#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
ZNF157	7712	broad.mit.edu	37	X	47272239	47272239	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272239C>G	ENST00000377073.3	+	4	853	c.767C>G	c.(766-768)tCt>tGt	p.S256C		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	256					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAAACCTTTTCTGAGAAGGCA	0.428																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(766-768)tCt>tGt		zinc finger protein 157							58.0	50.0	53.0					X																	47272239		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272239C>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.767C>G	X.37:g.47272239C>G	ENSP00000366273:p.Ser256Cys						p.S256C	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	853	+			256					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.767C>G	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607244	0.28623	.	.	ENSG00000147117	ENST00000377073	T	0.07688	3.17	3.09	1.15	0.20763	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16085	0.0387	M	0.64630	1.985	0.20074	N	0.999933	D	0.71674	0.998	P	0.61800	0.894	T	0.16482	-1.0401	9	0.49607	T	0.09	.	1.2864	0.02052	0.2316:0.4102:0.2221:0.1362	.	256	P51786	ZN157_HUMAN	C	256	ENSP00000366273:S256C	ENSP00000366273:S256C	S	+	2	0	ZNF157	47157183	0.000000	0.05858	0.153000	0.22517	0.993000	0.82548	-1.860000	0.01656	0.167000	0.19631	0.600000	0.82982	TCT		0.428	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		8	25	0	0	0	1	0	8	25				
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					ENST00000597597.1																			1	Substitution - coding silent(1)	p.I338I(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1012-1014)atC>atT		zinc finger protein 83							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000600714.1_Intron	p.I338I			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3267	-			338					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		5	167	0	0	0	1	0	5	167				
ZNF157	7712	broad.mit.edu	37	X	47271771	47271771	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47271771C>T	ENST00000377073.3	+	4	385	c.299C>T	c.(298-300)tCt>tTt	p.S100F		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	100					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						tttaaaggatctctctcactg	0.373																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(298-300)tCt>tTt		zinc finger protein 157							110.0	92.0	98.0					X																	47271771		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47271771C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.299C>T	X.37:g.47271771C>T	ENSP00000366273:p.Ser100Phe						p.S100F	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	385	+			100					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.299C>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	8.327	0.825700	0.16749	.	.	ENSG00000147117	ENST00000377073	T	0.07216	3.21	2.75	2.75	0.32379	.	.	.	.	.	T	0.10937	0.0267	L	0.55990	1.75	0.09310	N	0.999995	P	0.50943	0.94	P	0.44860	0.462	T	0.15321	-1.0441	9	0.62326	D	0.03	.	8.2069	0.31461	0.0:1.0:0.0:0.0	.	100	P51786	ZN157_HUMAN	F	100	ENSP00000366273:S100F	ENSP00000366273:S100F	S	+	2	0	ZNF157	47156715	0.027000	0.19231	0.335000	0.25508	0.929000	0.56500	1.932000	0.40143	1.652000	0.50683	0.529000	0.55759	TCT		0.373	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		11	21	0	0	0	1	0	11	21				
NCKAP1L	3071	broad.mit.edu	37	12	54912463	54912463	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr12:54912463C>T	ENST00000293373.6	+	14	1446	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S406F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	456					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGGAGGAGTCCATCATCATG	0.498																																						ENST00000293373.6																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						c.(1366-1368)tCc>tTc		NCK-associated protein 1-like							245.0	204.0	218.0					12																	54912463		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54912463C>T	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1367C>T	12.37:g.54912463C>T	ENSP00000293373:p.Ser456Phe					NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S406F	p.S456F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN			14	1446	+			456					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1367C>T	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853439	0.91355	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.35973	1.28;1.28	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.63200	0.2491	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.65203	-0.6225	10	0.66056	D	0.02	-17.0057	17.4922	0.87707	0.0:1.0:0.0:0.0	.	456	P55160	NCKPL_HUMAN	F	456;406	ENSP00000293373:S456F;ENSP00000445596:S406F	ENSP00000293373:S456F	S	+	2	0	NCKAP1L	53198730	1.000000	0.71417	0.978000	0.43139	0.917000	0.54804	7.578000	0.82498	2.724000	0.93272	0.561000	0.74099	TCC		0.498	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		17	81	0	0	0	1	0	17	81				
ZNF536	9745	broad.mit.edu	37	19	30936514	30936514	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:30936514C>T	ENST00000355537.3	+	2	2192	c.2045C>T	c.(2044-2046)tCg>tTg	p.S682L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	682					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAGTCCCAGTCGGTGAGCCGC	0.711																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2044-2046)tCg>tTg		zinc finger protein 536							27.0	30.0	29.0					19																	30936514		2200	4295	6495	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30936514C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2045C>T	19.37:g.30936514C>T	ENSP00000347730:p.Ser682Leu						p.S682L	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	2192	+	Esophageal squamous(110;0.0834)		682					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2045C>T	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205941	0.79127	.	.	ENSG00000198597	ENST00000355537	T	0.11277	2.79	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	T	0.04664	-1.0935	10	0.28530	T	0.3	-16.7377	19.4311	0.94768	0.0:1.0:0.0:0.0	.	682;682	A7E228;O15090	.;ZN536_HUMAN	L	682	ENSP00000347730:S682L	ENSP00000347730:S682L	S	+	2	0	ZNF536	35628354	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.413000	0.80104	2.557000	0.86248	0.655000	0.94253	TCG		0.711	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		4	24	0	0	0	1	0	4	24				
RAET1K	646024	broad.mit.edu	37	6	150322175	150322175	+	RNA	SNP	T	T	C			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr6:150322175T>C	ENST00000533735.1	-	0	701					NR_024045.1				retinoic acid early transcript 1K pseudogene																		AGGAGGAAAGTCTGTCCATTG	0.512																																						ENST00000533735.1																			0																																																			0							g.chr6:150322175T>C	AF425244		6q25.1	2012-01-10			ENSG00000218358	ENSG00000218358			16797	pseudogene	pseudogene						11827464	Standard	NR_024045		Approved		uc003qnq.3		OTTHUMG00000015815		6.37:g.150322175T>C								NR_024045.1						0	701	-									RNA	SNP	ENST00000533735.1	37																																																																																						0.512	RAET1K-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390882.1			5	34	0	0	0	1	0	5	34				
GPR128	84873	broad.mit.edu	37	3	100362211	100362211	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr3:100362211C>T	ENST00000273352.3	+	7	1068	c.800C>T	c.(799-801)gCg>gTg	p.A267V	SNORA31_ENST00000517180.1_RNA|GPR128_ENST00000475887.1_Intron	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	267					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAGAAAATGCGGTGGGGCCT	0.403																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(799-801)gCg>gTg		G protein-coupled receptor 128							151.0	154.0	153.0					3																	100362211		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100362211C>T	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.800C>T	3.37:g.100362211C>T	ENSP00000273352:p.Ala267Val					GPR128_ENST00000475887.1_Intron	p.A267V	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			7	1068	+			267					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.800C>T	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	C	9.010	0.982339	0.18889	.	.	ENSG00000144820	ENST00000273352	T	0.39229	1.09	3.93	-0.181	0.13291	.	1.886950	0.02509	N	0.091316	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.30211	0.273	B	0.14578	0.011	T	0.06180	-1.0841	10	0.11182	T	0.66	.	1.0452	0.01568	0.1829:0.4275:0.1782:0.2115	.	267	Q96K78	GP128_HUMAN	V	267	ENSP00000273352:A267V	ENSP00000273352:A267V	A	+	2	0	GPR128	101844901	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.359000	0.07632	-0.154000	0.11118	-0.143000	0.13931	GCG		0.403	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			4	137	0	0	0	1	0	4	137				
CSMD3	114788	broad.mit.edu	37	8	114449051	114449051	+	Silent	SNP	T	T	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr8:114449051T>A	ENST00000297405.5	-	1	277	c.33A>T	c.(31-33)gcA>gcT	p.A11A	CSMD3_ENST00000455883.2_Silent_p.A11A|CSMD3_ENST00000352409.3_Silent_p.A11A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGATTCCTTTGCTCGGCTTT	0.512										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(31-33)gcA>gcT		CUB and Sushi multiple domains 3							103.0	110.0	108.0					8																	114449051		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114449051T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.33A>T	8.37:g.114449051T>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	OREG0018933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1458	CSMD3_ENST00000352409.3_Silent_p.A11A|CSMD3_ENST00000455883.2_Silent_p.A11A	p.A11A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			1	277	-			11					Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.33A>T	CCDS6315.1																																																																																				0.512	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		18	98	0	0	0	1	0	18	98				
RAPGEF4	11069	broad.mit.edu	37	2	173891986	173891986	+	Splice_Site	SNP	C	C	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:173891986C>G	ENST00000397081.3	+	25	2700	c.2557C>G	c.(2557-2559)Cac>Gac	p.H853D	RAPGEF4_ENST00000409036.1_Splice_Site_p.H853D|RAPGEF4_ENST00000535187.1_Splice_Site_p.H633D|RAPGEF4_ENST00000539331.1_Splice_Site_p.H700D|RAPGEF4_ENST00000538974.1_Splice_Site_p.H682D|RAPGEF4_ENST00000397087.3_Splice_Site_p.H709D|RAPGEF4_ENST00000540783.1_Splice_Site_p.H700D|RAPGEF4_ENST00000264111.6_Splice_Site_p.H852D	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	853	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GATAGCAGCCCAGTAAGTATA	0.338																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e25+1		Rap guanine nucleotide exchange factor (GEF) 4							35.0	35.0	35.0					2																	173891986		1799	4069	5868	SO:0001630	splice_region_variant	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173891986C>G	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.2558+1C>G	2.37:g.173891986C>G						RAPGEF4_ENST00000540783.1_Splice_Site_p.H700_splice|RAPGEF4_ENST00000397087.3_Splice_Site_p.H709_splice|RAPGEF4_ENST00000539331.1_Splice_Site_p.H700_splice|RAPGEF4_ENST00000409036.1_Splice_Site_p.H853_splice|RAPGEF4_ENST00000397081.3_Splice_Site_p.H853_splice|RAPGEF4_ENST00000535187.1_Splice_Site_p.H633_splice|RAPGEF4_ENST00000538974.1_Splice_Site_p.H682_splice	p.H852_splice			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		25	2741	+			853			Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Splice_Site	SNP	ENST00000397081.3	37	c.2555_splice	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872440	0.72180	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000535187;ENST00000397085	T;T;T;T;T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.65	5.65	0.86999	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.045298	0.85682	D	0.000000	T	0.56232	0.1971	M	0.83012	2.62	0.80722	D	1	P;P	0.48764	0.889;0.915	P;P	0.55161	0.66;0.77	T	0.60900	-0.7171	10	0.72032	D	0.01	.	19.7321	0.96186	0.0:1.0:0.0:0.0	.	709;853	Q8WZA2-3;Q8WZA2	.;RPGF4_HUMAN	D	852;853;853;709;682;700;700;633;84	ENSP00000264111:H852D;ENSP00000380271:H853D;ENSP00000387104:H853D;ENSP00000380276:H709D;ENSP00000440135:H682D;ENSP00000440250:H700D;ENSP00000437384:H700D;ENSP00000438011:H633D;ENSP00000380274:H84D	ENSP00000264111:H852D	H	+	1	0	RAPGEF4	173600232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.717000	0.68446	2.668000	0.90789	0.655000	0.94253	CAC		0.338	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	Missense_Mutation	10	45	0	0	0	1	0	10	45				
NBPF10	100132406	broad.mit.edu	37	1	145325997	145325997	+	Silent	SNP	A	A	G	rs199988926	byFrequency	TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:145325997A>G	ENST00000342960.5	+	30	3905	c.3870A>G	c.(3868-3870)caA>caG	p.Q1290Q	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	633						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGTCTTGCAAGACTCACTGG	0.468													.|||	70	0.0139776	0.0083	0.0245	5008	,	,		19189	0.0089		0.0239	False		,,,				2504	0.0092					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3868-3870)caA>caG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145325997A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3870A>G	1.37:g.145325997A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.Q1290Q	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	30	3905	+	all_hematologic(923;0.032)		1290					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.3870A>G	CCDS53355.1																																																																																				0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	85	0	0	0	1	0	4	85				
EFEMP1	2202	broad.mit.edu	37	2	56104957	56104957	+	Silent	SNP	G	G	A	rs139930646		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:56104957G>A	ENST00000394555.2	-	6	1119	c.684C>T	c.(682-684)tgC>tgT	p.C228C	EFEMP1_ENST00000394554.1_Silent_p.C228C|EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Silent_p.C228C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	228	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTGTATTCACGCATCTTTGGT	0.423																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(682-684)tgC>tgT		EGF containing fibulin-like extracellular matrix protein 1		G	,	1,4405	2.1+/-5.4	0,1,2202	202.0	188.0	193.0		684,684	-8.9	0.5	2	dbSNP_134	193	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EFEMP1	NM_001039348.2,NM_001039349.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	228/494,228/494	56104957	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56104957G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.684C>T	2.37:g.56104957G>A						EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Silent_p.C228C|EFEMP1_ENST00000394554.1_Silent_p.C228C	p.C228C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		6	1119	-			228			EGF-like 3; calcium-binding (Potential).		A8K3I4|B4DW75|D6W5D2|Q541U7	Silent	SNP	ENST00000394555.2	37	c.684C>T	CCDS1857.1																																																																																				0.423	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			23	92	0	0	0	1	0	23	92				
ZNF157	7712	broad.mit.edu	37	X	47272505	47272505	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272505C>G	ENST00000377073.3	+	4	1119	c.1033C>G	c.(1033-1035)Ctc>Gtc	p.L345V		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	345					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAAGATGACTCTCAATAATCA	0.423																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1033-1035)Ctc>Gtc		zinc finger protein 157							42.0	38.0	39.0					X																	47272505		2203	4299	6502	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272505C>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1033C>G	X.37:g.47272505C>G	ENSP00000366273:p.Leu345Val						p.L345V	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1119	+			345					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1033C>G	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696121	0.48202	.	.	ENSG00000147117	ENST00000377073	T	0.52983	0.64	3.18	3.18	0.36537	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.70219	0.3199	M	0.87758	2.905	0.24798	N	0.992711	D	0.71674	0.998	D	0.73380	0.98	T	0.60058	-0.7337	9	0.72032	D	0.01	.	11.5016	0.50441	0.0:1.0:0.0:0.0	.	345	P51786	ZN157_HUMAN	V	345	ENSP00000366273:L345V	ENSP00000366273:L345V	L	+	1	0	ZNF157	47157449	0.973000	0.33851	0.295000	0.24960	0.996000	0.88848	2.333000	0.43912	1.846000	0.53633	0.600000	0.82982	CTC		0.423	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		7	25	0	0	0	1	0	7	25				
PDZD2	23037	broad.mit.edu	37	5	32052789	32052789	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr5:32052789C>T	ENST00000438447.1	+	9	2126	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	PDZD2_ENST00000282493.3_Missense_Mutation_p.R580W			O15018	PDZD2_HUMAN	PDZ domain containing 2	580					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGGCTCATTCGGCCATCCGT	0.483																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(1738-1740)Cgg>Tgg		PDZ domain containing 2							168.0	158.0	161.0					5																	32052789		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32052789C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1738C>T	5.37:g.32052789C>T	ENSP00000402033:p.Arg580Trp					PDZD2_ENST00000282493.3_Missense_Mutation_p.R580W	p.R580W			O15018	PDZD2_HUMAN			9	2126	+			580					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1738C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839616	0.51057	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.39056	1.1;1.1	5.57	4.7	0.59300	PDZ/DHR/GLGF (1);	0.000000	0.37095	N	0.002248	T	0.47801	0.1465	N	0.19112	0.55	0.39687	D	0.970987	D;D	0.89917	1.0;1.0	D;D	0.73708	0.919;0.981	T	0.55042	-0.8202	10	0.87932	D	0	.	12.1985	0.54311	0.0:0.9176:0.0:0.0824	.	406;580	B4E3P2;O15018	.;PDZD2_HUMAN	W	580;399;580	ENSP00000402033:R580W;ENSP00000282493:R580W	ENSP00000282493:R580W	R	+	1	2	PDZD2	32088546	1.000000	0.71417	0.696000	0.30242	0.011000	0.07611	7.199000	0.77831	1.363000	0.46019	-0.136000	0.14681	CGG		0.483	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			4	127	0	0	0	1	0	4	127				
ITGAL	3683	broad.mit.edu	37	16	30518157	30518157	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr16:30518157C>T	ENST00000356798.6	+	21	2668	c.2488C>T	c.(2488-2490)Cgc>Tgc	p.R830C	ITGAL_ENST00000433423.2_Intron|MIR4518_ENST00000580665.1_RNA|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	830					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	ACTCTCCTTCCGCAAGGTGGA	0.607																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2488-2490)Cgc>Tgc		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						110.0	107.0	108.0					16																	30518157		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30518157C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2488C>T	16.37:g.30518157C>T	ENSP00000349252:p.Arg830Cys					ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C	p.R830C	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			21	2668	+			830					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2488C>T	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	c	18.18	3.566240	0.65651	.	.	ENSG00000005844	ENST00000356798;ENST00000358164	T;T	0.48836	0.8;0.8	5.2	2.99	0.34606	Integrin alpha-2 (1);	0.000000	0.39341	N	0.001386	T	0.62998	0.2474	M	0.80847	2.515	0.80722	D	1	D;D	0.67145	0.996;0.992	P;P	0.58660	0.843;0.843	T	0.68969	-0.5269	10	0.87932	D	0	.	11.3024	0.49314	0.342:0.658:0.0:0.0	.	746;830	Q96HB1;P20701	.;ITAL_HUMAN	C	830;746	ENSP00000349252:R830C;ENSP00000350886:R746C	ENSP00000349252:R830C	R	+	1	0	ITGAL	30425658	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	1.680000	0.37607	1.180000	0.42898	0.437000	0.28790	CGC		0.607	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			26	98	0	0	0	1	0	26	98				
ZNF157	7712	broad.mit.edu	37	X	47271775	47271775	+	Silent	SNP	C	C	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47271775C>G	ENST00000377073.3	+	4	389	c.303C>G	c.(301-303)ctC>ctG	p.L101L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	101					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						aaggatctctctcactgctgt	0.378																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(301-303)ctC>ctG		zinc finger protein 157							112.0	94.0	100.0					X																	47271775		2203	4300	6503	SO:0001819	synonymous_variant	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47271775C>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.303C>G	X.37:g.47271775C>G							p.L101L	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	389	+			101					Q96LE9	Silent	SNP	ENST00000377073.3	37	c.303C>G	CCDS14278.1																																																																																				0.378	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		11	22	0	0	0	1	0	11	22				
HMG20B	10362	broad.mit.edu	37	19	3573797	3573797	+	Splice_Site	SNP	A	A	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:3573797A>T	ENST00000333651.6	+	3	221	c.146A>T	c.(145-147)gAg>gTg	p.E49V	HMG20B_ENST00000585741.1_3'UTR|MFSD12_ENST00000591878.1_5'Flank	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	49					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGAGGAGGAGGTGAGAGTC	0.711																																						ENST00000333651.6																			0				cervix(1)	1						c.e3+1		high mobility group 20B							9.0	14.0	13.0					19																	3573797		1925	4095	6020	SO:0001630	splice_region_variant	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3573797A>T	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.147+1A>T	19.37:g.3573797A>T						HMG20B_ENST00000585741.1_3'UTR	p.E49_splice	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	3	221	+		Hepatocellular(1079;0.137)	49					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Splice_Site	SNP	ENST00000333651.6	37	c.147_splice	CCDS45919.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.328636	0.60743	.	.	ENSG00000064961	ENST00000416526;ENST00000333651;ENST00000417382;ENST00000453933;ENST00000262949	T;T;D;D	0.90444	-1.42;-0.43;-2.67;-1.64	2.63	2.63	0.31362	.	0.239294	0.33253	U	0.005103	D	0.90345	0.6979	L	0.32530	0.975	0.35391	D	0.790764	D;D;P	0.67145	0.981;0.996;0.952	P;D;P	0.77557	0.617;0.99;0.521	D	0.90643	0.4576	10	0.54805	T	0.06	-24.2427	7.029	0.24956	1.0:0.0:0.0:0.0	.	49;49;49	A8K0D5;B5MDG7;Q9P0W2	.;.;HM20B_HUMAN	V	49	ENSP00000410924:E49V;ENSP00000328269:E49V;ENSP00000393904:E49V;ENSP00000402877:E49V	ENSP00000262949:E49V	E	+	2	0	HMG20B	3524797	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.348000	0.52209	1.216000	0.43427	0.260000	0.18958	GAG		0.711	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339	Missense_Mutation	6	24	0	0	0	1	0	6	24				
PRUNE2	158471	broad.mit.edu	37	9	79322279	79322279	+	Silent	SNP	T	T	C			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr9:79322279T>C	ENST00000376718.3	-	8	5034	c.4911A>G	c.(4909-4911)ttA>ttG	p.L1637L	PRUNE2_ENST00000428286.1_Silent_p.L1278L	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1637					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGGACTGGATAAAGAGGAAA	0.368																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(3832-3834)ttA>ttG		prune homolog 2 (Drosophila)							54.0	47.0	49.0					9																	79322279		1568	3582	5150	SO:0001819	synonymous_variant	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79322279T>C	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4911A>G	9.37:g.79322279T>C						PRUNE2_ENST00000376718.3_Silent_p.L1637L	p.L1278L			Q8WUY3	PRUN2_HUMAN			8	5034	-			1637					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	c.3834A>G	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	T	1.864	-0.461978	0.04508	.	.	ENSG00000106772	ENST00000426088	.	.	.	5.91	0.605	0.17553	.	.	.	.	.	T	0.54255	0.1847	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42716	-0.9435	4	.	.	.	-5.3206	7.491	0.27462	0.0:0.1901:0.1098:0.7001	.	.	.	.	V	959	.	.	I	-	1	0	PRUNE2	78512099	1.000000	0.71417	0.981000	0.43875	0.416000	0.31233	1.011000	0.29911	-0.089000	0.12484	-1.139000	0.01908	ATC		0.368	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		3	45	0	0	0	1	0	3	45				
DIDO1	11083	broad.mit.edu	37	20	61511439	61511439	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr20:61511439G>A	ENST00000266070.4	-	16	6194	c.5869C>T	c.(5869-5871)Cca>Tca	p.P1957S	DIDO1_ENST00000395343.1_Missense_Mutation_p.P1957S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1957	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGGGACCTGGCATAAAGTTA	0.587																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5869-5871)Cca>Tca		death inducer-obliterator 1							116.0	137.0	130.0					20																	61511439		2203	4299	6502	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511439G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5869C>T	20.37:g.61511439G>A	ENSP00000266070:p.Pro1957Ser					DIDO1_ENST00000395343.1_Missense_Mutation_p.P1957S	p.P1957S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6194	-	Breast(26;5.68e-08)		1957			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5869C>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556683	0.27827	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09073	3.02;3.02	4.85	3.87	0.44632	.	0.172654	0.27705	N	0.018184	T	0.09113	0.0225	L	0.57536	1.79	0.36017	D	0.838476	P	0.38922	0.651	B	0.30943	0.122	T	0.26018	-1.0115	10	0.33940	T	0.23	-12.0382	13.7283	0.62771	0.0:0.2948:0.7052:0.0	.	1957	Q9BTC0	DIDO1_HUMAN	S	1957	ENSP00000266070:P1957S;ENSP00000378752:P1957S	ENSP00000266070:P1957S	P	-	1	0	DIDO1	60981884	0.988000	0.35896	0.966000	0.40874	0.124000	0.20399	2.352000	0.44080	1.105000	0.41606	0.561000	0.74099	CCA		0.587	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	184	0	0	0	1	0	4	184				
PRPF4B	8899	broad.mit.edu	37	6	4032911	4032911	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr6:4032911C>G	ENST00000337659.6	+	2	1260	c.1160C>G	c.(1159-1161)tCt>tGt	p.S387C	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S373C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	387	Arg/Lys-rich (basic).				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CGGACACTGTCTCCTGGGAGA	0.448																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1159-1161)tCt>tGt		pre-mRNA processing factor 4B							74.0	82.0	79.0					6																	4032911		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4032911C>G	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1160C>G	6.37:g.4032911C>G	ENSP00000337194:p.Ser387Cys					PRPF4B_ENST00000538861.1_Missense_Mutation_p.S373C	p.S387C	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	1260	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	387			Arg/Lys-rich (basic).		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1160C>G	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.017177	0.54576	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.70282	-0.46;-0.47	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000003	T	0.74298	0.3698	L	0.48642	1.525	0.80722	D	1	D	0.69078	0.997	P	0.58577	0.841	T	0.76575	-0.2909	10	0.87932	D	0	.	19.733	0.96192	0.0:1.0:0.0:0.0	.	387	Q13523	PRP4B_HUMAN	C	387;373	ENSP00000337194:S387C;ENSP00000439331:S373C	ENSP00000337194:S387C	S	+	2	0	PRPF4B	3977910	1.000000	0.71417	0.990000	0.47175	0.219000	0.24729	5.545000	0.67237	2.665000	0.90641	0.585000	0.79938	TCT		0.448	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			8	64	0	0	0	1	0	8	64				
CD79A	973	broad.mit.edu	37	19	42383245	42383245	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:42383245G>T	ENST00000221972.3	+	2	450	c.265G>T	c.(265-267)Ggt>Tgt	p.G89C	CD79A_ENST00000444740.2_Splice_Site_p.E89*	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	89	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GGACCCCAATGGTACGCTGAT	0.602			"""O, S"""		DLBCL																																	ENST00000221972.3				Dom	yes		19	19q13.2	973	"""O, S"""	"""CD79a molecule, immunoglobulin-associated alpha"""			L			DLBCL		0				large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(265-267)Ggt>Tgt		CD79a molecule, immunoglobulin-associated alpha							92.0	81.0	85.0					19																	42383245		2203	4300	6503	SO:0001583	missense	0				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42383245G>T	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.265G>T	19.37:g.42383245G>T	ENSP00000221972:p.Gly89Cys					CD79A_ENST00000444740.2_Splice_Site_p.E89_splice	p.G89C	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN			2	450	+			89			Ig-like C2-type.		A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	c.265G>T	CCDS12589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.076714|4.076714	0.76415|0.76415	.|.	.|.	ENSG00000105369|ENSG00000105369	ENST00000444740|ENST00000221972	.|T	.|0.69435	.|-0.4	5.06|5.06	2.95|2.95	0.34219|0.34219	.|Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.161453	.|0.37348	.|N	.|0.002139	.|T	.|0.77438	.|0.4130	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	.|T	.|0.81302	.|-0.0994	.|8	0.30854|0.52906	T|T	0.27|0.07	-25.8835|-25.8835	7.6002|7.6002	0.28071|0.28071	0.1873:0.0:0.8127:0.0|0.1873:0.0:0.8127:0.0	.|.	.|89	.|P11912	.|CD79A_HUMAN	X|C	89|89	.|ENSP00000221972:G89C	ENSP00000400605:E89X|ENSP00000221972:G89C	E|G	+|+	1|1	0|0	CD79A|CD79A	47075085|47075085	0.492000|0.492000	0.26027|0.26027	0.022000|0.022000	0.16811|0.16811	0.013000|0.013000	0.08279|0.08279	1.542000|1.542000	0.36137|0.36137	0.860000|0.860000	0.35481|0.35481	0.650000|0.650000	0.86243|0.86243	GAG|GGT		0.602	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			7	53	1	0	2.0095e-06	1	2.14808e-06	7	53				
COL5A1	1289	broad.mit.edu	37	9	137593107	137593107	+	Silent	SNP	C	C	T	rs563191799		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr9:137593107C>T	ENST00000371817.3	+	4	996	c.582C>T	c.(580-582)agC>agT	p.S194S	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	194	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCGACCGCAGCGACCACCCCA	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		20096	0.0		0.0	False		,,,				2504	0.001					ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(580-582)agC>agT		collagen, type V, alpha 1							170.0	124.0	140.0					9																	137593107		2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137593107C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.582C>T	9.37:g.137593107C>T						COL5A1_ENST00000464187.1_3'UTR	p.S194S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	4	996	+		Myeloproliferative disorder(178;0.0341)	194			Laminin G-like.|TSP N-terminal.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.582C>T	CCDS6982.1																																																																																				0.522	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		7	27	0	0	0	1	0	7	27				
CDC25B	994	broad.mit.edu	37	20	3782946	3782946	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr20:3782946T>A	ENST00000245960.5	+	11	1814	c.1117T>A	c.(1117-1119)Tca>Aca	p.S373T	CDC25B_ENST00000439880.2_Missense_Mutation_p.S359T|CDC25B_ENST00000344256.6_Missense_Mutation_p.S309T|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.S332T|CDC25B_ENST00000379598.5_Missense_Mutation_p.S282T	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	373					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CGTCCTCCGCTCAAAATCACT	0.587																																						ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1117-1119)Tca>Aca		cell division cycle 25B							65.0	62.0	63.0					20																	3782946		2203	4300	6503	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3782946T>A		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1117T>A	20.37:g.3782946T>A	ENSP00000245960:p.Ser373Thr					CDC25B_ENST00000344256.6_Missense_Mutation_p.S309T|CDC25B_ENST00000439880.2_Missense_Mutation_p.S359T|CDC25B_ENST00000340833.4_Missense_Mutation_p.S332T|CDC25B_ENST00000379598.5_Missense_Mutation_p.S282T|CDC25B_ENST00000467519.1_3'UTR	p.S373T	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			11	1814	+			373					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1117T>A	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641809	0.47153	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	4.81	4.81	0.61882	.	0.308797	0.30667	N	0.009122	T	0.36608	0.0973	L	0.51422	1.61	0.80722	D	1	P;P;P;B;P;P	0.46512	0.74;0.879;0.74;0.386;0.695;0.835	P;P;P;B;P;P	0.54270	0.642;0.747;0.642;0.383;0.51;0.642	T	0.04737	-1.0930	10	0.36615	T	0.2	-28.8054	12.6655	0.56840	0.0:0.0:0.0:1.0	.	282;295;309;332;359;373	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	T	309;282;373;359;332	ENSP00000339125:S309T;ENSP00000368918:S282T;ENSP00000245960:S373T;ENSP00000405972:S359T;ENSP00000339170:S332T	ENSP00000245960:S373T	S	+	1	0	CDC25B	3730946	1.000000	0.71417	0.994000	0.49952	0.624000	0.37722	5.109000	0.64615	1.953000	0.56701	0.456000	0.33151	TCA		0.587	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		20	76	0	0	0	1	0	20	76				
GBF1	8729	broad.mit.edu	37	10	104140416	104140416	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr10:104140416G>T	ENST00000369983.3	+	38	5403	c.5143G>T	c.(5143-5145)Gaa>Taa	p.E1715*		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1715					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTACGAGATGAACTCTTCAA	0.567																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(5143-5145)Gaa>Taa		golgi brefeldin A resistant guanine nucleotide exchange factor 1							209.0	229.0	222.0					10																	104140416		2203	4300	6503	SO:0001587	stop_gained	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140416G>T	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.5143G>T	10.37:g.104140416G>T	ENSP00000359000:p.Glu1715*						p.E1715*	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	38	5403	+		Colorectal(252;0.0236)	1715					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Nonsense_Mutation	SNP	ENST00000369983.3	37	c.5143G>T	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	G	45	11.930526	0.99618	.	.	ENSG00000107862	ENST00000369983	.	.	.	5.91	5.91	0.95273	.	0.104523	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.7957	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	1715	.	ENSP00000359000:E1715X	E	+	1	0	GBF1	104130406	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.692000	0.98682	2.793000	0.96121	0.655000	0.94253	GAA		0.567	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			37	223	1	0	5.71845e-15	1	6.44625e-15	37	223				
YKT6	10652	broad.mit.edu	37	7	44250637	44250637	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr7:44250637T>A	ENST00000223369.2	+	6	562	c.475T>A	c.(475-477)Tct>Act	p.S159T	YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Intron	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN	YKT6 v-SNARE homolog (S. cerevisiae)	159	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				ER to Golgi vesicle-mediated transport (GO:0006888)|metabolic process (GO:0008152)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle docking involved in exocytosis (GO:0006904)|vesicle targeting (GO:0006903)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|SNARE complex (GO:0031201)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						CACCATGGAGTCTCTGTTAGA	0.478																																						ENST00000223369.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7						c.(475-477)Tct>Act		YKT6 v-SNARE homolog (S. cerevisiae)							109.0	107.0	108.0					7																	44250637		2203	4300	6503	SO:0001583	missense	10652				ER to Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi|vesicle docking involved in exocytosis|vesicle targeting	cytoplasmic vesicle membrane|cytosol|endoplasmic reticulum|endosome|Golgi membrane|integral to plasma membrane|mitochondrion|SNARE complex	protein-cysteine S-palmitoleyltransferase activity|SNAP receptor activity	g.chr7:44250637T>A	BC007319	CCDS5482.1	7p13	2006-07-07			ENSG00000106636	ENSG00000106636			16959	protein-coding gene	gene with protein product	"""R-SNARE"""	606209				15479160, 15544955	Standard	NM_006555		Approved		uc003tkm.3	O15498	OTTHUMG00000129089	ENST00000223369.2:c.475T>A	7.37:g.44250637T>A	ENSP00000223369:p.Ser159Thr					YKT6_ENST00000447123.1_3'UTR|YKT6_ENST00000496112.1_Intron	p.S159T	NM_006555.3	NP_006546.1	O15498	YKT6_HUMAN			6	562	+			159			v-SNARE coiled-coil homology.		B4DR94|Q53F01|Q6FGU9|Q6IB15	Missense_Mutation	SNP	ENST00000223369.2	37	c.475T>A	CCDS5482.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449568	0.63178	.	.	ENSG00000106636	ENST00000223369	T	0.43294	0.95	5.27	5.27	0.74061	Synaptobrevin (2);	0.112667	0.64402	D	0.000010	T	0.53481	0.1799	M	0.87827	2.91	0.54753	D	0.999988	B	0.25390	0.125	B	0.33339	0.162	T	0.59429	-0.7456	10	0.87932	D	0	-0.0825	12.7419	0.57257	0.0:0.0:0.0:1.0	.	159	O15498	YKT6_HUMAN	T	159	ENSP00000223369:S159T	ENSP00000223369:S159T	S	+	1	0	YKT6	44217162	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.682000	0.68182	1.997000	0.58415	0.533000	0.62120	TCT		0.478	YKT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251125.2	NM_006555		10	49	0	0	0	1	0	10	49				
OAS3	4940	broad.mit.edu	37	12	113376377	113376377	+	Silent	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr12:113376377C>T	ENST00000228928.7	+	1	221	c.42C>T	c.(40-42)ttC>ttT	p.F14F	OAS3_ENST00000548514.1_Silent_p.F14F|OAS3_ENST00000546638.1_3'UTR|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.F14F	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	14	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						TGGACAGGTTCGTGGCCAGAA	0.726																																						ENST00000228928.7																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						c.(40-42)ttC>ttT		2'-5'-oligoadenylate synthetase 3, 100kDa							12.0	14.0	13.0					12																	113376377		1792	3988	5780	SO:0001819	synonymous_variant	4940				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113376377C>T	AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.42C>T	12.37:g.113376377C>T						OAS3_ENST00000546638.1_3'UTR|OAS3_ENST00000548514.1_Silent_p.F14F|RP1-71H24.1_ENST00000552784.1_RNA|OAS3_ENST00000551007.1_Silent_p.F14F	p.F14F	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN			1	221	+			14			OAS domain 1.		Q2HJ14|Q9H3P5	Silent	SNP	ENST00000228928.7	37	c.42C>T	CCDS44981.1																																																																																				0.726	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405920.1			4	20	0	0	0	1	0	4	20				
KIAA1211	57482	broad.mit.edu	37	4	57182747	57182747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr4:57182747C>T	ENST00000504228.1	+	6	3184	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.Q1020*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q1027*			Q6ZU35	K1211_HUMAN	KIAA1211	1027										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGAAGGGACAGAAGAGGGA	0.652																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(3079-3081)Cag>Tag		KIAA1211							17.0	21.0	19.0					4																	57182747		1993	4159	6152	SO:0001587	stop_gained	57482							g.chr4:57182747C>T	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3079C>T	4.37:g.57182747C>T	ENSP00000423366:p.Gln1027*					KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.Q1020*|KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.Q1027*	p.Q1027*			Q6ZU35	K1211_HUMAN			6	3184	+	Glioma(25;0.08)|all_neural(26;0.101)		1027					Q9NTE2|Q9NTP8|Q9ULK9	Nonsense_Mutation	SNP	ENST00000504228.1	37	c.3079C>T	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	41	9.054478	0.99050	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	.	.	.	4.63	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-3.2072	10.7794	0.46369	0.1899:0.8101:0.0:0.0	.	.	.	.	X	1027;1027;1020	.	ENSP00000264229:Q1027X	Q	+	1	0	KIAA1211	56877504	0.003000	0.15002	0.073000	0.20177	0.461000	0.32589	1.033000	0.30191	1.237000	0.43756	0.561000	0.74099	CAG		0.652	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	13	0	0	0	1	0	3	13				
ZNF157	7712	broad.mit.edu	37	X	47272698	47272698	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272698C>T	ENST00000377073.3	+	4	1312	c.1226C>T	c.(1225-1227)tCa>tTa	p.S409L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	409					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGGATGCATTCAGGAGAGAAA	0.413																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1225-1227)tCa>tTa		zinc finger protein 157							66.0	60.0	62.0					X																	47272698		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272698C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1226C>T	X.37:g.47272698C>T	ENSP00000366273:p.Ser409Leu						p.S409L	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1312	+			409					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1226C>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105027	0.77096	.	.	ENSG00000147117	ENST00000377073	T	0.18960	2.18	3.29	3.29	0.37713	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24392	0.0591	L	0.42245	1.32	0.31601	N	0.652647	P	0.47841	0.901	P	0.46917	0.531	T	0.23119	-1.0197	9	0.87932	D	0	.	11.7365	0.51767	0.0:1.0:0.0:0.0	.	409	P51786	ZN157_HUMAN	L	409	ENSP00000366273:S409L	ENSP00000366273:S409L	S	+	2	0	ZNF157	47157642	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	1.906000	0.55180	0.600000	0.82982	TCA		0.413	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		9	26	0	0	0	1	0	9	26				
ATG9A	79065	broad.mit.edu	37	2	220087403	220087403	+	Silent	SNP	G	G	C			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:220087403G>C	ENST00000409618.1	-	11	2251	c.1812C>G	c.(1810-1812)ctC>ctG	p.L604L	ATG9A_ENST00000361242.4_Silent_p.L604L|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000396761.2_Silent_p.L604L|ATG9A_ENST00000409422.1_Silent_p.L543L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	604					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGACGTAAAGAGGGCATTTT	0.567																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(1810-1812)ctC>ctG		autophagy related 9A							171.0	179.0	176.0					2																	220087403		2051	4200	6251	SO:0001819	synonymous_variant	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220087403G>C	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1812C>G	2.37:g.220087403G>C						ATG9A_ENST00000409422.1_Silent_p.L543L|ATG9A_ENST00000361242.4_Silent_p.L604L|ATG9A_ENST00000396761.2_Silent_p.L604L	p.L604L			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	2251	-		Renal(207;0.0474)	604					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Silent	SNP	ENST00000409618.1	37	c.1812C>G	CCDS42820.1																																																																																				0.567	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		19	113	0	0	0	1	0	19	113				
PGM1	5236	broad.mit.edu	37	1	64104431	64104431	+	Silent	SNP	G	G	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:64104431G>A	ENST00000371084.3	+	7	1317	c.1104G>A	c.(1102-1104)gcG>gcA	p.A368A	PGM1_ENST00000540265.1_Silent_p.A171A|PGM1_ENST00000371083.4_Silent_p.A386A	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	368					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGATGGACGCGAGCAAACTGT	0.468																																						ENST00000371083.4																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(1156-1158)gcG>gcA		phosphoglucomutase 1							167.0	159.0	162.0					1																	64104431		2203	4300	6503	SO:0001819	synonymous_variant	5236				cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	g.chr1:64104431G>A	BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.1104G>A	1.37:g.64104431G>A						PGM1_ENST00000371084.3_Silent_p.A368A|PGM1_ENST00000540265.1_Silent_p.A171A	p.A386A	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN			7	1526	+			368					B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Silent	SNP	ENST00000371084.3	37	c.1158G>A	CCDS625.1																																																																																				0.468	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024868.1	NM_002633		10	96	0	0	0	1	0	10	96				
ZNF157	7712	broad.mit.edu	37	X	47272569	47272569	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272569C>A	ENST00000377073.3	+	4	1183	c.1097C>A	c.(1096-1098)tCt>tAt	p.S366Y		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	366					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTGGGAAATCTTTCAGGGTG	0.408																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1096-1098)tCt>tAt		zinc finger protein 157							50.0	44.0	46.0					X																	47272569		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272569C>A	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1097C>A	X.37:g.47272569C>A	ENSP00000366273:p.Ser366Tyr						p.S366Y	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1183	+			366					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1097C>A	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924838	0.34002	.	.	ENSG00000147117	ENST00000377073	T	0.08370	3.1	3.29	2.42	0.29668	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10937	0.0267	M	0.70275	2.135	0.19775	N	0.999959	P	0.37423	0.594	B	0.38296	0.27	T	0.23904	-1.0175	9	0.66056	D	0.02	.	4.141	0.10193	0.0:0.623:0.2379:0.1392	.	366	P51786	ZN157_HUMAN	Y	366	ENSP00000366273:S366Y	ENSP00000366273:S366Y	S	+	2	0	ZNF157	47157513	0.000000	0.05858	0.127000	0.21898	0.933000	0.57130	-0.094000	0.11094	0.773000	0.33404	-0.192000	0.12808	TCT		0.408	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		14	27	1	0	2.31682e-05	1	2.43463e-05	14	27				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	0							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	69	0	0	0	1	0	4	69				
PCDHGA7	56108	broad.mit.edu	37	5	140763752	140763752	+	Missense_Mutation	SNP	C	C	T	rs371979287		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr5:140763752C>T	ENST00000518325.1	+	1	1286	c.1286C>T	c.(1285-1287)aCt>aTt	p.T429I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTGGAACTCCTCCCTTG	0.448																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(1285-1287)aCt>aTt									48.0	52.0	51.0					5																	140763752		1992	4181	6173	SO:0001583	missense	0							g.chr5:140763752C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1286C>T	5.37:g.140763752C>T	ENSP00000430024:p.Thr429Ile					PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron	p.T429I	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1286	+								B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1286C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	0.883	-0.728030	0.03135	.	.	ENSG00000253537	ENST00000518325	T	0.01821	4.62	5.39	-6.27	0.02026	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01523	0.0049	L	0.43701	1.375	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.18561	0.022;0.005	T	0.45614	-0.9249	9	0.40728	T	0.16	.	1.9461	0.03357	0.161:0.3998:0.1677:0.2715	.	429;429	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	I	429	ENSP00000430024:T429I	ENSP00000430024:T429I	T	+	2	0	PCDHGA7	140743936	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.171000	0.03115	-1.619000	0.01566	-0.813000	0.03139	ACT		0.448	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		7	51	0	0	0	1	0	7	51				
KLK3	354	broad.mit.edu	37	19	51361464	51361464	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:51361464C>T	ENST00000326003.2	+	3	427	c.386C>T	c.(385-387)cCt>cTt	p.P129L	KLK3_ENST00000595952.1_Missense_Mutation_p.P86L|KLK3_ENST00000593997.1_Missense_Mutation_p.P129L|KLK3_ENST00000597483.1_Missense_Mutation_p.P86L|KLK3_ENST00000360617.3_Missense_Mutation_p.P129L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CTGTCAGAGCCTGCCGAGCTC	0.612																																					Colon(185;1767 2023 13025 30120 37630)	ENST00000360617.3																			0				breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(385-387)cCt>cTt		kallikrein-related peptidase 3							74.0	63.0	67.0					19																	51361464		2203	4300	6503	SO:0001583	missense	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361464C>T	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.386C>T	19.37:g.51361464C>T	ENSP00000314151:p.Pro129Leu					KLK3_ENST00000595952.1_Missense_Mutation_p.P86L|KLK3_ENST00000597483.1_Missense_Mutation_p.P86L|KLK3_ENST00000593997.1_Missense_Mutation_p.P129L|KLK3_ENST00000326003.2_Missense_Mutation_p.P129L	p.P129L			P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	386	+		all_neural(266;0.057)	129			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Missense_Mutation	SNP	ENST00000326003.2	37	c.386C>T	CCDS12807.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464894	0.43839	.	.	ENSG00000142515	ENST00000326003;ENST00000422986;ENST00000360617	T;T	0.09911	2.93;2.93	2.31	1.25	0.21368	.	0.199703	0.25143	N	0.032806	T	0.31231	0.0790	M	0.87456	2.885	0.24791	N	0.992751	D;D	0.89917	1.0;0.987	D;P	0.75484	0.986;0.777	T	0.03784	-1.1004	10	0.87932	D	0	.	7.002	0.24815	0.0:0.8466:0.0:0.1534	.	129;86	G3XAE3;G3V0H4	.;.	L	129;86;129	ENSP00000314151:P129L;ENSP00000353829:P129L	ENSP00000314151:P129L	P	+	2	0	KLK3	56053276	0.023000	0.18921	0.002000	0.10522	0.002000	0.02628	3.230000	0.51286	0.507000	0.28148	0.505000	0.49811	CCT		0.612	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1	NM_145864		10	45	0	0	0	1	0	10	45				
ZNF157	7712	broad.mit.edu	37	X	47272265	47272265	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272265C>T	ENST00000377073.3	+	4	879	c.793C>T	c.(793-795)Cag>Tag	p.Q265*		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	265					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CACGATTCATCAGAGAACTCA	0.433																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(793-795)Cag>Tag		zinc finger protein 157							52.0	47.0	49.0					X																	47272265		2203	4300	6503	SO:0001587	stop_gained	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272265C>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.793C>T	X.37:g.47272265C>T	ENSP00000366273:p.Gln265*						p.Q265*	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	879	+			265					Q96LE9	Nonsense_Mutation	SNP	ENST00000377073.3	37	c.793C>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799818	0.70567	.	.	ENSG00000147117	ENST00000377073	.	.	.	3.0	3.0	0.34707	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	11.1858	0.48655	0.0:1.0:0.0:0.0	.	.	.	.	X	265	.	ENSP00000366273:Q265X	Q	+	1	0	ZNF157	47157209	0.000000	0.05858	0.991000	0.47740	0.831000	0.47069	0.201000	0.17276	1.766000	0.52107	0.600000	0.82982	CAG		0.433	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		7	21	0	0	0	1	0	7	21				
MYH15	22989	broad.mit.edu	37	3	108117615	108117615	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr3:108117615G>A	ENST00000273353.3	-	36	5118	c.5062C>T	c.(5062-5064)Cgg>Tgg	p.R1688W		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1688						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAGTTGCGCCGCTCAGCCACA	0.542																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(5062-5064)Cgg>Tgg		myosin, heavy chain 15							166.0	171.0	169.0					3																	108117615		2085	4225	6310	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108117615G>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5062C>T	3.37:g.108117615G>A	ENSP00000273353:p.Arg1688Trp						p.R1688W	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			36	5118	-			1688						Missense_Mutation	SNP	ENST00000273353.3	37	c.5062C>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.236895	0.58886	.	.	ENSG00000144821	ENST00000273353	D	0.82167	-1.58	5.5	-4.87	0.03123	Myosin tail (1);	.	.	.	.	D	0.89649	0.6776	M	0.91354	3.2	0.09310	N	1	D	0.76494	0.999	D	0.71414	0.973	T	0.81777	-0.0777	9	0.87932	D	0	.	5.5872	0.17281	0.3958:0.0:0.2415:0.3627	.	1688	Q9Y2K3	MYH15_HUMAN	W	1688	ENSP00000273353:R1688W	ENSP00000273353:R1688W	R	-	1	2	MYH15	109600305	0.520000	0.26250	0.000000	0.03702	0.011000	0.07611	0.443000	0.21644	-0.968000	0.03578	-0.140000	0.14226	CGG		0.542	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		5	223	0	0	0	1	0	5	223				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		8	108	0	0	0	1	0	8	108				
PPT2	9374	broad.mit.edu	37	6	32123649	32123649	+	Splice_Site	SNP	C	C	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr6:32123649C>A	ENST00000324816.6	+	5	1003	c.435C>A	c.(433-435)gaC>gaA	p.D145E	PPT2_ENST00000375143.2_Splice_Site_p.D145E|PPT2_ENST00000445576.2_Splice_Site_p.D145E|PPT2_ENST00000361568.2_Splice_Site_p.D151E|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000395523.1_Splice_Site_p.D145E|PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000422437.1_Splice_Site_p.D145E|PPT2_ENST00000375137.2_Splice_Site_p.D145E|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000437001.2_Splice_Site_p.D22E			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	145					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GCTTGCCAGACACGGACTACT	0.522																																						ENST00000422437.1																			0											c.e5-1									159.0	129.0	140.0					6																	32123649		1511	2709	4220	SO:0001630	splice_region_variant	0							g.chr6:32123649C>A	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.434-1C>A	6.37:g.32123649C>A						PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Splice_Site_p.D151_splice|PPT2_ENST00000375137.2_Splice_Site_p.D145_splice|PPT2_ENST00000324816.6_Splice_Site_p.D145_splice|PPT2_ENST00000445576.2_Splice_Site_p.D145_splice|PPT2_ENST00000375143.2_Splice_Site_p.D145_splice|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000437001.2_Splice_Site_p.D22_splice|PPT2_ENST00000395523.1_Splice_Site_p.D145_splice	p.D145_splice							5	626	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Splice_Site	SNP	ENST00000324816.6	37	c.433_splice	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490149	0.64074	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118	D;D;D;D;D;D;D;D;D	0.96073	-3.37;-3.9;-3.9;-3.9;-3.9;-3.37;-3.9;-3.9;-3.37	5.41	2.64	0.31445	.	0.044726	0.85682	D	0.000000	D	0.91553	0.7332	M	0.79475	2.455	0.80722	D	1	B;B;B	0.24258	0.082;0.1;0.1	B;B;B	0.34038	0.069;0.174;0.174	D	0.87468	0.2412	10	0.29301	T	0.29	.	9.2812	0.37729	0.0:0.7541:0.0:0.2459	.	145;145;151	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	E	145;151;145;145;145;22;145;145;67;145	ENSP00000398847:D145E;ENSP00000354608:D151E;ENSP00000378894:D145E;ENSP00000412381:D145E;ENSP00000320528:D145E;ENSP00000415350:D22E;ENSP00000364279:D145E;ENSP00000364285:D145E;ENSP00000409877:D67E	ENSP00000320528:D145E	D	+	3	2	PPT2	32231627	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.150000	0.42254	0.653000	0.30826	0.557000	0.71058	GAC		0.522	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	Missense_Mutation	12	70	1	0	4.36969e-10	1	4.753e-10	12	70				
LFNG	3955	broad.mit.edu	37	7	2566511	2566511	+	Silent	SNP	C	C	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr7:2566511C>G	ENST00000222725.5	+	7	1049	c.1029C>G	c.(1027-1029)gcC>gcG	p.A343A	LFNG_ENST00000402506.1_Silent_p.A272A|LFNG_ENST00000338732.3_Silent_p.A214A|MIR4648_ENST00000580107.1_RNA|LFNG_ENST00000359574.3_Silent_p.A343A|LFNG_ENST00000402045.1_Silent_p.A214A	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	343					compartment pattern specification (GO:0007386)|female meiotic division (GO:0007143)|metabolic process (GO:0008152)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|ovarian follicle development (GO:0001541)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein binding (GO:0032092)|regulation of Notch signaling pathway (GO:0008593)|regulation of somitogenesis (GO:0014807)|somitogenesis (GO:0001756)	extracellular region (GO:0005576)|integral component of Golgi membrane (GO:0030173)|vesicle (GO:0031982)	metal ion binding (GO:0046872)|O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity (GO:0033829)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AGCGGAACGCCGTCCACGTGA	0.677																																						ENST00000222725.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6						c.(1027-1029)gcC>gcG		LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase							35.0	36.0	35.0					7																	2566511		2203	4300	6503	SO:0001819	synonymous_variant	3955				organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity	g.chr7:2566511C>G	BC014851	CCDS34586.1, CCDS34587.1, CCDS55081.1, CCDS55082.1	7p22.3	2013-02-19	2006-11-13		ENSG00000106003	ENSG00000106003	2.4.1.222	"""Beta 3-glycosyltransferases"""	6560	protein-coding gene	gene with protein product		602576	"""lunatic fringe (Drosophila) homolog"", ""lunatic fringe homolog (Drosophila)"""			9878264, 9187150	Standard	NM_001166355		Approved	SCDO3	uc003smf.3	Q8NES3	OTTHUMG00000152043	ENST00000222725.5:c.1029C>G	7.37:g.2566511C>G						LFNG_ENST00000359574.3_Silent_p.A343A|LFNG_ENST00000338732.3_Silent_p.A214A|LFNG_ENST00000402045.1_Silent_p.A214A|LFNG_ENST00000402506.1_Silent_p.A272A	p.A343A	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)	7	1049	+		Ovarian(82;0.0112)	343					B3KTY6|B5MCR5|O00589|Q96C39|Q9UJW5	Silent	SNP	ENST00000222725.5	37	c.1029C>G	CCDS34587.1																																																																																				0.677	LFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325021.1	NM_002304		5	26	0	0	0	1	0	5	26				
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788.0	697.0	725.0					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		5	898	0	0	0	1	0	5	898				
FPR3	2359	broad.mit.edu	37	19	52327505	52327505	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:52327505T>A	ENST00000339223.4	+	2	683	c.504T>A	c.(502-504)agT>agA	p.S168R	FPR3_ENST00000595991.1_Missense_Mutation_p.S168R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	168					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTACAATAAGTACTACGAATG	0.453																																						ENST00000339223.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(502-504)agT>agA		formyl peptide receptor 3							165.0	151.0	156.0					19																	52327505		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327505T>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.504T>A	19.37:g.52327505T>A	ENSP00000341821:p.Ser168Arg					FPR3_ENST00000595991.1_Missense_Mutation_p.S168R	p.S168R	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN			2	683	+			168						Missense_Mutation	SNP	ENST00000339223.4	37	c.504T>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	0.012	-1.682895	0.00745	.	.	ENSG00000187474	ENST00000339223	T	0.72615	-0.67	2.34	-4.67	0.03319	GPCR, rhodopsin-like superfamily (1);	3.251880	0.00899	N	0.002325	T	0.40067	0.1102	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.15052	0.012	T	0.38457	-0.9660	10	0.14252	T	0.57	.	2.2365	0.04010	0.2674:0.1205:0.4514:0.1607	.	168	P25089	FPR3_HUMAN	R	168	ENSP00000341821:S168R	ENSP00000341821:S168R	S	+	3	2	FPR3	57019317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.735000	0.01847	-2.736000	0.00381	-0.520000	0.04383	AGT		0.453	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		27	106	0	0	0	1	0	27	106				
DVL1	1855	broad.mit.edu	37	1	1277187	1277187	+	Splice_Site	SNP	T	T	C			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:1277187T>C	ENST00000378888.5	-	5	751		c.e5-2		DVL1_ENST00000378891.5_Splice_Site			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1						axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCCGGGCGGCTGTGGGGGCAG	0.687																																						ENST00000378888.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13						c.e5-2		dishevelled segment polarity protein 1							13.0	13.0	13.0					1																	1277187		2187	4281	6468	SO:0001630	splice_region_variant	1855				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	g.chr1:1277187T>C	AF006011	CCDS22.1	1p36	2013-05-22	2013-05-22		ENSG00000107404	ENSG00000107404		"""Dishevelled homologs"""	3084	protein-coding gene	gene with protein product		601365	"""dishevelled 1 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 1 (Drosophila)"""			8817329	Standard	NM_004421		Approved		uc001aer.4	O14640	OTTHUMG00000003069	ENST00000378888.5:c.467-2A>G	1.37:g.1277187T>C						DVL1_ENST00000378891.5_Splice_Site				O14640	DVL1_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	5	751	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)						Q5TA33|Q5TA35	Splice_Site	SNP	ENST00000378888.5	37			.	.	.	.	.	.	.	.	.	.	T	12.94	2.089926	0.36855	.	.	ENSG00000107404	ENST00000378891;ENST00000378888;ENST00000345100	.	.	.	4.02	2.78	0.32641	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1781	0.42950	0.1491:0.0:0.0:0.8509	.	.	.	.	.	-1	.	.	.	-	.	.	DVL1	1267050	1.000000	0.71417	0.476000	0.27291	0.224000	0.24922	4.138000	0.58017	1.822000	0.53115	0.172000	0.16884	.		0.687	DVL1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008490.1	NM_004421	Intron	4	2	0	0	0	1	0	4	2				
RMI1	80010	broad.mit.edu	37	9	86617189	86617189	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr9:86617189A>G	ENST00000325875.3	+	3	1620	c.1288A>G	c.(1288-1290)Acc>Gcc	p.T430A		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	430					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AATAAAACAAACCAGCAGTTC	0.289																																						ENST00000325875.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(1288-1290)Acc>Gcc		RecQ mediated genome instability 1							37.0	45.0	42.0					9																	86617189		2180	4282	6462	SO:0001583	missense	80010				DNA replication	nucleus		g.chr9:86617189A>G	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.1288A>G	9.37:g.86617189A>G	ENSP00000317039:p.Thr430Ala						p.T430A	NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN			3	1620	+			430					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Missense_Mutation	SNP	ENST00000325875.3	37	c.1288A>G	CCDS6669.1	.	.	.	.	.	.	.	.	.	.	A	0.350	-0.945333	0.02304	.	.	ENSG00000178966	ENST00000325875	T	0.30981	1.51	5.21	-3.27	0.05048	.	1.540700	0.03547	N	0.224886	T	0.15652	0.0377	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19321	-1.0309	9	.	.	.	0.8107	6.4948	0.22136	0.3575:0.2471:0.3954:0.0	.	430	Q9H9A7	RMI1_HUMAN	A	430	ENSP00000317039:T430A	.	T	+	1	0	RMI1	85807009	0.000000	0.05858	0.001000	0.08648	0.884000	0.51177	0.690000	0.25451	-0.177000	0.10690	-0.316000	0.08728	ACC		0.289	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		10	54	0	0	0	1	0	10	54				
ZNF844	284391	broad.mit.edu	37	19	12187394	12187394	+	Missense_Mutation	SNP	T	T	C	rs538666859		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr19:12187394T>C	ENST00000439326.3	+	4	1634	c.1459T>C	c.(1459-1461)Ttt>Ctt	p.F487L	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F487L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GCCTTCATTTTTTCCACTTCC	0.448													.|||	1	0.000199681	0.0	0.0	5008	,	,		23892	0.0		0.001	False		,,,				2504	0.0					ENST00000439326.3																			1	Substitution - Missense(1)	p.F487L(1)	prostate(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1459-1461)Ttt>Ctt		zinc finger protein 844							88.0	76.0	80.0					19																	12187394		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187394T>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1459T>C	19.37:g.12187394T>C	ENSP00000392024:p.Phe487Leu					ZNF844_ENST00000441304.2_3'UTR	p.F487L	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1634	+			487					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1459T>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	t	0	-2.727179	0.00091	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.04862	3.54	2.75	-5.5	0.02576	.	.	.	.	.	T	0.01454	0.0047	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34976	-0.9807	9	0.11485	T	0.65	.	1.7468	0.02963	0.1644:0.3872:0.2107:0.2378	.	487	Q08AG5	ZN844_HUMAN	L	487	ENSP00000392024:F487L	ENSP00000392024:F487L	F	+	1	0	ZNF844	12048394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-14.436000	0.00000	-6.151000	0.00006	-3.187000	0.00055	TTT		0.448	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			3	59	0	0	0	1	0	3	59				
PHC1	1911	broad.mit.edu	37	12	9086978	9086978	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr12:9086978G>T	ENST00000543824.1	+	11	2489	c.2157G>T	c.(2155-2157)atG>atT	p.M719I	PHC1_ENST00000433083.2_Missense_Mutation_p.M674I|PHC1_ENST00000536844.1_Missense_Mutation_p.M325I|PHC1_ENST00000544916.1_Missense_Mutation_p.M719I			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	719					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CTAGACAAATGGGTGACTCAA	0.517																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2020-2022)atG>atT		polyhomeotic homolog 1 (Drosophila)							70.0	69.0	69.0					12																	9086978		2203	4293	6496	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9086978G>T	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2157G>T	12.37:g.9086978G>T	ENSP00000440674:p.Met719Ile					PHC1_ENST00000543824.1_Missense_Mutation_p.M719I|PHC1_ENST00000536844.1_Missense_Mutation_p.M325I|PHC1_ENST00000544916.1_Missense_Mutation_p.M719I	p.M674I			P78364	PHC1_HUMAN			9	2167	+			719					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2022G>T	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	4.846	0.157212	0.09236	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.7	3.76	0.43208	.	0.432981	0.26971	N	0.021571	T	0.25494	0.0620	N	0.22421	0.69	0.34242	D	0.677741	B	0.02656	0.0	B	0.01281	0.0	T	0.25222	-1.0138	10	0.21540	T	0.41	-9.2756	8.5004	0.33154	0.0782:0.0:0.7696:0.1522	.	719	P78364	PHC1_HUMAN	I	719;719;674;719;325	ENSP00000440674:M719I;ENSP00000251757:M719I;ENSP00000399194:M674I;ENSP00000437659:M719I;ENSP00000440488:M325I	ENSP00000251757:M719I	M	+	3	0	PHC1	8978245	0.997000	0.39634	0.993000	0.49108	0.013000	0.08279	0.778000	0.26732	1.412000	0.46977	0.655000	0.94253	ATG		0.517	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		17	59	1	0	9.7654e-05	1	0.000100909	17	59				
DDX11	1663	broad.mit.edu	37	12	31236844	31236844	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr12:31236844C>G	ENST00000407793.2	+	3	493	c.242C>G	c.(241-243)aCt>aGt	p.T81S	DDX11_ENST00000228264.6_Missense_Mutation_p.T55S|DDX11_ENST00000542838.1_Missense_Mutation_p.T81S|DDX11_ENST00000251758.5_Missense_Mutation_p.T81S|DDX11_ENST00000350437.4_Missense_Mutation_p.T81S|DDX11_ENST00000545668.1_Missense_Mutation_p.T81S	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	81	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAACTGGAACTGGCCCCTTA	0.547										Multiple Myeloma(12;0.14)																												ENST00000251758.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57						c.(241-243)aCt>aGt		DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11							46.0	55.0	52.0					12																	31236844		2200	4295	6495	SO:0001583	missense	1663				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding	g.chr12:31236844C>G	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.242C>G	12.37:g.31236844C>G	ENSP00000384703:p.Thr81Ser	Multiple Myeloma(12;0.14)				DDX11_ENST00000228264.6_Missense_Mutation_p.T55S|DDX11_ENST00000545668.1_Missense_Mutation_p.T81S|DDX11_ENST00000407793.2_Missense_Mutation_p.T81S|DDX11_ENST00000542838.1_Missense_Mutation_p.T81S|DDX11_ENST00000350437.4_Missense_Mutation_p.T81S	p.T81S			Q96FC9	DDX11_HUMAN			3	493	+	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)		81			Helicase ATP-binding.		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	c.242C>G	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	1.034	-0.680889	0.03353	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437;ENST00000535317	T;T;T;T;T;T;T;T;T	0.57595	4.17;4.17;4.17;4.17;0.39;4.17;4.17;4.17;4.17	4.48	3.5	0.40072	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.948224	0.08936	N	0.872311	T	0.30854	0.0778	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.17268	0.003;0.021;0.006;0.013	B;B;B;B	0.12837	0.005;0.008;0.005;0.006	T	0.12915	-1.0529	10	0.07644	T	0.81	.	9.3167	0.37939	0.0:0.8825:0.0:0.1175	.	81;81;81;81	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	S	81;81;81;55;81;55;81;81;117	ENSP00000443426:T81S;ENSP00000384703:T81S;ENSP00000251758:T81S;ENSP00000228264:T55S;ENSP00000407646:T81S;ENSP00000406457:T55S;ENSP00000440402:T81S;ENSP00000309965:T81S;ENSP00000440171:T117S	ENSP00000228264:T55S	T	+	2	0	DDX11	31128111	0.000000	0.05858	0.004000	0.12327	0.145000	0.21501	0.062000	0.14389	2.330000	0.79161	0.430000	0.28490	ACT		0.547	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653		12	77	0	0	0	1	0	12	77				
PTPRC	5788	broad.mit.edu	37	1	198704261	198704261	+	Silent	SNP	G	G	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:198704261G>A	ENST00000367376.2	+	23	2448	c.2277G>A	c.(2275-2277)aaG>aaA	p.K759K	PTPRC_ENST00000594404.1_Silent_p.K598K|PTPRC_ENST00000442510.2_Silent_p.K761K|PTPRC_ENST00000348564.6_Silent_p.K600K|PTPRC_ENST00000352140.3_Silent_p.K711K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	759	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						tGTAGAACAAGTGTGCAGAAT	0.318																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2275-2277)aaG>aaA		protein tyrosine phosphatase, receptor type, C							59.0	57.0	57.0					1																	198704261		2201	4298	6499	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198704261G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2277G>A	1.37:g.198704261G>A						PTPRC_ENST00000352140.3_Silent_p.K711K|PTPRC_ENST00000442510.2_Silent_p.K761K|PTPRC_ENST00000594404.1_Silent_p.K598K|PTPRC_ENST00000348564.6_Silent_p.K600K	p.K759K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			23	2448	+			759			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2277G>A																																																																																					0.318	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				6	35	0	0	0	1	0	6	35				
SPCS1	28972	broad.mit.edu	37	3	52741717	52741717	+	Silent	SNP	A	A	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr3:52741717A>G	ENST00000602728.1	+	4	367	c.198A>G	c.(196-198)ccA>ccG	p.P66P	GLT8D1_ENST00000491606.1_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|SPCS1_ENST00000423431.1_Silent_p.P44P|GLT8D1_ENST00000478968.2_5'Flank|GLT8D1_ENST00000407584.3_5'Flank|SPCS1_ENST00000233025.7_Silent_p.P133P			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	66					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		CACTTCCTCCATGGCCCATCT	0.413																																						ENST00000233025.7																			0				kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(397-399)ccA>ccG		signal peptidase complex subunit 1 homolog (S. cerevisiae)							99.0	102.0	101.0					3																	52741717		2203	4300	6503	SO:0001819	synonymous_variant	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52741717A>G	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.198A>G	3.37:g.52741717A>G						SPCS1_ENST00000423431.1_Silent_p.P44P|SPCS1_ENST00000602728.1_Silent_p.P66P	p.P133P	NM_014041.3	NP_054760.3	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	4	809	+			133					B3KNF8|Q9BVW1	Silent	SNP	ENST00000602728.1	37	c.399A>G																																																																																					0.413	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	NM_014041		22	119	0	0	0	1	0	22	119				
CNBD1	168975	broad.mit.edu	37	8	87951839	87951839	+	Silent	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr8:87951839C>T	ENST00000518476.1	+	4	339	c.288C>T	c.(286-288)ggC>ggT	p.G96G		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	96										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCAATGAAGGCAAAGAGGAAA	0.338																																						ENST00000518476.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						c.(286-288)ggC>ggT		cyclic nucleotide binding domain containing 1							107.0	104.0	105.0					8																	87951839		1837	4087	5924	SO:0001819	synonymous_variant	168975							g.chr8:87951839C>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.288C>T	8.37:g.87951839C>T							p.G96G	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN			4	339	+			96						Silent	SNP	ENST00000518476.1	37	c.288C>T	CCDS55259.1																																																																																				0.338	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		8	42	0	0	0	1	0	8	42				
LOC81691	81691	broad.mit.edu	37	16	20824580	20824580	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr16:20824580G>T	ENST00000261377.6	+	3	416	c.207G>T	c.(205-207)ttG>ttT	p.L69F	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.L69F|AC004381.6_ENST00000348433.6_Missense_Mutation_p.L69F|AC004381.6_ENST00000567297.1_3'UTR	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TGTGTGAATTGCTGAAGTATG	0.398																																						ENST00000261377.6																			0											c.(205-207)ttG>ttT									77.0	73.0	74.0					16																	20824580		2201	4300	6501	SO:0001583	missense	0							g.chr16:20824580G>T																												ENST00000261377.6:c.207G>T	16.37:g.20824580G>T	ENSP00000261377:p.Leu69Phe					ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.L69F|AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000564274.1_Missense_Mutation_p.L69F	p.L69F	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					3	416	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.207G>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554982	0.65425	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.57907	0.37;0.71	5.56	1.01	0.19927	.	0.149577	0.44285	D	0.000465	T	0.51839	0.1698	M	0.65498	2.005	0.43018	D	0.994561	D;P	0.59767	0.986;0.772	P;B	0.51895	0.683;0.418	T	0.51663	-0.8677	10	0.51188	T	0.08	-10.047	3.03	0.06103	0.1498:0.1142:0.5371:0.1988	.	69;69	Q96IC2-2;Q96IC2	.;REXON_HUMAN	F	69	ENSP00000261378:L69F;ENSP00000261377:L69F	ENSP00000261377:L69F	L	+	3	2	AC004381.6	20732081	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	0.340000	0.19892	0.720000	0.32209	0.561000	0.74099	TTG		0.398	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			3	48	1	0	0.115264	1	0.115264	3	48				
ULK4	54986	broad.mit.edu	37	3	41877429	41877429	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr3:41877429T>C	ENST00000301831.4	-	18	2153	c.1691A>G	c.(1690-1692)aAc>aGc	p.N564S		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	564				AIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794). {ECO:0000305}.	cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GTTCCTGAAGTTTTCCCTAAT	0.358																																						ENST00000301831.4																			0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(1690-1692)aAc>aGc		unc-51 like kinase 4							127.0	124.0	125.0					3																	41877429		1821	4075	5896	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41877429T>C	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.1691A>G	3.37:g.41877429T>C	ENSP00000301831:p.Asn564Ser						p.N564S	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	18	2153	-			564	AIVLLTELIRENFRNSKLKQCLLPTLGE -> TTSSIGIGI LNCLVQHSTPVPRQCLVYV (in Ref. 3; AAH14794).				A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.1691A>G	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109220	0.77096	.	.	ENSG00000168038	ENST00000301831	T	0.55234	0.53	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	U	0.000000	T	0.62368	0.2422	L	0.38175	1.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.983;0.999	T	0.60286	-0.7293	10	0.35671	T	0.21	.	14.0999	0.65049	0.0:0.0:0.0:1.0	.	564;564	B4E2M4;Q96C45	.;ULK4_HUMAN	S	564	ENSP00000301831:N564S	ENSP00000301831:N564S	N	-	2	0	ULK4	41852433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.679000	0.68160	2.204000	0.70986	0.528000	0.53228	AAC		0.358	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	XM_929989		18	115	0	0	0	1	0	18	115				
ILF2	3608	broad.mit.edu	37	1	153635689	153635689	+	Splice_Site	SNP	A	A	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr1:153635689A>T	ENST00000361891.4	-	11	932		c.e11+1		ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2						immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCATGCTGTACCTGTATGCA	0.448																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.e11+1		interleukin enhancer binding factor 2							206.0	200.0	202.0					1																	153635689		2203	4300	6503	SO:0001630	splice_region_variant	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153635689A>T	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.806+1T>A	1.37:g.153635689A>T						ILF2_ENST00000480213.1_5'UTR		NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		11	932	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)							A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Splice_Site	SNP	ENST00000361891.4	37		CCDS1050.1	.	.	.	.	.	.	.	.	.	.	A	19.35	3.810520	0.70797	.	.	ENSG00000143621	ENST00000361891	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2593	0.49074	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ILF2	151902313	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	7.983000	0.88140	2.157000	0.67596	0.533000	0.62120	.		0.448	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515	Intron	31	189	0	0	0	1	0	31	189				
ZNF157	7712	broad.mit.edu	37	X	47272589	47272589	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chrX:47272589C>G	ENST00000377073.3	+	4	1203	c.1117C>G	c.(1117-1119)Ctt>Gtt	p.L373V		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	373					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GCACTCATCTCTTGGGATCCA	0.413																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1117-1119)Ctt>Gtt		zinc finger protein 157							50.0	46.0	47.0					X																	47272589		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272589C>G	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1117C>G	X.37:g.47272589C>G	ENSP00000366273:p.Leu373Val						p.L373V	NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN			4	1203	+			373					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1117C>G	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.413737	0.42817	.	.	ENSG00000147117	ENST00000377073	T	0.12255	2.7	3.08	3.08	0.35506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42017	0.1184	M	0.88181	2.935	0.18873	N	0.999985	D	0.71674	0.998	D	0.85130	0.997	T	0.15838	-1.0423	9	0.87932	D	0	.	11.3561	0.49617	0.0:1.0:0.0:0.0	.	373	P51786	ZN157_HUMAN	V	373	ENSP00000366273:L373V	ENSP00000366273:L373V	L	+	1	0	ZNF157	47157533	0.931000	0.31567	0.014000	0.15608	0.997000	0.91878	1.985000	0.40668	1.808000	0.52836	0.600000	0.82982	CTT		0.413	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		12	29	0	0	0	1	0	12	29				
IGKV2D-29	28882	broad.mit.edu	37	2	89986989	89986989	+	RNA	SNP	C	C	T			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:89986989C>T	ENST00000491977.1	+	0	300									immunoglobulin kappa variable 2D-29																		TCAGTGGCAGCGGGTCAGGGA	0.517																																						ENST00000491977.1																			0																				40.0	48.0	46.0					2																	89986989		1831	4073	5904			0							g.chr2:89986989C>T	M31952		2p11.2	2012-02-08			ENSG00000243264	ENSG00000243264		"""Immunoglobulins / IGK locus"""	5800	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151619		2.37:g.89986989C>T														0	300	+									RNA	SNP	ENST00000491977.1	37																																																																																						0.517	IGKV2D-29-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323291.1	NG_000833		13	47	0	0	0	1	0	13	47				
CHN1	1123	broad.mit.edu	37	2	175673684	175673684	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr2:175673684G>A	ENST00000409900.3	-	11	1364	c.1051C>T	c.(1051-1053)Cca>Tca	p.P351S	CHN1_ENST00000409156.3_Missense_Mutation_p.P325S|CHN1_ENST00000409597.1_Missense_Mutation_p.P167S|CHN1_ENST00000295497.7_Missense_Mutation_p.P226S|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	351	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.P351T(1)|p.P226T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			AGTGGAATTGGCAAATCCCTG	0.368			T	TAF15	extraskeletal myxoid chondrosarcoma																																	ENST00000409900.3				Dom	yes		2	2q31-q32.1	1123	T	chimerin (chimaerin) 1			M	TAF15		extraskeletal myxoid chondrosarcoma		2	Substitution - Missense(2)	p.P351T(1)|p.P226T(1)	lung(2)	NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1051-1053)Cca>Tca		chimerin 1							257.0	251.0	253.0					2																	175673684		1890	4114	6004	SO:0001583	missense	1123				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr2:175673684G>A		CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.1051C>T	2.37:g.175673684G>A	ENSP00000386741:p.Pro351Ser					CHN1_ENST00000409597.1_Missense_Mutation_p.P167S|CHN1_ENST00000409156.3_Missense_Mutation_p.P325S|CHN1_ENST00000295497.7_Missense_Mutation_p.P226S|CHN1_ENST00000488080.1_5'UTR	p.P351S	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.226)		11	1364	-			351			Rho-GAP.		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	c.1051C>T	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814742	0.90790	.	.	ENSG00000128656	ENST00000409900;ENST00000295497;ENST00000409597;ENST00000409156;ENST00000409089;ENST00000444394;ENST00000413882;ENST00000443238	T;T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26;2.26	4.97	4.97	0.65823	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	M	0.77406	2.37	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.75020	0.985;0.945;0.958	T	0.42498	-0.9448	10	0.56958	D	0.05	.	17.565	0.87917	0.0:0.0:1.0:0.0	.	325;351;226	B4DV19;P15882;P15882-2	.;CHIN_HUMAN;.	S	351;226;167;325;143;126;169;177	ENSP00000386741:P351S;ENSP00000295497:P226S;ENSP00000386469:P167S;ENSP00000386470:P325S;ENSP00000386322:P143S;ENSP00000411911:P126S;ENSP00000410496:P169S;ENSP00000409798:P177S	ENSP00000295497:P226S	P	-	1	0	CHN1	175381930	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.813000	0.99286	2.458000	0.83093	0.455000	0.32223	CCA		0.368	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1	NM_001822		4	113	0	0	0	1	0	4	113				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000378237.3_Silent_p.Q179Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		3	45	0	0	0	1	0	3	45				
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-	rs372790950|rs372517981		TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1				ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene																		GGTAActctgtctctctctctc	0.559																																						ENST00000469908.1																			0																																																			0							g.chr16:2475097_2475098delTC	DQ266102		16p13.3	2012-03-14	2010-03-12		ENSG00000238098	ENSG00000238098		"""ATP binding cassette transporters / subfamily A"""	32972	pseudogene	pseudogene						16968533	Standard	NR_003574		Approved		uc002cqc.1		OTTHUMG00000154348		16.37:g.2475107_2475108delTC								NR_003574.1						0	3047	+									RNA	DEL	ENST00000469908.1	37																																																																																						0.559	ABCA17P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334904.1	NR_003574		2	4						2	4	---	---	---	---
LDHD	197257	broad.mit.edu	37	16	75148567	75148567	+	Frame_Shift_Del	DEL	G	G	-			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr16:75148567delG	ENST00000450168.2	-	5	536	c.486delC	c.(484-486)gccfs	p.A162fs	LDHD_ENST00000300051.4_Frame_Shift_Del_p.A162fs	NM_194436.2	NP_919417.1			lactate dehydrogenase D											endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						CACAGAGAGAGGCGTCCGCGC	0.706																																						ENST00000300051.4																			0				endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						c.(484-486)gcfs		lactate dehydrogenase D							10.0	12.0	11.0					16																	75148567		2115	4137	6252	SO:0001589	frameshift_variant	197257						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding	g.chr16:75148567delG	AY092767	CCDS10913.1, CCDS45529.1	16q22.3	2011-01-27			ENSG00000166816	ENSG00000166816			19708	protein-coding gene	gene with protein product		607490				12127981	Standard	NM_153486		Approved		uc002fdm.3	Q86WU2	OTTHUMG00000137605	ENST00000450168.2:c.486delC	16.37:g.75148567delG	ENSP00000417011:p.Ala162fs					LDHD_ENST00000450168.2_Frame_Shift_Del_p.A162fs	p.A162fs	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN			5	532	-			162			FAD-binding PCMH-type.			Frame_Shift_Del	DEL	ENST00000450168.2	37	c.486delC	CCDS45529.1																																																																																				0.706	LDHD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434651.1	NM_153486		2	4						2	4	---	---	---	---
MMP11	4320	broad.mit.edu	37	22	24123200	24123200	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr22:24123200delT	ENST00000215743.3	+	5	823	c.771delT	c.(769-771)tatfs	p.Y257fs		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	257					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	AACACCTATATGGCCAGCCCT	0.622																																						ENST00000215743.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27						c.(769-771)tafs		matrix metallopeptidase 11 (stromelysin 3)							82.0	70.0	74.0					22																	24123200		2203	4300	6503	SO:0001589	frameshift_variant	4320				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr22:24123200delT		CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.771delT	22.37:g.24123200delT	ENSP00000215743:p.Tyr257fs						p.Y257fs	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN			5	823	+		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)	257					Q5FX24|Q6PEZ6|Q9UC26	Frame_Shift_Del	DEL	ENST00000215743.3	37	c.771delT	CCDS13816.1																																																																																				0.622	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319891.2	NM_005940		12	45						12	45	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29707498	29707498	+	IGR	DEL	G	G	-			TCGA-ZG-A9LN-01A-11D-A41K-08	TCGA-ZG-A9LN-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd8c6e47-fb57-4114-ab7a-9c49e5ff0613	668c30db-01b0-478c-8a8a-864043eb6519	g.chr22:29707498delG	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000360113.2_Frame_Shift_Del_p.P295fs|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000471961.1_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.G353fs|RASL10A_ENST00000608559.1_5'Flank|GAS2L1_ENST00000341313.6_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CCGCTACTCCGGGGACAGTGA	0.706																																						ENST00000471961.1																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1057-1059)ggfs		growth arrest-specific 2 like 1							2.0	2.0	2.0					22																	29707498		1470	3304	4774	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29707498delG	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29707498delG						GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_Frame_Shift_Del_p.P295fs|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000407647.2_Frame_Shift_Del_p.G353fs|GAS2L1_ENST00000407854.1_Frame_Shift_Del_p.G353fs	p.G353fs			Q99501	GA2L1_HUMAN			5	2105	+			353					Q49AU5|Q6PI03	Frame_Shift_Del	DEL	ENST00000216101.6	37	c.1057delG	CCDS13854.1																																																																																				0.706	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			2	4						2	4	---	---	---	---
