#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CHCHD6	84303	broad.mit.edu	37	3	126445989	126445989	+	Silent	SNP	C	C	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr3:126445989C>A	ENST00000290913.3	+	2	249	c.156C>A	c.(154-156)acC>acA	p.T52T	CHCHD6_ENST00000508789.1_Silent_p.T52T	NM_032343.2	NP_115719.1	Q9BRQ6	MIC25_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 6	52					cellular response to DNA damage stimulus (GO:0006974)|cristae formation (GO:0042407)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(3)|lung(3)	8						CATCTTCTACCTTTGGCCTTC	0.512																																						ENST00000508789.1																			0				endometrium(2)|large_intestine(3)|lung(3)	8						c.(154-156)acC>acA		coiled-coil-helix-coiled-coil-helix domain containing 6							117.0	112.0	114.0					3																	126445989		2203	4300	6503	SO:0001819	synonymous_variant	84303							g.chr3:126445989C>A	BC006123	CCDS3041.1	3q21.3	2012-04-17			ENSG00000159685	ENSG00000159685		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28184	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 23"", ""coiled-coil-helix cristae morphology 1"""	615634				17624330, 22228767	Standard	NM_032343		Approved	MGC13016, PPP1R23, CHCM1	uc003ejf.2	Q9BRQ6	OTTHUMG00000159601	ENST00000290913.3:c.156C>A	3.37:g.126445989C>A						CHCHD6_ENST00000290913.3_Silent_p.T52T	p.T52T			Q9BRQ6	CHCH6_HUMAN			2	228	+			52					D6R9U0|D6RIB4|H8Y0Y7	Silent	SNP	ENST00000290913.3	37	c.156C>A	CCDS3041.1																																																																																				0.512	CHCHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356432.1	NM_032343		4	129	4	129	---	---	---	---
HIST1H2AD	3013	broad.mit.edu	37	6	26199153	26199153	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:26199153C>A	ENST00000341023.1	-	1	318	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H3D_ENST00000377831.5_5'UTR	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	107						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6		all_hematologic(11;0.196)				GGCAGAACACCGCCCTGAGCA	0.522																																						ENST00000341023.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(319-321)Ggt>Tgt		histone cluster 1, H2ad							134.0	119.0	124.0					6																	26199153		2203	4300	6503	SO:0001583	missense	3013				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26199153C>A	Z80776	CCDS4591.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196866	ENSG00000196866		"""Histones / Replication-dependent"""	4729	protein-coding gene	gene with protein product		602792	"""H2A histone family, member G"", ""histone 1, H2ad"""	H2AFG		9119399, 12408966	Standard	NM_021065		Approved	H2A/g, H2A.3	uc003ngw.4	P20671	OTTHUMG00000014437	ENST00000341023.1:c.319G>T	6.37:g.26199153C>A	ENSP00000341094:p.Gly107Cys					HIST1H3D_ENST00000377831.5_5'UTR	p.G107C	NM_021065.2	NP_066409.1	P20671	H2A1D_HUMAN			1	318	-		all_hematologic(11;0.196)	107					A0PK91|P57754|Q6FGY6	Missense_Mutation	SNP	ENST00000341023.1	37	c.319G>T	CCDS4591.1	.	.	.	.	.	.	.	.	.	.	.	14.99	2.699216	0.48307	.	.	ENSG00000196866	ENST00000341023	T	0.54866	0.55	4.82	4.82	0.62117	Histone-fold (2);Histone H2A (2);	0.000000	0.43919	U	0.000512	T	0.75095	0.3803	M	0.92026	3.265	0.47949	D	0.999552	D	0.89917	1.0	D	0.91635	0.999	T	0.81931	-0.0707	10	0.87932	D	0	.	17.2301	0.86982	0.0:1.0:0.0:0.0	.	107	P20671	H2A1D_HUMAN	C	107	ENSP00000341094:G107C	ENSP00000341094:G107C	G	-	1	0	HIST1H2AD	26307132	1.000000	0.71417	0.989000	0.46669	0.239000	0.25481	7.626000	0.83164	2.373000	0.80994	0.655000	0.94253	GGT		0.522	HIST1H2AD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040100.1	NM_021065		4	137	4	137	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157502129	157502129	+	Silent	SNP	G	G	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr6:157502129G>A	ENST00000350026.5	+	11	3124	c.3123G>A	c.(3121-3123)ggG>ggA	p.G1041G	ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000367148.1_Silent_p.G1094G|ARID1B_ENST00000346085.5_Silent_p.G1054G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1041					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCACTACTGGGGAGAAGATCA	0.552																																						ENST00000346085.5																			0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(3160-3162)ggG>ggA		AT rich interactive domain 1B (SWI1-like)							67.0	55.0	59.0					6																	157502129		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157502129G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3123G>A	6.37:g.157502129G>A						ARID1B_ENST00000367148.1_Silent_p.G1094G|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Silent_p.G1036G|ARID1B_ENST00000350026.5_Silent_p.G1041G	p.G1054G	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	12	3163	+		Breast(66;0.000162)|Ovarian(120;0.0265)	1041			ARID.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.3162G>A	CCDS5251.2																																																																																				0.552	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		3	46	3	46	---	---	---	---
MKRN1	23608	broad.mit.edu	37	7	140158931	140158931	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr7:140158931T>C	ENST00000255977.2	-	4	871	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000481705.1_5'Flank|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	216					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CACTGCAGCATAGGGGCACAG	0.562																																						ENST00000255977.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16						c.(646-648)tAt>tGt		makorin ring finger protein 1							150.0	146.0	147.0					7																	140158931		2203	4300	6503	SO:0001583	missense	23608						ligase activity|nucleic acid binding|protein binding|zinc ion binding	g.chr7:140158931T>C	AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.647A>G	7.37:g.140158931T>C	ENSP00000255977:p.Tyr216Cys					MKRN1_ENST00000443720.2_Missense_Mutation_p.Y216C|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Missense_Mutation_p.Y152C|MKRN1_ENST00000480552.1_Intron	p.Y216C	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN			4	871	-	Melanoma(164;0.00956)		216					A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	c.647A>G	CCDS5860.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377298	0.82682	.	.	ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000474576;ENST00000443720;ENST00000471104;ENST00000467513	T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.64	4.91	4.91	0.64330	Zinc finger, CCCH-type (3);	0.117488	0.64402	D	0.000013	T	0.62636	0.2444	M	0.88450	2.955	0.80722	D	1	B	0.25272	0.122	B	0.30105	0.111	T	0.67554	-0.5641	10	0.66056	D	0.02	.	14.7194	0.69294	0.0:0.0:0.0:1.0	.	216	Q9UHC7	MKRN1_HUMAN	C	216;152;152;216;152;152	ENSP00000255977:Y216C;ENSP00000417863:Y152C;ENSP00000416369:Y216C;ENSP00000418864:Y152C;ENSP00000418588:Y152C	ENSP00000255977:Y216C	Y	-	2	0	MKRN1	139805400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.067000	0.61834	0.454000	0.30748	TAT		0.562	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446		4	146	4	146	---	---	---	---
CTSL	1514	broad.mit.edu	37	9	90343270	90343270	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr9:90343270G>T	ENST00000343150.5	+	4	1245	c.355G>T	c.(355-357)Gat>Tat	p.D119Y	CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y|CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y			P07711	CATL1_HUMAN	cathepsin L	119					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										CAGATCTGTGGATTGGAGAGA	0.493																																						ENST00000343150.5																			0											c.(355-357)Gat>Tat		cathepsin L							64.0	61.0	62.0					9																	90343270		2203	4300	6503	SO:0001583	missense	1514							g.chr9:90343270G>T	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.355G>T	9.37:g.90343270G>T	ENSP00000345344:p.Asp119Tyr					CTSL_ENST00000342020.5_Missense_Mutation_p.D119Y|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.D119Y	p.D119Y							4	1245	+								Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.355G>T	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455962	0.63401	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.52526	0.66;0.66;0.66	4.51	2.62	0.31277	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81427	0.4820	H	0.99820	4.81	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85536	0.1212	10	0.87932	D	0	.	11.0618	0.47953	0.1554:0.0:0.8446:0.0	.	119	P07711	CATL1_HUMAN	Y	119	ENSP00000345344:D119Y;ENSP00000365061:D119Y;ENSP00000340470:D119Y	ENSP00000365061:D119Y	D	+	1	0	CTSL1	89533090	1.000000	0.71417	0.637000	0.29366	0.696000	0.40369	6.881000	0.75584	0.487000	0.27698	0.655000	0.94253	GAT		0.493	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		6	69	6	69	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33529773	33529773	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A9DK-01A-11D-A377-08	TCGA-XJ-A9DK-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd4e4ca0-0447-4148-8ee3-323010c60f2b	4c074125-47a4-4533-a8f6-a96d06f5e5b7	g.chr12:33529773T>A	ENST00000228567.3	-	7	1860	c.1564A>T	c.(1564-1566)Aca>Tca	p.T522S	SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	522					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CATTATGGTGTGGAAGGTGGT	0.408																																						ENST00000228567.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42						c.(1564-1566)Aca>Tca		synaptotagmin X							139.0	136.0	137.0					12																	33529773		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33529773T>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1564A>T	12.37:g.33529773T>A	ENSP00000228567:p.Thr522Ser					SYT10_ENST00000535526.1_Missense_Mutation_p.T341S	p.T522S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN			7	1860	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		522					Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1564A>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196238	0.38806	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.48201	0.98;0.82	4.73	4.73	0.59995	.	0.178982	0.25762	U	0.028470	T	0.30417	0.0764	N	0.20530	0.585	0.46458	D	0.999058	B	0.15473	0.013	B	0.08055	0.003	T	0.10222	-1.0639	10	0.08837	T	0.75	.	14.1138	0.65139	0.0:0.0:0.0:1.0	.	522	Q6XYQ8	SYT10_HUMAN	S	522;341	ENSP00000228567:T522S;ENSP00000438691:T341S	ENSP00000228567:T522S	T	-	1	0	SYT10	33421040	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.614000	0.67695	2.054000	0.61138	0.533000	0.62120	ACA		0.408	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		3	40	3	40	---	---	---	---
