#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
NELFA	7469	broad.mit.edu	37	4	1985181	1985181	+	Silent	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr4:1985181C>T	ENST00000411638.2	-	11	1467	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	NELFA_ENST00000542778.1_Silent_p.E349E|NELFA_ENST00000382882.3_Silent_p.E495E|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	484					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CCTCCGTGTGCTCGCTCAGCT	0.642																																						uc003gem.3																			0				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18						c.(1483-1485)gaG>gaA		Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.							183.0	164.0	170.0					4																	1985181		2203	4300	6503	SO:0001819	synonymous_variant	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985181C>T	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1452G>A	4.37:g.1985181C>T			Somatic				WHSC2_uc003gek.3_Silent_p.E221E|WHSC2_uc003gel.3_Silent_p.E409E|WHSC2_uc003gen.3_Silent_p.E349E	p.E495E	NM_005663	NP_005654	WXS	Illumina GAIIx	Phase_I	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		10	1728	-			484					A2A2T1|O95392	Silent	SNP	ENST00000411638.2	37	c.1485G>A																																																																																					0.642	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	NM_005663		4	150	0	0	0	1	0	4	150				
ZFP90	146198	broad.mit.edu	37	16	68598529	68598529	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr16:68598529A>T	ENST00000570495.1	+	5	2131	c.1839A>T	c.(1837-1839)gaA>gaT	p.E613D	ZFP90_ENST00000563169.2_Missense_Mutation_p.E613D|ZFP90_ENST00000398253.2_Missense_Mutation_p.E613D			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	613					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTTGTAAGGAATGTGGGAAAA	0.383																																						uc010cff.3																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1837-1839)gaA>gaT		Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.							80.0	89.0	86.0					16																	68598529		2113	4270	6383	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598529A>T	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1839A>T	16.37:g.68598529A>T	ENSP00000460547:p.Glu613Asp		Somatic				ZFP90_uc002ewb.3_3'UTR|ZFP90_uc002ewc.3_3'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.E613D|ZFP90_uc002ewe.3_Missense_Mutation_p.E613D	p.E613D	NM_133458	NP_597715	WXS	Illumina GAIIx	Phase_I	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	4	2131	+		Ovarian(137;0.192)	613					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1839A>T	CCDS42183.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.00|12.00	1.806532|1.806532	0.31961|0.31961	.|.	.|.	ENSG00000184939|ENSG00000184939	ENST00000398253|ENST00000327567	T|.	0.07444|.	3.19|.	5.64|5.64	3.34|3.34	0.38264|0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.37489|0.37489	0.1005|0.1005	L|L	0.35723|0.35723	1.085|1.085	0.25075|0.25075	N|N	0.990967|0.990967	P|.	0.39216|.	0.664|.	B|.	0.42343|.	0.384|.	T|T	0.21930|0.21930	-1.0231|-1.0231	9|6	0.36615|0.42905	T|T	0.2|0.14	-15.8748|-15.8748	8.8401|8.8401	0.35137|0.35137	0.8424:0.0:0.1576:0.0|0.8424:0.0:0.1576:0.0	.|.	613|.	Q8TF47|.	ZFP90_HUMAN|.	D|I	613|86	ENSP00000381304:E613D|.	ENSP00000381304:E613D|ENSP00000329859:N86I	E|N	+|+	3|2	2|0	ZFP90|ZFP90	67156030|67156030	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-0.782000|-0.782000	0.04643|0.04643	0.480000|0.480000	0.27534|0.27534	0.454000|0.454000	0.30748|0.30748	GAA|AAT		0.383	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		52	69	0	0	0	1	0	52	69				
PTPRB	5787	broad.mit.edu	37	12	70948968	70948968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr12:70948968G>T	ENST00000261266.5	-	18	4490	c.4461C>A	c.(4459-4461)taC>taA	p.Y1487*	PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Y1617*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Y1397*|PTPRB_ENST00000334414.6_Nonsense_Mutation_p.Y1705*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Y1397*	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1487	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTGAAGTATTTCACAG	0.443																																						uc001swc.4																			0		p.S1704F(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5113-5115)taC>taA		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.							101.0	96.0	98.0					12																	70948968		1954	4169	6123	SO:0001587	stop_gained	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70948968G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4461C>A	12.37:g.70948968G>T	ENSP00000261266:p.Tyr1487*		Somatic				PTPRB_uc001swb.4_Nonsense_Mutation_p.Y1487*|PTPRB_uc010sto.2_Nonsense_Mutation_p.Y1397*|PTPRB_uc010stp.2_Nonsense_Mutation_p.Y1397*|PTPRB_uc001swa.4_Nonsense_Mutation_p.Y1617*	p.Y1705*	NM_001109754	NP_001103224	WXS	Illumina GAIIx	Phase_I	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		19	5160	-	Renal(347;0.236)		1487			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Nonsense_Mutation	SNP	ENST00000261266.5	37	c.5115C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	43	10.191832	0.99355	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	.	.	.	5.8	2.93	0.34026	.	0.056861	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.9624	0.35856	0.2825:0.0:0.7175:0.0	.	.	.	.	X	1705;1397;1617;1397;1397;1487	.	ENSP00000261266:Y1487X	Y	-	3	2	PTPRB	69235235	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.229000	0.51278	0.333000	0.23563	-0.670000	0.03821	TAC		0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			28	46	0	0	0	1	0	28	46				
ZNF491	126069	broad.mit.edu	37	19	11917928	11917928	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr19:11917928A>G	ENST00000323169.5	+	3	1491	c.1160A>G	c.(1159-1161)cAt>cGt	p.H387R	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	387					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAATGTAAGCATTGTGGGAAA	0.393																																						uc002mso.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						c.(1159-1161)cAt>cGt		Homo sapiens zinc finger protein 491 (ZNF491), mRNA.							51.0	56.0	55.0					19																	11917928		2203	4300	6503	SO:0001583	missense	126069				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11917928A>G	AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1160A>G	19.37:g.11917928A>G	ENSP00000313443:p.His387Arg		Somatic				ZNF491_uc021upj.1_Missense_Mutation_p.H387R	p.H387R	NM_152356	NP_689569	WXS	Illumina GAIIx	Phase_I	Q8N8L2	ZN491_HUMAN			2	1445	+			387					Q3MJ35|Q8NAT8	Missense_Mutation	SNP	ENST00000323169.5	37	c.1160A>G	CCDS12267.1	.	.	.	.	.	.	.	.	.	.	a	3.287	-0.145792	0.06627	.	.	ENSG00000177599	ENST00000323169;ENST00000455048	T	0.18810	2.19	0.981	0.981	0.19756	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19366	0.0465	L	0.49778	1.585	0.09310	N	1	B	0.12630	0.006	B	0.19666	0.026	T	0.27434	-1.0074	9	0.66056	D	0.02	.	7.5236	0.27643	1.0:0.0:0.0:0.0	.	387	Q8N8L2	ZN491_HUMAN	R	387;359	ENSP00000313443:H387R	ENSP00000313443:H387R	H	+	2	0	ZNF491	11778928	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.036000	0.12185	0.710000	0.31997	0.414000	0.27820	CAT		0.393	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344518.1	NM_152356		27	36	0	0	0	1	0	27	36				
CEP250	11190	broad.mit.edu	37	20	34087927	34087927	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:34087927C>T	ENST00000397527.1	+	28	4547	c.3827C>T	c.(3826-3828)aCt>aTt	p.T1276I	CEP250_ENST00000342580.4_Missense_Mutation_p.T1220I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1276	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTAACTGATACTGAGGCTGAG	0.512																																						uc021wco.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3826-3828)aCt>aTt		Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.							133.0	120.0	125.0					20																	34087927		2203	4300	6503	SO:0001583	missense	11190				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	g.chr20:34087927C>T	AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3827C>T	20.37:g.34087927C>T	ENSP00000380661:p.Thr1276Ile		Somatic				CEP250_uc010zve.2_Missense_Mutation_p.T644I	p.T1276I	NM_007186	NP_009117	WXS	Illumina GAIIx	Phase_I	Q9BV73	CP250_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0106)		27	4474	+	Lung NSC(9;0.00156)|all_lung(11;0.00243)		1276			Gln/Glu-rich.		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	ENST00000397527.1	37	c.3827C>T	CCDS13255.1	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747258	0.15710	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.10099	2.91;2.91	5.18	0.744	0.18353	.	1.144410	0.06348	N	0.709438	T	0.11537	0.0281	M	0.63428	1.95	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.42413	-0.9453	10	0.20519	T	0.43	.	4.8403	0.13487	0.0:0.4944:0.1466:0.359	.	1276	Q9BV73	CP250_HUMAN	I	1276;1220	ENSP00000380661:T1276I;ENSP00000341541:T1220I	ENSP00000341541:T1220I	T	+	2	0	CEP250	33551341	0.001000	0.12720	0.001000	0.08648	0.965000	0.64279	0.649000	0.24843	0.015000	0.14971	0.655000	0.94253	ACT		0.512	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078877.7	NM_007186		45	65	0	0	0	1	0	45	65				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.3	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(265)|p.Q61L(230)|p.Q61K(59)|p.Q61H(20)|p.Q61P(6)|p.Q61?(1)|p.Q61Q(1)|p.Q61E(1)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)	Somatic				HRAS_uc010qvw.2_Missense_Mutation_p.Q61R|HRAS_uc010qvx.2_Missense_Mutation_p.Q61R|HRAS_uc010qvy.2_Non-coding_Transcript	p.Q61R	NM_005343	NP_005334	WXS	Illumina GAIIx	Phase_I	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	370	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		38	58	0	0	0	1	0	38	58				
CLCN2	1181	broad.mit.edu	37	3	184071569	184071569	+	Missense_Mutation	SNP	C	C	T	rs201130753		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:184071569C>T	ENST00000265593.4	-	16	1907	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.R535H|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.R579H|CLCN2_ENST00000344937.7_Missense_Mutation_p.R562H	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	579					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTCCTCCACACGCACCCGGTA	0.642													C|||	0	0.0	0.0	0.0	5008	,	,		19015	0.0		0.0	False		,,,				2504	0.0					uc003foi.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1735-1737)cGt>cAt		Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	Lubiprostone(DB01046)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	39.0	38.0	38.0		1685,1604,1736,1736	5.0	1.0	3		38	0,8596		0,0,4298	no	missense,missense,missense,missense	CLCN2	NM_001171087.1,NM_001171088.1,NM_001171089.1,NM_004366.4	29,29,29,29	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	562/882,535/855,579/870,579/899	184071569	1,13001	2203	4298	6501	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071569C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1736G>A	3.37:g.184071569C>T	ENSP00000265593:p.Arg579His		Somatic				CLCN2_uc003foh.3_Missense_Mutation_p.R103H|CLCN2_uc010hya.2_Missense_Mutation_p.R562H|CLCN2_uc011brl.2_Missense_Mutation_p.R579H|CLCN2_uc011brm.2_Missense_Mutation_p.R535H	p.R579H	NM_004366	NP_004357	WXS	Illumina GAIIx	Phase_I	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	1860	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		579					B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1736G>A	CCDS3263.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	19.00	3.741843	0.69304	2.27E-4	0.0	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	L	0.58810	1.83	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;0.978;1.0;0.935	D;D;P;D;B	0.91635	0.999;0.994;0.566;0.994;0.233	D	0.91969	0.5585	10	0.33940	T	0.23	-6.0491	17.9227	0.88972	0.0:1.0:0.0:0.0	.	535;579;562;579;535	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	H	579;562;535;579	ENSP00000265593:R579H;ENSP00000345056:R562H;ENSP00000400425:R535H;ENSP00000391928:R579H	ENSP00000265593:R579H	R	-	2	0	CLCN2	185554263	0.919000	0.31177	1.000000	0.80357	0.978000	0.69477	3.116000	0.50399	2.320000	0.78422	0.563000	0.77884	CGT		0.642	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			3	11	0	0	0	1	0	3	11				
BEST4	266675	broad.mit.edu	37	1	45250578	45250578	+	Splice_Site	SNP	T	T	C	rs201994250		TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:45250578T>C	ENST00000372207.3	-	7	991	c.992A>G	c.(991-993)cAg>cGg	p.Q331R		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	331			Q -> E (in dbSNP:rs16832241).			chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					CTTGCTCACCTGCAAGTTGCG	0.577																																						uc001cmm.3																			0				large_intestine(1)|lung(4)|ovary(1)|skin(1)	7						c.e7+1		Homo sapiens bestrophin 4 (BEST4), mRNA.							74.0	80.0	78.0					1																	45250578		2203	4300	6503	SO:0001630	splice_region_variant	266675					chloride channel complex|plasma membrane	chloride channel activity	g.chr1:45250578T>C	AF440757	CCDS514.1	1p33-p32.3	2012-09-26	2006-10-18	2006-10-18	ENSG00000142959	ENSG00000142959		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17106	protein-coding gene	gene with protein product		607336	"""vitelliform macular dystrophy 2-like 2"""	VMD2L2		12032738, 16702355	Standard	NM_153274		Approved		uc001cmm.3	Q8NFU0	OTTHUMG00000008488	ENST00000372207.3:c.993+1A>G	1.37:g.45250578T>C			Somatic					p.Q331_splice	NM_153274	NP_695006	WXS	Illumina GAIIx	Phase_I	Q8NFU0	BEST4_HUMAN			7	1042	-	Acute lymphoblastic leukemia(166;0.155)		331		Q -> E (in dbSNP:rs16832241).			Q5JR93	Splice_Site	SNP	ENST00000372207.3	37	c.993_splice	CCDS514.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.048928	0.93740	.	.	ENSG00000142959	ENST00000372207	D	0.98455	-4.94	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.98899	0.9627	M	0.87682	2.9	0.80722	D	1	D	0.64830	0.994	D	0.71656	0.974	D	0.99486	1.0949	10	0.56958	D	0.05	-32.1374	14.0104	0.64493	0.0:0.0:0.0:1.0	.	331	Q8NFU0	BEST4_HUMAN	R	331	ENSP00000361281:Q331R	ENSP00000361281:Q331R	Q	-	2	0	BEST4	45023165	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.976000	0.63785	2.168000	0.68352	0.533000	0.62120	CAG		0.577	BEST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023425.1	NM_153274	Missense_Mutation	3	73	0	0	0	1	0	3	73				
SIGLEC10	89790	broad.mit.edu	37	19	51919499	51919499	+	Intron	SNP	T	T	C			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr19:51919499T>C	ENST00000339313.5	-	4	871				SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Intron|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron|SIGLEC10_ENST00000353836.5_Intron|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Intron|SIGLEC10_ENST00000442846.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		gCACATCCCCTCATCCCCTGA	0.557																																						uc010eow.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(112-114)gAg>gGg		Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 3, mRNA.							54.0	53.0	54.0					19																	51919499		692	1591	2283	SO:0001627	intron_variant	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51919499T>C	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.754+64A>G	19.37:g.51919499T>C			Somatic				SIGLEC10_uc002pwp.3_Intron|SIGLEC10_uc002pwo.3_Intron|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|LOC100129083_uc021uym.1_Intron	p.E38G			WXS	Illumina GAIIx	Phase_I	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	2	657	-		all_neural(266;0.0199)	33			Ig-like V-type.		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.113A>G	CCDS12832.1																																																																																				0.557	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		3	76	0	0	0	1	0	3	76				
ASXL1	171023	broad.mit.edu	37	20	31024411	31024411	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr20:31024411G>A	ENST00000375687.4	+	13	4320	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_ENST00000306058.5_Missense_Mutation_p.G1294D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1299					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557			"""F, N, Mis"""		"""MDS, CMML"""																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		0		p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(3895-3897)gGc>gAc		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.							67.0	66.0	66.0					20																	31024411		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024411G>A	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3896G>A	20.37:g.31024411G>A	ENSP00000364839:p.Gly1299Asp		Somatic				ASXL1_uc002wxs.3_Missense_Mutation_p.G1298D|ASXL1_uc010geb.3_Missense_Mutation_p.G1190D	p.G1299D	NM_015338	NP_056153	WXS	Illumina GAIIx	Phase_I	Q8IXJ9	ASXL1_HUMAN			12	4328	+			1299					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3896G>A	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.838653	0.32513	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.17854	2.26;2.25	4.56	3.61	0.41365	.	0.384664	0.29660	N	0.011527	T	0.11495	0.0280	L	0.36672	1.1	0.33225	D	0.555162	B;B	0.25390	0.125;0.125	B;B	0.20184	0.028;0.028	T	0.09840	-1.0656	10	0.32370	T	0.25	-11.0831	5.8012	0.18414	0.0966:0.0:0.6978:0.2056	.	1294;1299	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	D	1299;1299;1299;1220;1294	ENSP00000364839:G1299D;ENSP00000305119:G1294D	ENSP00000305119:G1294D	G	+	2	0	ASXL1	30488072	0.928000	0.31464	0.995000	0.50966	0.412000	0.31113	0.863000	0.27913	1.531000	0.49152	0.561000	0.74099	GGC		0.557	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		27	48	0	0	0	1	0	27	48				
GPR179	440435	broad.mit.edu	37	17	36484690	36484690	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr17:36484690C>T	ENST00000342292.4	-	11	4782	c.4762G>A	c.(4762-4764)Gcc>Acc	p.A1588T	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1588					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTGTTTTGGCAGGTGTTGCT	0.502																																						uc002hpz.3																			0		p.P1587P(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4762-4764)Gcc>Acc		Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.							152.0	151.0	151.0					17																	36484690		2004	4187	6191	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484690C>T		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4762G>A	17.37:g.36484690C>T	ENSP00000345060:p.Ala1588Thr		Somatic					p.A1588T	NM_001004334	NP_001004334	WXS	Illumina GAIIx	Phase_I	Q6PRD1	GP179_HUMAN			10	4783	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1588						Missense_Mutation	SNP	ENST00000342292.4	37	c.4762G>A	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.487981	0.44249	.	.	ENSG00000188888	ENST00000342292	T	0.54279	0.58	4.62	2.5	0.30297	.	0.549164	0.15311	N	0.269065	T	0.39384	0.1076	L	0.46614	1.455	0.09310	N	1	P	0.36222	0.544	B	0.30251	0.113	T	0.32903	-0.9889	10	0.59425	D	0.04	-2.0323	6.8916	0.24232	0.1781:0.7267:0.0:0.0952	.	1588	Q6PRD1	GP179_HUMAN	T	1588	ENSP00000345060:A1588T	ENSP00000345060:A1588T	A	-	1	0	GPR179	33738216	0.000000	0.05858	0.008000	0.14137	0.259000	0.26198	0.618000	0.24373	1.089000	0.41292	0.313000	0.20887	GCC		0.502	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			5	159	0	0	0	1	0	5	159				
HHIP	64399	broad.mit.edu	37	4	145581093	145581093	+	Intron	SNP	C	C	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr4:145581093C>G	ENST00000296575.3	+	4	1486				HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.L312V	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein						carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAGAAAGAATCTTGCAGGAGA	0.313																																						uc003ijr.2																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(934-936)Ctt>Gtt		Homo sapiens hedgehog interacting protein (HHIP), mRNA.																																				SO:0001627	intron_variant	64399					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	g.chr4:145581093C>G	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.831+103C>G	4.37:g.145581093C>G			Somatic				HHIP_uc003ijs.2_Intron	p.L312V	NM_022475	NP_071920	WXS	Illumina GAIIx	Phase_I	Q96QV1	HHIP_HUMAN		GBM - Glioblastoma multiforme(119;0.0185)	3	1614	+	all_hematologic(180;0.151)		0					Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	37	c.934C>G	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207746	0.06180	.	.	ENSG00000164161	ENST00000434550	T	0.48836	0.8	5.58	-1.25	0.09405	.	.	.	.	.	T	0.22589	0.0545	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17440	-1.0369	7	.	.	.	.	0.5374	0.00639	0.3969:0.1292:0.2389:0.2349	.	312	Q96QV1-2	.	V	312	ENSP00000408587:L312V	.	L	+	1	0	HHIP	145800543	0.007000	0.16637	0.003000	0.11579	0.471000	0.32888	-0.044000	0.12023	-0.112000	0.11979	-0.410000	0.06199	CTT		0.313	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2			2	5	0	0	0	1	0	2	5				
AMPD1	270	broad.mit.edu	37	1	115222322	115222322	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr1:115222322A>G	ENST00000520113.2	-	7	889	c.874T>C	c.(874-876)Tat>Cat	p.Y292H	AMPD1_ENST00000369538.3_Missense_Mutation_p.Y288H|AMPD1_ENST00000353928.6_Missense_Mutation_p.Y259H			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	292					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CGGTGGGTATAGGTCTTACTG	0.413																																						uc001efe.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(874-876)Tat>Cat		Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)						86.0	93.0	91.0					1																	115222322		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115222322A>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.874T>C	1.37:g.115222322A>G	ENSP00000430075:p.Tyr292His		Somatic				AMPD1_uc001eff.2_Missense_Mutation_p.Y288H	p.Y292H	NM_000036	NP_000027	WXS	Illumina GAIIx	Phase_I	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	922	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	259					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.874T>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	A	28.7	4.939604	0.92526	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.91180	-2.8;-2.8;-2.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.99	D	0.95674	0.8726	10	0.87932	D	0	-19.1683	16.1485	0.81594	1.0:0.0:0.0:0.0	.	288;259	Q5TF02;P23109	.;AMPD1_HUMAN	H	292;288;259	ENSP00000430075:Y292H;ENSP00000358551:Y288H;ENSP00000316520:Y259H	ENSP00000316520:Y259H	Y	-	1	0	AMPD1	115023845	1.000000	0.71417	0.991000	0.47740	0.980000	0.70556	9.287000	0.95975	2.281000	0.76405	0.533000	0.62120	TAT		0.413	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			3	114	0	0	0	1	0	3	114				
BCAP31	10134	broad.mit.edu	37	X	152986357	152986357	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chrX:152986357G>A	ENST00000345046.6	-	3	570	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F	BCAP31_ENST00000458587.2_Missense_Mutation_p.L122F|BCAP31_ENST00000441714.1_Missense_Mutation_p.L55F|BCAP31_ENST00000468947.1_5'UTR	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	55					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGACAATGAGAACCACAAAG	0.502																																						uc004fid.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(364-366)Ctc>Ttc		Homo sapiens B-cell receptor-associated protein 31 (BCAP31), transcript variant 1, mRNA.							201.0	140.0	161.0					X																	152986357		2203	4300	6503	SO:0001583	missense	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment membrane|cytosol|endoplasmic reticulum membrane|integral to plasma membrane	receptor binding	g.chrX:152986357G>A	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.163C>T	X.37:g.152986357G>A	ENSP00000343458:p.Leu55Phe		Somatic				BCAP31_uc011myz.1_Missense_Mutation_p.L55F|BCAP31_uc011mza.1_Missense_Mutation_p.L55F|BCAP31_uc004fie.2_Missense_Mutation_p.L55F	p.L122F	NM_001139457	NP_005736	WXS	Illumina GAIIx	Phase_I	P51572	BAP31_HUMAN			2	794	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		55					B3KQ79|D3DWV5|Q13836|Q96CF0	Missense_Mutation	SNP	ENST00000345046.6	37	c.364C>T	CCDS14727.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138458	0.77775	.	.	ENSG00000185825	ENST00000441714;ENST00000345046;ENST00000426131;ENST00000458587;ENST00000442093;ENST00000429550;ENST00000416815;ENST00000423827;ENST00000430088	.	.	.	5.77	5.77	0.91146	.	0.195270	0.46758	D	0.000280	T	0.64560	0.2609	L	0.39692	1.235	0.44214	D	0.997048	D;P	0.56287	0.975;0.743	P;B	0.60609	0.877;0.248	T	0.57283	-0.7838	9	0.14656	T	0.56	-15.7073	17.5629	0.87912	0.0:0.0:1.0:0.0	.	55;122	P51572;B3KQ79	BAP31_HUMAN;.	F	55;55;122;122;55;55;55;55;55	.	ENSP00000343458:L55F	L	-	1	0	BCAP31	152639551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.634000	0.61325	2.418000	0.82041	0.600000	0.82982	CTC		0.502	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		7	70	0	0	0	1	0	7	70				
EPHA6	285220	broad.mit.edu	37	3	97467477	97467477	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:97467477A>G	ENST00000389672.5	+	18	3363	c.3325A>G	c.(3325-3327)Ata>Gta	p.I1109V		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	1015						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CCAGAGACGAATAGTCAGCAG	0.428																																						uc010how.1																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(3325-3327)Ata>Gta		Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.							114.0	105.0	108.0					3																	97467477		1961	4158	6119	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97467477A>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.3325A>G	3.37:g.97467477A>G	ENSP00000374323:p.Ile1109Val		Somatic					p.I1109V	NM_001080448	NP_001073917	WXS	Illumina GAIIx	Phase_I	Q9UF33	EPHA6_HUMAN			17	3368	+			1014					D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.3325A>G	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.056769	0.76074	.	.	ENSG00000080224	ENST00000389672	T	0.67865	-0.29	5.44	5.44	0.79542	.	.	.	.	.	T	0.81847	0.4909	M	0.86097	2.795	0.80722	D	1	.	.	.	.	.	.	D	0.85161	0.0992	7	0.72032	D	0.01	.	15.4974	0.75666	1.0:0.0:0.0:0.0	.	.	.	.	V	1109	ENSP00000374323:I1109V	ENSP00000374323:I1109V	I	+	1	0	EPHA6	98950167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.062000	0.61559	0.528000	0.53228	ATA		0.428	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		3	31	0	0	0	1	0	3	31				
SOX2	6657	broad.mit.edu	37	3	181430265	181430265	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A2N5-01A-11D-A18F-08	TCGA-ET-A2N5-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f94cb83-7a8f-4eda-8c8e-51811c764160	bc834ff5-cc6c-4711-b85e-9870f290b91f	g.chr3:181430265delC	ENST00000325404.1	+	1	544	c.117delC	c.(115-117)gacfs	p.D39fs	SOX2_ENST00000431565.2_Frame_Shift_Del_p.D39fs	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	39					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACAGCCCGGACCGCGTCAAGC	0.687			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															uc003fkx.3				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			"""NSCLC, oesophageal squamous carcinoma"""		0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10						c.(115-117)gacfs		Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.							20.0	23.0	22.0					3																	181430265		2203	4299	6502	SO:0001589	frameshift_variant	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430265delC	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.117delC	3.37:g.181430265delC	ENSP00000323588:p.Asp39fs		Somatic				SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	p.D39fs	NM_003106	NP_003097	WXS	Illumina GAIIx	Phase_I	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		0	554	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		39					Q14537	Frame_Shift_Del	DEL	ENST00000325404.1	37	c.117delC	CCDS3239.1																																																																																				0.687	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		19	12						19	12	---	---	---	---
