6	T132C_HUMAN	L	208	ENSP00000410852:P208L	ENSP00000410852:P208L	P	+	2	0	TMEM132C	127465767	0.307000	0.24500	0.088000	0.20740	0.001000	0.01503	2.230000	0.42999	0.660000	0.30964	-0.137000	0.14449	CCG		0.657	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_044062		6	7	0	0	0	0.217242	0	6	7				
ODF3L2	284451	broad.mit.edu	37	19	463990	463990	+	Missense_Mutation	SNP	C	C	T	rs371698557		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:463990C>T	ENST00000315489.4	-	4	959	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	SHC2_ENST00000264554.6_5'Flank|ODF3L2_ENST00000382696.3_Missense_Mutation_p.A206T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	242	Pro-rich.					cytoplasmic microtubule (GO:0005881)				large_intestine(1)|lung(2)	3						GGGCAGTGGGCGCCAGGGCCG	0.711																																						ENST00000315489.4																			0				large_intestine(1)|lung(2)	3						c.(724-726)Gcc>Acc		outer dense fiber of sperm tails 3-like 2							16.0	20.0	19.0					19																	463990		2191	4284	6475	SO:0001583	missense	284451							g.chr19:463990C>T	AK097378	CCDS12027.1	19p13.3	2010-04-23	2008-07-04	2008-07-04		ENSG00000181781			26841	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 19"""	C19orf19		14702039	Standard	NM_182577		Approved	FLJ40059	uc002lor.3	Q3SX64		ENST00000315489.4:c.724G>A	19.37:g.463990C>T	ENSP00000318029:p.Ala242Thr					ODF3L2_ENST00000382696.3_Missense_Mutation_p.A206T	p.A242T	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN			4	959	-			242			Pro-rich.		Q3SX65|Q8N1L2	Missense_Mutation	SNP	ENST00000315489.4	37	c.724G>A	CCDS12027.1	.	.	.	.	.	.	.	.	.	.	C	4.392	0.072336	0.08436	.	.	ENSG00000181781	ENST00000315489;ENST00000382696	T;T	0.33216	1.42;1.42	3.81	0.902	0.19290	.	0.456339	0.24041	N	0.042093	T	0.16085	0.0387	L	0.33093	0.98	0.20873	N	0.999833	B;B	0.24882	0.001;0.113	B;B	0.18263	0.002;0.021	T	0.10154	-1.0642	10	0.27082	T	0.32	-18.1128	2.3151	0.04197	0.2282:0.3293:0.0:0.4425	.	206;242	Q3SX64-2;Q3SX64	.;OD3L2_HUMAN	T	242;206	ENSP00000318029:A242T;ENSP00000372143:A206T	ENSP00000318029:A242T	A	-	1	0	ODF3L2	414990	0.066000	0.20996	0.934000	0.37439	0.033000	0.12548	0.253000	0.18296	0.453000	0.26858	-0.477000	0.04895	GCC		0.711	ODF3L2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451849.2	NM_182577		4	13	0	0	0	0.150653	0	4	13				
HUWE1	10075	broad.mit.edu	37	X	53563194	53563194	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:53563194C>T	ENST00000342160.3	-	79	12902	c.12445G>A	c.(12445-12447)Gaa>Aaa	p.E4149K	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4149K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4149	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGTAATCTTCACTCTCCATA	0.448																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(12445-12447)Gaa>Aaa		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							143.0	102.0	116.0					X																	53563194		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53563194C>T	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12445G>A	X.37:g.53563194C>T	ENSP00000340648:p.Glu4149Lys					HUWE1_ENST00000262854.6_Missense_Mutation_p.E4149K	p.E4149K			Q7Z6Z7	HUWE1_HUMAN			79	12902	-			4149			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.12445G>A	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.531718	0.64972	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.57107	0.42;0.42	5.57	5.57	0.84162	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	M	0.83953	2.67	0.80722	D	1	D;D	0.69078	0.987;0.997	D;D	0.78314	0.988;0.991	T	0.78558	-0.2158	10	0.62326	D	0.03	.	17.4833	0.87680	0.0:1.0:0.0:0.0	.	4149;4133	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	K	4149	ENSP00000340648:E4149K;ENSP00000262854:E4149K	ENSP00000262854:E4149K	E	-	1	0	HUWE1	53579919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.231000	0.78106	2.485000	0.83878	0.594000	0.82650	GAA		0.448	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		11	22	0	0	0	0.361761	0	11	22				
OR6K2	81448	broad.mit.edu	37	1	158669812	158669812	+	Missense_Mutation	SNP	C	C	T	rs200416710		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:158669812C>T	ENST00000359610.2	-	1	674	c.631G>A	c.(631-633)Gct>Act	p.A211T		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGCATCACAGCTGTAATAATC	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		22333	0.001		0.0	False		,,,				2504	0.0					ENST00000359610.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46						c.(631-633)Gct>Act		olfactory receptor, family 6, subfamily K, member 2							166.0	133.0	144.0					1																	158669812		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669812C>T	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.631G>A	1.37:g.158669812C>T	ENSP00000352626:p.Ala211Thr						p.A211T	NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN			1	674	-	all_hematologic(112;0.0378)		211					B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.631G>A	CCDS30902.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.434	-0.902151	0.02453	.	.	ENSG00000196171	ENST00000359610	T	0.36699	1.24	4.94	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41396	D	0.000892	T	0.02342	0.0072	N	0.00991	-1.07	0.09310	N	1	B	0.19331	0.035	B	0.28305	0.088	T	0.45585	-0.9251	10	0.02654	T	1	-7.7792	3.2614	0.06850	0.3102:0.4542:0.1507:0.0849	.	211	Q8NGY2	OR6K2_HUMAN	T	211	ENSP00000352626:A211T	ENSP00000352626:A211T	A	-	1	0	OR6K2	156936436	0.000000	0.05858	0.066000	0.19879	0.894000	0.52154	-0.444000	0.06854	0.654000	0.30846	0.655000	0.94253	GCT		0.502	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		19	42	0	0	0	0.539581	0	19	42				
LYST	1130	broad.mit.edu	37	1	235973499	235973499	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr1:235973499G>A	ENST00000389794.3	-	5	793	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	LYST_ENST00000389793.2_Missense_Mutation_p.R207C|LYST_ENST00000536965.1_Missense_Mutation_p.R207C			Q99698	LYST_HUMAN	lysosomal trafficking regulator	207					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTTGCTAAGCGGTCAAGTTTA	0.413																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(619-621)Cgc>Tgc		lysosomal trafficking regulator							185.0	182.0	183.0					1																	235973499		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973499G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.619C>T	1.37:g.235973499G>A	ENSP00000374444:p.Arg207Cys					LYST_ENST00000536965.1_Missense_Mutation_p.R207C|LYST_ENST00000389793.2_Missense_Mutation_p.R207C	p.R207C			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	793	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	207					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.619C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	4.237	0.042826	0.08196	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.13778	2.56;2.56;2.56	5.02	3.15	0.36227	.	2.001940	0.01459	N	0.015799	T	0.08670	0.0215	N	0.08118	0	0.09310	N	1	P;B	0.42078	0.77;0.001	B;B	0.39152	0.292;0.001	T	0.14699	-1.0463	10	0.66056	D	0.02	.	3.9585	0.09401	0.3007:0.0:0.5333:0.166	.	207;207	Q99698-3;Q99698	.;LYST_HUMAN	C	207	ENSP00000374444:R207C;ENSP00000374443:R207C;ENSP00000438315:R207C	ENSP00000374443:R207C	R	-	1	0	LYST	234040122	0.000000	0.05858	0.013000	0.15412	0.608000	0.37181	0.495000	0.22483	0.793000	0.33875	0.655000	0.94253	CGC		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			5	135	0	0	0	0.248553	0	5	135				
KRT14	3861	broad.mit.edu	37	17	39739633	39739633	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:39739633C>T	ENST00000167586.6	-	6	1214	c.1128G>A	c.(1126-1128)atG>atA	p.M376I		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	376	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCTGCCAATCATCTCCTGGA	0.597																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(1126-1128)atG>atA		keratin 14							50.0	49.0	50.0					17																	39739633		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39739633C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1128G>A	17.37:g.39739633C>T	ENSP00000167586:p.Met376Ile						p.M376I	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			6	1214	-		Breast(137;0.000307)	376			Coil 2.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.1128G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	8.419	0.845959	0.16963	.	.	ENSG00000186847	ENST00000167586	D	0.87103	-2.21	5.4	2.13	0.27403	Filament (1);	0.675647	0.13583	N	0.377171	T	0.67795	0.2931	N	0.01505	-0.83	0.24242	N	0.995355	B	0.09022	0.002	B	0.17098	0.017	T	0.62272	-0.6889	10	0.87932	D	0	.	7.8799	0.29616	0.0:0.6152:0.2479:0.137	.	376	P02533	K1C14_HUMAN	I	376	ENSP00000167586:M376I	ENSP00000167586:M376I	M	-	3	0	KRT14	36993159	0.029000	0.19370	0.816000	0.32577	0.041000	0.13682	0.125000	0.15749	0.766000	0.33244	0.655000	0.94253	ATG		0.597	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		12	27	0	0	0	0.435327	0	12	27				
OR1M1	125963	broad.mit.edu	37	19	9204511	9204511	+	Silent	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:9204511C>T	ENST00000429566.3	+	1	657	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGAATAGGATCTTCATCCTCA	0.567																																						ENST00000429566.3																			0				breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(589-591)atC>atT		olfactory receptor, family 1, subfamily M, member 1							138.0	113.0	121.0					19																	9204511		2203	4300	6503	SO:0001819	synonymous_variant	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204511C>T		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.591C>T	19.37:g.9204511C>T							p.I197I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	657	+			197					B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	c.591C>T	CCDS32896.1																																																																																				0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			19	57	0	0	0	0.557998	0	19	57				
TTN	7273	broad.mit.edu	37	2	179549471	179549471	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:179549471C>T	ENST00000591111.1	-	129	31833	c.31609G>A	c.(31609-31611)Gaa>Aaa	p.E10537K	TTN_ENST00000589042.1_Missense_Mutation_p.E10854K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9610K|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGCTCTTCTGGCACTTAA	0.388																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(32560-32562)Gaa>Aaa		titin							99.0	86.0	90.0					2																	179549471		1822	4079	5901	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179549471C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31609G>A	2.37:g.179549471C>T	ENSP00000465570:p.Glu10537Lys					TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10537K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9610K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	p.E10854K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		131	32784	-			10537			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.32560G>A		.	.	.	.	.	.	.	.	.	.	C	16.15	3.042032	0.55003	.	.	ENSG00000155657	ENST00000342992	T	0.69175	-0.38	5.57	5.57	0.84162	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.65460	0.2693	M	0.78916	2.43	0.80722	D	1	P	0.40970	0.734	B	0.35114	0.196	T	0.72077	-0.4399	9	0.87932	D	0	.	12.4167	0.55498	0.0:0.9202:0.0:0.0798	.	10537	Q8WZ42	TITIN_HUMAN	K	9610	ENSP00000343764:E9610K	ENSP00000343764:E9610K	E	-	1	0	TTN	179257716	0.202000	0.23423	1.000000	0.80357	0.983000	0.72400	0.267000	0.18552	2.791000	0.96007	0.655000	0.94253	GAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	26	0	0	0	0.411799	0	12	26				
HBP1	26959	broad.mit.edu	37	7	106826299	106826299	+	Missense_Mutation	SNP	G	G	A	rs151293151		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:106826299G>A	ENST00000222574.4	+	4	638	c.452G>A	c.(451-453)cGc>cAc	p.R151H	HBP1_ENST00000468410.1_Missense_Mutation_p.R151H|HBP1_ENST00000485846.1_Missense_Mutation_p.R151H	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	151					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TCCTATGCACGCCCTCCACCA	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18822	0.0		0.001	False		,,,				2504	0.0					ENST00000222574.4																			0				large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						c.(451-453)cGc>cAc		HMG-box transcription factor 1							181.0	160.0	167.0					7																	106826299		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106826299G>A	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.452G>A	7.37:g.106826299G>A	ENSP00000222574:p.Arg151His					HBP1_ENST00000485846.1_Missense_Mutation_p.R151H|HBP1_ENST00000468410.1_Missense_Mutation_p.R151H	p.R151H	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN			4	638	+			151					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.452G>A	CCDS5741.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.742618	0.96873	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99194	-5.54;-5.54;-5.54	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.98820	0.9602	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.982;0.959	D	0.99918	1.1239	10	0.72032	D	0.01	-10.6874	20.8794	0.99867	0.0:0.0:1.0:0.0	.	161;151;151	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	H	151;151;151;143	ENSP00000420500:R151H;ENSP00000222574:R151H;ENSP00000418738:R151H	ENSP00000222574:R151H	R	+	2	0	HBP1	106613535	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	9.414000	0.97362	2.941000	0.99782	0.655000	0.94253	CGC		0.423	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		39	61	0	0	0	0.834066	0	39	61				
EPHA3	2042	broad.mit.edu	37	3	89498433	89498433	+	Missense_Mutation	SNP	C	C	G	rs369423490		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr3:89498433C>G	ENST00000336596.2	+	14	2630	c.2405C>G	c.(2404-2406)aCg>aGg	p.T802R	EPHA3_ENST00000494014.1_Missense_Mutation_p.T802R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CGCAAGTTCACGTCAGCCAGC	0.438										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				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						c.(2404-2406)aCg>aGg		EPH receptor A3		C	ARG/THR	0,4406		0,0,2203	232.0	216.0	221.0		2405	5.3	1.0	3		221	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA3	NM_005233.5	71	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	802/984	89498433	1,13005	2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89498433C>G	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.2405C>G	3.37:g.89498433C>G	ENSP00000337451:p.Thr802Arg	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.T802R	p.T802R	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	14	2630	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	802			Protein kinase.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.2405C>G	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.498387	0.85069	0.0	1.16E-4	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.66099	-0.19;-0.19	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84620	0.5512	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88049	0.2786	9	.	.	.	.	19.0702	0.93130	0.0:1.0:0.0:0.0	.	802	P29320	EPHA3_HUMAN	R	802	ENSP00000337451:T802R;ENSP00000419190:T802R	.	T	+	2	0	EPHA3	89581123	1.000000	0.71417	0.951000	0.38953	0.818000	0.46254	7.772000	0.85439	2.507000	0.84556	0.655000	0.94253	ACG		0.438	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		25	71	0	0	0	0.681144	0	25	71				
INHA	3623	broad.mit.edu	37	2	220439822	220439822	+	Silent	SNP	T	T	C	rs139608664		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr2:220439822T>C	ENST00000243786.2	+	2	855	c.675T>C	c.(673-675)agT>agC	p.S225S		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	225					cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|erythrocyte differentiation (GO:0030218)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|ovarian follicle development (GO:0001541)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|regulation of cell cycle (GO:0051726)|regulation of cell proliferation (GO:0042127)|response to external stimulus (GO:0009605)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|inhibin A complex (GO:0043512)|inhibin-betaglycan-ActRII complex (GO:0034673)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|receptor binding (GO:0005102)			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GACCACCCAGTGGAGGGGAGA	0.692																																						ENST00000243786.2																			0				large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(673-675)agT>agC		inhibin, alpha							37.0	40.0	39.0					2																	220439822		2203	4300	6503	SO:0001819	synonymous_variant	3623				cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity	g.chr2:220439822T>C		CCDS2444.1	2q35	2013-09-19			ENSG00000123999	ENSG00000123999			6065	protein-coding gene	gene with protein product		147380				3345731	Standard	NM_002191		Approved		uc002vmk.2	P05111	OTTHUMG00000059237	ENST00000243786.2:c.675T>C	2.37:g.220439822T>C							p.S225S	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	855	+		Renal(207;0.0183)	225					A8K8H5	Silent	SNP	ENST00000243786.2	37	c.675T>C	CCDS2444.1																																																																																				0.692	INHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131425.1			26	13	0	0	0	0.693898	0	26	13				
AXL	558	broad.mit.edu	37	19	41726662	41726662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:41726662G>A	ENST00000301178.4	+	2	397	c.207G>A	c.(205-207)tgG>tgA	p.W69*	CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Nonsense_Mutation_p.W69*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	69	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGGTACATTGGCTTCGGGATG	0.627																																						ENST00000301178.4																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						c.(205-207)tgG>tgA		AXL receptor tyrosine kinase							56.0	54.0	55.0					19																	41726662		2203	4300	6503	SO:0001587	stop_gained	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726662G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.207G>A	19.37:g.41726662G>A	ENSP00000301178:p.Trp69*					AXL_ENST00000359092.3_Nonsense_Mutation_p.W69*|AXL_ENST00000594880.1_3'UTR	p.W69*	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN			2	397	+			69			Ig-like C2-type 1.|Interaction with GAS6.		Q8N5L2|Q9UD27	Nonsense_Mutation	SNP	ENST00000301178.4	37	c.207G>A	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	37	6.065738	0.97251	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	.	.	.	4.47	4.47	0.54385	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3885	14.2046	0.65725	0.0:0.0:1.0:0.0	.	.	.	.	X	69	.	ENSP00000301178:W69X	W	+	3	0	AXL	46418502	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	5.707000	0.68370	2.342000	0.79632	0.175000	0.17021	TGG		0.627	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			12	28	0	0	0	0.387290	0	12	28				
NUBP2	10101	broad.mit.edu	37	16	1836869	1836869	+	Missense_Mutation	SNP	C	C	T	rs375596127		TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr16:1836869C>T	ENST00000262302.9	+	3	367	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	NUBP2_ENST00000568706.1_Intron|NUBP2_ENST00000565134.1_Missense_Mutation_p.R83W|NUBP2_ENST00000543305.1_Intron|NUBP2_ENST00000565987.1_Missense_Mutation_p.R23W	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1			nucleotide binding protein 2											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCCTGGACCGGGAGCAGAG	0.677																																						ENST00000262302.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(247-249)Cgg>Tgg		nucleotide binding protein 2		C	TRP/ARG	1,4391	2.1+/-5.4	0,1,2195	34.0	35.0	35.0		247	4.3	1.0	16		35	0,8596		0,0,4298	no	missense	NUBP2	NM_012225.2	101	0,1,6493	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	83/272	1836869	1,12987	2196	4298	6494	SO:0001583	missense	10101					microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding	g.chr16:1836869C>T	AF118394	CCDS10445.1, CCDS66898.1	16p13.3	2011-05-19	2011-05-19		ENSG00000095906	ENSG00000095906			8042	protein-coding gene	gene with protein product		610779	"""nucleotide binding protein 2 (E.coli MinD like)"", ""nucleotide binding protein 2 (MinD homolog, E. coli)"""			10486206	Standard	XM_005255025		Approved	CFD1	uc002cmw.4	Q9Y5Y2	OTTHUMG00000128639	ENST00000262302.9:c.247C>T	16.37:g.1836869C>T	ENSP00000262302:p.Arg83Trp					NUBP2_ENST00000565134.1_Missense_Mutation_p.R83W|NUBP2_ENST00000543305.1_Intron|NUBP2_ENST00000568706.1_Intron|NUBP2_ENST00000565987.1_Missense_Mutation_p.R23W	p.R83W	NM_012225.2	NP_036357.1	Q9Y5Y2	NUBP2_HUMAN			3	367	+			83						Missense_Mutation	SNP	ENST00000262302.9	37	c.247C>T	CCDS10445.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737498	0.49045	2.28E-4	0.0	ENSG00000095906	ENST00000262302	T	0.18810	2.19	4.35	4.35	0.52113	.	0.665580	0.15015	N	0.285352	T	0.22126	0.0533	N	0.08118	0	0.80722	D	1	D	0.56746	0.977	P	0.55303	0.773	T	0.27938	-1.0059	10	0.72032	D	0.01	0.1553	15.4252	0.75045	0.0:1.0:0.0:0.0	.	83	Q9Y5Y2	NUBP2_HUMAN	W	83	ENSP00000262302:R83W	ENSP00000262302:R83W	R	+	1	2	NUBP2	1776870	0.996000	0.38824	0.986000	0.45419	0.329000	0.28539	1.833000	0.39161	1.975000	0.57531	0.491000	0.48974	CGG		0.677	NUBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250510.1	NM_012225		8	29	0	0	0	0.307466	0	8	29				
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gaafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289																																						ENST00000370455.3																			1	Deletion - Frameshift(1)	p.K145fs*48(1)	prostate(1)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						c.(505-507)gafs		small ArfGAP 1							23.0	28.0	26.0					6																	71508370		2184	4254	6438	SO:0001589	frameshift_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71508370delA	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.506delA	6.37:g.71508370delA	ENSP00000359484:p.Glu169fs					SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs	p.E169fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN			6	754	+			169					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Frame_Shift_Del	DEL	ENST00000370455.3	37	c.506delA	CCDS43478.1																																																																																				0.289	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		3	5						3	5	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72685632	72685633	+	RNA	INS	-	-	TAC			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:72685632_72685633insTAC	ENST00000425256.1	-	0	25_26									GTF2I repeat domain containing 2 pseudogene 1																		CAGGGAGGTTTCACCTCACACA	0.49																																						ENST00000425256.1																			0																																																			401375							g.chr7:72685632_72685633insTAC	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72685632_72685633insTAC								NR_002164.1						0	25_26	-									RNA	INS	ENST00000425256.1	37																																																																																						0.490	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		16	36						16	36	---	---	---	---
GTF2IRD2	84163	broad.mit.edu	37	7	74239555	74239556	+	In_Frame_Ins	INS	-	-	TAC			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr7:74239555_74239556insTAC	ENST00000405086.2	-	4	453_454	c.264_265insGTA	c.(262-267)gtgaaa>gtgGTAaaa	p.88_89insV	GTF2IRD2_ENST00000361071.5_In_Frame_Ins_p.88_89insV|GTF2IRD2_ENST00000453619.2_In_Frame_Ins_p.88_89insV	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						CAGGGAGGTTTCACCTCACACA	0.485																																					NSCLC(40;560 1096 7501 40315 49546)	ENST00000405086.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						c.(262-267)gtaacc>gtGTAaacc		GTF2I repeat domain containing 2																																				SO:0001652	inframe_insertion	84163				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:74239555_74239556insTAC	BC047706	CCDS5576.1, CCDS64682.1	7q11.23	2014-05-06			ENSG00000196275	ENSG00000196275			30775	protein-coding gene	gene with protein product	"""transcription factor GTF2IRD2"""	608899				15243160	Standard	NM_173537		Approved	FLJ37938, GTF2IRD2A	uc003ubd.1	Q86UP8	OTTHUMG00000181527	ENST00000405086.2:c.264_265insGTA	7.37:g.74239555_74239556insTAC	ENSP00000385491:p.Val88_Val88dup					GTF2IRD2_ENST00000453619.2_In_Frame_Ins_p.88_89VT>V*T|GTF2IRD2_ENST00000361071.5_In_Frame_Ins_p.88_89VT>V*T	p.88_89VT>V*T	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN			4	453_454	-			88					A8K5W6|B3KUZ2|Q69G40|Q6EKI8|Q6EKI9|Q6NVW2|Q6P7N8|Q86WX4|Q8ND85|Q8NDE5	In_Frame_Ins	INS	ENST00000405086.2	37	c.264_265insGTA	CCDS5576.1																																																																																				0.485	GTF2IRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252712.3	NM_173537		7	33						7	33	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92350418	92350418	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr8:92350418delA	ENST00000276609.3	+	7	1075	c.836delA	c.(835-837)gaafs	p.E279fs	SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.E279fs|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.E279fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACCAATATGGAAAACACATAT	0.303																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(835-837)gafs		solute carrier family 26 (anion exchanger), member 7							114.0	109.0	111.0					8																	92350418		2203	4296	6499	SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92350418delA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.836delA	8.37:g.92350418delA	ENSP00000276609:p.Glu279fs					SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.E279fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.E279fs	p.E279fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		7	1075	+			279						Frame_Shift_Del	DEL	ENST00000276609.3	37	c.836delA	CCDS6254.1																																																																																				0.303	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			17	56						17	56	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62622801	62622804	+	5'Flank	DEL	AGAA	AGAA	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr11:62622801_62622804delAGAA	ENST00000377890.2	+	0	0				SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000516331.1_RNA|SLC3A2_ENST00000377892.1_5'Flank|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000384756.1_RNA|SLC3A2_ENST00000377889.2_5'Flank|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000364799.1_RNA|SLC3A2_ENST00000377891.2_5'Flank|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000384706.1_RNA|SLC3A2_ENST00000535296.1_5'Flank	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTAATCCATCAGAAAGAGAGAGTT	0.426																																						ENST00000384147.1																			0																	0,2332		0,0,1166						5.6	1.0			80	25,4583		12,1,2291	no	near-gene-5				12,1,3457	A1A1,A1R,RR		0.5425,0.0,0.3602				25,6915				SO:0001631	upstream_gene_variant	23642							g.chr11:62622801_62622804delAGAA		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091		11.37:g.62622801_62622804delAGAA	Exception_encountered							NR_002564.1						0	34_37	-								Q13543	RNA	DEL	ENST00000377890.2	37		CCDS8039.2																																																																																				0.426	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		19	41						19	41	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50190329	50190329	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:50190329delC	ENST00000284509.6	-	22	2550	c.2409delG	c.(2407-2409)aagfs	p.K804fs	ATP8B4_ENST00000559829.1_Frame_Shift_Del_p.K804fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	804						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.K803K(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)		TTCTGTACTTCTTCACCAGCT	0.433																																						ENST00000284509.6																			1	Substitution - coding silent(1)	p.K803K(1)	cervix(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						c.(2407-2409)aafs		ATPase, class I, type 8B, member 4							152.0	125.0	134.0					15																	50190329		2196	4295	6491	SO:0001589	frameshift_variant	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.chr15:50190329delC	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.2409delG	15.37:g.50190329delC	ENSP00000284509:p.Lys804fs					ATP8B4_ENST00000559829.1_Frame_Shift_Del_p.K804fs	p.K804fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	22	2550	-		all_lung(180;0.00183)	804					Q9H727	Frame_Shift_Del	DEL	ENST00000284509.6	37	c.2409delG	CCDS32238.1																																																																																				0.433	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		31	50						31	50	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-	rs554759799|rs529134831|rs548880213	byFrequency	TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249									DNM1 pseudogene 51																		TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586														762	0.152157	0.146	0.3256	5008	,	,		24353	0.1339		0.1481	False		,,,				2504	0.0603					ENST00000558801.1																			0																																																			114817							g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957480_84957499delGGCCCCACATCCATTGAGAA														0	7230_7249	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.586	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			4	2						4	2	---	---	---	---
C17orf104	284071	broad.mit.edu	37	17	42746783	42746783	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr17:42746783delA	ENST00000409122.2	+	6	2497	c.2355delA	c.(2353-2355)ggafs	p.G785fs	C17orf104_ENST00000409464.1_Frame_Shift_Del_p.G619fs|C17orf104_ENST00000359945.3_Frame_Shift_Del_p.G785fs	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	785										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						ATTATCCTGGAAAAAAAGTAT	0.353																																						ENST00000409122.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						c.(2353-2355)ggfs		chromosome 17 open reading frame 104							37.0	35.0	36.0					17																	42746783		2201	4288	6489	SO:0001589	frameshift_variant	284071							g.chr17:42746783delA		CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.2355delA	17.37:g.42746783delA	ENSP00000386452:p.Gly785fs					C17orf104_ENST00000409464.1_Frame_Shift_Del_p.G619fs|C17orf104_ENST00000359945.3_Frame_Shift_Del_p.G785fs	p.G785fs	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN			6	2497	+			785					B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Frame_Shift_Del	DEL	ENST00000409122.2	37	c.2355delA	CCDS45703.2																																																																																				0.353	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329171.2	NM_001145080		2	4						2	4	---	---	---	---
ZNF43	7594	broad.mit.edu	37	19	21992490	21992491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chr19:21992490_21992491insT	ENST00000354959.4	-	4	517_518	c.348_349insA	c.(346-351)aaagacfs	p.D117fs	ZNF43_ENST00000595461.1_Frame_Shift_Ins_p.D111fs|ZNF43_ENST00000598381.1_Frame_Shift_Ins_p.D111fs|ZNF43_ENST00000594012.1_Frame_Shift_Ins_p.D111fs	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	117					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTTATGGTCTTTTTTTAAAT	0.351																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(328-333)aaaccafs		zinc finger protein 43																																				SO:0001589	frameshift_variant	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21992490_21992491insT	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.349dupA	19.37:g.21992497_21992497dupT	ENSP00000347045:p.Asp117fs					ZNF43_ENST00000598381.1_Frame_Shift_Ins_p.P111fs|ZNF43_ENST00000595461.1_Frame_Shift_Ins_p.P111fs|ZNF43_ENST00000354959.4_Frame_Shift_Ins_p.P117fs	p.P111fs	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	844_845	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	117					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Frame_Shift_Ins	INS	ENST00000354959.4	37	c.330_331insA	CCDS12413.2																																																																																				0.351	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		18	55						18	55	---	---	---	---
DGKK	139189	broad.mit.edu	37	X	50113399	50113399	+	RNA	DEL	C	C	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:50113399delC	ENST00000376025.2	-	0	3795							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCTTCATGACCCCTCTGCCT	0.517																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							90.0	90.0	90.0					X																	50113399		1965	4133	6098			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50113399delC	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50113399delC										Q5KSL6	DGKK_HUMAN			0	3795	-	Ovarian(276;0.236)							B2RP91	RNA	DEL	ENST00000376025.2	37																																																																																						0.517	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		2	4						2	4	---	---	---	---
ZXDA	7789	broad.mit.edu	37	X	57935195	57935196	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-7068-01A-11D-2078-08	TCGA-CQ-7068-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a96e61-f2dc-4af4-807a-3925c1ffbf43	526c06c6-9eb5-4273-a2cb-0162444e9d46	g.chrX:57935195_57935196delAG	ENST00000358697.4	-	1	1871_1872	c.1659_1660delCT	c.(1657-1662)ctcttcfs	p.F554fs		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	554	Required for interaction with ZXDC.				positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTGGATGTGAAGAGTTTATTAC	0.485																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(1657-1662)cttcfs		zinc finger, X-linked, duplicated A																																				SO:0001589	frameshift_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57935195_57935196delAG	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.1659_1660delCT	X.37:g.57935197_57935198delAG	ENSP00000351530:p.Phe554fs						p.LF553fs	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	1871_1872	-			553			Required for interaction with ZXDC.		Q9UJP7	Frame_Shift_Del	DEL	ENST00000358697.4	37	c.1659_1660delCT	CCDS14376.1																																																																																				0.485	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		10	24						10	24	---	---	---	---
