#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
NUP205	23165	broad.mit.edu	37	7	135300708	135300708	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:135300708A>G	ENST00000285968.6	+	24	3381	c.3355A>G	c.(3355-3357)Act>Gct	p.T1119A		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1119					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCTTATGAAAACTGCCTCAAT	0.393																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(3355-3357)Act>Gct		nucleoporin 205kDa							121.0	109.0	113.0					7																	135300708		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135300708A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.3355A>G	7.37:g.135300708A>G	ENSP00000285968:p.Thr1119Ala						p.T1119A	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			24	3381	+			1119					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.3355A>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	A	17.15	3.317143	0.60524	.	.	ENSG00000155561	ENST00000285968	T	0.29655	1.56	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.28566	0.0707	L	0.41710	1.295	0.80722	D	1	B	0.30326	0.276	B	0.32393	0.145	T	0.05007	-1.0912	10	0.18710	T	0.47	-18.0923	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1119	Q92621	NU205_HUMAN	A	1119	ENSP00000285968:T1119A	ENSP00000285968:T1119A	T	+	1	0	NUP205	134951248	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ACT		0.393	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			17	45	0	0	0	1	0	17	45				
ZNF253	56242	broad.mit.edu	37	19	20002792	20002792	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:20002792C>T	ENST00000589717.1	+	4	828	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	AC011477.1_ENST00000578823.1_RNA|ZNF253_ENST00000355650.4_Missense_Mutation_p.H170Y|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	246				Missing (in Ref. 1; AAC26844). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTACTACACATAAGAAAAT	0.398																																						ENST00000589717.1																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(736-738)Cat>Tat		zinc finger protein 253							46.0	51.0	49.0					19																	20002792		2169	4282	6451	SO:0001583	missense	56242				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20002792C>T	AF038951	CCDS42532.1	19p12	2014-02-12	2003-12-17		ENSG00000256771	ENSG00000256771		"""Zinc fingers, C2H2-type"", ""-"""	13497	protein-coding gene	gene with protein product		606954	"""zinc finger protein 411"""	ZNF411		10585455	Standard	NM_021047		Approved	BMZF-1, FLJ90391	uc002noj.3	O75346	OTTHUMG00000182369	ENST00000589717.1:c.736C>T	19.37:g.20002792C>T	ENSP00000468720:p.His246Tyr					ZNF253_ENST00000355650.4_Missense_Mutation_p.H170Y	p.H246Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN			4	828	+			246	Missing (in Ref. 1; AAC26844).				A4FVA7|Q0P6G3|Q6P0L2|Q8NCA3|Q8NCF9	Missense_Mutation	SNP	ENST00000589717.1	37	c.736C>T	CCDS42532.1	.	.	.	.	.	.	.	.	.	.	c	14.56	2.571445	0.45798	.	.	ENSG00000256771	ENST00000355650	.	.	.	0.876	0.876	0.19138	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.82066	0.4956	H	0.96430	3.82	0.36239	D	0.853113	D	0.89917	1.0	D	0.87578	0.998	T	0.82934	-0.0211	7	.	.	.	.	7.1488	0.25597	0.0:1.0:0.0:0.0	.	246	O75346	ZN253_HUMAN	Y	246	.	.	H	+	1	0	ZNF253	19863792	0.996000	0.38824	0.035000	0.18076	0.035000	0.12851	5.226000	0.65299	0.293000	0.22520	0.298000	0.19748	CAT		0.398	ZNF253-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460802.1	NM_021047		9	83	0	0	0	1	0	9	83				
GTF3C1	2975	broad.mit.edu	37	16	27481507	27481507	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:27481507A>G	ENST00000356183.4	-	31	4751	c.4736T>C	c.(4735-4737)cTc>cCc	p.L1579P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1579P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1579					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACAGAAATGAGGCCCAGAGA	0.542																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(4735-4737)cTc>cCc		general transcription factor IIIC, polypeptide 1, alpha 220kDa							137.0	127.0	130.0					16																	27481507		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27481507A>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.4736T>C	16.37:g.27481507A>G	ENSP00000348510:p.Leu1579Pro					GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1579P	p.L1579P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN			31	4751	-			1579					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.4736T>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.683922	0.47991	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.27890	1.64	5.57	5.57	0.84162	.	0.067735	0.64402	D	0.000013	T	0.55955	0.1953	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	T	0.56481	-0.7972	10	0.42905	T	0.14	-19.5898	15.4082	0.74897	1.0:0.0:0.0:0.0	.	1579;1579	Q12789;Q12789-3	TF3C1_HUMAN;.	P	1579;1575	ENSP00000348510:L1579P	ENSP00000348510:L1579P	L	-	2	0	GTF3C1	27389008	1.000000	0.71417	0.911000	0.35937	0.103000	0.19146	6.491000	0.73649	2.116000	0.64780	0.482000	0.46254	CTC		0.542	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		5	219	0	0	0	1	0	5	219				
ZFP37	7539	broad.mit.edu	37	9	115805634	115805634	+	Missense_Mutation	SNP	C	C	T	rs200826735		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr9:115805634C>T	ENST00000374227.3	-	4	1291	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ZFP37_ENST00000553380.1_Missense_Mutation_p.E437K|ZFP37_ENST00000555206.1_Missense_Mutation_p.E423K	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCACATGTTCGGTAAGAGAT	0.378																																						ENST00000374227.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1264-1266)Gaa>Aaa		ZFP37 zinc finger protein							125.0	119.0	121.0					9																	115805634		2203	4300	6503	SO:0001583	missense	7539					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:115805634C>T	AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.1264G>A	9.37:g.115805634C>T	ENSP00000363344:p.Glu422Lys					ZFP37_ENST00000555206.1_Missense_Mutation_p.E423K|ZFP37_ENST00000553380.1_Missense_Mutation_p.E437K	p.E422K			Q9Y6Q3	ZFP37_HUMAN			4	1291	-			422					A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	c.1264G>A	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	6.276	0.419001	0.11870	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.08193	3.12;3.12;3.12	4.02	4.02	0.46733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000359	T	0.02970	0.0088	N	0.02775	-0.495	0.24134	N	0.995753	D;D;P	0.61697	0.974;0.99;0.953	B;B;B	0.43082	0.317;0.407;0.319	T	0.39643	-0.9604	10	0.06365	T	0.9	-23.0622	9.3676	0.38234	0.2129:0.7871:0.0:0.0	.	423;437;422	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	K	422;423;437	ENSP00000363344:E422K;ENSP00000451310:E423K;ENSP00000452552:E437K	ENSP00000363344:E422K	E	-	1	0	ZFP37	114845455	0.000000	0.05858	0.993000	0.49108	0.986000	0.74619	-0.774000	0.04684	2.528000	0.85240	0.655000	0.94253	GAA		0.378	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408		18	79	0	0	0	1	0	18	79				
NLRP4	147945	broad.mit.edu	37	19	56379186	56379186	+	Silent	SNP	C	C	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:56379186C>T	ENST00000301295.6	+	6	2720	c.2298C>T	c.(2296-2298)ggC>ggT	p.G766G	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Silent_p.G691G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	766					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.G766G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAGACACAGGCGTGCCCCTTT	0.542																																						ENST00000301295.6																			1	Substitution - coding silent(1)	p.G766G(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2296-2298)ggC>ggT		NLR family, pyrin domain containing 4							172.0	141.0	151.0					19																	56379186		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56379186C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2298C>T	19.37:g.56379186C>T						NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Silent_p.G691G	p.G766G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	6	2720	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	766					Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2298C>T	CCDS12936.1																																																																																				0.542	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		5	102	0	0	0	1	0	5	102				
METRN	79006	broad.mit.edu	37	16	767073	767073	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:767073A>G	ENST00000568223.2	+	4	743	c.568A>G	c.(568-570)Att>Gtt	p.I190V	METRN_ENST00000568415.1_Missense_Mutation_p.I57V	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	190					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				CCCCACAGTAATTCACGGGAT	0.642																																						ENST00000568223.2																			0				skin(1)	1						c.(568-570)Att>Gtt		meteorin, glial cell differentiation regulator							38.0	45.0	42.0					16																	767073		2198	4294	6492	SO:0001583	missense	79006							g.chr16:767073A>G	BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"""chromosome 16 open reading frame 23"""	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.568A>G	16.37:g.767073A>G	ENSP00000455068:p.Ile190Val					METRN_ENST00000568415.1_Missense_Mutation_p.I57V	p.I190V	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN			4	743	+		Hepatocellular(780;0.00335)	190					Q9UJH9	Missense_Mutation	SNP	ENST00000568223.2	37	c.568A>G	CCDS10422.1	.	.	.	.	.	.	.	.	.	.	A	1.793	-0.479106	0.04383	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.47	0.679	0.17975	.	0.146689	0.44483	D	0.000441	T	0.20007	0.0481	N	0.05031	-0.125	0.44168	D	0.996977	B	0.02656	0.0	B	0.06405	0.002	T	0.23940	-1.0174	9	0.02654	T	1	-6.9633	4.3557	0.11178	0.58:0.1707:0.2493:0.0	.	190	Q9UJH8	METRN_HUMAN	V	190	.	ENSP00000219542:I190V	I	+	1	0	METRN	707074	0.885000	0.30320	0.059000	0.19551	0.021000	0.10359	1.333000	0.33816	0.666000	0.31087	0.456000	0.33151	ATT		0.642	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109074.4	NM_024042		19	31	0	0	0	1	0	19	31				
ARAP1	116985	broad.mit.edu	37	11	72403811	72403811	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr11:72403811C>T	ENST00000393609.3	-	30	4176	c.3974G>A	c.(3973-3975)gGg>gAg	p.G1325E	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000334211.8_Missense_Mutation_p.G1080E|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000393605.3_Missense_Mutation_p.G1085E|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000359373.5_Intron	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1325	PH 4. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTCAGGGGCCCCGCTCCACGG	0.612																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000393609.3																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(3973-3975)gGg>gAg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							51.0	50.0	51.0					11																	72403811		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72403811C>T	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3974G>A	11.37:g.72403811C>T	ENSP00000377233:p.Gly1325Glu					ARAP1_ENST00000393605.3_Missense_Mutation_p.G1085E|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000334211.8_Missense_Mutation_p.G1080E|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000426523.1_Intron	p.G1325E	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN			30	4176	-			1325			PH 4.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.3974G>A	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168864	0.78339	.	.	ENSG00000186635	ENST00000393605;ENST00000334211;ENST00000393609	T;T;T	0.06933	3.28;3.33;3.24	5.73	4.82	0.62117	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.950475	0.08542	U	0.930383	T	0.09024	0.0223	N	0.08118	0	0.80722	D	1	D;D	0.59357	0.985;0.985	P;P	0.61070	0.883;0.833	T	0.15009	-1.0452	10	0.02654	T	1	.	9.6684	0.39998	0.0:0.908:0.0:0.092	.	1325;1085	Q96P48;Q96P48-1	ARAP1_HUMAN;.	E	1085;1080;1325	ENSP00000377230:G1085E;ENSP00000335506:G1080E;ENSP00000377233:G1325E	ENSP00000335506:G1080E	G	-	2	0	ARAP1	72081459	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.389000	0.34453	2.704000	0.92352	0.549000	0.68633	GGG		0.612	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		18	44	0	0	0	1	0	18	44				
RBBP6	5930	broad.mit.edu	37	16	24567694	24567694	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:24567694G>C	ENST00000319715.4	+	7	1032	c.600G>C	c.(598-600)atG>atC	p.M200I	RBBP6_ENST00000348022.2_Missense_Mutation_p.M200I|RBBP6_ENST00000381039.3_Missense_Mutation_p.M200I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	200					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTTCATGATGGAAGTGAAAG	0.378																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(598-600)atG>atC		retinoblastoma binding protein 6							100.0	93.0	95.0					16																	24567694		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24567694G>C		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.600G>C	16.37:g.24567694G>C	ENSP00000317872:p.Met200Ile					RBBP6_ENST00000381039.3_Missense_Mutation_p.M200I|RBBP6_ENST00000348022.2_Missense_Mutation_p.M200I	p.M200I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	7	1032	+			200					Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.600G>C	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.797406	0.50208	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17054	2.3;2.54;2.56	5.68	5.68	0.88126	.	0.050052	0.85682	D	0.000000	T	0.12987	0.0315	N	0.19112	0.55	0.39901	D	0.973896	B;B;B	0.33288	0.406;0.27;0.176	B;B;B	0.32022	0.139;0.054;0.025	T	0.08785	-1.0705	10	0.44086	T	0.13	-17.0301	15.6193	0.76793	0.0:0.1368:0.8631:0.0	.	200;200;200	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	I	200	ENSP00000370427:M200I;ENSP00000317872:M200I;ENSP00000316291:M200I	ENSP00000317872:M200I	M	+	3	0	RBBP6	24475195	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.170000	0.50816	2.838000	0.97847	0.591000	0.81541	ATG		0.378	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		14	66	0	0	0	1	0	14	66				
HELZ	9931	broad.mit.edu	37	17	65174992	65174992	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr17:65174992G>A	ENST00000358691.5	-	13	1379	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	HELZ_ENST00000580168.1_Missense_Mutation_p.R405C	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	405						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAATCCCAACGTTTAGCTGTG	0.348																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1213-1215)Cgt>Tgt		helicase with zinc finger							102.0	100.0	100.0					17																	65174992		1833	4086	5919	SO:0001583	missense	9931							g.chr17:65174992G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1213C>T	17.37:g.65174992G>A	ENSP00000351524:p.Arg405Cys					HELZ_ENST00000580168.1_Missense_Mutation_p.R405C	p.R405C	NM_014877.3	NP_055692.2					13	1379	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1213C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174026	0.57692	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.86030	-2.06;1.1	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.90273	0.6958	L	0.44542	1.39	0.80722	D	1	D;P	0.89917	1.0;0.953	D;P	0.73380	0.98;0.475	D	0.89300	0.3625	10	0.52906	T	0.07	-16.4745	20.6525	0.99598	0.0:0.0:1.0:0.0	.	405;405	B7ZLW2;P42694	.;HELZ_HUMAN	C	405	ENSP00000351524:R405C;ENSP00000411144:R405C	ENSP00000351524:R405C	R	-	1	0	HELZ	62605454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.342000	0.97044	2.890000	0.99128	0.585000	0.79938	CGT		0.348	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		13	92	0	0	0	1	0	13	92				
NRXN3	9369	broad.mit.edu	37	14	79434627	79434627	+	Missense_Mutation	SNP	G	G	A	rs368490229		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr14:79434627G>A	ENST00000554719.1	+	11	2452	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTGAATGGACGCCTGCCAGAC	0.522																																						ENST00000554719.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(1960-1962)cGc>cAc		neurexin 3		G	HIS/ARG	0,4406		0,0,2203	135.0	115.0	121.0		1961	6.0	1.0	14		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRXN3	NM_004796.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	654/1062	79434627	1,13005	2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79434627G>A	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.1961G>A	14.37:g.79434627G>A	ENSP00000451648:p.Arg654His					NRXN3_ENST00000335750.5_Missense_Mutation_p.R654H	p.R654H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	11	2452	+		Renal(4;0.00876)	260					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000554719.1	37	c.1961G>A	CCDS9870.1	.	.	.	.	.	.	.	.	.	.	G	36	5.841621	0.97016	0.0	1.16E-4	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750	T;T	0.76709	-1.04;-1.04	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.87578	0.998;0.908	D	0.87571	0.2478	8	.	.	.	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	1027;654	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	H	1027;1016;654;654	ENSP00000451648:R654H;ENSP00000338349:R654H	.	R	+	2	0	NRXN3	78504380	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.854000	0.98071	0.655000	0.94253	CGC		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413787.1	NM_001105250		20	65	0	0	0	1	0	20	65				
SDCBP	6386	broad.mit.edu	37	8	59490716	59490716	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr8:59490716A>T	ENST00000260130.4	+	6	677	c.527A>T	c.(526-528)aAg>aTg	p.K176M	SDCBP_ENST00000422546.2_Missense_Mutation_p.K175M|SDCBP_ENST00000424270.2_Missense_Mutation_p.K170M|SDCBP_ENST00000413219.2_Missense_Mutation_p.K176M|SDCBP_ENST00000523483.1_Missense_Mutation_p.K196M|SDCBP_ENST00000520168.1_Missense_Mutation_p.K117M|SDCBP_ENST00000447267.2_Missense_Mutation_p.K122M|SDCBP_ENST00000447182.2_Missense_Mutation_p.K175M	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	176	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAAGCGCACAAGGTGCTCAAA	0.428																																						ENST00000523483.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(586-588)aAg>aTg		syndecan binding protein (syntenin)							102.0	89.0	93.0					8																	59490716		2203	4300	6503	SO:0001583	missense	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59490716A>T	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.527A>T	8.37:g.59490716A>T	ENSP00000260130:p.Lys176Met					SDCBP_ENST00000520168.1_Missense_Mutation_p.K117M|SDCBP_ENST00000424270.2_Missense_Mutation_p.K170M|SDCBP_ENST00000447182.2_Missense_Mutation_p.K175M|SDCBP_ENST00000447267.2_Missense_Mutation_p.K122M|SDCBP_ENST00000413219.2_Missense_Mutation_p.K176M|SDCBP_ENST00000260130.4_Missense_Mutation_p.K176M|SDCBP_ENST00000422546.2_Missense_Mutation_p.K175M	p.K196M			O00560	SDCB1_HUMAN			7	2101	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	176					B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	c.587A>T	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.882005	0.91740	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.41758	1.62;1.62;1.62;1.62;1.62;0.99;1.62;1.62	5.77	5.77	0.91146	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.68384	0.2995	M	0.84585	2.705	0.80722	D	1	D;D;D;D	0.71674	0.994;0.993;0.998;0.998	D;D;D;D	0.72338	0.929;0.933;0.951;0.977	T	0.72371	-0.4314	9	.	.	.	-19.1785	16.3948	0.83586	1.0:0.0:0.0:0.0	.	117;196;170;176	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	M	176;175;175;176;170;196;117;122	ENSP00000260130:K176M;ENSP00000391687:K175M;ENSP00000409288:K175M;ENSP00000411771:K176M;ENSP00000395351:K170M;ENSP00000428184:K196M;ENSP00000430730:K117M;ENSP00000397820:K122M	.	K	+	2	0	SDCBP	59653270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.326000	0.78906	0.533000	0.62120	AAG		0.428	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	NM_005625		19	64	0	0	0	1	0	19	64				
AQR	9716	broad.mit.edu	37	15	35210531	35210531	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:35210531T>C	ENST00000156471.5	-	15	1495	c.1270A>G	c.(1270-1272)Atg>Gtg	p.M424V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	424					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACAAAGGCATCTGGTTCAAC	0.368																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1270-1272)Atg>Gtg		aquarius intron-binding spliceosomal factor							104.0	95.0	98.0					15																	35210531		1836	4079	5915	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35210531T>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1270A>G	15.37:g.35210531T>C	ENSP00000156471:p.Met424Val						p.M424V	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	15	1495	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	424					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1270A>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	T	17.57	3.422614	0.62622	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93366	-3.21	4.74	4.74	0.60224	.	0.072986	0.85682	D	0.000000	D	0.92437	0.7599	M	0.75777	2.31	0.52099	D	0.999947	B	0.26400	0.148	B	0.26416	0.069	D	0.91161	0.4961	10	0.46703	T	0.11	-20.2217	14.411	0.67115	0.0:0.0:0.0:1.0	.	424	O60306	AQR_HUMAN	V	424	ENSP00000156471:M424V	ENSP00000156471:M424V	M	-	1	0	AQR	32997823	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.747000	0.85070	2.002000	0.58637	0.402000	0.26972	ATG		0.368	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		11	49	0	0	0	1	0	11	49				
ZNF595	152687	broad.mit.edu	37	4	59355	59355	+	Missense_Mutation	SNP	A	A	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:59355A>T	ENST00000509152.2	+	2	221	c.36A>T	c.(34-36)gaA>gaT	p.E12D	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E12D			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	12	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)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGCCATAGAATTCTCCCCTG	0.428																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(34-36)gaA>gaT		zinc finger protein 595							359.0	389.0	379.0					4																	59355		2203	4300	6503	SO:0001583	missense	152687							g.chr4:59355A>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.36A>T	4.37:g.59355A>T	ENSP00000434858:p.Glu12Asp					ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E12D	p.E12D						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	221	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.36A>T		.	.	.	.	.	.	.	.	.	.	A	11.88	1.771346	0.31320	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.01438	4.89;4.89	1.26	-0.566	0.11767	Krueppel-associated box (8);	.	.	.	.	T	0.03827	0.0108	.	.	.	0.19575	N	0.999967	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.987	T	0.46190	-0.9209	8	0.39692	T	0.17	.	1.8405	0.03149	0.399:0.3014:0.0:0.2996	.	12;12	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	D	12	ENSP00000434858:E12D;ENSP00000437878:E12D	ENSP00000434858:E12D	E	+	3	2	ZNF595	49355	0.015000	0.18098	0.697000	0.30258	0.296000	0.27459	-1.612000	0.02061	0.549000	0.28973	0.397000	0.26171	GAA		0.428	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		13	516	0	0	0	1	0	13	516				
FAM129B	64855	broad.mit.edu	37	9	130286023	130286023	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr9:130286023A>G	ENST00000373312.3	-	5	737	c.524T>C	c.(523-525)aTg>aCg	p.M175T	FAM129B_ENST00000373314.3_Missense_Mutation_p.M162T|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	175	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTTCTGTCATCATGCAGAA	0.607											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(523-525)aTg>aCg		family with sequence similarity 129, member B							113.0	94.0	100.0					9																	130286023		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130286023A>G	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.524T>C	9.37:g.130286023A>G	ENSP00000362409:p.Met175Thr		OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1579	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.M162T	p.M175T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			5	737	-			175			PH.		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.524T>C	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403375	0.25291	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.16196	2.36;2.36	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.257141	0.42294	D	0.000735	T	0.14527	0.0351	L	0.45581	1.43	0.40977	D	0.984748	B;B	0.21452	0.056;0.056	B;B	0.27715	0.082;0.082	T	0.10683	-1.0619	10	0.14252	T	0.57	-51.6426	7.7945	0.29140	0.9075:0.0:0.0925:0.0	.	162;175	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	T	162;175	ENSP00000362411:M162T;ENSP00000362409:M175T	ENSP00000362409:M175T	M	-	2	0	FAM129B	129325844	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.557000	0.45871	1.983000	0.57843	0.459000	0.35465	ATG		0.607	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		26	80	0	0	0	1	0	26	80				
GRM8	2918	broad.mit.edu	37	7	126173392	126173392	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:126173392T>C	ENST00000339582.2	-	9	2852	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.K682E|GRM8_ENST00000358373.3_Missense_Mutation_p.K682E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	682					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTGACAGATTTCTTCCCCTGC	0.507										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2044-2046)Aaa>Gaa		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						93.0	83.0	87.0					7																	126173392		2203	4300	6503	SO:0001583	missense	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173392T>C		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2044A>G	7.37:g.126173392T>C	ENSP00000344173:p.Lys682Glu	HNSCC(24;0.065)				GRM8_ENST00000444921.2_Missense_Mutation_p.K682E|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.K682E	p.K682E			O00222	GRM8_HUMAN			9	2852	-		Prostate(267;0.186)	682					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.2044A>G	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.441982	0.43326	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88354	-2.37;-2.37;-2.37	5.82	5.82	0.92795	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.89508	0.6735	L	0.58810	1.83	0.80722	D	1	D;P	0.53151	0.958;0.741	P;B	0.48982	0.597;0.41	D	0.88311	0.2956	10	0.32370	T	0.25	.	15.3625	0.74492	0.0:0.0:0.0:1.0	.	682;682	O00222-2;O00222	.;GRM8_HUMAN	E	682	ENSP00000344173:K682E;ENSP00000409790:K682E;ENSP00000351142:K682E	ENSP00000344173:K682E	K	-	1	0	GRM8	125960628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.194000	0.42668	2.234000	0.73211	0.533000	0.62120	AAA		0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			7	91	0	0	0	1	0	7	91				
CDH2	1000	broad.mit.edu	37	18	25565628	25565628	+	Silent	SNP	G	G	A			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr18:25565628G>A	ENST00000269141.3	-	12	2262	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	CDH2_ENST00000399380.3_Silent_p.C582C	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	613	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGAGTTTCGCAAGTCTCTG	0.408																																						ENST00000269141.3																			0				NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(1837-1839)tgC>tgT		cadherin 2, type 1, N-cadherin (neuronal)							100.0	101.0	101.0					18																	25565628		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25565628G>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1839C>T	18.37:g.25565628G>A						CDH2_ENST00000399380.3_Silent_p.C582C	p.C613C	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN			12	2262	-			613			Cadherin 5.		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.1839C>T	CCDS11891.1																																																																																				0.408	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		4	62	0	0	0	1	0	4	62				
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C	rs587782082		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr17:7577536T>C	ENST00000269305.4	-	7	934	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000420246.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000574684.1_5'Flank	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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; 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.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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)	AGGATGGGCCTCCGGTTCATG	0.567		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"""		95	Substitution - Missense(67)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(1)	lung(22)|upper_aerodigestive_tract(10)|urinary_tract(9)|large_intestine(7)|breast(7)|central_nervous_system(5)|biliary_tract(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|endometrium(3)|ovary(3)|soft_tissue(2)|skin(2)|peritoneum(1)|small_intestine(1)|pancreas(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.(745-747)Agg>Ggg	Other conserved DNA damage response genes	tumor protein p53							153.0	113.0	126.0					17																	7577536		2203	4300	6503	SO:0001583	missense	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.chr17:7577536T>C	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.745A>G	17.37:g.7577536T>C	ENSP00000269305:p.Arg249Gly	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_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000269305.4_Missense_Mutation_p.R249G	p.R249G	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)	7	877	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.745A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496716	0.64186	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	4.62	-0.0234	0.13943	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	M	0.92367	3.3	0.48185	D	0.9996	D;D;D;D;D	0.89917	0.998;1.0;0.998;0.995;0.999	D;D;D;D;D	0.81914	0.976;0.995;0.99;0.967;0.988	D	0.97987	1.0352	10	0.87932	D	0	-3.0658	12.7443	0.57273	0.0:0.0:0.4175:0.5825	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	G	249;249;249;249;249;249;238;117	ENSP00000410739:R249G;ENSP00000352610:R249G;ENSP00000269305:R249G;ENSP00000398846:R249G;ENSP00000391127:R249G;ENSP00000391478:R249G;ENSP00000425104:R117G	ENSP00000269305:R249G	R	-	1	2	TP53	7518261	0.009000	0.17119	0.995000	0.50966	0.814000	0.46013	0.039000	0.13884	-0.029000	0.13827	-0.648000	0.03929	AGG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		16	54	0	0	0	1	0	16	54				
HK3	3101	broad.mit.edu	37	5	176308519	176308519	+	Missense_Mutation	SNP	C	C	T	rs201695375	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr5:176308519C>T	ENST00000292432.5	-	18	2502	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	804	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGGACCTGCCGCAGGGCCAG	0.637													C|||	2	0.000399361	0.0	0.0	5008	,	,		17558	0.001		0.0	False		,,,				2504	0.001					ENST00000292432.5																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(2410-2412)cGg>cAg		hexokinase 3 (white cell)							17.0	21.0	19.0					5																	176308519		2202	4297	6499	SO:0001583	missense	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176308519C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2411G>A	5.37:g.176308519C>T	ENSP00000292432:p.Arg804Gln						p.R804Q	NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		18	2502	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	804			Catalytic.		Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	c.2411G>A	CCDS4407.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.842	0.942389	0.18281	.	.	ENSG00000160883	ENST00000292432	D	0.96365	-3.99	5.35	4.47	0.54385	Hexokinase, C-terminal (1);	0.000000	0.50627	D	0.000107	D	0.90789	0.7108	L	0.33485	1.01	0.34173	D	0.670049	B	0.21520	0.057	B	0.15484	0.013	D	0.86356	0.1714	10	0.13108	T	0.6	.	7.7173	0.28712	0.1641:0.752:0.0:0.0838	.	804	P52790	HXK3_HUMAN	Q	804	ENSP00000292432:R804Q	ENSP00000292432:R804Q	R	-	2	0	HK3	176241125	0.788000	0.28762	1.000000	0.80357	0.995000	0.86356	0.430000	0.21428	2.667000	0.90743	0.561000	0.74099	CGG		0.637	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			5	37	0	0	0	1	0	5	37				
PRDM8	56978	broad.mit.edu	37	4	81123567	81123567	+	Silent	SNP	G	G	A			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:81123567G>A	ENST00000504452.1	+	8	1790	c.951G>A	c.(949-951)ccG>ccA	p.P317P	PRDM8_ENST00000339711.4_Silent_p.P317P|PRDM8_ENST00000415738.2_Silent_p.P317P			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	317	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GGAAATTCCCGGAGGAGGCGG	0.741																																						ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(949-951)ccG>ccA		PR domain containing 8							2.0	3.0	3.0					4																	81123567		1242	3005	4247	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123567G>A	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.951G>A	4.37:g.81123567G>A						PRDM8_ENST00000415738.2_Silent_p.P317P|PRDM8_ENST00000504452.1_Silent_p.P317P	p.P317P	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2182	+			317			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.951G>A	CCDS43243.1																																																																																				0.741	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			3	11	0	0	0	1	0	3	11				
ATP2A1	487	broad.mit.edu	37	16	28900188	28900188	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:28900188C>T	ENST00000357084.3	+	9	1276	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	ATP2A1_ENST00000536376.1_Missense_Mutation_p.P212S|ATP2A1_ENST00000395503.4_Missense_Mutation_p.P337S	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	337					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AAGAAGCTTGCCCTCCGTAGA	0.587																																						ENST00000395503.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						c.(1009-1011)Ccc>Tcc		ATPase, Ca++ transporting, cardiac muscle, fast twitch 1							204.0	176.0	186.0					16																	28900188		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28900188C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1009C>T	16.37:g.28900188C>T	ENSP00000349595:p.Pro337Ser					ATP2A1_ENST00000357084.3_Missense_Mutation_p.P337S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.P212S	p.P337S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN			9	1193	+			337					A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1009C>T	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125458	0.94429	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.88354	-2.37;-2.37;-2.27	5.55	5.55	0.83447	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92234	0.7537	L	0.42581	1.335	0.80722	D	1	D;P;P	0.71674	0.998;0.814;0.906	D;P;P	0.68621	0.959;0.583;0.567	D	0.92796	0.6252	10	0.72032	D	0.01	.	18.2637	0.90044	0.0:1.0:0.0:0.0	.	212;337;337	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	S	337;337;374;212	ENSP00000349595:P337S;ENSP00000378879:P337S;ENSP00000443101:P212S	ENSP00000349595:P337S	P	+	1	0	ATP2A1	28807689	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	7.794000	0.85869	2.603000	0.88011	0.563000	0.77884	CCC		0.587	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		5	302	0	0	0	1	0	5	302				
ZNF827	152485	broad.mit.edu	37	4	146823320	146823320	+	Nonsense_Mutation	SNP	G	G	C			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:146823320G>C	ENST00000508784.1	-	2	1318	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	ZNF827_ENST00000379448.4_Nonsense_Mutation_p.S364*|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	364					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGCCATACCTGAATTGGAGGG	0.448																																						ENST00000508784.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1090-1092)tCa>tGa		zinc finger protein 827							62.0	64.0	63.0					4																	146823320		2203	4300	6503	SO:0001587	stop_gained	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146823320G>C	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1091C>G	4.37:g.146823320G>C	ENSP00000421863:p.Ser364*					ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.S364*	p.S364*			Q17R98	ZN827_HUMAN			2	1318	-	all_hematologic(180;0.151)		364					B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37	c.1091C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.447705	0.98289	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	.	.	.	5.17	5.17	0.71159	.	0.323582	0.33144	N	0.005238	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-17.5947	13.6073	0.62054	0.0:0.0:0.8448:0.1552	.	.	.	.	X	364;364;363	.	ENSP00000281318:S363X	S	-	2	0	ZNF827	147042770	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.880000	0.63107	2.424000	0.82194	0.555000	0.69702	TCA		0.448	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835		5	39	0	0	0	1	0	5	39				
CCDC18	343099	broad.mit.edu	37	1	93646352	93646352	+	Intron	SNP	C	C	G			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:93646352C>G	ENST00000343253.7	+	1	500				TMED5_ENST00000370282.3_5'Flank|TMED5_ENST00000479918.1_5'Flank|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.R89G|TMED5_ENST00000370280.1_5'Flank			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18											breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CGCAGGGGCCCGGGAAAGGGT	0.672																																						ENST00000557479.1																			0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(265-267)Cgg>Ggg		coiled-coil domain containing 18							24.0	32.0	30.0					1																	93646352		1962	4149	6111	SO:0001627	intron_variant	343099							g.chr1:93646352C>G			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.-3+377C>G	1.37:g.93646352C>G						CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron	p.R89G	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	1	433	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	0					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.265C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.00|14.00	2.406204|2.406204	0.42715|0.42715	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000448243|ENST00000557479	.|.	.|.	.|.	4.92|4.92	-7.24|-7.24	0.01475|0.01475	.|.	.|.	.|.	.|.	.|.	T|T	0.08447|0.08447	0.0210|0.0210	.|.	.|.	.|.	0.21355|0.21355	N|N	0.999718|0.999718	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.28586|0.28586	-1.0039|-1.0039	4|7	.|0.27785	.|T	.|0.31	.|.	9.0994|9.0994	0.36658|0.36658	0.0:0.1424:0.5171:0.3404|0.0:0.1424:0.5171:0.3404	.|.	.|89	.|G3V388	.|.	R|G	27|89	.|.	.|ENSP00000383808:R89G	P|R	+|+	2|1	0|2	CCDC18|CCDC18	93418940|93418940	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.807000|-0.807000	0.04520|0.04520	-1.422000|-1.422000	0.02004|0.02004	-2.141000|-2.141000	0.00338|0.00338	CCG|CGG		0.672	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		15	57	0	0	0	1	0	15	57				
ADCY10	55811	broad.mit.edu	37	1	167823646	167823646	+	Silent	SNP	A	A	C			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:167823646A>C	ENST00000367851.4	-	18	2437	c.2253T>G	c.(2251-2253)gtT>gtG	p.V751V	ADCY10_ENST00000367848.1_Silent_p.V659V|ADCY10_ENST00000545172.1_Silent_p.V598V	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	751					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTGTTGGAAAACGAGTACCT	0.443																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1975-1977)gtT>gtG		adenylate cyclase 10 (soluble)							165.0	154.0	158.0					1																	167823646		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167823646A>C	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2253T>G	1.37:g.167823646A>C						ADCY10_ENST00000545172.1_Silent_p.V598V|ADCY10_ENST00000367851.4_Silent_p.V751V	p.V659V			Q96PN6	ADCYA_HUMAN			18	2474	-			751					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.1977T>G	CCDS1265.1																																																																																				0.443	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		22	96	0	0	0	1	0	22	96				
ZC3H18	124245	broad.mit.edu	37	16	88688651	88688651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:88688651C>T	ENST00000301011.5	+	9	1722	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.Q532*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	508						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CACGGGGCCGCAGGTGAAGAG	0.602																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1522-1524)Cag>Tag		zinc finger CCCH-type containing 18							51.0	53.0	52.0					16																	88688651		2198	4300	6498	SO:0001587	stop_gained	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688651C>T	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1522C>T	16.37:g.88688651C>T	ENSP00000301011:p.Gln508*					ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.Q532*	p.Q508*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1722	+			508					Q96DG4|Q96MP7	Nonsense_Mutation	SNP	ENST00000301011.5	37	c.1522C>T	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	C	37	6.555420	0.97658	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.64	5.64	0.86602	.	0.130023	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-37.6005	19.3118	0.94189	0.0:1.0:0.0:0.0	.	.	.	.	X	508;476;532	.	ENSP00000289509:Q476X	Q	+	1	0	ZC3H18	87216152	0.998000	0.40836	0.964000	0.40570	0.415000	0.31203	4.911000	0.63328	2.667000	0.90743	0.655000	0.94253	CAG		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		5	28	0	0	0	1	0	5	28				
FBXL6	26233	broad.mit.edu	37	8	145579796	145579796	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr8:145579796G>T	ENST00000331890.5	-	8	1368	c.1304C>A	c.(1303-1305)aCc>aAc	p.T435N	TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.T429N|SLC52A2_ENST00000530047.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_Intron|SLC52A2_ENST00000540505.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	435					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCACTTCTGGGTCAAAAAGGG	0.582																																						ENST00000331890.5																			0				endometrium(1)|lung(3)|ovary(1)	5						c.(1303-1305)aCc>aAc		F-box and leucine-rich repeat protein 6							69.0	75.0	73.0					8																	145579796		2203	4299	6502	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579796G>T	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1304C>A	8.37:g.145579796G>T	ENSP00000330098:p.Thr435Asn					FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.T429N	p.T435N	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1368	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		435					Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1304C>A	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472325	0.84533	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.26957	1.74;1.7	5.13	5.13	0.70059	.	0.066042	0.64402	D	0.000017	T	0.52224	0.1721	M	0.80508	2.5	0.42132	D	0.991471	D;D	0.89917	1.0;1.0	D;D	0.74674	0.963;0.984	T	0.57608	-0.7782	10	0.62326	D	0.03	-8.3486	14.0679	0.64841	0.0:0.0:1.0:0.0	.	435;429	Q8N531;Q8N531-2	FBXL6_HUMAN;.	N	429;435	ENSP00000403873:T429N;ENSP00000330098:T435N	ENSP00000330098:T435N	T	-	2	0	FBXL6	145550604	0.998000	0.40836	0.986000	0.45419	0.798000	0.45092	3.210000	0.51129	2.361000	0.80049	0.563000	0.77884	ACC		0.582	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1	NM_024555		4	134	1	0	0.00909568	1	0.00929341	4	134				
LPHN3	23284	broad.mit.edu	37	4	62758468	62758468	+	Silent	SNP	G	G	A	rs145773574	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:62758468G>A	ENST00000514591.1	+	9	1700	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	LPHN3_ENST00000512091.2_Silent_p.P457P|LPHN3_ENST00000508693.1_Silent_p.P525P|LPHN3_ENST00000511324.1_Silent_p.P525P|LPHN3_ENST00000514996.1_Silent_p.P457P|LPHN3_ENST00000545650.1_Silent_p.P457P|LPHN3_ENST00000506700.1_Silent_p.P457P|LPHN3_ENST00000514157.1_Silent_p.P457P|LPHN3_ENST00000507164.1_Silent_p.P525P|LPHN3_ENST00000508946.1_Silent_p.P457P|LPHN3_ENST00000506746.1_Silent_p.P525P|LPHN3_ENST00000507625.1_Silent_p.P525P|LPHN3_ENST00000509896.1_Silent_p.P525P|LPHN3_ENST00000504896.1_Silent_p.P457P|LPHN3_ENST00000506720.1_Silent_p.P525P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	457					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTACCACCCCGTCAGTGTCAG	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		16196	0.0		0.001	False		,,,				2504	0.001					ENST00000512091.1																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(1369-1371)ccG>ccA		latrophilin 3		G		0,4026		0,0,2013	123.0	117.0	119.0		1371	-11.7	0.0	4	dbSNP_134	119	1,8335		0,1,4167	no	coding-synonymous	LPHN3	NM_015236.4		0,1,6180	AA,AG,GG		0.012,0.0,0.0081		457/1470	62758468	1,12361	2013	4168	6181	SO:0001819	synonymous_variant	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758468G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1371G>A	4.37:g.62758468G>A						LPHN3_ENST00000514157.1_Silent_p.P457P|LPHN3_ENST00000509896.1_Silent_p.P525P|LPHN3_ENST00000508946.1_Silent_p.P457P|LPHN3_ENST00000545650.1_Silent_p.P457P|LPHN3_ENST00000508693.1_Silent_p.P525P|LPHN3_ENST00000507625.1_Silent_p.P525P|LPHN3_ENST00000514591.1_Silent_p.P457P|LPHN3_ENST00000507164.1_Silent_p.P525P|LPHN3_ENST00000506746.1_Silent_p.P525P|LPHN3_ENST00000511324.1_Silent_p.P525P|LPHN3_ENST00000506720.1_Silent_p.P525P|LPHN3_ENST00000504896.1_Silent_p.P457P|LPHN3_ENST00000514996.1_Silent_p.P457P|LPHN3_ENST00000506700.1_Silent_p.P457P	p.P457P			Q9HAR2	LPHN3_HUMAN			9	2118	+			457					E9PE04|O94867|Q9NWK5	Silent	SNP	ENST00000514591.1	37	c.1371G>A	CCDS54768.1																																																																																				0.522	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			24	131	0	0	0	1	0	24	131				
WDR17	116966	broad.mit.edu	37	4	177071069	177071069	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:177071069T>C	ENST00000280190.4	+	15	2237	c.2081T>C	c.(2080-2082)cTg>cCg	p.L694P	WDR17_ENST00000508596.1_Missense_Mutation_p.L670P|WDR17_ENST00000393643.2_Missense_Mutation_p.L670P|WDR17_ENST00000507824.2_Missense_Mutation_p.L677P			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	694										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATAAATATTCTGGCAGACAGA	0.393																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2008-2010)cTg>cCg		WD repeat domain 17							103.0	107.0	106.0					4																	177071069		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177071069T>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2081T>C	4.37:g.177071069T>C	ENSP00000280190:p.Leu694Pro					WDR17_ENST00000507824.2_Missense_Mutation_p.L677P|WDR17_ENST00000508596.1_Missense_Mutation_p.L670P|WDR17_ENST00000280190.4_Missense_Mutation_p.L694P	p.L670P	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	14	2261	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	694					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2009T>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.989759	0.74589	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61274	0.15;0.18;0.12	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);	0.193219	0.33075	N	0.005307	T	0.74831	0.3768	M	0.75447	2.3	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	T	0.78003	-0.2374	10	0.62326	D	0.03	-0.0139	15.3784	0.74633	0.0:0.0:0.0:1.0	.	670;694	E7EQX0;Q8IZU2	.;WDR17_HUMAN	P	670;670;694;677	ENSP00000422763:L670P;ENSP00000377258:L670P;ENSP00000280190:L694P	ENSP00000280190:L694P	L	+	2	0	WDR17	177308063	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.320000	0.79064	2.026000	0.59711	0.460000	0.39030	CTG		0.393	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			4	155	0	0	0	1	0	4	155				
DPH7	92715	broad.mit.edu	37	9	140468754	140468754	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr9:140468754C>G	ENST00000277540.2	-	5	703	c.546G>C	c.(544-546)agG>agC	p.R182S	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1	Q9BTV6	DPH7_HUMAN	diphthamide biosynthesis 7	182					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)												GCAGCCTGGGCCTCGTCTCAT	0.542																																						ENST00000277540.2																			0											c.(544-546)agG>agC		diphthamide biosynthesis 7							131.0	123.0	126.0					9																	140468754		2203	4300	6503	SO:0001583	missense	92715							g.chr9:140468754C>G	AK075115	CCDS7047.1	9q34.3	2013-06-20	2013-06-20	2013-06-20	ENSG00000148399	ENSG00000148399		"""WD repeat domain containing"""	25199	protein-coding gene	gene with protein product		613210	"""chromosome 9 open reading frame 112"", ""WD repeat domain 85"""	C9orf112, WDR85		23486472	Standard	NM_138778		Approved	FLJ90634, RRT2	uc004cnk.1	Q9BTV6	OTTHUMG00000020991	ENST00000277540.2:c.546G>C	9.37:g.140468754C>G	ENSP00000277540:p.Arg182Ser					DPH7_ENST00000479650.1_5'UTR	p.R182S	NM_138778.2	NP_620133.1					5	703	-								Q96AB7	Missense_Mutation	SNP	ENST00000277540.2	37	c.546G>C	CCDS7047.1	.	.	.	.	.	.	.	.	.	.	C	6.783	0.513382	0.12944	.	.	ENSG00000148399	ENST00000277540	T	0.65732	-0.17	4.67	-0.00352	0.14025	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	1.561550	0.03818	N	0.266997	T	0.24661	0.0598	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	10	0.19147	T	0.46	.	1.1977	0.01878	0.2596:0.3494:0.2196:0.1714	.	182	Q9BTV6	WDR85_HUMAN	S	182	ENSP00000277540:R182S	ENSP00000277540:R182S	R	-	3	2	WDR85	139588575	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.795000	0.04580	0.338000	0.23692	0.306000	0.20318	AGG		0.542	DPH7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055350.1	NM_138778		37	150	0	0	0	1	0	37	150				
EXOSC9	5393	broad.mit.edu	37	4	122723880	122723880	+	Silent	SNP	A	A	C			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:122723880A>C	ENST00000243498.5	+	3	321	c.213A>C	c.(211-213)gcA>gcC	p.A71A	EXOSC9_ENST00000512454.1_Silent_p.A55A|EXOSC9_ENST00000379663.3_Silent_p.A71A|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	71	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TCAATCGGGCAACAGAAGGTA	0.388																																						ENST00000512454.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						c.(163-165)gcA>gcC		exosome component 9							96.0	100.0	99.0					4																	122723880		2203	4300	6503	SO:0001819	synonymous_variant	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122723880A>C	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.213A>C	4.37:g.122723880A>C						EXOSC9_ENST00000243498.5_Silent_p.A71A|EXOSC9_ENST00000379663.3_Silent_p.A71A|EXOSC9_ENST00000509980.1_3'UTR	p.A55A			Q06265	EXOS9_HUMAN			2	381	+			71			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	37	c.165A>C	CCDS3722.2																																																																																				0.388	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2	NM_005033		19	78	0	0	0	1	0	19	78				
CD200R1L	344807	broad.mit.edu	37	3	112538718	112538718	+	Missense_Mutation	SNP	G	G	A	rs191314755		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr3:112538718G>A	ENST00000398214.1	-	5	929	c.704C>T	c.(703-705)gCg>gTg	p.A235V	CD200R1L_ENST00000448932.1_Missense_Mutation_p.A214V|CD200R1L_ENST00000488794.1_Missense_Mutation_p.A214V	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	235						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TAAGGACAACGCTGGAGATCC	0.373													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18463	0.0		0.0	False		,,,				2504	0.0					ENST00000488794.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						c.(640-642)gCg>gTg		CD200 receptor 1-like		G	VAL/ALA,VAL/ALA	0,3710		0,0,1855	88.0	85.0	86.0		704,641	-7.7	0.0	3		86	1,8197		0,1,4098	no	missense,missense	CD200R1L	NM_001008784.2,NM_001199215.1	64,64	0,1,5953	AA,AG,GG		0.0122,0.0,0.0084	benign,benign	235/272,214/251	112538718	1,11907	1855	4099	5954	SO:0001583	missense	344807					integral to membrane	receptor activity	g.chr3:112538718G>A	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.704C>T	3.37:g.112538718G>A	ENSP00000381272:p.Ala235Val					CD200R1L_ENST00000398214.1_Missense_Mutation_p.A235V|CD200R1L_ENST00000448932.1_Missense_Mutation_p.A214V	p.A214V			Q6Q8B3	MO2R2_HUMAN			7	1230	-			235			Ig-like C2-type.		Q6WHB7	Missense_Mutation	SNP	ENST00000398214.1	37	c.641C>T	CCDS43131.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	9.757	1.169002	0.21621	0.0	1.22E-4	ENSG00000206531	ENST00000398214;ENST00000488794;ENST00000448932	T;T;T	0.17691	2.26;2.26;2.26	3.84	-7.67	0.01272	.	.	.	.	.	T	0.09686	0.0238	L	0.43152	1.355	0.09310	N	1	B	0.18461	0.028	B	0.04013	0.001	T	0.25293	-1.0136	9	0.34782	T	0.22	.	1.7974	0.03064	0.2208:0.2273:0.4189:0.1329	.	235	Q6Q8B3	MO2R2_HUMAN	V	235;214;214	ENSP00000381272:A235V;ENSP00000418413:A214V;ENSP00000415132:A214V	ENSP00000381272:A235V	A	-	2	0	CD200R1L	114021408	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.225000	0.02956	-2.342000	0.00624	-0.142000	0.14014	GCG		0.373	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354365.1	NM_001008784		15	50	0	0	0	1	0	15	50				
PCDHA6	56142	broad.mit.edu	37	5	140209377	140209377	+	Silent	SNP	G	G	A			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr5:140209377G>A	ENST00000529310.1	+	1	1815	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	567					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCTGGCGCCTCGGGTGG	0.701																																						ENST00000529310.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1699-1701)gcG>gcA									69.0	74.0	72.0					5																	140209377		2203	4299	6502	SO:0001819	synonymous_variant	0							g.chr5:140209377G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1701G>A	5.37:g.140209377G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.A567A	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1815	+								O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.1701G>A	CCDS47281.1																																																																																				0.701	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		38	186	0	0	0	1	0	38	186				
PSG3	5671	broad.mit.edu	37	19	43233351	43233351	+	Silent	SNP	G	G	A	rs374575970		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:43233351G>A	ENST00000327495.5	-	5	1351	c.1167C>T	c.(1165-1167)agC>agT	p.S389S	PSG3_ENST00000595140.1_Silent_p.S389S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	389	Ig-like C2-type 3.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATAGAGCCCGCTATGCTTTG	0.468																																						ENST00000327495.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(1165-1167)agC>agT		pregnancy specific beta-1-glycoprotein 3		G		0,4406		0,0,2203	183.0	190.0	187.0		1167	-1.1	0.0	19		187	1,8599		0,1,4299	no	coding-synonymous	PSG3	NM_021016.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		389/429	43233351	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5671				defense response|female pregnancy	extracellular region		g.chr19:43233351G>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1167C>T	19.37:g.43233351G>A						PSG3_ENST00000595140.1_Silent_p.S389S	p.S389S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN			5	1351	-		Prostate(69;0.00682)	389			Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	c.1167C>T	CCDS12611.1																																																																																				0.468	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		5	378	0	0	0	1	0	5	378				
CD1E	913	broad.mit.edu	37	1	158325304	158325304	+	Silent	SNP	C	C	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:158325304C>T	ENST00000368167.3	+	3	809	c.570C>T	c.(568-570)tgC>tgT	p.C190C	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368160.3_Silent_p.C190C|CD1E_ENST00000434258.1_Silent_p.C188C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000444681.2_Silent_p.C91C|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Silent_p.C190C|CD1E_ENST00000368163.3_Silent_p.C190C|CD1E_ENST00000368157.1_Intron	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	190					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTCACACCTGCCCTCGATTTC	0.507																																						ENST00000444681.2																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49						c.(271-273)tgC>tgT		CD1e molecule							52.0	53.0	53.0					1																	158325304		1911	4130	6041	SO:0001819	synonymous_variant	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158325304C>T	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.570C>T	1.37:g.158325304C>T						CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368163.3_Silent_p.C190C|CD1E_ENST00000368167.3_Silent_p.C190C|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368161.3_Silent_p.C190C|CD1E_ENST00000368160.3_Silent_p.C190C|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Silent_p.C188C	p.C91C	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN			2	566	+	all_hematologic(112;0.0378)		190					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Silent	SNP	ENST00000368167.3	37	c.273C>T	CCDS41417.1																																																																																				0.507	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		16	41	0	0	0	1	0	16	41				
PLXNB1	5364	broad.mit.edu	37	3	48465260	48465260	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr3:48465260C>T	ENST00000358536.4	-	3	1030	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R254Q|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R254Q|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R254Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCTGGTCCCGGAGACACAC	0.622																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(760-762)cGg>cAg		plexin B1							61.0	59.0	60.0					3																	48465260		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48465260C>T	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.761G>A	3.37:g.48465260C>T	ENSP00000351338:p.Arg254Gln					PLXNB1_ENST00000456774.1_Missense_Mutation_p.R254Q|PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R254Q|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R254Q	p.R254Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	3	1030	-			254			Sema.		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.761G>A	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	C	3.153	-0.173789	0.06421	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.10382	2.88;2.88;2.88;2.88	4.41	2.57	0.30868	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	1.179070	0.06367	N	0.712854	T	0.02610	0.0079	N	0.00413	-1.525	0.80722	D	1	B;B	0.26876	0.001;0.162	B;B	0.14578	0.001;0.011	T	0.41034	-0.9531	10	0.12103	T	0.63	.	6.2599	0.20893	0.0:0.5603:0.0:0.4397	.	254;254	O43157;O43157-2	PLXB1_HUMAN;.	Q	254	ENSP00000296440:R254Q;ENSP00000351242:R254Q;ENSP00000351338:R254Q;ENSP00000414199:R254Q	ENSP00000296440:R254Q	R	-	2	0	PLXNB1	48440264	0.925000	0.31364	0.990000	0.47175	0.113000	0.19764	1.323000	0.33701	0.296000	0.22592	0.591000	0.81541	CGG		0.622	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		10	92	0	0	0	1	0	10	92				
ZC3H18	124245	broad.mit.edu	37	16	88688650	88688650	+	Silent	SNP	G	G	C	rs370135967		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:88688650G>C	ENST00000301011.5	+	9	1721	c.1521G>C	c.(1519-1521)ccG>ccC	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	507						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602																																					Ovarian(121;375 2276 20373 38669)	ENST00000301011.5																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42						c.(1519-1521)ccG>ccC		zinc finger CCCH-type containing 18							50.0	52.0	52.0					16																	88688650		2198	4300	6498	SO:0001819	synonymous_variant	124245					nucleus	nucleic acid binding|zinc ion binding	g.chr16:88688650G>C	BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1521G>C	16.37:g.88688650G>C						ZC3H18_ENST00000452588.2_Silent_p.P531P	p.P507P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0542)	9	1721	+			507					Q96DG4|Q96MP7	Silent	SNP	ENST00000301011.5	37	c.1521G>C	CCDS10967.1	.	.	.	.	.	.	.	.	.	.	G	2.043	-0.419600	0.04734	.	.	ENSG00000158545	ENST00000545404	.	.	.	5.64	-11.3	0.00108	.	.	.	.	.	T	0.39545	0.1082	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53858	-0.8379	4	.	.	.	-20.3562	3.7808	0.08680	0.3389:0.2888:0.2899:0.0825	.	.	.	.	P	331	.	.	R	+	2	0	ZC3H18	87216151	0.000000	0.05858	0.119000	0.21687	0.358000	0.29455	-4.480000	0.00227	-4.082000	0.00075	-0.812000	0.03155	CGC		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000269168.1	NM_144604		5	28	0	0	0	1	0	5	28				
UTRN	7402	broad.mit.edu	37	6	144844318	144844318	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr6:144844318G>A	ENST00000367545.3	+	40	5900	c.5900G>A	c.(5899-5901)cGg>cAg	p.R1967Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1967					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.R1967L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TACAGTGATCGGAAAGGGTAT	0.378																																						ENST00000367545.3																			1	Substitution - Missense(1)	p.R1967L(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(5899-5901)cGg>cAg		utrophin							69.0	67.0	68.0					6																	144844318		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144844318G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5900G>A	6.37:g.144844318G>A	ENSP00000356515:p.Arg1967Gln						p.R1967Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	40	5900	+		Ovarian(120;0.218)	1967					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.5900G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.534221	0.45073	.	.	ENSG00000152818	ENST00000367545	T	0.48836	0.8	5.8	0.956	0.19608	.	0.119448	0.38217	N	0.001778	T	0.26448	0.0646	M	0.77103	2.36	0.80722	D	1	B	0.32396	0.369	B	0.21917	0.037	T	0.10706	-1.0618	10	0.38643	T	0.18	.	10.5887	0.45298	0.3182:0.0:0.6818:0.0	.	1967	P46939	UTRO_HUMAN	Q	1967	ENSP00000356515:R1967Q	ENSP00000356515:R1967Q	R	+	2	0	UTRN	144886011	0.930000	0.31532	0.526000	0.27913	0.755000	0.42902	1.422000	0.34826	0.097000	0.17492	-0.216000	0.12614	CGG		0.378	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			11	38	0	0	0	1	0	11	38				
IGHV4-39	28394	broad.mit.edu	37	14	106877737	106877737	+	RNA	SNP	T	T	C			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr14:106877737T>C	ENST00000390619.2	-	0	306									immunoglobulin heavy variable 4-39																		CGGGTTGTAGTAGGTGCTCCC	0.567																																						ENST00000390619.2																			0																				162.0	120.0	133.0					14																	106877737		1939	4123	6062			0							g.chr14:106877737T>C	L10094		14q32.33	2012-02-08			ENSG00000211959	ENSG00000211959		"""Immunoglobulins / IGH locus"""	5651	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152067		14.37:g.106877737T>C														0	306	-									RNA	SNP	ENST00000390619.2	37																																																																																						0.567	IGHV4-39-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325161.1	NG_001019		23	372	0	0	0	1	0	23	372				
SPPL2A	84888	broad.mit.edu	37	15	51028899	51028899	+	Missense_Mutation	SNP	T	T	C	rs367778266		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:51028899T>C	ENST00000261854.5	-	7	1046	c.772A>G	c.(772-774)Atg>Gtg	p.M258V		NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	258					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TACAGACTCATTGCTGATGCT	0.318																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(772-774)Atg>Gtg		signal peptide peptidase like 2A		T	VAL/MET	0,4392		0,0,2196	102.0	99.0	100.0		772	4.4	1.0	15		100	1,8583		0,1,4291	no	missense	SPPL2A	NM_032802.3	21	0,1,6487	CC,CT,TT		0.0116,0.0,0.0077	benign	258/521	51028899	1,12975	2196	4292	6488	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51028899T>C		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.772A>G	15.37:g.51028899T>C	ENSP00000261854:p.Met258Val						p.M258V	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	7	1046	-			258					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.772A>G	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.424445	0.25639	0.0	1.16E-4	ENSG00000138600	ENST00000261854	T	0.15603	2.41	5.57	4.45	0.53987	.	0.288277	0.40728	N	0.001030	T	0.11623	0.0283	L	0.27053	0.805	0.32272	N	0.568724	B	0.09022	0.002	B	0.11329	0.006	T	0.15407	-1.0438	10	0.15499	T	0.54	-3.1359	11.4328	0.50052	0.0:0.0706:0.0:0.9294	.	258	Q8TCT8	PSL2_HUMAN	V	258	ENSP00000261854:M258V	ENSP00000261854:M258V	M	-	1	0	AC012100.1	48816191	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.694000	0.37752	1.056000	0.40484	0.533000	0.62120	ATG		0.318	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		4	49	0	0	0	1	0	4	49				
ZNF528	84436	broad.mit.edu	37	19	52919156	52919156	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:52919156A>G	ENST00000360465.3	+	7	1477	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	351					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TACTGGTGAGAAACCTTACAA	0.388																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1051-1053)Aaa>Gaa		zinc finger protein 528							67.0	66.0	66.0					19																	52919156		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919156A>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1051A>G	19.37:g.52919156A>G	ENSP00000353652:p.Lys351Glu					ZNF528_ENST00000391788.2_3'UTR	p.K351E	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1477	+			351					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1051A>G	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128686	0.37533	.	.	ENSG00000167555	ENST00000360465	T	0.27104	1.69	2.08	0.972	0.19704	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34454	0.0898	L	0.52823	1.66	0.24187	N	0.995564	P	0.50066	0.931	P	0.54856	0.762	T	0.15037	-1.0451	9	0.87932	D	0	.	7.0666	0.25156	0.7683:0.2317:0.0:0.0	.	351	Q3MIS6	ZN528_HUMAN	E	351	ENSP00000353652:K351E	ENSP00000353652:K351E	K	+	1	0	ZNF528	57610968	0.994000	0.37717	0.923000	0.36655	0.124000	0.20399	3.234000	0.51320	0.050000	0.15949	0.533000	0.62120	AAA		0.388	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		16	68	0	0	0	1	0	16	68				
MRPS18C	51023	broad.mit.edu	37	4	84377254	84377254	+	Silent	SNP	C	C	T	rs141532727	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:84377254C>T	ENST00000295491.4	+	1	137	c.24C>T	c.(22-24)tgC>tgT	p.C8C	MRPS18C_ENST00000507349.1_Silent_p.C8C|HELQ_ENST00000440639.2_5'Flank|HELQ_ENST00000510985.1_5'Flank|HELQ_ENST00000295488.3_5'Flank|MRPS18C_ENST00000507019.1_Silent_p.C8C	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	8					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TTGCTGTTTGCGGTGGTCTAG	0.552																																						ENST00000295491.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(22-24)tgC>tgT		mitochondrial ribosomal protein S18C		C		4,4402	8.1+/-20.4	0,4,2199	190.0	195.0	193.0		24	-0.0	0.0	4	dbSNP_134	193	0,8600		0,0,4300	no	coding-synonymous	MRPS18C	NM_016067.2		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		8/143	84377254	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	51023				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr4:84377254C>T		CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.24C>T	4.37:g.84377254C>T						MRPS18C_ENST00000507349.1_Silent_p.C8C|MRPS18C_ENST00000507019.1_Silent_p.C8C	p.C8C	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN			1	137	+		Hepatocellular(203;0.114)	8						Silent	SNP	ENST00000295491.4	37	c.24C>T	CCDS3604.1	.	.	.	.	.	.	.	.	.	.	C	5.334	0.246952	0.10130	9.08E-4	0.0	ENSG00000163319	ENST00000509970	.	.	.	4.72	-0.0422	0.13864	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	0.0289	4.1526	0.10245	0.0:0.4496:0.1685:0.3819	.	.	.	.	W	7	.	.	R	+	1	2	MRPS18C	84596278	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.225000	0.02956	0.037000	0.15575	-0.137000	0.14449	CGG		0.552	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252820.2			5	315	0	0	0	1	0	5	315				
ST8SIA1	6489	broad.mit.edu	37	12	22354692	22354692	+	Nonsense_Mutation	SNP	C	C	A	rs537133913		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr12:22354692C>A	ENST00000396037.4	-	5	1346	c.865G>T	c.(865-867)Gag>Tag	p.E289*	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.E146*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	289					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ATGGCCACCTCTTCACAGAGA	0.512																																						ENST00000396037.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						c.(865-867)Gag>Tag		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1							63.0	65.0	64.0					12																	22354692		2203	4300	6503	SO:0001587	stop_gained	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354692C>A	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.865G>T	12.37:g.22354692C>A	ENSP00000379353:p.Glu289*					ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.E146*	p.E289*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN			5	1346	-			289					A8K4H6|Q17RL0|Q6PZN5|Q93064	Nonsense_Mutation	SNP	ENST00000396037.4	37	c.865G>T	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	40	8.513430	0.98843	.	.	ENSG00000111728	ENST00000396037;ENST00000539510	.	.	.	5.73	5.73	0.89815	.	0.090812	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-16.1461	20.2602	0.98440	0.0:1.0:0.0:0.0	.	.	.	.	X	289;146	.	ENSP00000379353:E289X	E	-	1	0	ST8SIA1	22245959	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.752000	0.85141	2.861000	0.98227	0.655000	0.94253	GAG		0.512	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		19	80	1	0	1.67942e-08	1	1.75406e-08	19	80				
SSPO	23145	broad.mit.edu	37	7	149509149	149509149	+	RNA	SNP	C	C	T			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:149509149C>T	ENST00000378016.2	+	0	9695							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCCACACCTCTCTGCTCA	0.697																																						ENST00000378016.2																			0													SCO-spondin							31.0	37.0	35.0					7																	149509149		2077	4198	6275			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149509149C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149509149C>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	9695	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				20	56	0	0	0	1	0	20	56				
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs112207161	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>gAGGAGGgg	p.428_429insEE	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insEE|SKIDA1_ENST00000487107.1_5'Flank	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	347						nucleus (GO:0005634)		p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619														2708	0.540735	0.916	0.4063	5008	,	,		10303	0.3244		0.5408	False		,,,				2504	0.3517					ENST00000449193.2																			2	Insertion - In frame(2)	p.E428_G429insEE(2)	soft_tissue(2)								c.(1285-1287)ggg>AGGAGGggg		SKI/DACH domain containing 1				3173,56,18,597		1435,46,11,246,5,0,0,3,1,175						3.0	1.0		dbSNP_132	7	4189,51,27,3619		1322,36,14,1495,1,0,13,2,9,1051	no	codingComplex	C10orf140	NM_207371.3		2757,82,25,1741,6,0,13,5,10,1226	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		46.8805,17.4558,37.2379				7362,107,45,4216				SO:0001652	inframe_insertion	387640							g.chr10:21805466_21805467insCCTCCT	AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.1280_1285dupAGGAGG	10.37:g.21805467_21805472dupCCTCCT	ENSP00000410041:p.Glu427_Glu428dup					SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	p.428_429insRR	NM_207371.3	NP_997254.3					4	3537_3538	-								B1ANA5|Q6ZMX4|Q8N3C3	In_Frame_Ins	INS	ENST00000449193.2	37	c.1285_1286insAGGAGG	CCDS44363.1																																																																																				0.619	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2	NM_207371		4	4						4	4	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709885	22709885	+	RNA	DEL	G	G	-	rs372484877		TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:22709885delG	ENST00000314246.8	-	0	1069				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											TATCTAATGTGGGGGGGGCTG	0.537																																						ENST00000314246.8																			0																																																			0							g.chr15:22709885delG			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709885delG														0	1069	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.537	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		6	12						6	12	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		actctgtctcaaaaaaaaaaa	0.413																																						ENST00000528584.1																			0																																																			0							g.chr15:28900331delA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900331delA								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.413	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		4	5						4	5	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539|rs62026972	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.576																																						ENST00000561463.1																			0																																																			0							g.chr15:102293062_102293064delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293062_102293064delCTC														0	1108_1110	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.576	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	1						5	1	---	---	---	---
GMIP	51291	broad.mit.edu	37	19	19748340	19748340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:19748340delC	ENST00000203556.4	-	11	1095	c.958delG	c.(958-960)gcgfs	p.A320fs	GMIP_ENST00000445806.2_Frame_Shift_Del_p.A320fs|GMIP_ENST00000587238.1_Frame_Shift_Del_p.A320fs|GMIP_ENST00000586269.1_5'Flank	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	320					intracellular signal transduction (GO:0035556)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTGCCTGCGCCCCCCGCAGC	0.741																																						ENST00000203556.4																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(958-960)cgfs		GEM interacting protein							2.0	2.0	2.0					19																	19748340		1436	2879	4315	SO:0001589	frameshift_variant	51291				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity	g.chr19:19748340delC	AF132541	CCDS12408.1, CCDS74318.1	19p13.11	2011-09-07				ENSG00000089639		"""Rho GTPase activating proteins"""	24852	protein-coding gene	gene with protein product		609694				12093360, 16086184	Standard	XM_005259927		Approved	ARHGAP46	uc002nnd.3	Q9P107		ENST00000203556.4:c.958delG	19.37:g.19748340delC	ENSP00000203556:p.Ala320fs					GMIP_ENST00000445806.2_Frame_Shift_Del_p.A320fs|GMIP_ENST00000587238.1_Frame_Shift_Del_p.A320fs	p.A320fs	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN			11	1095	-			320					A0AVN9|B7ZLZ0	Frame_Shift_Del	DEL	ENST00000203556.4	37	c.958delG	CCDS12408.1																																																																																				0.741	GMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460551.1	NM_016573		2	4						2	4	---	---	---	---
