#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
PCDH11X	27328	broad.mit.edu	37	X	91134233	91134233	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:91134233G>A	ENST00000373094.1	+	2	3839	c.2994G>A	c.(2992-2994)gtG>gtA	p.V998V	PCDH11X_ENST00000361655.2_Silent_p.V998V|PCDH11X_ENST00000504220.2_Silent_p.V998V|PCDH11X_ENST00000395337.2_Silent_p.V998V|PCDH11X_ENST00000373097.1_Silent_p.V998V|PCDH11X_ENST00000373088.1_Silent_p.V998V|PCDH11X_ENST00000298274.8_Silent_p.V998V|PCDH11X_ENST00000361724.1_Silent_p.V998V|PCDH11X_ENST00000406881.1_Silent_p.V998V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	998					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCTATCCAGTGACGACCTTCG	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2992-2994)gtG>gtA		protocadherin 11 X-linked							211.0	165.0	181.0					X																	91134233		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91134233G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2994G>A	X.37:g.91134233G>A						PCDH11X_ENST00000373088.1_Silent_p.V998V|PCDH11X_ENST00000373097.1_Silent_p.V998V|PCDH11X_ENST00000395337.2_Silent_p.V998V|PCDH11X_ENST00000361655.2_Silent_p.V998V|PCDH11X_ENST00000361724.1_Silent_p.V998V|PCDH11X_ENST00000406881.1_Silent_p.V998V|PCDH11X_ENST00000298274.8_Silent_p.V998V|PCDH11X_ENST00000504220.1_Silent_p.V998V	p.V998V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3839	+			998					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.2994G>A	CCDS14461.1																																																																																				0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		17	77	0	0	0	1	0	17	77				
TRIO	7204	broad.mit.edu	37	5	14401070	14401070	+	Splice_Site	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr5:14401070A>G	ENST00000344204.4	+	31	4638		c.e31-1		TRIO_ENST00000537187.1_Splice_Site	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTTTATCCAGACCTCAGAG	0.403																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.e31-1		trio Rho guanine nucleotide exchange factor							59.0	58.0	58.0					5																	14401070		2203	4300	6503	SO:0001630	splice_region_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14401070A>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.4615-1A>G	5.37:g.14401070A>G						TRIO_ENST00000537187.1_Splice_Site		NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			31	4638	+	Lung NSC(4;0.000742)							D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Splice_Site	SNP	ENST00000344204.4	37		CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257154	0.80246	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000513206	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8773	0.79173	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIO	14454070	1.000000	0.71417	0.993000	0.49108	0.959000	0.62525	9.287000	0.95975	2.149000	0.67028	0.533000	0.62120	.		0.403	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	Intron	9	20	0	0	0	1	0	9	20				
PGC	5225	broad.mit.edu	37	6	41708282	41708282	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:41708282C>G	ENST00000373025.3	-	6	776	c.714G>C	c.(712-714)caG>caC	p.Q238H		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	238					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCCAGTAGATCTGCCCCGTGT	0.617																																						ENST00000373025.3																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16						c.(712-714)caG>caC		progastricsin (pepsinogen C)							113.0	110.0	111.0					6																	41708282		2203	4300	6503	SO:0001583	missense	5225				digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	g.chr6:41708282C>G		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.714G>C	6.37:g.41708282C>G	ENSP00000362116:p.Gln238His						p.Q238H	NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		6	776	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		238					B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	37	c.714G>C	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828150	0.50845	.	.	ENSG00000096088	ENST00000373025	T	0.29917	1.55	5.08	-0.324	0.12706	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.916459	0.09306	N	0.820211	T	0.34716	0.0907	M	0.84585	2.705	0.09310	N	0.999998	P	0.46142	0.873	P	0.52109	0.69	T	0.36939	-0.9727	10	0.72032	D	0.01	.	12.2429	0.54553	0.0:0.4399:0.4927:0.0674	.	238	P20142	PEPC_HUMAN	H	238	ENSP00000362116:Q238H	ENSP00000362116:Q238H	Q	-	3	2	PGC	41816260	0.000000	0.05858	0.047000	0.18901	0.009000	0.06853	-0.966000	0.03825	0.021000	0.15133	0.561000	0.74099	CAG		0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2			6	108	0	0	0	1	0	6	108				
RABGGTA	5875	broad.mit.edu	37	14	24736895	24736895	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:24736895C>T	ENST00000399409.3	-	13	1807	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	RABGGTA_ENST00000216840.6_Missense_Mutation_p.E442K|RABGGTA_ENST00000560777.1_Missense_Mutation_p.E51K|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	442					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		ACACGCACCTCGGCATACTCC	0.617																																						ENST00000399409.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12						c.(1324-1326)Gag>Aag		Rab geranylgeranyltransferase, alpha subunit							54.0	56.0	55.0					14																	24736895		2181	4271	6452	SO:0001583	missense	5875				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding	g.chr14:24736895C>T		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1324G>A	14.37:g.24736895C>T	ENSP00000382341:p.Glu442Lys					RABGGTA_ENST00000216840.6_Missense_Mutation_p.E442K|RABGGTA_ENST00000560777.1_Missense_Mutation_p.E51K	p.E442K	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	13	1807	-			442					A8K5N2|D3DS69	Missense_Mutation	SNP	ENST00000399409.3	37	c.1324G>A	CCDS45088.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.873956	0.72180	.	.	ENSG00000100949	ENST00000216840;ENST00000399409	T;T	0.49139	0.79;0.79	5.43	5.43	0.79202	.	0.220091	0.36409	N	0.002611	T	0.43809	0.1264	L	0.45228	1.405	0.58432	D	0.99999	B	0.23316	0.083	B	0.21546	0.035	T	0.36744	-0.9735	10	0.62326	D	0.03	-0.4967	16.1673	0.81777	0.0:1.0:0.0:0.0	.	442	Q92696	PGTA_HUMAN	K	442	ENSP00000216840:E442K;ENSP00000382341:E442K	ENSP00000216840:E442K	E	-	1	0	RABGGTA	23806735	1.000000	0.71417	0.371000	0.25978	0.718000	0.41266	6.231000	0.72307	2.571000	0.86741	0.563000	0.77884	GAG		0.617	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836		6	18	0	0	0	1	0	6	18				
MT1E	4493	broad.mit.edu	37	16	56660685	56660685	+	Intron	SNP	A	A	G	rs117777471	byFrequency	TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:56660685A>G	ENST00000306061.6	+	3	471				MT1E_ENST00000568293.1_Intron|MT1E_ENST00000330439.6_Silent_p.K112K	NM_175617.3	NP_783316.2	P04732	MT1E_HUMAN	metallothionein 1E						cellular response to cadmium ion (GO:0071276)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)										AGACGAAAAAAAGCATCCTCT	0.542													.|||	175	0.0349441	0.0076	0.0576	5008	,	,		17823	0.0		0.1123	False		,,,				2504	0.0123					ENST00000330439.6																			0											c.(334-336)aaA>aaG		metallothionein 1E																																				SO:0001627	intron_variant	4493					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding	g.chr16:56660685A>G	BC009699	CCDS10764.2	16q13	2008-08-11	2007-03-02		ENSG00000169715	ENSG00000169715		"""Metallothioneins"""	7397	protein-coding gene	gene with protein product		156351		MT1		6089206, 2581970	Standard	XM_005255956		Approved	MTD	uc002ejl.3	P04732	OTTHUMG00000133014	ENST00000306061.6:c.95-107A>G	16.37:g.56660685A>G						MT1E_ENST00000306061.6_Intron|MT1E_ENST00000568293.1_Intron	p.K112K			P04732	MT1E_HUMAN			2	390	+			0					A2RRF7|Q86YX4|Q8TD51	Silent	SNP	ENST00000306061.6	37	c.336A>G	CCDS10764.2																																																																																				0.542	MT1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256600.1	NM_175617		3	25	0	0	0	1	0	3	25				
CRH	1392	broad.mit.edu	37	8	67089181	67089181	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:67089181C>T	ENST00000276571.3	-	2	978	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	corticotropin releasing hormone	178					adrenal gland development (GO:0030325)|associative learning (GO:0008306)|cellular response to cocaine (GO:0071314)|cellular response to dexamethasone stimulus (GO:0071549)|diterpenoid metabolic process (GO:0016101)|feeding behavior (GO:0007631)|female pregnancy (GO:0007565)|ferulate metabolic process (GO:0033494)|glucocorticoid biosynthetic process (GO:0006704)|hormone-mediated apoptotic signaling pathway (GO:0008628)|hypothalamus development (GO:0021854)|inflammatory response (GO:0006954)|ion homeostasis (GO:0050801)|learning or memory (GO:0007611)|locomotory exploration behavior (GO:0035641)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|lung development (GO:0030324)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell death (GO:0060548)|negative regulation of circadian sleep/wake cycle, REM sleep (GO:0042322)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gene expression (GO:0010629)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of luteinizing hormone secretion (GO:0033685)|negative regulation of norepinephrine secretion (GO:0010700)|parturition (GO:0007567)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of corticotropin secretion (GO:0051461)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of digestive system process (GO:0060456)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein phosphorylation (GO:0001934)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of serotonin secretion (GO:0014062)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to immobilization stress (GO:0035902)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|varicosity (GO:0043196)	hormone activity (GO:0005179)|neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		Corticotropin(DB01285)	GCTAACTGCTCGGCCCTGGCC	0.532											OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000276571.3																			0				breast(1)|endometrium(1)|lung(2)|urinary_tract(1)	5						c.(532-534)Gag>Aag		corticotropin releasing hormone	Corticotropin(DB01285)						66.0	62.0	64.0					8																	67089181		2203	4300	6503	SO:0001583	missense	1392				female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity	g.chr8:67089181C>T		CCDS6188.1	8q13	2013-02-25				ENSG00000147571		"""Endogenous ligands"""	2355	protein-coding gene	gene with protein product	"""corticotropin-releasing factor"", ""corticoliberin"""	122560					Standard	NM_000756		Approved	CRF	uc003xvy.2	P06850		ENST00000276571.3:c.532G>A	8.37:g.67089181C>T	ENSP00000276571:p.Glu178Lys		OREG0018805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1096		p.E178K	NM_000756.2	NP_000747.1	P06850	CRF_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		2	978	-		all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011)	178					B3KQS4	Missense_Mutation	SNP	ENST00000276571.3	37	c.532G>A	CCDS6188.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.860480	0.91433	.	.	ENSG00000147571	ENST00000276571	.	.	.	6.04	4.24	0.50183	Corticotropin-releasing factor, CRF (2);	0.054943	0.64402	D	0.000001	T	0.49695	0.1572	M	0.64404	1.975	0.80722	D	1	P	0.51351	0.944	B	0.40825	0.341	T	0.55134	-0.8188	9	0.87932	D	0	.	12.0792	0.53662	0.0:0.8136:0.1216:0.0648	.	178	P06850	CRF_HUMAN	K	178	.	ENSP00000276571:E178K	E	-	1	0	CRH	67251735	1.000000	0.71417	0.704000	0.30370	0.998000	0.95712	6.058000	0.71126	0.876000	0.35872	0.563000	0.77884	GAG		0.532	CRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378926.1	NM_000756		10	48	0	0	0	1	0	10	48				
KIAA1644	85352	broad.mit.edu	37	22	44692710	44692710	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr22:44692710G>A	ENST00000381176.4	-	3	255	c.123C>T	c.(121-123)taC>taT	p.Y41Y		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	41						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				AGCCAAAGTGGTAGCGGCCTT	0.547																																						ENST00000381176.4																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						c.(121-123)taC>taT		KIAA1644							142.0	160.0	154.0					22																	44692710		2097	4229	6326	SO:0001819	synonymous_variant	85352					integral to membrane		g.chr22:44692710G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.123C>T	22.37:g.44692710G>A							p.Y41Y	NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN			3	255	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	41					A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	ENST00000381176.4	37	c.123C>T	CCDS43025.1																																																																																				0.547	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294		10	170	0	0	0	1	0	10	170				
LPA	4018	broad.mit.edu	37	6	161020532	161020532	+	Splice_Site	SNP	G	G	A	rs375355500		TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:161020532G>A	ENST00000316300.5	-	20	3331	c.3287C>T	c.(3286-3288)gCt>gTt	p.A1096V	LPA_ENST00000447678.1_Splice_Site_p.A1096V			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3604	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAAGACGTACGCATTTGGGTA	0.488																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.e21+1		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)	G	VAL/ALA	2,4398	4.2+/-10.8	0,2,2198	290.0	314.0	306.0		3287	0.2	0.9	6		306	0,8598		0,0,4299	no	missense-near-splice	LPA	NM_005577.2	64	0,2,6497	AA,AG,GG		0.0,0.0455,0.0154	probably-damaging	1096/2041	161020532	2,12996	2200	4299	6499	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020532G>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3287+1C>T	6.37:g.161020532G>A						LPA_ENST00000316300.5_Splice_Site_p.A1096_splice	p.A1096_splice	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	21	3407	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3604			Kringle 10.		Q5VTD7|Q9UD88	Splice_Site	SNP	ENST00000316300.5	37	c.3287_splice	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	13.83	2.353017	0.41700	4.55E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.66995	-0.24;-0.24	2.48	0.154	0.14901	Kringle (4);Kringle-like fold (1);	.	.	.	.	T	0.65386	0.2686	M	0.74467	2.265	0.09310	N	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.51787	-0.8661	8	.	.	.	.	4.1239	0.10118	0.0:0.2644:0.4665:0.2691	.	3604	P08519	APOA_HUMAN	V	1096	ENSP00000321334:A1096V;ENSP00000395608:A1096V	.	A	-	2	0	LPA	160940522	0.996000	0.38824	0.883000	0.34634	0.009000	0.06853	1.582000	0.36568	0.320000	0.23234	-0.662000	0.03851	GCT		0.488	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	Missense_Mutation	20	246	0	0	0	1	0	20	246				
NBAS	51594	broad.mit.edu	37	2	15372601	15372601	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:15372601G>T	ENST00000281513.5	-	47	6206	c.6181C>A	c.(6181-6183)Cca>Aca	p.P2061T	NBAS_ENST00000441750.1_Missense_Mutation_p.P1941T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2061					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACCTTCAGTGGGTCCCTTGGC	0.473																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(6181-6183)Cca>Aca		neuroblastoma amplified sequence							96.0	75.0	82.0					2																	15372601		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15372601G>T	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6181C>A	2.37:g.15372601G>T	ENSP00000281513:p.Pro2061Thr					NBAS_ENST00000441750.1_Missense_Mutation_p.P1941T	p.P2061T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			47	6206	-			2061					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.6181C>A	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977454	0.53720	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000417461	T;T;T	0.56611	2.81;2.99;0.45	5.67	5.67	0.87782	.	0.047336	0.85682	D	0.000000	T	0.72104	0.3419	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.74348	0.983;0.949	T	0.73956	-0.3819	10	0.87932	D	0	.	18.7575	0.91838	0.0:0.0:1.0:0.0	.	1941;2061	A2RRP1-2;A2RRP1	.;NBAS_HUMAN	T	1941;2061;153	ENSP00000413201:P1941T;ENSP00000281513:P2061T;ENSP00000392421:P153T	ENSP00000281513:P2061T	P	-	1	0	NBAS	15290052	1.000000	0.71417	0.996000	0.52242	0.040000	0.13550	5.887000	0.69751	2.674000	0.91012	0.655000	0.94253	CCA		0.473	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		6	31	1	0	5.18039e-06	1	5.56892e-06	6	31				
CNTN2	6900	broad.mit.edu	37	1	205042245	205042245	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:205042245G>A	ENST00000331830.4	+	22	3178	c.2894G>A	c.(2893-2895)gGc>gAc	p.G965D		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	965	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTCACCGGCAAGAACTGG	0.562																																					Melanoma(183;2548 2817 37099 41192)	ENST00000331830.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54						c.(2893-2895)gGc>gAc		contactin 2 (axonal)							85.0	73.0	77.0					1																	205042245		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042245G>A	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2894G>A	1.37:g.205042245G>A	ENSP00000330633:p.Gly965Asp						p.G965D	NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		22	3178	+	all_cancers(21;0.144)|Breast(84;0.0437)		965			Fibronectin type-III 4.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.2894G>A	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136579	0.21123	.	.	ENSG00000184144	ENST00000331830	T	0.16324	2.35	5.29	-0.869	0.10649	Fibronectin, type III (2);	0.561922	0.16962	N	0.192464	T	0.08044	0.0201	N	0.14661	0.345	0.19300	N	0.999974	B	0.17268	0.021	B	0.22601	0.04	T	0.23833	-1.0177	10	0.54805	T	0.06	.	3.5006	0.07672	0.2459:0.1122:0.5274:0.1145	.	965	Q02246	CNTN2_HUMAN	D	965	ENSP00000330633:G965D	ENSP00000330633:G965D	G	+	2	0	CNTN2	203308868	0.886000	0.30341	0.455000	0.27031	0.368000	0.29767	-0.176000	0.09811	0.014000	0.14944	0.655000	0.94253	GGC		0.562	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		3	34	0	0	0	1	0	3	34				
NELL2	4753	broad.mit.edu	37	12	44917200	44917200	+	Silent	SNP	G	G	A	rs201592050		TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:44917200G>A	ENST00000429094.2	-	17	2376	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	NELL2_ENST00000395487.2_Silent_p.G623G|NELL2_ENST00000452445.2_Silent_p.G624G|NELL2_ENST00000333837.4_Silent_p.G647G|NELL2_ENST00000549027.1_Silent_p.G623G|NELL2_ENST00000551601.1_Silent_p.G576G|NELL2_ENST00000437801.2_Silent_p.G674G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	624	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AATCATATCCGCCATCCAAAT	0.443																																						ENST00000429094.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1870-1872)ggC>ggT		NEL-like 2 (chicken)		G	,,,,	0,4406		0,0,2203	129.0	124.0	125.0		2022,1872,1869,1941,1872	-5.8	0.8	12		125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NELL2	NM_001145107.1,NM_001145108.1,NM_001145109.1,NM_001145110.1,NM_006159.2	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	674/867,624/817,623/816,647/840,624/817	44917200	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44917200G>A	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1872C>T	12.37:g.44917200G>A						NELL2_ENST00000549027.1_Silent_p.G623G|NELL2_ENST00000437801.2_Silent_p.G674G|NELL2_ENST00000551601.1_Silent_p.G576G|NELL2_ENST00000395487.2_Silent_p.G623G|NELL2_ENST00000333837.4_Silent_p.G647G|NELL2_ENST00000452445.2_Silent_p.G624G	p.G624G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	17	2376	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	624			EGF-like 6; calcium-binding (Potential).		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1872C>T	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262146	0.23051	0.0	1.16E-4	ENSG00000184613	ENST00000550139	.	.	.	5.56	-5.76	0.02376	.	.	.	.	.	T	0.38825	0.1055	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36696	-0.9737	4	.	.	.	-17.8153	3.6082	0.08050	0.5168:0.2676:0.1234:0.0922	.	.	.	.	W	37	.	.	R	-	1	2	NELL2	43203467	0.999000	0.42202	0.829000	0.32907	0.984000	0.73092	0.842000	0.27627	-1.438000	0.01965	-1.138000	0.01928	CGG		0.443	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		9	71	0	0	0	1	0	9	71				
OR5T3	390154	broad.mit.edu	37	11	56020573	56020573	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:56020573C>A	ENST00000303059.3	+	1	898	c.898C>A	c.(898-900)Cat>Aat	p.H300N		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TGCTTCAGACCATGACATCAT	0.388																																						ENST00000303059.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39						c.(898-900)Cat>Aat		olfactory receptor, family 5, subfamily T, member 3							132.0	119.0	124.0					11																	56020573		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020573C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.898C>A	11.37:g.56020573C>A	ENSP00000305403:p.His300Asn						p.H300N	NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN			1	898	+	Esophageal squamous(21;0.00448)		300					Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.898C>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	2.982	-0.210065	0.06140	.	.	ENSG00000172489	ENST00000303059	T	0.00069	8.77	4.46	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.133941	0.33980	N	0.004362	T	0.00109	0.0003	N	0.16903	0.455	0.09310	N	1	B	0.17465	0.022	B	0.27076	0.076	T	0.10314	-1.0635	10	0.34782	T	0.22	.	9.7668	0.40565	0.344:0.5372:0.1187:0.0	.	300	Q8NGG3	OR5T3_HUMAN	N	300	ENSP00000305403:H300N	ENSP00000305403:H300N	H	+	1	0	OR5T3	55777149	0.000000	0.05858	0.595000	0.28798	0.243000	0.25628	-1.682000	0.01935	1.191000	0.43056	0.643000	0.83706	CAT		0.388	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		6	89	1	0	0.00116845	1	0.00122544	6	89				
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2																			0																																																			339005							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T								NR_003521.1						0	1785	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		3	16	0	0	0	1	0	3	16				
OR13F1	138805	broad.mit.edu	37	9	107266698	107266698	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:107266698A>G	ENST00000334726.2	+	1	244	c.155A>G	c.(154-156)gAt>gGt	p.D52G		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACCATTCTAGATTCCCACCTG	0.483																																						ENST00000334726.2																			0				endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(154-156)gAt>gGt		olfactory receptor, family 13, subfamily F, member 1							199.0	166.0	177.0					9																	107266698		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266698A>G		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.155A>G	9.37:g.107266698A>G	ENSP00000334452:p.Asp52Gly						p.D52G	NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN			1	244	+			52					Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.155A>G	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598001	0.46318	.	.	ENSG00000186881	ENST00000334726	T	0.00932	5.53	3.91	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000104	T	0.07188	0.0182	H	0.95294	3.65	0.26515	N	0.97454	D	0.69078	0.997	D	0.65987	0.94	T	0.05099	-1.0906	10	0.87932	D	0	.	9.4848	0.38922	1.0:0.0:0.0:0.0	.	52	Q8NGS4	O13F1_HUMAN	G	52	ENSP00000334452:D52G	ENSP00000334452:D52G	D	+	2	0	OR13F1	106306519	0.002000	0.14202	0.999000	0.59377	0.432000	0.31715	1.003000	0.29809	1.997000	0.58415	0.529000	0.55759	GAT		0.483	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			12	104	0	0	0	1	0	12	104				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	24	0	0	0	1	0	3	24				
CPNE3	8895	broad.mit.edu	37	8	87544758	87544758	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:87544758G>T	ENST00000521271.1	+	6	571	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	CPNE3_ENST00000198765.4_Missense_Mutation_p.D137Y	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	137	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AGAAATAAAAGATAATAGAGT	0.328																																						ENST00000521271.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(409-411)Gat>Tat		copine III							108.0	121.0	117.0					8																	87544758		2203	4297	6500	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87544758G>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.409G>T	8.37:g.87544758G>T	ENSP00000430934:p.Asp137Tyr					CPNE3_ENST00000198765.4_Missense_Mutation_p.D137Y	p.D137Y	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN			6	571	+			137			C2 2.		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.409G>T	CCDS6243.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.893110|4.893110	0.91889|0.91889	.|.	.|.	ENSG00000085719|ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072;ENST00000517771;ENST00000523469|ENST00000517391	T;T;T;T;T|T	0.45668|0.18174	3.35;3.35;0.89;2.11;2.21|2.23	5.6|5.6	5.6|5.6	0.85130|0.85130	C2 calcium/lipid-binding domain, CaLB (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.42877|0.42877	0.1222|0.1222	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.13308|0.13308	-1.0514|-1.0514	10|7	0.72032|0.34782	D|T	0.01|0.22	-15.6394|-15.6394	19.604|19.604	0.95574|0.95574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	137|.	O75131|.	CPNE3_HUMAN|.	Y|N	137|53	ENSP00000198765:D137Y;ENSP00000430934:D137Y;ENSP00000427791:D137Y;ENSP00000429194:D137Y;ENSP00000429561:D137Y|ENSP00000428561:K53N	ENSP00000198765:D137Y|ENSP00000428561:K53N	D|K	+|+	1|3	0|2	CPNE3|CPNE3	87613874|87613874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	9.827000|9.827000	0.99397|0.99397	2.642000|2.642000	0.89623|0.89623	0.591000|0.591000	0.81541|0.81541	GAT|AAG		0.328	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			8	142	1	0	0.00307968	1	0.003153	8	142				
GIGYF1	64599	broad.mit.edu	37	7	100284282	100284282	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:100284282G>A	ENST00000275732.5	-	7	1893	c.684C>T	c.(682-684)tcC>tcT	p.S228S	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	228					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CAGGGCTGGCGGAGCGCCAGC	0.697																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(682-684)tcC>tcT		GRB10 interacting GYF protein 1							30.0	37.0	35.0					7																	100284282		2189	4278	6467	SO:0001819	synonymous_variant	64599							g.chr7:100284282G>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.684C>T	7.37:g.100284282G>A						GIGYF1_ENST00000471340.2_Intron	p.S228S	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1893	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		228					Q6Y7W7|Q8WZ38	Silent	SNP	ENST00000275732.5	37	c.684C>T	CCDS34708.1																																																																																				0.697	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		18	43	0	0	0	1	0	18	43				
KCNA4	3739	broad.mit.edu	37	11	30032996	30032996	+	Silent	SNP	G	G	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:30032996G>C	ENST00000328224.6	-	2	2463	c.1230C>G	c.(1228-1230)gtC>gtG	p.V410V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	410					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GCAAAATGGAGACAATGTCAA	0.488																																						ENST00000328224.6																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1228-1230)gtC>gtG		potassium voltage-gated channel, shaker-related subfamily, member 4							83.0	79.0	81.0					11																	30032996		2094	4257	6351	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032996G>C	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1230C>G	11.37:g.30032996G>C							p.V410V	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN			2	2463	-			410						Silent	SNP	ENST00000328224.6	37	c.1230C>G	CCDS41629.1																																																																																				0.488	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		5	65	0	0	0	1	0	5	65				
RCOR2	283248	broad.mit.edu	37	11	63679869	63679869	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:63679869C>T	ENST00000301459.4	-	11	1552	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	RCOR2_ENST00000473926.2_5'Flank	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	389					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						CCATCCTGCTCAGCCTCCCAT	0.597																																						ENST00000301459.4																			0				kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						c.(1165-1167)Gag>Aag		REST corepressor 2							56.0	67.0	64.0					11																	63679869		2200	4297	6497	SO:0001583	missense	283248				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr11:63679869C>T	BC010608	CCDS8052.1	11q13.1	2008-02-05			ENSG00000167771	ENSG00000167771			27455	protein-coding gene	gene with protein product						12477932	Standard	NM_173587		Approved		uc001nyc.3	Q8IZ40	OTTHUMG00000150472	ENST00000301459.4:c.1165G>A	11.37:g.63679869C>T	ENSP00000301459:p.Glu389Lys						p.E389K	NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN			11	1552	-			389					Q96FP3	Missense_Mutation	SNP	ENST00000301459.4	37	c.1165G>A	CCDS8052.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346344	0.95807	.	.	ENSG00000167771	ENST00000301459	T	0.42513	0.97	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.62723	1.935	0.58432	D	0.999998	D	0.56521	0.976	P	0.60117	0.869	T	0.49194	-0.8965	10	0.18710	T	0.47	.	16.6282	0.84992	0.0:1.0:0.0:0.0	.	389	Q8IZ40	RCOR2_HUMAN	K	389	ENSP00000301459:E389K	ENSP00000301459:E389K	E	-	1	0	RCOR2	63436445	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.265000	0.78442	2.536000	0.85505	0.561000	0.74099	GAG		0.597	RCOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318233.1	NM_173587		16	105	0	0	0	1	0	16	105				
ENAM	10117	broad.mit.edu	37	4	71508562	71508562	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:71508562G>A	ENST00000396073.3	+	9	1700	c.1419G>A	c.(1417-1419)ctG>ctA	p.L473L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	473					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATTATAAACTGCCTCACTCTG	0.378																																						ENST00000396073.3																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1417-1419)ctG>ctA		enamelin							36.0	38.0	38.0					4																	71508562		2187	4298	6485	SO:0001819	synonymous_variant	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508562G>A	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1419G>A	4.37:g.71508562G>A						ENAM_ENST00000472903.1_Intron	p.L473L	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	1700	+			473					Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	c.1419G>A	CCDS3544.2																																																																																				0.378	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		8	13	0	0	0	1	0	8	13				
POLM	27434	broad.mit.edu	37	7	44119175	44119175	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:44119175C>T	ENST00000242248.5	-	4	738	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Missense_Mutation_p.V213I|POLM_ENST00000395831.3_Missense_Mutation_p.V213I	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	213					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTACCTGGACAACCCTAGAG	0.637								DNA polymerases (catalytic subunits)																														ENST00000242248.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(637-639)Gtc>Atc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu							47.0	49.0	48.0					7																	44119175		2203	4300	6503	SO:0001583	missense	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44119175C>T	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.637G>A	7.37:g.44119175C>T	ENSP00000242248:p.Val213Ile					POLM_ENST00000335195.6_Missense_Mutation_p.V213I|POLM_ENST00000395831.3_Missense_Mutation_p.V213I	p.V213I	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN			4	738	-			213					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.637G>A	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	C	2.614	-0.290207	0.05568	.	.	ENSG00000122678	ENST00000335195;ENST00000242248;ENST00000395831	T;T;T	0.30182	1.54;1.54;1.54	5.49	-1.83	0.07833	DNA-directed DNA polymerase X (1);DNA-directed DNA polymerase, family X, beta-like, N-terminal (2);	0.447510	0.25324	N	0.031489	T	0.03915	0.0110	N	0.00094	-2.165	0.09310	N	0.999999	B;B;B;B;B;B	0.32040	0.013;0.065;0.065;0.353;0.002;0.002	B;B;B;B;B;B	0.26416	0.01;0.019;0.019;0.069;0.004;0.003	T	0.46133	-0.9213	10	0.02654	T	1	-25.5209	9.8116	0.40826	0.0:0.3718:0.0:0.6282	.	180;213;213;213;213;213	B4DG75;Q6PIY2;Q9H980;Q86WQ9;Q6P5X8;Q9NP87	.;.;.;.;.;DPOLM_HUMAN	I	213	ENSP00000335141:V213I;ENSP00000242248:V213I;ENSP00000379174:V213I	ENSP00000242248:V213I	V	-	1	0	POLM	44085700	0.001000	0.12720	0.061000	0.19648	0.891000	0.51852	-0.655000	0.05348	-0.182000	0.10602	0.655000	0.94253	GTC		0.637	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		5	46	0	0	0	1	0	5	46				
ITPK1	3705	broad.mit.edu	37	14	93483111	93483111	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:93483111G>A	ENST00000267615.6	-	4	329	c.156C>T	c.(154-156)ccC>ccT	p.P52P	ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556603.2_Silent_p.P52P|ITPK1_ENST00000354313.3_Silent_p.P52P|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	52					blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TGACGTCCAGGGGGCCCTGCT	0.582																																						ENST00000267615.6																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(154-156)ccC>ccT		inositol-tetrakisphosphate 1-kinase							120.0	98.0	106.0					14																	93483111		2203	4300	6503	SO:0001819	synonymous_variant	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93483111G>A	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.156C>T	14.37:g.93483111G>A						ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556603.2_Silent_p.P52P|ITPK1_ENST00000354313.3_Silent_p.P52P|ITPK1_ENST00000556954.1_5'UTR	p.P52P			Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	4	329	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	52					Q9BTL6|Q9H2E7	Silent	SNP	ENST00000267615.6	37	c.156C>T	CCDS9907.1																																																																																				0.582	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2	NM_014216		10	54	0	0	0	1	0	10	54				
COL11A1	1301	broad.mit.edu	37	1	103348754	103348754	+	Splice_Site	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:103348754C>G	ENST00000370096.3	-	64	5284		c.e64+1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGGTACTTACTCCCTCAGAT	0.363																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e64+1		collagen, type XI, alpha 1							135.0	130.0	132.0					1																	103348754		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103348754C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4971+1G>C	1.37:g.103348754C>G						COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site		NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	64	5325	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37		CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746184	0.89663	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4353	0.94792	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103121342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.603000	0.88011	0.591000	0.81541	.		0.363	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	7	61	0	0	0	1	0	7	61				
N4BP2	55728	broad.mit.edu	37	4	40122006	40122006	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:40122006A>G	ENST00000261435.6	+	9	2691	c.2275A>G	c.(2275-2277)Aga>Gga	p.R759G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	759					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGTGGAAGAAAGAGCAACAGT	0.378																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2275-2277)Aga>Gga		NEDD4 binding protein 2							64.0	71.0	69.0					4																	40122006		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40122006A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2275A>G	4.37:g.40122006A>G	ENSP00000261435:p.Arg759Gly						p.R759G	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			9	2691	+			759					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.2275A>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.90|10.90	1.481151|1.481151	0.26598|0.26598	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000513269|ENST00000261435;ENST00000381804	.|T	.|0.19806	.|2.12	5.79|5.79	3.17|3.17	0.36434|0.36434	.|.	.|0.259509	.|0.35124	.|N	.|0.003434	T|T	0.16128|0.16128	0.0388|0.0388	L|L	0.45581|0.45581	1.43|1.43	0.22719|0.22719	N|N	0.998813|0.998813	.|P;P	.|0.41848	.|0.763;0.651	.|B;B	.|0.36608	.|0.229;0.115	T|T	0.11324|0.11324	-1.0592|-1.0592	5|10	.|0.25106	.|T	.|0.35	-14.5606|-14.5606	10.1218|10.1218	0.42625|0.42625	0.6211:0.2843:0.0:0.0946|0.6211:0.2843:0.0:0.0946	.|.	.|759;759	.|Q86UW6-2;Q86UW6	.|.;N4BP2_HUMAN	R|G	405|759;679	.|ENSP00000261435:R759G	.|ENSP00000261435:R759G	K|R	+|+	2|1	0|2	N4BP2|N4BP2	39798401|39798401	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.821000|0.821000	0.46438|0.46438	2.414000|2.414000	0.44627|0.44627	0.996000|0.996000	0.38943|0.38943	0.454000|0.454000	0.30748|0.30748	AAG|AGA		0.378	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		23	69	0	0	0	1	0	23	69				
GRIN2A	2903	broad.mit.edu	37	16	9858783	9858783	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:9858783C>T	ENST00000396573.2	-	14	2927	c.2618G>A	c.(2617-2619)gGa>gAa	p.G873E	GRIN2A_ENST00000396575.2_Missense_Mutation_p.G873E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G873E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G873E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G716E|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G873E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	873					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AATGTGCACTCCATGAATGCA	0.468																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2617-2619)gGa>gAa		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						105.0	98.0	100.0					16																	9858783		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858783C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2618G>A	16.37:g.9858783C>T	ENSP00000379818:p.Gly873Glu					GRIN2A_ENST00000330684.3_Missense_Mutation_p.G873E|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G873E|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G716E|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G873E|GRIN2A_ENST00000396575.2_Missense_Mutation_p.G873E	p.G873E	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	2927	-			873					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2618G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643342	0.67244	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.20332	2.08;2.15;2.2;2.08;2.08	5.52	5.52	0.82312	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.50849	-0.8779	9	.	.	.	.	18.4623	0.90743	0.0:1.0:0.0:0.0	.	716;873;873	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	E	873;873;716;873;873	ENSP00000379818:G873E;ENSP00000385872:G873E;ENSP00000441572:G716E;ENSP00000332549:G873E;ENSP00000379820:G873E	.	G	-	2	0	GRIN2A	9766284	1.000000	0.71417	0.527000	0.27925	0.859000	0.49053	7.395000	0.79876	2.595000	0.87683	0.655000	0.94253	GGA		0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	72	0	0	0	1	0	6	72				
PCED1B	91523	broad.mit.edu	37	12	47472100	47472100	+	5'Flank	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:47472100G>A	ENST00000546455.1	+	0	0				AMIGO2_ENST00000266581.4_Missense_Mutation_p.P229L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P229L|AMIGO2_ENST00000321382.3_Missense_Mutation_p.P229L|AMIGO2_ENST00000429635.1_Missense_Mutation_p.P229L			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)										ACAGACAAATGGGTTTCCATG	0.428																																						ENST00000266581.4																			0				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(685-687)cCa>cTa		adhesion molecule with Ig-like domain 2							65.0	53.0	57.0					12																	47472100		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472100G>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472100G>A	Exception_encountered					AMIGO2_ENST00000429635.1_Missense_Mutation_p.P229L|AMIGO2_ENST00000321382.3_Missense_Mutation_p.P229L|AMIGO2_ENST00000550413.1_Missense_Mutation_p.P229L	p.P229L	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN			2	1152	-	Renal(347;0.138)|Lung SC(27;0.192)		229			LRRCT.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.686C>T	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438954	0.83885	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.02890	4.12;4.12;4.12;4.12	4.78	4.78	0.61160	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.11965	0.0291	M	0.69358	2.11	0.80722	D	1	D	0.60160	0.987	P	0.58970	0.849	T	0.00314	-1.1824	10	0.87932	D	0	-10.8999	17.6717	0.88220	0.0:0.0:1.0:0.0	.	229	Q86SJ2	AMGO2_HUMAN	L	229	ENSP00000266581:P229L;ENSP00000449034:P229L;ENSP00000406020:P229L;ENSP00000320848:P229L	ENSP00000266581:P229L	P	-	2	0	AMIGO2	45758367	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	9.609000	0.98334	2.585000	0.87301	0.555000	0.69702	CCA		0.428	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		10	34	0	0	0	1	0	10	34				
KIF26B	55083	broad.mit.edu	37	1	245850065	245850065	+	Silent	SNP	G	G	A	rs568690550		TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:245850065G>A	ENST00000407071.2	+	12	4220	c.3780G>A	c.(3778-3780)ccG>ccA	p.P1260P	KIF26B_ENST00000366518.4_Silent_p.P879P	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1260					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGCCCCTCCCGAAGATGAGCC	0.632													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19219	0.0		0.0	False		,,,				2504	0.0					ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(2635-2637)ccG>ccA		kinesin family member 26B							35.0	40.0	38.0					1																	245850065		2149	4245	6394	SO:0001819	synonymous_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850065G>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3780G>A	1.37:g.245850065G>A						KIF26B_ENST00000407071.2_Silent_p.P1260P	p.P879P			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	2741	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1260					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	ENST00000407071.2	37	c.2637G>A	CCDS44342.1																																																																																				0.632	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		3	19	0	0	0	1	0	3	19				
ANKAR	150709	broad.mit.edu	37	2	190584435	190584435	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:190584435C>G	ENST00000520309.1	+	11	2450	c.2362C>G	c.(2362-2364)Cta>Gta	p.L788V	ANKAR_ENST00000431575.2_Missense_Mutation_p.L717V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L788V|ANKAR_ENST00000438402.2_Missense_Mutation_p.L788V|ANKAR_ENST00000281412.6_Missense_Mutation_p.L552V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	788						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CATTCCATCTCTAATCAACCT	0.408																																						ENST00000520309.1																			0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(2362-2364)Cta>Gta		ankyrin and armadillo repeat containing							137.0	123.0	128.0					2																	190584435		2203	4300	6503	SO:0001583	missense	150709					integral to membrane	binding	g.chr2:190584435C>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.2362C>G	2.37:g.190584435C>G	ENSP00000427882:p.Leu788Val					ANKAR_ENST00000438402.2_Missense_Mutation_p.L788V|ANKAR_ENST00000431575.2_Missense_Mutation_p.L717V|ANKAR_ENST00000313581.4_Missense_Mutation_p.L788V|ANKAR_ENST00000281412.6_Missense_Mutation_p.L552V	p.L788V	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		11	2450	+			788					Q3ZCS6|Q4G0M2|Q6ZU02	Missense_Mutation	SNP	ENST00000520309.1	37	c.2362C>G	CCDS33351.2	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983132	0.18889	.	.	ENSG00000151687	ENST00000520309;ENST00000313581;ENST00000438402;ENST00000431575;ENST00000281412	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.31	1.27	0.21489	.	0.256239	0.24952	N	0.034296	T	0.41834	0.1176	L	0.42487	1.325	0.09310	N	0.999997	.	.	.	.	.	.	T	0.24119	-1.0169	8	0.25751	T	0.34	-1.3714	5.661	0.17668	0.0:0.5009:0.2636:0.2355	.	.	.	.	V	788;788;788;717;552	ENSP00000427882:L788V;ENSP00000313513:L788V;ENSP00000397243:L788V;ENSP00000393043:L717V;ENSP00000281412:L552V	ENSP00000281412:L552V	L	+	1	2	ANKAR	190292680	0.001000	0.12720	0.027000	0.17364	0.684000	0.39900	-0.470000	0.06639	0.016000	0.14998	0.655000	0.94253	CTA		0.408	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	NM_144708		4	29	0	0	0	1	0	4	29				
COL9A1	1297	broad.mit.edu	37	6	70935688	70935688	+	Missense_Mutation	SNP	C	C	T	rs547618159		TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:70935688C>T	ENST00000357250.6	-	37	2686	c.2528G>A	c.(2527-2529)cGt>cAt	p.R843H	COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Missense_Mutation_p.R600H|COL9A1_ENST00000320755.7_Missense_Mutation_p.R600H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	843	Collagen-like 9.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAGGGCCACGCTCCCCCTT	0.438																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(2527-2529)cGt>cAt		collagen, type IX, alpha 1							78.0	72.0	74.0					6																	70935688		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70935688C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2528G>A	6.37:g.70935688C>T	ENSP00000349790:p.Arg843His					COL9A1_ENST00000370499.4_Missense_Mutation_p.R600H|COL9A1_ENST00000320755.7_Missense_Mutation_p.R600H|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR	p.R843H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			37	2686	-			843			Triple-helical region (COL1).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.2528G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802584	0.70682	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.93604	-3.25;-3.25;-3.25	5.43	4.55	0.56014	.	0.046418	0.85682	D	0.000000	D	0.95506	0.8540	M	0.75085	2.285	0.58432	D	0.999997	D;D;P	0.89917	1.0;0.998;0.723	D;P;P	0.75484	0.986;0.822;0.491	D	0.95251	0.8360	10	0.48119	T	0.1	.	16.3218	0.82953	0.0:0.8678:0.1322:0.0	.	843;600;392	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	H	843;600;600	ENSP00000349790:R843H;ENSP00000315252:R600H;ENSP00000359530:R600H	ENSP00000315252:R600H	R	-	2	0	COL9A1	70992409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.670000	0.54569	1.269000	0.44280	0.591000	0.81541	CGT		0.438	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			9	38	0	0	0	1	0	9	38				
PRR14	78994	broad.mit.edu	37	16	30666196	30666196	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:30666196C>T	ENST00000542965.2	+	7	1361	c.905C>T	c.(904-906)tCt>tTt	p.S302F	PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.S302F			Q9BWN1	PRR14_HUMAN	proline rich 14	302	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GGCACTGCGTCTGTCAGCCCC	0.642																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(904-906)tCt>tTt		proline rich 14							44.0	47.0	46.0					16																	30666196		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30666196C>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.905C>T	16.37:g.30666196C>T	ENSP00000441641:p.Ser302Phe					PRR14_ENST00000571654.1_3'UTR|PRR14_ENST00000300835.4_Missense_Mutation_p.S302F	p.S302F			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	1361	+			302			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.905C>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317950	0.23994	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.53423	0.62;0.62	5.24	4.27	0.50696	.	0.769546	0.11812	N	0.527103	T	0.47838	0.1467	L	0.56769	1.78	0.09310	N	1	P	0.44946	0.846	P	0.44990	0.466	T	0.44236	-0.9341	10	0.72032	D	0.01	-2.3456	7.0436	0.25033	0.0:0.7338:0.1762:0.09	.	302	Q9BWN1	PRR14_HUMAN	F	275;302;302	ENSP00000300835:S302F;ENSP00000441641:S302F	ENSP00000287463:S275F	S	+	2	0	PRR14	30573697	0.006000	0.16342	0.154000	0.22540	0.994000	0.84299	1.133000	0.31430	1.400000	0.46741	0.655000	0.94253	TCT		0.642	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		4	39	0	0	0	1	0	4	39				
TTC17	55761	broad.mit.edu	37	11	43380578	43380578	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:43380578T>C	ENST00000039989.4	+	1	88	c.74T>C	c.(73-75)cTt>cCt	p.L25P	TTC17_ENST00000299240.6_Missense_Mutation_p.L25P|RP11-484D2.2_ENST00000526220.1_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	25					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTCCTCAGCCTTTCCGCCTTG	0.716																																						ENST00000039989.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						c.(73-75)cTt>cCt		tetratricopeptide repeat domain 17							11.0	14.0	13.0					11																	43380578		2185	4281	6466	SO:0001583	missense	55761						binding	g.chr11:43380578T>C	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.74T>C	11.37:g.43380578T>C	ENSP00000039989:p.Leu25Pro					RP11-484D2.2_ENST00000526220.1_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.L25P	p.L25P	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN			1	88	+			25					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.74T>C	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440528	0.83993	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.39997	1.05;1.07	5.4	5.4	0.78164	.	0.068160	0.53938	D	0.000051	T	0.55210	0.1906	L	0.40543	1.245	0.58432	D	0.999999	D;D	0.69078	0.995;0.997	D;D	0.80764	0.979;0.994	T	0.57957	-0.7721	10	0.87932	D	0	-13.8943	13.7988	0.63188	0.0:0.0:0.0:1.0	.	25;25	Q96AE7;G3XAB3	TTC17_HUMAN;.	P	25	ENSP00000299240:L25P;ENSP00000039989:L25P	ENSP00000039989:L25P	L	+	2	0	TTC17	43337154	0.998000	0.40836	1.000000	0.80357	0.943000	0.58893	2.697000	0.47060	2.268000	0.75426	0.454000	0.30748	CTT		0.716	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		4	16	0	0	0	1	0	4	16				
TSLP	85480	broad.mit.edu	37	5	110409293	110409293	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr5:110409293A>G	ENST00000344895.3	+	3	500	c.301A>G	c.(301-303)Aaa>Gaa	p.K101E	TSLP_ENST00000379706.4_Missense_Mutation_p.K5E|TSLP_ENST00000420978.2_Missense_Mutation_p.K101E	NM_033035.4	NP_149024.1	Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	101						extracellular space (GO:0005615)				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTTCGCCATGAAAACTAAGGC	0.537																																						ENST00000420978.2																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						c.(301-303)Aaa>Gaa		thymic stromal lymphopoietin							135.0	140.0	138.0					5																	110409293		2202	4300	6502	SO:0001583	missense	85480					extracellular space	cytokine activity	g.chr5:110409293A>G	BC040592	CCDS4101.1	5q22.1	2007-08-24			ENSG00000145777	ENSG00000145777			30743	protein-coding gene	gene with protein product		607003				11418668, 11480573	Standard	NM_033035		Approved		uc003kpb.2	Q969D9	OTTHUMG00000128791	ENST00000344895.3:c.301A>G	5.37:g.110409293A>G	ENSP00000339804:p.Lys101Glu					TSLP_ENST00000344895.3_Missense_Mutation_p.K101E|TSLP_ENST00000379706.4_Missense_Mutation_p.K5E	p.K101E			Q969D9	TSLP_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)	4	1723	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)	101					Q8IW99	Missense_Mutation	SNP	ENST00000344895.3	37	c.301A>G	CCDS4101.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766571	0.31228	.	.	ENSG00000145777	ENST00000420978;ENST00000344895;ENST00000379706	.	.	.	5.16	-9.39	0.00619	.	2.240280	0.01805	N	0.033102	T	0.16342	0.0393	N	0.14661	0.345	0.09310	N	1	B	0.20780	0.048	B	0.14023	0.01	T	0.08953	-1.0697	9	0.35671	T	0.21	0.01	3.3151	0.07030	0.2115:0.3996:0.2848:0.1041	.	101	Q969D9	TSLP_HUMAN	E	101;101;5	.	ENSP00000339804:K101E	K	+	1	0	TSLP	110437192	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.619000	0.05572	-1.628000	0.01548	-0.313000	0.08912	AAA		0.537	TSLP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250717.1	NM_033035		11	110	0	0	0	1	0	11	110				
SH3KBP1	30011	broad.mit.edu	37	X	19587305	19587305	+	Splice_Site	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:19587305C>T	ENST00000397821.3	-	13	1590	c.1300G>A	c.(1300-1302)Ggt>Agt	p.G434S	SH3KBP1_ENST00000379716.1_Splice_Site_p.G196S|SH3KBP1_ENST00000379698.4_Splice_Site_p.G397S|SH3KBP1_ENST00000541422.1_Splice_Site_p.G173S	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	434					apoptotic process (GO:0006915)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|regulation of cell shape (GO:0008360)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGACTGTCACCCCTACATTAA	0.473																																						ENST00000397821.3																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						c.e13-1		SH3-domain kinase binding protein 1							127.0	109.0	115.0					X																	19587305		2203	4300	6503	SO:0001630	splice_region_variant	30011				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding	g.chrX:19587305C>T	AF230904	CCDS14193.1, CCDS35213.1, CCDS55383.1	Xp22.1-p21.3	2008-02-05			ENSG00000147010	ENSG00000147010			13867	protein-coding gene	gene with protein product		300374				8889549, 7566098	Standard	NM_031892		Approved	CIN85	uc004czm.3	Q96B97	OTTHUMG00000021227	ENST00000397821.3:c.1299-1G>A	X.37:g.19587305C>T						SH3KBP1_ENST00000541422.1_Splice_Site_p.G173_splice|SH3KBP1_ENST00000379698.4_Splice_Site_p.G397_splice|SH3KBP1_ENST00000379716.1_Splice_Site_p.G196_splice	p.G434_splice	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN			13	1590	-			434					B7Z1D5|Q5JPT4|Q5JPT5|Q8IWX6|Q8IX98|Q96RN4|Q9NYR0	Splice_Site	SNP	ENST00000397821.3	37	c.1298_splice	CCDS14193.1	.	.	.	.	.	.	.	.	.	.	c	9.768	1.172005	0.21704	.	.	ENSG00000147010	ENST00000379702;ENST00000397821;ENST00000379716;ENST00000379698;ENST00000541422;ENST00000379726	T;T;T;T;T	0.27557	1.66;1.66;1.66;1.66;1.66	6.05	5.08	0.68730	.	0.424896	0.27971	N	0.017114	T	0.08268	0.0206	N	0.01048	-1.04	0.32579	N	0.528686	B;B;B	0.15141	0.001;0.003;0.012	B;B;B	0.15052	0.001;0.008;0.012	T	0.27606	-1.0069	10	0.07990	T	0.79	-8.2854	5.8539	0.18708	0.0:0.832:0.0:0.168	.	196;434;397	Q5JPT4;Q96B97;Q5JPT5	.;SH3K1_HUMAN;.	S	419;434;196;397;173;414	ENSP00000380921:G434S;ENSP00000369039:G196S;ENSP00000369020:G397S;ENSP00000442499:G173S;ENSP00000369049:G414S	ENSP00000369020:G397S	G	-	1	0	SH3KBP1	19497226	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.770000	0.47662	2.554000	0.86153	0.591000	0.81541	GGT		0.473	SH3KBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055992.1	NM_031892	Missense_Mutation	6	37	0	0	0	1	0	6	37				
SF3A3	10946	broad.mit.edu	37	1	38455601	38455601	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:38455601C>A	ENST00000373019.4	-	1	992	c.37G>T	c.(37-39)Gag>Tag	p.E13*	SF3A3_ENST00000448721.2_Nonsense_Mutation_p.E13*|RNU6-510P_ENST00000391239.1_RNA|SF3A3_ENST00000489537.1_5'Flank	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	13					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCTTCTCCTCATGATAGCGC	0.592											OREG0013386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373019.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12						c.(37-39)Gag>Tag		splicing factor 3a, subunit 3, 60kDa							133.0	119.0	123.0					1																	38455601		2203	4300	6503	SO:0001587	stop_gained	10946				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding	g.chr1:38455601C>A	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.37G>T	1.37:g.38455601C>A	ENSP00000362110:p.Glu13*		OREG0013386	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	878	SF3A3_ENST00000448721.2_Nonsense_Mutation_p.E13*	p.E13*	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN			1	992	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	13					D3DPT5|Q15460|Q5VT87	Nonsense_Mutation	SNP	ENST00000373019.4	37	c.37G>T	CCDS428.1	.	.	.	.	.	.	.	.	.	.	C	47	13.511244	0.99746	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.16	5.16	0.70880	.	0.047904	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.4365	18.8363	0.92164	0.0:1.0:0.0:0.0	.	.	.	.	X	13	.	ENSP00000362110:E13X	E	-	1	0	SF3A3	38228188	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.174000	0.77620	2.688000	0.91661	0.460000	0.39030	GAG		0.592	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802		5	86	1	0	0.000602214	1	0.000639388	5	86				
RPL5	6125	broad.mit.edu	37	1	93301776	93301776	+	Silent	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:93301776C>T	ENST00000370321.3	+	5	444	c.354C>T	c.(352-354)atC>atT	p.I118I	SNORD21_ENST00000383953.1_RNA|SNORA66_ENST00000515986.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	118					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGACAAGATCTATGAAGGCC	0.413																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(352-354)atC>atT		ribosomal protein L5							123.0	129.0	127.0					1																	93301776		2203	4300	6503	SO:0001819	synonymous_variant	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93301776C>T	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.354C>T	1.37:g.93301776C>T							p.I118I	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	5	444	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	118					Q32LZ3|Q53HH6|Q9H3F4	Silent	SNP	ENST00000370321.3	37	c.354C>T	CCDS741.1																																																																																				0.413	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		6	104	0	0	0	1	0	6	104				
ZNF91	7644	broad.mit.edu	37	19	23543067	23543067	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:23543067G>C	ENST00000300619.7	-	4	2919	c.2714C>G	c.(2713-2715)aCc>aGc	p.T905S	ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.T873S|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	905					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTTCTCTCTGGTATGAATTCT	0.393																																						ENST00000300619.7																			0											c.(2713-2715)aCc>aGc		zinc finger protein 91							58.0	63.0	61.0					19																	23543067		2183	4293	6476	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543067G>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2714C>G	19.37:g.23543067G>C	ENSP00000300619:p.Thr905Ser					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.T873S	p.T905S	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2919	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	905					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2714C>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	G	8.290	0.817553	0.16607	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.24151	1.87;1.87	1.34	0.0656	0.14357	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17831	0.0428	N	0.17345	0.48	0.26378	N	0.976779	B;P	0.45594	0.17;0.862	B;P	0.46452	0.129;0.517	T	0.14587	-1.0467	9	0.51188	T	0.08	.	6.2617	0.20903	0.1909:0.0:0.8091:0.0	.	873;905	Q05481-2;Q05481	.;ZNF91_HUMAN	S	905;873	ENSP00000300619:T905S;ENSP00000380272:T873S	ENSP00000300619:T905S	T	-	2	0	ZNF91	23334907	0.014000	0.17966	0.001000	0.08648	0.003000	0.03518	0.267000	0.18552	-0.153000	0.11137	0.205000	0.17691	ACC		0.393	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		4	30	0	0	0	1	0	4	30				
ABCA2	20	broad.mit.edu	37	9	139910307	139910307	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:139910307C>G	ENST00000371605.3	-	22	3478	c.3331G>C	c.(3331-3333)Gag>Cag	p.E1111Q	ABCA2_ENST00000265662.5_Missense_Mutation_p.E1112Q|ABCA2_ENST00000492260.1_5'Flank|ABCA2_ENST00000341511.6_Missense_Mutation_p.E1112Q			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1111	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				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)		TTGGAGAGCTCCAGGTCCTCG	0.682																																						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.(3334-3336)Gag>Cag		ATP-binding cassette, sub-family A (ABC1), member 2							38.0	43.0	41.0					9																	139910307		2156	4249	6405	SO:0001583	missense	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.chr9:139910307C>G	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.3331G>C	9.37:g.139910307C>G	ENSP00000360666:p.Glu1111Gln					ABCA2_ENST00000341511.6_Missense_Mutation_p.E1112Q|ABCA2_ENST00000371605.3_Missense_Mutation_p.E1111Q	p.E1112Q			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	23	3481	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1111			ABC transporter 1.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3334G>C		.	.	.	.	.	.	.	.	.	.	C	18.99	3.740148	0.69304	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.99850	-7.16;-7.16;-7.16	3.75	3.75	0.43078	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	U	0.000000	D	0.99515	0.9827	L	0.31526	0.94	0.58432	D	0.999996	D;D	0.71674	0.998;0.996	D;D	0.70716	0.97;0.954	D	0.97642	1.0149	10	0.51188	T	0.08	.	15.8968	0.79341	0.0:1.0:0.0:0.0	.	1111;1142	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	Q	1112;1111;1142;1112	ENSP00000265662:E1112Q;ENSP00000360666:E1111Q;ENSP00000344155:E1112Q	ENSP00000265662:E1112Q	E	-	1	0	ABCA2	139030128	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.222000	0.78025	1.785000	0.52413	0.313000	0.20887	GAG		0.682	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		4	61	0	0	0	1	0	4	61				
PHF20L1	51105	broad.mit.edu	37	8	133829644	133829644	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr8:133829644G>C	ENST00000395386.2	+	12	1732	c.1433G>C	c.(1432-1434)aGt>aCt	p.S478T	PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.S453T	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	478							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTTGACTTAAGTCGTGGTTCA	0.438																																						ENST00000395386.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(1432-1434)aGt>aCt		PHD finger protein 20-like 1							98.0	92.0	94.0					8																	133829644		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133829644G>C	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.1433G>C	8.37:g.133829644G>C	ENSP00000378784:p.Ser478Thr					PHF20L1_ENST00000395390.2_Missense_Mutation_p.S453T|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_Missense_Mutation_p.S348T|PHF20L1_ENST00000395383.1_Missense_Mutation_p.S482T|PHF20L1_ENST00000315808.10_Missense_Mutation_p.S478T	p.S478T	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		12	1732	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		478					A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.1433G>C	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078632	0.76528	.	.	ENSG00000129292	ENST00000395383;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000395382;ENST00000395390	T;T;T;T;T	0.63744	0.12;-0.06;0.92;0.05;0.87	5.27	5.27	0.74061	.	0.216402	0.50627	D	0.000119	T	0.71745	0.3376	L	0.34521	1.04	0.80722	D	1	D;D;D	0.63046	0.974;0.992;0.99	D;D;D	0.76071	0.969;0.987;0.979	T	0.73833	-0.3858	10	0.62326	D	0.03	-8.4419	18.2255	0.89916	0.0:0.0:1.0:0.0	.	453;478;478	F8W9L8;A8MW92;A8MW92-4	.;P20L1_HUMAN;.	T	482;453;478;478;348;453	ENSP00000378781:S482T;ENSP00000355301:S453T;ENSP00000378784:S478T;ENSP00000324519:S478T;ENSP00000378788:S453T	ENSP00000324519:S478T	S	+	2	0	PHF20L1	133898826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.417000	0.73337	2.618000	0.88619	0.585000	0.79938	AGT		0.438	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018		5	64	0	0	0	1	0	5	64				
STXBP1	6812	broad.mit.edu	37	9	130432187	130432187	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr9:130432187C>T	ENST00000373299.1	+	11	1028	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	STXBP1_ENST00000373302.3_Missense_Mutation_p.R305W	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	305					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGAAGTCACCCGGTCTCTGAA	0.438																																						ENST00000373302.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						c.(913-915)Cgg>Tgg		syntaxin binding protein 1							135.0	150.0	145.0					9																	130432187		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130432187C>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.913C>T	9.37:g.130432187C>T	ENSP00000362396:p.Arg305Trp					STXBP1_ENST00000373299.1_Missense_Mutation_p.R305W	p.R305W	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN			11	1052	+			305					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.913C>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436953	0.83885	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.77877	-1.13;-1.13	5.58	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	L	0.39898	1.24	0.80722	D	1	D;D	0.62365	0.991;0.989	D;P	0.64410	0.925;0.812	D	0.83944	0.0313	10	0.87932	D	0	-26.3989	13.7547	0.62928	0.155:0.845:0.0:0.0	.	305;305	P61764;P61764-2	STXB1_HUMAN;.	W	259;305;137;305	ENSP00000362399:R305W;ENSP00000362396:R305W	ENSP00000362396:R305W	R	+	1	2	STXBP1	129472008	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.369000	0.52365	1.450000	0.47717	0.650000	0.86243	CGG		0.438	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	NM_003165		23	132	0	0	0	1	0	23	132				
BOD1L1	259282	broad.mit.edu	37	4	13600870	13600870	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:13600870G>A	ENST00000040738.5	-	10	7789	c.7654C>T	c.(7654-7656)Ctt>Ttt	p.L2552F		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	2552						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCAGCAGGAAGAAAGGAATGC	0.473											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000040738.5																			0											c.(7654-7656)Ctt>Ttt		biorientation of chromosomes in cell division 1-like 1							87.0	76.0	80.0					4																	13600870		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13600870G>A	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.7654C>T	4.37:g.13600870G>A	ENSP00000040738:p.Leu2552Phe		OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	688		p.L2552F	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			10	7789	-			2552					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.7654C>T	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	9.890	1.203974	0.22205	.	.	ENSG00000038219	ENST00000040738	T	0.09073	3.02	4.21	-1.4	0.08968	.	2.090110	0.02634	N	0.104668	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	P	0.39964	0.697	B	0.32864	0.154	T	0.30327	-0.9982	10	0.66056	D	0.02	.	5.6291	0.17499	0.0:0.2757:0.3269:0.3975	.	2552	Q8NFC6	BOD1L_HUMAN	F	2552	ENSP00000040738:L2552F	ENSP00000040738:L2552F	L	-	1	0	BOD1L	13209968	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.107000	0.12088	-0.321000	0.08615	CTT		0.473	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		4	20	0	0	0	1	0	4	20				
WNK3	65267	broad.mit.edu	37	X	54359869	54359869	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chrX:54359869T>C	ENST00000375159.2	-	1	237	c.238A>G	c.(238-240)Aga>Gga	p.R80G	WNK3_ENST00000375169.3_Missense_Mutation_p.R80G|WNK3_ENST00000354646.2_Missense_Mutation_p.R80G			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	80					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCCTTAATTCTCTCATCTTTG	0.398																																						ENST00000354646.2																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(238-240)Aga>Gga		WNK lysine deficient protein kinase 3							121.0	112.0	115.0					X																	54359869		2203	4300	6503	SO:0001583	missense	65267				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	g.chrX:54359869T>C	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.238A>G	X.37:g.54359869T>C	ENSP00000364301:p.Arg80Gly					WNK3_ENST00000375169.3_Missense_Mutation_p.R80G|WNK3_ENST00000375159.2_Missense_Mutation_p.R80G	p.R80G	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN			2	676	-			80					B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	c.238A>G	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.861252	0.32884	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159;ENST00000458404	T;T;T	0.70749	-0.48;-0.51;-0.51	5.4	4.2	0.49525	.	0.113619	0.38548	N	0.001642	T	0.65729	0.2719	L	0.29908	0.895	0.25816	N	0.984334	D;P	0.57571	0.98;0.836	P;B	0.53102	0.718;0.325	T	0.56408	-0.7984	10	0.24483	T	0.36	-10.8226	10.0549	0.42239	0.0:0.0:0.3181:0.6818	.	80;80	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	G	80	ENSP00000364312:R80G;ENSP00000346667:R80G;ENSP00000364301:R80G	ENSP00000346667:R80G	R	-	1	2	WNK3	54376594	0.998000	0.40836	1.000000	0.80357	0.470000	0.32858	1.925000	0.40074	0.664000	0.31047	0.345000	0.21793	AGA		0.398	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056799.2	NM_020922		7	38	0	0	0	1	0	7	38				
SLC30A2	7780	broad.mit.edu	37	1	26369045	26369045	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:26369045A>C	ENST00000374278.3	-	4	796	c.580T>G	c.(580-582)Ttc>Gtc	p.F194V	SLC30A2_ENST00000374276.3_Missense_Mutation_p.F243V|SLC30A2_ENST00000498060.1_5'Flank	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	194					positive regulation of sequestering of zinc ion (GO:0061090)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)	cation transmembrane transporter activity (GO:0008324)			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACCTTGAAGTATAAAATA	0.547																																						ENST00000374278.3																			0				cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13						c.(580-582)Ttc>Gtc		solute carrier family 30 (zinc transporter), member 2							86.0	89.0	88.0					1																	26369045		2203	4300	6503	SO:0001583	missense	7780				positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	g.chr1:26369045A>C	AK023491	CCDS272.1, CCDS30644.1	1p35.3	2013-05-22			ENSG00000158014	ENSG00000158014		"""Solute carriers"""	11013	protein-coding gene	gene with protein product		609617		ZNT2			Standard	NM_001004434		Approved		uc001blg.1	Q9BRI3	OTTHUMG00000007508	ENST00000374278.3:c.580T>G	1.37:g.26369045A>C	ENSP00000363396:p.Phe194Val					SLC30A2_ENST00000374276.3_Missense_Mutation_p.F243V	p.F194V	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)	4	796	-		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	194					Q71RC8	Missense_Mutation	SNP	ENST00000374278.3	37	c.580T>G	CCDS272.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117576	0.77323	.	.	ENSG00000158014	ENST00000374278;ENST00000374276	T;T	0.65178	-0.14;-0.14	5.78	5.78	0.91487	.	0.155671	0.45867	D	0.000337	T	0.70298	0.3208	L	0.61218	1.895	0.80722	D	1	B;P	0.38110	0.235;0.618	B;P	0.48425	0.1;0.577	T	0.71540	-0.4562	10	0.52906	T	0.07	-21.069	15.0901	0.72185	1.0:0.0:0.0:0.0	.	194;243	Q9BRI3;Q9BRI3-2	ZNT2_HUMAN;.	V	194;243	ENSP00000363396:F194V;ENSP00000363394:F243V	ENSP00000363394:F243V	F	-	1	0	SLC30A2	26241632	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.846000	0.69444	2.203000	0.70933	0.448000	0.29417	TTC		0.547	SLC30A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019742.1	NM_032513		8	89	0	0	0	1	0	8	89				
ZNF761	388561	broad.mit.edu	37	19	53958230	53958230	+	RNA	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:53958230G>A	ENST00000454407.1	+	0	922							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATTTCAGACCGAAGAGAAAAT	0.388																																						ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							103.0	104.0	104.0					19																	53958230		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958230G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958230G>A										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	922	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.388	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		7	87	0	0	0	1	0	7	87				
CHRNA1	1134	broad.mit.edu	37	2	175614731	175614731	+	Silent	SNP	G	G	T	rs371524795		TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:175614731G>T	ENST00000261007.5	-	8	1086	c.1020C>A	c.(1018-1020)gtC>gtA	p.V340V	CHRNA1_ENST00000409219.1_Silent_p.V315V|CHRNA1_ENST00000409542.1_Silent_p.V233V|CHRNA1_ENST00000348749.5_Silent_p.V315V|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	340					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GTGTGTTGATGACGATGACAG	0.557																																						ENST00000348749.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(943-945)gtC>gtA		cholinergic receptor, nicotinic, alpha 1 (muscle)							223.0	169.0	187.0					2																	175614731		2203	4300	6503	SO:0001819	synonymous_variant	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175614731G>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.1020C>A	2.37:g.175614731G>T						AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.V233V|CHRNA1_ENST00000409219.1_Silent_p.V315V|CHRNA1_ENST00000261007.5_Silent_p.V340V	p.V315V	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN			7	1022	-			340					B4DRV6|D3DPE8	Silent	SNP	ENST00000261007.5	37	c.945C>A	CCDS33331.1																																																																																				0.557	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			20	35	1	0	2.21704e-12	1	2.47617e-12	20	35				
LAMA3	3909	broad.mit.edu	37	18	21511041	21511041	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr18:21511041G>A	ENST00000313654.9	+	65	8693	c.8452G>A	c.(8452-8454)Gtc>Atc	p.V2818I	LAMA3_ENST00000269217.6_Missense_Mutation_p.V1209I|LAMA3_ENST00000399516.3_Missense_Mutation_p.V2762I|LAMA3_ENST00000587184.1_Missense_Mutation_p.V1153I|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2818	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GAACCTGCAGGTCACTCTGGA	0.388																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8452-8454)Gtc>Atc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						136.0	135.0	135.0					18																	21511041		2203	4300	6503	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21511041G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8452G>A	18.37:g.21511041G>A	ENSP00000324532:p.Val2818Ile					LAMA3_ENST00000269217.6_Missense_Mutation_p.V1209I|LAMA3_ENST00000399516.3_Missense_Mutation_p.V2762I|LAMA3_ENST00000587184.1_Missense_Mutation_p.V1153I|LAMA3_ENST00000588770.1_3'UTR	p.V2818I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			65	8693	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2818			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.8452G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842414	0.32513	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.16597	2.33;2.33;2.33	5.57	3.46	0.39613	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.15046	0.0363	L	0.50919	1.6	0.30654	N	0.755114	B;B;B;B	0.28324	0.103;0.207;0.008;0.015	B;B;B;B	0.28638	0.038;0.092;0.038;0.078	T	0.10965	-1.0607	9	0.19147	T	0.46	.	8.6562	0.34064	0.2008:0.0:0.7992:0.0	.	1153;1209;2762;2818	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	I	2818;2762;1209	ENSP00000324532:V2818I;ENSP00000382432:V2762I;ENSP00000269217:V1209I	ENSP00000269217:V1209I	V	+	1	0	LAMA3	19765039	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	0.941000	0.29005	1.359000	0.45940	-0.140000	0.14226	GTC		0.388	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		33	66	0	0	0	1	0	33	66				
DCLRE1C	64421	broad.mit.edu	37	10	14950607	14950607	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:14950607C>T	ENST00000378278.2	-	14	1916	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.E280K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E512K|DCLRE1C_ENST00000492201.1_5'Flank|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E507K|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E507K			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	627					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E627K(1)|p.E512K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ATATGTGTCTCACTGCTTAGA	0.388								Non-homologous end-joining																														ENST00000453695.2																			2	Substitution - Missense(2)	p.E627K(1)|p.E512K(1)	haematopoietic_and_lymphoid_tissue(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						c.(1519-1521)Gag>Aag	Non-homologous end-joining	DNA cross-link repair 1C							189.0	189.0	189.0					10																	14950607		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14950607C>T	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1879G>A	10.37:g.14950607C>T	ENSP00000367527:p.Glu627Lys					DCLRE1C_ENST00000357717.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.E280K|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.E512K|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.E507K|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.E627K	p.E507K	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN			14	1963	-			627					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.1519G>A	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	C	3.892	-0.023844	0.07634	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.71	1.8	0.24995	.	1.041220	0.07504	N	0.907721	T	0.19485	0.0468	L	0.34521	1.04	0.09310	N	1	B;B	0.24483	0.082;0.104	B;B	0.21546	0.035;0.014	T	0.30937	-0.9961	10	0.46703	T	0.11	.	5.8704	0.18801	0.1188:0.5447:0.0:0.3365	.	512;627	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	K	507;512;512;512;507;507;507;627;507;280	ENSP00000400529:E507K;ENSP00000367492:E512K;ENSP00000350349:E512K;ENSP00000367496:E512K;ENSP00000380030:E507K;ENSP00000367503:E507K;ENSP00000367502:E507K;ENSP00000367527:E627K;ENSP00000367506:E507K;ENSP00000367488:E280K	ENSP00000350349:E512K	E	-	1	0	DCLRE1C	14990613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.468000	0.22051	0.074000	0.16767	-0.484000	0.04775	GAG		0.388	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		14	64	0	0	0	1	0	14	64				
CTNNA3	29119	broad.mit.edu	37	10	67862978	67862978	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:67862978G>T	ENST00000433211.2	-	14	2088	c.1914C>A	c.(1912-1914)gaC>gaA	p.D638E	RP11-210G22.1_ENST00000608793.1_RNA|CTNNA3_ENST00000373744.4_Missense_Mutation_p.D638E	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCTCTTCAAGGTCAGAAACAT	0.458																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1912-1914)gaC>gaA		catenin (cadherin-associated protein), alpha 3							172.0	132.0	146.0					10																	67862978		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67862978G>T	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1914C>A	10.37:g.67862978G>T	ENSP00000389714:p.Asp638Glu					CTNNA3_ENST00000373744.4_Missense_Mutation_p.D638E	p.D638E	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			14	2088	-			638						Missense_Mutation	SNP	ENST00000433211.2	37	c.1914C>A	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872467	0.33069	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.34472	1.36;1.36	5.47	1.51	0.23008	.	0.000000	0.64402	D	0.000015	T	0.26955	0.0660	N	0.05124	-0.11	0.80722	D	1	D	0.63046	0.992	D	0.74348	0.983	T	0.26744	-1.0094	10	0.02654	T	1	-17.6722	7.9902	0.30235	0.3524:0.0:0.6476:0.0	.	638	Q9UI47	CTNA3_HUMAN	E	638	ENSP00000389714:D638E;ENSP00000362849:D638E	ENSP00000362849:D638E	D	-	3	2	CTNNA3	67532984	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.937000	0.28951	0.366000	0.24427	-0.140000	0.14226	GAC		0.458	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		10	39	1	0	1.58986e-06	1	1.73074e-06	10	39				
NLRP5	126206	broad.mit.edu	37	19	56538774	56538774	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:56538774G>A	ENST00000390649.3	+	7	1175	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	392	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R392H(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACCCTCATACGCAGTCTGCTG	0.552																																						ENST00000390649.3																			2	Substitution - Missense(2)	p.R392H(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(1174-1176)cGc>cAc		NLR family, pyrin domain containing 5							48.0	48.0	48.0					19																	56538774		2094	4212	6306	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538774G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1175G>A	19.37:g.56538774G>A	ENSP00000375063:p.Arg392His						p.R392H	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1175	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	392			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1175G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	0.938	-0.710348	0.03230	.	.	ENSG00000171487	ENST00000390649	D	0.81499	-1.5	3.35	-6.71	0.01760	NACHT nucleoside triphosphatase (1);	1.995850	0.02586	N	0.099441	T	0.55065	0.1897	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.56685	-0.7938	10	0.15066	T	0.55	.	16.8368	0.85958	0.1869:0.0:0.8131:0.0	.	392	P59047	NALP5_HUMAN	H	392	ENSP00000375063:R392H	ENSP00000375063:R392H	R	+	2	0	NLRP5	61230586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.310000	0.00517	-2.159000	0.00787	-1.708000	0.00717	CGC		0.552	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		5	18	0	0	0	1	0	5	18				
UNC45B	146862	broad.mit.edu	37	17	33475352	33475352	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr17:33475352G>T	ENST00000268876.5	+	2	167	c.70G>T	c.(70-72)Gcc>Tcc	p.A24S	UNC45B_ENST00000378449.1_Missense_Mutation_p.A24S|UNC45B_ENST00000433649.1_Missense_Mutation_p.A24S|UNC45B_ENST00000591048.1_Missense_Mutation_p.A24S|UNC45B_ENST00000394570.2_Missense_Mutation_p.A24S	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	24					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGACTACAAGGCCGCCACAAA	0.587																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(70-72)Gcc>Tcc		unc-45 homolog B (C. elegans)							74.0	70.0	71.0					17																	33475352		2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33475352G>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.70G>T	17.37:g.33475352G>T	ENSP00000268876:p.Ala24Ser					UNC45B_ENST00000378449.1_Missense_Mutation_p.A24S|UNC45B_ENST00000433649.1_Missense_Mutation_p.A24S|UNC45B_ENST00000394570.2_Missense_Mutation_p.A24S|UNC45B_ENST00000591048.1_Missense_Mutation_p.A24S	p.A24S	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			2	167	+		Ovarian(249;0.17)	24					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.70G>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680885	0.29872	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	4.79	4.79	0.61399	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	0.579546	0.19249	N	0.118973	T	0.40670	0.1126	L	0.33753	1.03	0.25808	N	0.984436	B;B;B	0.28584	0.216;0.002;0.002	B;B;B	0.30251	0.113;0.007;0.012	T	0.20240	-1.0281	10	0.14252	T	0.57	-20.2996	6.1607	0.20362	0.102:0.193:0.705:0.0	.	24;24;24	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	S	24	ENSP00000378071:A24S;ENSP00000268876:A24S;ENSP00000412840:A24S;ENSP00000367710:A24S	ENSP00000268876:A24S	A	+	1	0	UNC45B	30499465	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	2.485000	0.45250	2.494000	0.84150	0.551000	0.68910	GCC		0.587	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		25	50	1	0	1.75199e-13	1	1.98251e-13	25	50				
DRAP1	10589	broad.mit.edu	37	11	65687307	65687307	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr11:65687307G>A	ENST00000312515.2	+	2	344	c.99G>A	c.(97-99)gcG>gcA	p.A33A	DRAP1_ENST00000376991.2_Silent_p.A33A|C11orf68_ENST00000438576.2_5'Flank|C11orf68_ENST00000449692.3_5'Flank|C11orf68_ENST00000530188.1_5'Flank|DRAP1_ENST00000532933.1_Silent_p.A13A|DRAP1_ENST00000527119.1_Intron	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	33	Histone-fold.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		TGGCGGCGGCGGTGCCTGTCA	0.687																																						ENST00000312515.2																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5						c.(97-99)gcG>gcA		DR1-associated protein 1 (negative cofactor 2 alpha)							108.0	65.0	80.0					11																	65687307		2201	4296	6497	SO:0001819	synonymous_variant	10589				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr11:65687307G>A	U41843	CCDS8123.1	11q13	2010-09-29			ENSG00000175550	ENSG00000175550			3019	protein-coding gene	gene with protein product	"""negative cofactor 2 alpha"", ""DR1-associated corepressor"""	602289				8608938	Standard	NM_006442		Approved	NC2-alpha	uc001ogj.2	Q14919	OTTHUMG00000166723	ENST00000312515.2:c.99G>A	11.37:g.65687307G>A						DRAP1_ENST00000532933.1_Silent_p.A13A|DRAP1_ENST00000527119.1_Intron|DRAP1_ENST00000376991.2_Silent_p.A33A	p.A33A	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN		READ - Rectum adenocarcinoma(159;0.166)	2	344	+			33			Histone-fold.		Q13448	Silent	SNP	ENST00000312515.2	37	c.99G>A	CCDS8123.1																																																																																				0.687	DRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391197.2	NM_006442		4	52	0	0	0	1	0	4	52				
CASZ1	54897	broad.mit.edu	37	1	10725221	10725221	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:10725221C>T	ENST00000377022.3	-	5	741	c.424G>A	c.(424-426)Gac>Aac	p.D142N	CASZ1_ENST00000344008.5_Missense_Mutation_p.D142N|CASZ1_ENST00000478728.2_5'UTR	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	142					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GCACCGCCGTCCTTGGAGGGC	0.687																																						ENST00000377022.3																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54						c.(424-426)Gac>Aac		castor zinc finger 1							48.0	42.0	44.0					1																	10725221		2203	4300	6503	SO:0001583	missense	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10725221C>T	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.424G>A	1.37:g.10725221C>T	ENSP00000366221:p.Asp142Asn					CASZ1_ENST00000344008.5_Missense_Mutation_p.D142N|CASZ1_ENST00000478728.2_5'UTR	p.D142N	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	5	741	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	142					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	c.424G>A	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950309	0.34377	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	3.49	0.39957	.	0.250471	0.39020	N	0.001487	T	0.43831	0.1265	L	0.27053	0.805	0.33190	D	0.550792	P;D;B	0.56521	0.804;0.976;0.277	B;P;B	0.50860	0.299;0.652;0.068	T	0.60388	-0.7273	9	0.66056	D	0.02	-9.0522	13.3215	0.60436	0.0:0.9176:0.0:0.0824	.	166;142;142	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	N	142	.	ENSP00000339445:D142N	D	-	1	0	CASZ1	10647808	1.000000	0.71417	0.640000	0.29408	0.055000	0.15305	4.189000	0.58358	2.191000	0.70037	0.511000	0.50034	GAC		0.687	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		7	28	0	0	0	1	0	7	28				
PTPRZ1	5803	broad.mit.edu	37	7	121612604	121612604	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:121612604A>G	ENST00000393386.2	+	4	725	c.314A>G	c.(313-315)aAt>aGt	p.N105S	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N105S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	105	Alpha-carbonic anhydrase.				axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGGAAATTAATCTCACTAAT	0.318																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(313-315)aAt>aGt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							97.0	93.0	94.0					7																	121612604		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121612604A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.314A>G	7.37:g.121612604A>G	ENSP00000377047:p.Asn105Ser					PTPRZ1_ENST00000449182.1_Missense_Mutation_p.N105S	p.N105S	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			4	725	+			105			Alpha-carbonic anhydrase.		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.314A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.797849	0.50208	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.65364	-0.15;-0.15	5.85	5.85	0.93711	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.62865	0.2463	L	0.39633	1.23	0.31302	N	0.688187	P;D	0.60160	0.839;0.987	B;P	0.49047	0.23;0.599	T	0.70000	-0.4992	10	0.62326	D	0.03	.	16.2243	0.82283	1.0:0.0:0.0:0.0	.	105;105	C9JFM0;P23471	.;PTPRZ_HUMAN	S	105	ENSP00000377047:N105S;ENSP00000410000:N105S	ENSP00000377047:N105S	N	+	2	0	PTPRZ1	121399840	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.824000	0.75288	2.235000	0.73313	0.491000	0.48974	AAT		0.318	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		7	29	0	0	0	1	0	7	29				
ZBTB49	166793	broad.mit.edu	37	4	4322518	4322518	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr4:4322518G>T	ENST00000337872.4	+	8	1894	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D	ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D|RP11-265O12.1_ENST00000509015.1_lincRNA	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						CTGGTGACGAGAGCCCAGATG	0.567																																						ENST00000337872.4																			0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						c.(1771-1773)gaG>gaT		zinc finger and BTB domain containing 49							64.0	58.0	60.0					4																	4322518		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4322518G>T	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1773G>T	4.37:g.4322518G>T	ENSP00000338807:p.Glu591Asp					ZBTB49_ENST00000538529.1_Missense_Mutation_p.E74D|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E469D	p.E591D	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN			8	1894	+			591					Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1773G>T	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	9.194	1.026776	0.19512	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14893	2.47;2.84;3.14	4.37	-8.74	0.00838	.	0.845064	0.09971	N	0.732222	T	0.11665	0.0284	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.14309	-1.0477	10	0.42905	T	0.14	.	6.3205	0.21215	0.2092:0.5071:0.138:0.1457	.	469;591	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	D	469;591;74	ENSP00000348091:E469D;ENSP00000338807:E591D;ENSP00000445653:E74D	ENSP00000338807:E591D	E	+	3	2	ZBTB49	4373419	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.010000	0.03656	-3.001000	0.00276	-0.519000	0.04390	GAG		0.567	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		6	35	1	0	0.0293803	1	0.029726	6	35				
CCDC77	84318	broad.mit.edu	37	12	550057	550057	+	Silent	SNP	C	C	T	rs531003434		TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr12:550057C>T	ENST00000239830.4	+	12	1394	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	CCDC77_ENST00000412006.2_Silent_p.R373R|CCDC77_ENST00000540180.1_Silent_p.R373R|CCDC77_ENST00000422000.1_Silent_p.R373R	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	405						centrosome (GO:0005813)|membrane (GO:0016020)				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			TGACAAAACGCTATGAGGCAT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		22480	0.0		0.0	False		,,,				2504	0.001					ENST00000239830.4																			0				cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19						c.(1213-1215)cgC>cgT		coiled-coil domain containing 77							86.0	79.0	81.0					12																	550057		2203	4300	6503	SO:0001819	synonymous_variant	84318					centrosome		g.chr12:550057C>T	AK027638	CCDS8503.1, CCDS44781.1	12p13.33	2006-02-16			ENSG00000120647	ENSG00000120647			28203	protein-coding gene	gene with protein product						12477932	Standard	NM_001130148		Approved	MGC13183	uc001qig.3	Q9BR77	OTTHUMG00000129214	ENST00000239830.4:c.1215C>T	12.37:g.550057C>T						CCDC77_ENST00000412006.2_Silent_p.R373R|CCDC77_ENST00000422000.1_Silent_p.R373R|CCDC77_ENST00000540180.1_Silent_p.R373R	p.R405R	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)		12	1394	+	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		405					B4DDE8	Silent	SNP	ENST00000239830.4	37	c.1215C>T	CCDS8503.1																																																																																				0.448	CCDC77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251296.1	NM_032358		5	39	0	0	0	1	0	5	39				
RNF113B	140432	broad.mit.edu	37	13	98828923	98828923	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr13:98828923C>T	ENST00000267291.6	-	1	596	c.568G>A	c.(568-570)Gat>Aat	p.D190N	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	190							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGCTGGTAATCCCAGCGCACA	0.612																																						ENST00000267291.6																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(568-570)Gat>Aat		ring finger protein 113B							80.0	72.0	75.0					13																	98828923		2203	4300	6503	SO:0001583	missense	140432						nucleic acid binding|zinc ion binding	g.chr13:98828923C>T	AF539427	CCDS9486.1	13q32.2	2006-08-22	2005-03-22	2005-03-22	ENSG00000139797	ENSG00000139797		"""RING-type (C3HC4) zinc fingers"""	17267	protein-coding gene	gene with protein product			"""zinc finger protein 183-like 1"""	ZNF183L1			Standard	NM_178861		Approved	RNF161	uc001vnk.3	Q8IZP6	OTTHUMG00000017245	ENST00000267291.6:c.568G>A	13.37:g.98828923C>T	ENSP00000267291:p.Asp190Asn					FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	p.D190N	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.13)		1	596	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		190					Q8WWF9|Q96QY9	Missense_Mutation	SNP	ENST00000267291.6	37	c.568G>A	CCDS9486.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848979	0.71603	.	.	ENSG00000139797	ENST00000267291	T	0.49720	0.77	1.16	1.16	0.20824	Zinc finger, CCCH-type (2);	0.127637	0.49916	U	0.000139	T	0.69433	0.3110	M	0.92026	3.265	0.52501	D	0.99995	D	0.89917	1.0	D	0.83275	0.996	T	0.72312	-0.4331	10	0.72032	D	0.01	.	8.184	0.31328	0.0:1.0:0.0:0.0	.	190	Q8IZP6	R113B_HUMAN	N	190	ENSP00000267291:D190N	ENSP00000267291:D190N	D	-	1	0	RNF113B	97626924	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.529000	0.53532	0.936000	0.37367	0.484000	0.47621	GAT		0.612	RNF113B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045536.3	NM_178861		12	51	0	0	0	1	0	12	51				
LYPD6B	130576	broad.mit.edu	37	2	150061851	150061851	+	Silent	SNP	T	T	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:150061851T>C	ENST00000409029.1	+	4	292	c.90T>C	c.(88-90)gtT>gtC	p.V30V	LYPD6B_ENST00000409642.3_Silent_p.V54V|LYPD6B_ENST00000409876.1_Silent_p.V30V|LYPD6B_ENST00000280115.7_Silent_p.V54V|LYPD6B_ENST00000498249.1_3'UTR			Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	30						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TCCAGATCGTTATCTTCTCAG	0.488																																						ENST00000409642.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(160-162)gtT>gtC		LY6/PLAUR domain containing 6B							195.0	198.0	197.0					2																	150061851		2056	4199	6255	SO:0001819	synonymous_variant	130576					anchored to membrane|plasma membrane		g.chr2:150061851T>C		CCDS46423.1	2q23.2	2012-07-20			ENSG00000150556	ENSG00000150556			27018	protein-coding gene	gene with protein product	"""cancer/testis antigen 116"""					18360792	Standard	NM_177964		Approved	CT116, LYPD7	uc002twv.1	Q8NI32	OTTHUMG00000153743	ENST00000409029.1:c.90T>C	2.37:g.150061851T>C						LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.V54V|LYPD6B_ENST00000409876.1_Silent_p.V30V|LYPD6B_ENST00000409029.1_Silent_p.V30V	p.V54V	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN			4	563	+			30					D3DP90|Q53TK0|Q7Z747|Q8IXK7	Silent	SNP	ENST00000409029.1	37	c.162T>C																																																																																					0.488	LYPD6B-003	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000332299.2	NM_177964		20	140	0	0	0	1	0	20	140				
TP53	7157	broad.mit.edu	37	17	7577025	7577025	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr17:7577025T>A	ENST00000269305.4	-	8	1102	c.913A>T	c.(913-915)Aag>Tag	p.K305*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Nonsense_Mutation_p.K305*|TP53_ENST00000455263.2_Nonsense_Mutation_p.K305*|TP53_ENST00000445888.2_Nonsense_Mutation_p.K305*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K305*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	305	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		K -> E (in a sporadic cancer; somatic mutation).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K305*(19)|p.0?(8)|p.?(3)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTACCTCGCTTAGTGCTCCCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		33	Substitution - Nonsense(19)|Whole gene deletion(8)|Unknown(3)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Missense(1)	p.K305*(19)|p.0?(8)|p.?(3)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(1)	upper_aerodigestive_tract(8)|lung(5)|urinary_tract(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|breast(2)|oesophagus(2)|large_intestine(1)|stomach(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(913-915)Aag>Tag	Other conserved DNA damage response genes	tumor protein p53							118.0	103.0	108.0					17																	7577025		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577025T>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.913A>T	17.37:g.7577025T>A	ENSP00000269305:p.Lys305*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.K305*|TP53_ENST00000359597.4_Nonsense_Mutation_p.K305*|TP53_ENST00000445888.2_Nonsense_Mutation_p.K305*|TP53_ENST00000269305.4_Nonsense_Mutation_p.K305*	p.K305*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1045	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	305		K -> E (in a sporadic cancer; somatic mutation).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; somatic mutation).	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.913A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.043953	0.93685	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	5.26	0.73747	.	1.688560	0.03760	N	0.258052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.76	11.4858	0.50352	0.0:0.0:0.0:1.0	.	.	.	.	X	305;305;305;305;305;294;173	.	ENSP00000269305:K305X	K	-	1	0	TP53	7517750	1.000000	0.71417	0.901000	0.35422	0.316000	0.28119	4.679000	0.61649	2.208000	0.71279	0.459000	0.35465	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	34	0	0	0	1	0	33	34				
SEMA5B	54437	broad.mit.edu	37	3	122634290	122634290	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:122634290G>A	ENST00000357599.3	-	14	2371	c.1985C>T	c.(1984-1986)tCc>tTc	p.S662F	SEMA5B_ENST00000195173.4_Missense_Mutation_p.S662F|SEMA5B_ENST00000451055.2_Missense_Mutation_p.S716F	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	662					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CACATACCTGGAGCAGTTGGC	0.602																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(1984-1986)tCc>tTc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							65.0	62.0	63.0					3																	122634290		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122634290G>A	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1985C>T	3.37:g.122634290G>A	ENSP00000350215:p.Ser662Phe					SEMA5B_ENST00000451055.2_Missense_Mutation_p.S716F|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S662F	p.S662F			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	14	2288	-			662					A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.1985C>T	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.680712	0.88542	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.36699	1.24;1.25;1.31;1.35	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.70903	2.155	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.99;0.993	T	0.64833	-0.6314	10	0.87932	D	0	.	17.2003	0.86904	0.0:0.0:1.0:0.0	.	604;662;662	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	F	662;662;604;716;662	ENSP00000350215:S662F;ENSP00000195173:S662F;ENSP00000389588:S716F;ENSP00000377208:S662F	ENSP00000195173:S662F	S	-	2	0	SEMA5B	124116980	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.585000	0.98223	2.520000	0.84964	0.561000	0.74099	TCC		0.602	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		20	41	0	0	0	1	0	20	41				
ZNF33A	7581	broad.mit.edu	37	10	38306271	38306271	+	Silent	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr10:38306271G>A	ENST00000458705.2	+	4	365	c.207G>A	c.(205-207)gaG>gaA	p.E69E	ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Silent_p.E69E|ZNF33A_ENST00000374618.3_Silent_p.E69E|ZNF33A_ENST00000432900.2_Silent_p.E76E|ZNF33A_ENST00000307441.9_Silent_p.E69E			Q06730	ZN33A_HUMAN	zinc finger protein 33A	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AAGGAGAAGAGCCATGGAAAC	0.433																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(205-207)gaG>gaA		zinc finger protein 33A							158.0	154.0	155.0					10																	38306271		2203	4300	6503	SO:0001819	synonymous_variant	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38306271G>A	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.207G>A	10.37:g.38306271G>A						ZNF33A_ENST00000458705.2_Silent_p.E69E|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_Silent_p.E69E|ZNF33A_ENST00000307441.9_Silent_p.E69E|ZNF33A_ENST00000432900.2_Silent_p.E76E	p.E69E	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			4	385	+			69			KRAB.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	37	c.207G>A	CCDS31182.1																																																																																				0.433	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		5	66	0	0	0	1	0	5	66				
ZNF417	147687	broad.mit.edu	37	19	58420104	58420104	+	Silent	SNP	A	A	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:58420104A>G	ENST00000312026.5	-	3	1706	c.1542T>C	c.(1540-1542)caT>caC	p.H514H	ZNF417_ENST00000595559.1_Silent_p.H513H|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.H315H	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	514					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TTTGTCCAGAATGAACTCTTT	0.408																																						ENST00000312026.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18						c.(1540-1542)caT>caC		zinc finger protein 417							88.0	82.0	84.0					19																	58420104		2203	4298	6501	SO:0001819	synonymous_variant	147687				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58420104A>G	BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.1542T>C	19.37:g.58420104A>G						CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.H315H|ZNF417_ENST00000595559.1_Silent_p.H513H	p.H514H	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)	3	1706	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	514					B4DEU1	Silent	SNP	ENST00000312026.5	37	c.1542T>C	CCDS12965.1																																																																																				0.408	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1	NM_152475		19	68	0	0	0	1	0	19	68				
CLEC14A	161198	broad.mit.edu	37	14	38724551	38724551	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:38724551C>A	ENST00000342213.2	-	1	1023	c.677G>T	c.(676-678)tGc>tTc	p.C226F		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	226						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GTCCGCGATGCAAGTAACTGA	0.652																																						ENST00000342213.2																			0				breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						c.(676-678)tGc>tTc		C-type lectin domain family 14, member A							98.0	105.0	103.0					14																	38724551		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724551C>A		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.677G>T	14.37:g.38724551C>A	ENSP00000353013:p.Cys226Phe						p.C226F	NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1023	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		226					Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.677G>T	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.483624	0.44147	.	.	ENSG00000176435	ENST00000342213	T	0.81330	-1.48	4.13	4.13	0.48395	.	0.000000	0.39083	N	0.001462	D	0.83238	0.5211	L	0.29908	0.895	0.40987	D	0.984821	D	0.71674	0.998	D	0.78314	0.991	D	0.85470	0.1172	10	0.87932	D	0	-13.4956	14.1978	0.65682	0.0:1.0:0.0:0.0	.	226	Q86T13	CLC14_HUMAN	F	226	ENSP00000353013:C226F	ENSP00000353013:C226F	C	-	2	0	CLEC14A	37794302	0.992000	0.36948	0.979000	0.43373	0.126000	0.20510	2.691000	0.47010	2.609000	0.88269	0.591000	0.81541	TGC		0.652	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		35	117	1	0	6.53348e-20	1	7.49172e-20	35	117				
FBLN5	10516	broad.mit.edu	37	14	92353600	92353600	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr14:92353600C>T	ENST00000342058.4	-	7	1269	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	FBLN5_ENST00000267620.10_Missense_Mutation_p.G267S|FBLN5_ENST00000556154.1_Missense_Mutation_p.G231S	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	226	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ATGAAAGAGCCGTAGGTGTTG	0.522																																						ENST00000267620.10																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28						c.(799-801)Ggc>Agc		fibulin 5							212.0	174.0	187.0					14																	92353600		2203	4300	6503	SO:0001583	missense	10516				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	g.chr14:92353600C>T	AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.676G>A	14.37:g.92353600C>T	ENSP00000345008:p.Gly226Ser					FBLN5_ENST00000556154.1_Missense_Mutation_p.G231S|FBLN5_ENST00000342058.4_Missense_Mutation_p.G226S	p.G267S			Q9UBX5	FBLN5_HUMAN			8	968	-		all_cancers(154;0.0722)	226			EGF-like 5; calcium-binding (Potential).		O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	ENST00000342058.4	37	c.799G>A	CCDS9898.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582583	0.96578	.	.	ENSG00000140092	ENST00000267620;ENST00000342058;ENST00000556154	D;D;D	0.95412	-3.7;-3.7;-3.7	5.3	5.3	0.74995	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.997	D	0.99211	1.0876	10	0.87932	D	0	.	19.3023	0.94148	0.0:1.0:0.0:0.0	.	267;231;226	G3XA98;G3V4U0;Q9UBX5	.;.;FBLN5_HUMAN	S	267;226;231	ENSP00000267620:G267S;ENSP00000345008:G226S;ENSP00000451982:G231S	ENSP00000267620:G323S	G	-	1	0	FBLN5	91423353	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	7.776000	0.85560	2.639000	0.89480	0.561000	0.74099	GGC		0.522	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411787.1			21	132	0	0	0	1	0	21	132				
EPRS	2058	broad.mit.edu	37	1	220170347	220170347	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:220170347A>C	ENST00000366923.3	-	18	2788	c.2519T>G	c.(2518-2520)cTa>cGa	p.L840R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	840	3 X 57 AA approximate repeats.|WHEP-TRS 2.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	TTCAGCTTTTAGCTTACGAAC	0.378																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(2518-2520)cTa>cGa		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						129.0	136.0	134.0					1																	220170347		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220170347A>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.2519T>G	1.37:g.220170347A>C	ENSP00000355890:p.Leu840Arg						p.L840R	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	18	2788	-			840			3 X 57 AA approximate repeats.|WHEP-TRS 2.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.2519T>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792767	0.90453	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.66815	-0.23	5.76	5.76	0.90799	WHEP-TRS (3);S15/NS1, RNA-binding (2);	0.000000	0.85682	D	0.000000	D	0.87704	0.6244	H	0.96208	3.785	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.997	D	0.91575	0.5274	10	0.87932	D	0	-12.8815	16.087	0.81065	1.0:0.0:0.0:0.0	.	864;847;840	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	R	840;847;864	ENSP00000355890:L840R	ENSP00000355890:L840R	L	-	2	0	EPRS	218236970	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.672000	0.91181	2.202000	0.70862	0.533000	0.62120	CTA		0.378	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		11	89	0	0	0	1	0	11	89				
DST	667	broad.mit.edu	37	6	56495095	56495095	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:56495095T>G	ENST00000361203.3	-	27	3603	c.3596A>C	c.(3595-3597)gAa>gCa	p.E1199A	DST_ENST00000244364.6_Missense_Mutation_p.E873A|DST_ENST00000421834.2_Missense_Mutation_p.E1199A|DST_ENST00000312431.6_Missense_Mutation_p.E1199A|DST_ENST00000370765.6_Missense_Mutation_p.E873A|DST_ENST00000370788.2_Missense_Mutation_p.E1199A|DST_ENST00000370769.4_Missense_Mutation_p.E1199A|DST_ENST00000370754.5_Missense_Mutation_p.E1377A|DST_ENST00000518935.1_Missense_Mutation_p.E873A|DST_ENST00000446842.2_Missense_Mutation_p.E873A			Q03001	DYST_HUMAN	dystonin	1199					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATAACTGCTTCTTCTTCACA	0.308																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4129-4131)gAa>gCa		dystonin							87.0	87.0	87.0					6																	56495095		2202	4298	6500	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56495095T>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3596A>C	6.37:g.56495095T>G	ENSP00000354508:p.Glu1199Ala					DST_ENST00000370765.6_Missense_Mutation_p.E873A|DST_ENST00000370788.2_Missense_Mutation_p.E1199A|DST_ENST00000361203.3_Missense_Mutation_p.E1199A|DST_ENST00000370769.4_Missense_Mutation_p.E1199A|DST_ENST00000518935.1_Missense_Mutation_p.E873A|DST_ENST00000446842.2_Missense_Mutation_p.E873A|DST_ENST00000421834.2_Missense_Mutation_p.E1199A|DST_ENST00000244364.6_Missense_Mutation_p.E873A|DST_ENST00000312431.6_Missense_Mutation_p.E1199A	p.E1377A			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		30	4129	-	Lung NSC(77;0.103)		1199					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4130A>C		.	.	.	.	.	.	.	.	.	.	T	32	5.154343	0.94686	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;T;T;T;T;D;T;T;D;D;D;D	0.83755	-1.76;-0.14;-0.14;-0.03;0.81;-1.76;-0.07;-0.18;-1.76;-1.76;-1.76;-1.76	5.9	5.9	0.94986	.	0.000000	0.53938	D	0.000050	D	0.84732	0.5537	L	0.41824	1.3	0.28087	N	0.931972	P;D;P;B;B;P;P;B	0.69078	0.799;0.997;0.799;0.026;0.328;0.841;0.799;0.065	B;D;B;B;B;P;B;B	0.73380	0.156;0.98;0.156;0.016;0.237;0.774;0.156;0.079	D	0.85985	0.1485	9	0.51188	T	0.08	.	16.3317	0.83023	0.0:0.0:0.0:1.0	.	1199;1199;1377;873;873;873;1199;873	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	A	873;1377;1199;1199;873;1199;1199;1199;873;1239;873;873	ENSP00000244364:E873A;ENSP00000359790:E1377A;ENSP00000359805:E1199A;ENSP00000400883:E1199A;ENSP00000393645:E873A;ENSP00000307959:E1199A;ENSP00000359824:E1199A;ENSP00000354508:E1199A;ENSP00000404924:E873A;ENSP00000431030:E1239A;ENSP00000359801:E873A;ENSP00000431003:E873A	ENSP00000244364:E873A	E	-	2	0	DST	56603054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.264000	0.75181	0.533000	0.62120	GAA		0.308	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	35	0	0	0	1	0	12	35				
DNMT3L	29947	broad.mit.edu	37	21	45680690	45680690	+	Nonsense_Mutation	SNP	G	G	A	rs368058982		TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr21:45680690G>A	ENST00000418993.1	-	3	622	c.139C>T	c.(139-141)Cga>Tga	p.R47*	DNMT3L_ENST00000270172.3_Nonsense_Mutation_p.R47*	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	47	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TCTATATTTCGCTGGTTAGCC	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19908	0.0		0.0	False		,,,				2504	0.0					ENST00000270172.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11						c.(139-141)Cga>Tga		DNA (cytosine-5-)-methyltransferase 3-like		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	180.0	169.0	173.0		139,139	-3.2	0.0	21		173	0,8598		0,0,4299	no	stop-gained,stop-gained	DNMT3L	NM_013369.2,NM_175867.1	,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,	47/388,47/387	45680690	1,13003	2203	4299	6502	SO:0001587	stop_gained	29947				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	g.chr21:45680690G>A	AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.139C>T	21.37:g.45680690G>A	ENSP00000412862:p.Arg47*					DNMT3L_ENST00000418993.1_Nonsense_Mutation_p.R47*	p.R47*	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN		Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)	3	622	-			47			ADD.		E9PB42|Q9BUJ4	Nonsense_Mutation	SNP	ENST00000418993.1	37	c.139C>T	CCDS46650.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794423	0.90453	2.27E-4	0.0	ENSG00000142182	ENST00000270172;ENST00000418993	.	.	.	3.6	-3.25	0.05079	.	0.227351	0.33691	N	0.004649	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5836	11.6334	0.51189	0.0:0.0:0.2287:0.7713	.	.	.	.	X	47	.	ENSP00000270172:R47X	R	-	1	2	DNMT3L	44505118	0.011000	0.17503	0.000000	0.03702	0.007000	0.05969	0.130000	0.15850	-0.373000	0.07979	-0.521000	0.04368	CGA		0.448	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195820.1	NM_013369		12	77	0	0	0	1	0	12	77				
ALS2	57679	broad.mit.edu	37	2	202588135	202588135	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:202588135T>C	ENST00000264276.6	-	22	3914	c.3542A>G	c.(3541-3543)gAt>gGt	p.D1181G	ALS2_ENST00000457679.2_Missense_Mutation_p.D493G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1181					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACACACATCATCTTGCCACAT	0.383																																						ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(3541-3543)gAt>gGt		amyotrophic lateral sclerosis 2 (juvenile)							228.0	216.0	220.0					2																	202588135		1882	4114	5996	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202588135T>C	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3542A>G	2.37:g.202588135T>C	ENSP00000264276:p.Asp1181Gly					ALS2_ENST00000457679.2_Missense_Mutation_p.D493G	p.D1181G	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			22	3914	-			1181					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.3542A>G	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.727007	0.89390	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.49720	0.77;0.77	5.32	5.32	0.75619	.	0.102114	0.64402	D	0.000003	T	0.65739	0.2720	L	0.61387	1.9	0.80722	D	1	D;P	0.89917	1.0;0.877	D;P	0.85130	0.997;0.627	T	0.66002	-0.6031	10	0.44086	T	0.13	.	15.2813	0.73787	0.0:0.0:0.0:1.0	.	1181;1181	Q6IQ41;Q96Q42	.;ALS2_HUMAN	G	1181;493	ENSP00000264276:D1181G;ENSP00000394823:D493G	ENSP00000264276:D1181G	D	-	2	0	ALS2	202296380	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.040000	0.89188	2.014000	0.59158	0.377000	0.23210	GAT		0.383	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		17	77	0	0	0	1	0	17	77				
TRAT1	50852	broad.mit.edu	37	3	108549583	108549583	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:108549583C>T	ENST00000295756.6	+	2	304	c.74C>T	c.(73-75)tCa>tTa	p.S25L	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	25					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTGGTTATATCACTGATCTTC	0.393																																						ENST00000295756.6																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						c.(73-75)tCa>tTa		T cell receptor associated transmembrane adaptor 1							184.0	180.0	182.0					3																	108549583		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108549583C>T	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.74C>T	3.37:g.108549583C>T	ENSP00000295756:p.Ser25Leu					TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	p.S25L	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN			2	304	+			25					Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.74C>T	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.757636	0.31137	.	.	ENSG00000163519	ENST00000295756	T	0.45668	0.89	5.26	4.39	0.52855	.	0.122893	0.37136	N	0.002225	T	0.43010	0.1228	M	0.69823	2.125	0.52501	D	0.999956	B	0.23540	0.087	B	0.27887	0.084	T	0.45352	-0.9267	10	0.72032	D	0.01	1.5729	9.4534	0.38741	0.0:0.9051:0.0:0.0949	.	25	Q6PIZ9	TRAT1_HUMAN	L	25	ENSP00000295756:S25L	ENSP00000295756:S25L	S	+	2	0	TRAT1	110032273	0.975000	0.34042	0.316000	0.25252	0.450000	0.32258	2.511000	0.45476	1.452000	0.47756	0.591000	0.81541	TCA		0.393	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		8	65	0	0	0	1	0	8	65				
ECE2	9718	broad.mit.edu	37	3	183975424	183975424	+	Silent	SNP	C	C	G			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:183975424C>G	ENST00000402825.3	+	2	360	c.360C>G	c.(358-360)ccC>ccG	p.P120P	ECE2_ENST00000324557.4_Silent_p.P120P|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	120	Methyltransferase-like region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGACTTCCCCAGTGCTTCTT	0.612																																						ENST00000402825.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49						c.(358-360)ccC>ccG		endothelin converting enzyme 2							68.0	65.0	66.0					3																	183975424		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:183975424C>G	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.360C>G	3.37:g.183975424C>G						EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Silent_p.P120P	p.P120P	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		2	360	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		120			Methyltransferase-like region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.360C>G	CCDS3256.2																																																																																				0.612	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		4	55	0	0	0	1	0	4	55				
LPHN2	23266	broad.mit.edu	37	1	82372826	82372826	+	Silent	SNP	G	G	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr1:82372826G>T	ENST00000370728.1	+	6	843	c.198G>T	c.(196-198)cgG>cgT	p.R66R	LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000335786.5_Silent_p.R66R|LPHN2_ENST00000370727.1_Silent_p.R66R|LPHN2_ENST00000394879.1_Silent_p.R66R|LPHN2_ENST00000370725.1_Silent_p.R66R|LPHN2_ENST00000370721.1_Silent_p.R66R|LPHN2_ENST00000370723.1_Silent_p.R66R|LPHN2_ENST00000370713.1_Silent_p.R66R|LPHN2_ENST00000271029.4_Silent_p.R66R|LPHN2_ENST00000370730.1_Silent_p.R66R|LPHN2_ENST00000319517.6_Silent_p.R66R|LPHN2_ENST00000370715.1_Silent_p.R66R|LPHN2_ENST00000370717.2_Silent_p.R66R|LPHN2_ENST00000359929.3_Silent_p.R66R			O95490	LPHN2_HUMAN	latrophilin 2	66	SUEL-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00260}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTATGGTCGGACGGATGACA	0.453																																						ENST00000370728.1																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(196-198)cgG>cgT		latrophilin 2							169.0	155.0	159.0					1																	82372826		2203	4300	6503	SO:0001819	synonymous_variant	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82372826G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.198G>T	1.37:g.82372826G>T						LPHN2_ENST00000370713.1_Silent_p.R66R|LPHN2_ENST00000271029.4_Silent_p.R66R|LPHN2_ENST00000370715.1_Silent_p.R66R|LPHN2_ENST00000394879.1_Silent_p.R66R|LPHN2_ENST00000370721.1_Silent_p.R66R|LPHN2_ENST00000370730.1_Silent_p.R66R|LPHN2_ENST00000319517.6_Silent_p.R66R|LPHN2_ENST00000359929.3_Silent_p.R66R|LPHN2_ENST00000335786.5_Silent_p.R66R|LPHN2_ENST00000370717.2_Silent_p.R66R|LPHN2_ENST00000370723.1_Silent_p.R66R|LPHN2_ENST00000370727.1_Silent_p.R66R|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370725.1_Silent_p.R66R	p.R66R			O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	6	843	+			66			SUEL-type lectin.		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Silent	SNP	ENST00000370728.1	37	c.198G>T																																																																																					0.453	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		6	94	1	0	0.217242	1	0.217242	6	94				
SLC35E1	79939	broad.mit.edu	37	19	16666183	16666183	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:16666183G>A	ENST00000595753.1	-	5	799	c.782C>T	c.(781-783)aCg>aTg	p.T261M	CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	261					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GAGCAGGAGCGTCCAGGGCCA	0.597																																						ENST00000595753.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						c.(781-783)aCg>aTg		solute carrier family 35, member E1							55.0	45.0	49.0					19																	16666183		2203	4300	6503	SO:0001583	missense	79939				transport	integral to membrane		g.chr19:16666183G>A	AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.782C>T	19.37:g.16666183G>A	ENSP00000470652:p.Thr261Met					CTD-3222D19.2_ENST00000409035.1_Intron	p.T261M	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN			5	799	-			261					Q8NBQ2|Q96JV7	Missense_Mutation	SNP	ENST00000595753.1	37	c.782C>T	CCDS12346.2	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471523	0.43942	.	.	ENSG00000127526	ENST00000409648;ENST00000421082	T	0.62788	-0.0	5.36	4.33	0.51752	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	L	0.50333	1.59	0.80722	D	1	P	0.48350	0.909	B	0.37047	0.24	T	0.54622	-0.8266	10	0.37606	T	0.19	-13.6731	13.4217	0.61001	0.0755:0.0:0.9245:0.0	.	261	Q96K37	S35E1_HUMAN	M	261;12	ENSP00000394092:T12M	ENSP00000387152:T261M	T	-	2	0	SLC35E1	16527183	1.000000	0.71417	0.922000	0.36590	0.826000	0.46750	7.380000	0.79704	1.276000	0.44395	0.655000	0.94253	ACG		0.597	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326809.2	NM_024881		4	50	0	0	0	1	0	4	50				
GMNN	51053	broad.mit.edu	37	6	24784759	24784759	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr6:24784759C>T	ENST00000230056.3	+	6	777	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	GMNN_ENST00000356509.3_Nonsense_Mutation_p.Q149*	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	149	Necessary and sufficient for interaction with IDAS and CDT1.				mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of DNA replication (GO:0008156)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)	p.Q149*(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						AGAACATGTACAGTATATGGC	0.328																																						ENST00000230056.3																			1	Substitution - Nonsense(1)	p.Q149*(1)	skin(1)	endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						c.(445-447)Cag>Tag		geminin, DNA replication inhibitor							84.0	96.0	92.0					6																	24784759		2203	4300	6503	SO:0001587	stop_gained	51053				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding	g.chr6:24784759C>T	AF067855	CCDS4560.1	6p21.32	2008-10-31			ENSG00000112312	ENSG00000112312			17493	protein-coding gene	gene with protein product		602842				9635433	Standard	NM_001251989		Approved	Gem	uc003nem.3	O75496	OTTHUMG00000014363	ENST00000230056.3:c.445C>T	6.37:g.24784759C>T	ENSP00000230056:p.Gln149*					GMNN_ENST00000356509.3_Nonsense_Mutation_p.Q149*	p.Q149*	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN			6	777	+			149			Necessary and sufficient for interaction with IDAS.		B3KMM8|Q9H1Z1	Nonsense_Mutation	SNP	ENST00000230056.3	37	c.445C>T	CCDS4560.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592503	0.97688	.	.	ENSG00000112312	ENST00000356509;ENST00000230056;ENST00000378054	.	.	.	5.95	5.95	0.96441	.	0.097855	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-1.1167	20.4024	0.99000	0.0:1.0:0.0:0.0	.	.	.	.	X	149	.	ENSP00000230056:Q149X	Q	+	1	0	GMNN	24892738	1.000000	0.71417	0.980000	0.43619	0.999000	0.98932	7.167000	0.77562	2.827000	0.97445	0.650000	0.86243	CAG		0.328	GMNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040021.2	NM_015895		16	34	0	0	0	1	0	16	34				
AFTPH	54812	broad.mit.edu	37	2	64778891	64778893	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr2:64778891_64778893delGAA	ENST00000422803.1	+	2	597_599	c.283_285delGAA	c.(283-285)gaadel	p.E95del	AFTPH_ENST00000238855.7_In_Frame_Del_p.E95del|AFTPH_ENST00000238856.4_In_Frame_Del_p.E95del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000409933.1_In_Frame_Del_p.E95del			Q6ULP2	AFTIN_HUMAN	aftiphilin	95					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CATCACTGCTGAACTTTCTGCTC	0.355																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(283-285)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778891_64778893delGAA	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.283_285delGAA	2.37:g.64778891_64778893delGAA	ENSP00000397726:p.Glu95del					AFTPH_ENST00000238856.4_In_Frame_Del_p.E95del|AFTPH_ENST00000409933.1_In_Frame_Del_p.E95del|AFTPH_ENST00000238855.7_In_Frame_Del_p.E95del	p.E95del			Q6ULP2	AFTIN_HUMAN			2	597_599	+			95					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.283_285delGAA																																																																																					0.355	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		9	50						9	50	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51376375	51376375	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr3:51376375delA	ENST00000266037.9	+	37	3705	c.3682delA	c.(3682-3684)aaafs	p.K1228fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1228	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GAATTTTTACAAATCTGAGAT	0.463																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(3682-3684)aafs		dedicator of cytokinesis 3							42.0	40.0	40.0					3																	51376375		1889	4129	6018	SO:0001589	frameshift_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51376375delA	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.3682delA	3.37:g.51376375delA	ENSP00000266037:p.Lys1228fs						p.K1228fs	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	37	3705	+			1228			DHR-2.		O15017	Frame_Shift_Del	DEL	ENST00000266037.9	37	c.3682delA	CCDS46835.1																																																																																				0.463	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		2	4						2	4	---	---	---	---
NFE2L3	9603	broad.mit.edu	37	7	26192147	26192148	+	In_Frame_Ins	INS	-	-	CGG			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr7:26192147_26192148insCGG	ENST00000056233.3	+	1	288_289	c.29_30insCGG	c.(28-33)gccggc>gcCGGcggc	p.13_14insG		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	13	Leu-rich.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGGTGGTCGGCCGGCGGCGGCC	0.757																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(28-30)ggg>gCGGgg		nuclear factor, erythroid 2-like 3																																				SO:0001652	inframe_insertion	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26192147_26192148insCGG	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.36_38dupCGG	7.37:g.26192154_26192156dupCGG	ENSP00000056233:p.Gly13_Gly13dup						p.10_11insA	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			1	288_289	+			10					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	In_Frame_Ins	INS	ENST00000056233.3	37	c.29_30insCGG	CCDS5396.1																																																																																				0.757	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			7	10						7	10	---	---	---	---
IL4R	3566	broad.mit.edu	37	16	27363939	27363942	+	Frame_Shift_Del	DEL	AGGG	AGGG	-			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr16:27363939_27363942delAGGG	ENST00000395762.2	+	7	851_854	c.592_595delAGGG	c.(592-597)agggcafs	p.RA198fs	IL4R_ENST00000170630.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000543915.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000449195.1_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000380922.3_Frame_Shift_Del_p.RA183fs	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	198	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATTTCCTACAGGGCACGGGTGAG	0.544																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(592-597)cafs		interleukin 4 receptor																																				SO:0001589	frameshift_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27363939_27363942delAGGG	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.592_595delAGGG	16.37:g.27363939_27363942delAGGG	ENSP00000379111:p.Arg198fs					IL4R_ENST00000449195.1_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000543915.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000170630.2_Frame_Shift_Del_p.RA198fs|IL4R_ENST00000380922.3_Frame_Shift_Del_p.RA183fs	p.RA198fs	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			7	851_854	+			198			Fibronectin type-III.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Frame_Shift_Del	DEL	ENST00000395762.2	37	c.592_595delAGGG	CCDS10629.1																																																																																				0.544	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			10	120						10	120	---	---	---	---
PAFAH1B3	5050	broad.mit.edu	37	19	42806160	42806160	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-A4C7-01A-11D-A25D-08	TCGA-CQ-A4C7-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a866f81-fa94-45e3-b14e-a2426986b9ef	e4ac2486-26df-47bb-8d6e-37ad20ce7731	g.chr19:42806160delT	ENST00000262890.3	-	2	371	c.110delA	c.(109-111)aagfs	p.K37fs	PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Frame_Shift_Del_p.K37fs|PRR19_ENST00000341747.3_5'Flank	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	37					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				TTCGGGTTCCTTATCTTTGCT	0.647																																						ENST00000538771.1																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(109-111)agfs		platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)							54.0	49.0	50.0					19																	42806160		2196	4290	6486	SO:0001589	frameshift_variant	5050				lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding	g.chr19:42806160delT	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 1 subunit"""	603074	"""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)"", ""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"""			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.110delA	19.37:g.42806160delT	ENSP00000262890:p.Lys37fs					PAFAH1B3_ENST00000262890.3_Frame_Shift_Del_p.K37fs	p.K37fs	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN			3	466	-		Prostate(69;0.0704)	37					Q53X88	Frame_Shift_Del	DEL	ENST00000262890.3	37	c.110delA	CCDS12602.1																																																																																				0.647	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463726.1	NM_002573		2	4						2	4	---	---	---	---
