#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
GCG	2641	broad.mit.edu	37	2	163005635	163005635	+	Silent	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr2:163005635G>A	ENST00000418842.2	-	2	308	c.54C>T	c.(52-54)agC>agT	p.S18S	GCG_ENST00000375497.3_Silent_p.S18S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	18					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						AACGTTGCCAGCTGCCTTGTA	0.438																																						ENST00000418842.2																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						c.(52-54)agC>agT		glucagon	Exenatide(DB01276)|Phentolamine(DB00692)						145.0	141.0	142.0					2																	163005635		1876	4111	5987	SO:0001819	synonymous_variant	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163005635G>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.54C>T	2.37:g.163005635G>A						GCG_ENST00000375497.3_Silent_p.S18S	p.S18S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN			2	308	-			18					A6NN65|Q53TP6	Silent	SNP	ENST00000418842.2	37	c.54C>T	CCDS46439.1																																																																																				0.438	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054		10	77	10	77	---	---	---	---
SPATA31A6	389730	broad.mit.edu	37	9	43627235	43627235	+	Missense_Mutation	SNP	T	T	A	rs552974847	byFrequency	TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr9:43627235T>A	ENST00000332857.6	-	4	1480	c.1452A>T	c.(1450-1452)caA>caT	p.Q484H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	484					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TGGGCAGGAATTGGGGTGTGG	0.537													T|||	2	0.000399361	0.0	0.0	5008	,	,		14089	0.0		0.0	False		,,,				2504	0.002					ENST00000332857.6																			0											c.(1450-1452)caA>caT		SPATA31 subfamily A, member 6							92.0	103.0	100.0					9																	43627235		615	1533	2148	SO:0001583	missense	389730							g.chr9:43627235T>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.1452A>T	9.37:g.43627235T>A	ENSP00000329825:p.Gln484His						p.Q484H	NM_001145196.1	NP_001138668.1					4	1480	-									Missense_Mutation	SNP	ENST00000332857.6	37	c.1452A>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466088	0.26335	.	.	ENSG00000185775	ENST00000332857	T	0.10099	2.91	2.1	0.931	0.19460	.	0.321861	0.22716	N	0.056505	T	0.12263	0.0298	L	0.56280	1.765	0.09310	N	1	P	0.50528	0.936	P	0.48030	0.564	T	0.11966	-1.0566	10	0.72032	D	0.01	0.0214	3.9328	0.09293	0.0:0.1896:0.0:0.8104	.	484	Q5VVP1	F75A6_HUMAN	H	484	ENSP00000329825:Q484H	ENSP00000329825:Q484H	Q	-	3	2	FAM75A6	43567231	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.456000	0.21859	0.267000	0.21916	-0.562000	0.04174	CAA		0.537	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1	NM_001145196		30	142	30	142	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15255016	15255016	+	Silent	SNP	G	G	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:15255016G>A	ENST00000378116.4	-	8	2577	c.2571C>T	c.(2569-2571)caC>caT	p.H857H	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	857						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTCTTCCTCGTGGGCAGATC	0.592																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2569-2571)caC>caT		family with sequence similarity 171, member A1							137.0	141.0	140.0					10																	15255016		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255016G>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2571C>T	10.37:g.15255016G>A							p.H857H	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2577	-			857					D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.2571C>T	CCDS31154.1																																																																																				0.592	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		6	68	6	68	---	---	---	---
TET1	80312	broad.mit.edu	37	10	70332588	70332588	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:70332588G>C	ENST00000373644.4	+	2	702	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	165					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGACACCCAAGTCCTTCCTGA	0.398																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(493-495)Gtc>Ctc		tet methylcytosine dioxygenase 1							71.0	70.0	71.0					10																	70332588		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332588G>C	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.493G>C	10.37:g.70332588G>C	ENSP00000362748:p.Val165Leu						p.V165L	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			2	702	+			165					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.493G>C	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	3.530	-0.095918	0.07010	.	.	ENSG00000138336	ENST00000373644	T	0.07021	3.23	5.24	-4.04	0.04010	.	1.581080	0.03860	N	0.273812	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41592	-0.9500	10	0.46703	T	0.11	.	9.4778	0.38882	0.3017:0.1319:0.5665:0.0	.	165	Q8NFU7	TET1_HUMAN	L	165	ENSP00000362748:V165L	ENSP00000362748:V165L	V	+	1	0	TET1	70002594	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.580000	0.05827	-1.141000	0.02873	-0.471000	0.05019	GTC		0.398	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		4	39	4	39	---	---	---	---
BAHD1	22893	broad.mit.edu	37	15	40754435	40754435	+	Missense_Mutation	SNP	G	G	A	rs143007309		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr15:40754435G>A	ENST00000416165.1	+	3	1828	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H|RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.R585H	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	586	Arg-rich.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCCGTCGCCGCCGCACTAAT	0.647																																						ENST00000561234.1																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28						c.(1753-1755)cGc>cAc		bromo adjacent homology domain containing 1		T	HIS/ARG	2,4286		0,2,2142	70.0	81.0	77.0		1757	4.8	1.0	15	dbSNP_134	77	0,8406		0,0,4203	yes	missense	BAHD1	NM_014952.3	29	0,2,6345	AA,AG,GG		0.0,0.0466,0.0158	probably-damaging	586/781	40754435	2,12692	2144	4203	6347	SO:0001583	missense	22893				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding	g.chr15:40754435G>A	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.1757G>A	15.37:g.40754435G>A	ENSP00000396976:p.Arg586His					BAHD1_ENST00000416165.1_Missense_Mutation_p.R586H|BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H	p.R585H			Q8TBE0	BAHD1_HUMAN		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)	3	2013	+		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	586			Arg-rich.		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	37	c.1754G>A	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	g	18.60	3.659474	0.67586	4.66E-4	0.0	ENSG00000140320	ENST00000416165	T	0.23552	1.9	5.74	4.83	0.62350	.	0.058627	0.64402	D	0.000002	T	0.39708	0.1088	L	0.29908	0.895	0.48975	D	0.999736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.966;0.925;0.966	T	0.35076	-0.9803	10	0.72032	D	0.01	-13.9515	16.3667	0.83331	0.0:0.0:0.8669:0.133	.	586;586;585	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	H	586	ENSP00000396976:R586H	ENSP00000396976:R586H	R	+	2	0	BAHD1	38541727	0.997000	0.39634	1.000000	0.80357	0.443000	0.32047	5.323000	0.65858	1.460000	0.47911	-0.196000	0.12772	CGC		0.647	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952		4	95	4	95	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81965227	81965227	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:81965227A>G	ENST00000359376.3	+	25	2921	c.2707A>G	c.(2707-2709)Atc>Gtc	p.I903V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	903					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTTCAGAGCATCCGAGAGAT	0.577																																						ENST00000359376.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2707-2709)Atc>Gtc		phospholipase C, gamma 2 (phosphatidylinositol-specific)							80.0	85.0	83.0					16																	81965227		1965	4151	6116	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81965227A>G		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2707A>G	16.37:g.81965227A>G	ENSP00000352336:p.Ile903Val						p.I903V	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN			25	2921	+			903					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2707A>G	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598871	0.46318	.	.	ENSG00000197943	ENST00000359376	T	0.52057	0.68	5.54	5.54	0.83059	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.195766	0.53938	D	0.000044	T	0.34106	0.0886	L	0.28115	0.83	0.43907	D	0.996548	B	0.06786	0.001	B	0.06405	0.002	T	0.14144	-1.0483	10	0.45353	T	0.12	.	9.9448	0.41602	0.8795:0.0:0.1205:0.0	.	903	P16885	PLCG2_HUMAN	V	903	ENSP00000352336:I903V	ENSP00000352336:I903V	I	+	1	0	PLCG2	80522728	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.757000	0.38400	2.089000	0.63090	0.533000	0.62120	ATC		0.577	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			5	61	5	61	---	---	---	---
ZCCHC14	23174	broad.mit.edu	37	16	87445898	87445898	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:87445898C>A	ENST00000268616.4	-	12	2235	c.2018G>T	c.(2017-2019)cGg>cTg	p.R673L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	673							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGAGCAGTCCGGGGGTTTAT	0.507																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(2017-2019)cGg>cTg		zinc finger, CCHC domain containing 14							77.0	93.0	87.0					16																	87445898		2196	4289	6485	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445898C>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.2018G>T	16.37:g.87445898C>A	ENSP00000268616:p.Arg673Leu						p.R673L	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2235	-			673					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.2018G>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407083	0.25378	.	.	ENSG00000140948	ENST00000268616	T	0.20738	2.05	5.59	3.63	0.41609	.	0.130335	0.49916	D	0.000126	T	0.26666	0.0652	N	0.14661	0.345	0.33721	D	0.617003	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.987	T	0.35748	-0.9776	10	0.46703	T	0.11	-25.3936	11.3208	0.49421	0.0:0.8042:0.1274:0.0684	.	673;673	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	L	673	ENSP00000268616:R673L	ENSP00000268616:R673L	R	-	2	0	ZCCHC14	86003399	1.000000	0.71417	1.000000	0.80357	0.012000	0.07955	4.554000	0.60760	0.718000	0.32166	-1.087000	0.02190	CGG		0.507	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		9	73	9	73	---	---	---	---
TSR1	55720	broad.mit.edu	37	17	2236286	2236286	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:2236286T>C	ENST00000301364.5	-	7	2353	c.1274A>G	c.(1273-1275)gAa>gGa	p.E425G	SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	425	Glu-rich.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATCCTCATGTTCCATATCATC	0.448																																						ENST00000301364.5																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1273-1275)gAa>gGa		TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)							178.0	161.0	167.0					17																	2236286		2203	4300	6503	SO:0001583	missense	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2236286T>C	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1274A>G	17.37:g.2236286T>C	ENSP00000301364:p.Glu425Gly						p.E425G	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN			7	2353	-						Glu-rich.		Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	c.1274A>G	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676652	0.29783	.	.	ENSG00000167721	ENST00000301364	T	0.13538	2.58	5.02	3.89	0.44902	.	0.803553	0.11541	N	0.553772	T	0.13286	0.0322	L	0.45352	1.415	0.09310	N	1	B	0.18863	0.031	B	0.18263	0.021	T	0.11203	-1.0597	10	0.30078	T	0.28	-8.6214	11.0598	0.47940	0.0:0.0:0.1549:0.8451	.	425	Q2NL82	TSR1_HUMAN	G	425	ENSP00000301364:E425G	ENSP00000301364:E425G	E	-	2	0	TSR1	2183036	0.981000	0.34729	0.381000	0.26106	0.562000	0.35680	4.198000	0.58419	2.101000	0.63845	0.528000	0.53228	GAA		0.448	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		5	28	5	28	---	---	---	---
ATG4D	84971	broad.mit.edu	37	19	10663643	10663643	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr19:10663643A>G	ENST00000309469.4	+	10	1498	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G|RNU7-140P_ENST00000459546.1_RNA|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	442					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGCCTGGACGACCTCTGCTCC	0.642																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(1324-1326)gAc>gGc		autophagy related 4D, cysteine peptidase							75.0	66.0	69.0					19																	10663643		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663643A>G	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1325A>G	19.37:g.10663643A>G	ENSP00000311318:p.Asp442Gly					ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G	p.D442G	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1498	+			442					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1325A>G	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.868207	0.32977	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.19	4.14	0.48551	.	1.045320	0.07391	N	0.889109	T	0.31071	0.0785	N	0.13098	0.295	0.32503	N	0.538584	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33879	-0.9851	9	0.36615	T	0.2	-11.3571	6.1855	0.20495	0.7524:0.164:0.0836:0.0	.	379;442	B4DGM8;Q86TL0	.;ATG4D_HUMAN	G	442;109	.	ENSP00000311318:D442G	D	+	2	0	ATG4D	10524643	1.000000	0.71417	0.966000	0.40874	0.885000	0.51271	3.126000	0.50477	0.876000	0.35872	0.533000	0.62120	GAC		0.642	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		3	61	3	61	---	---	---	---
