#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
HSD17B12	51144	broad.mit.edu	37	11	43876382	43876382	+	Silent	SNP	C	C	A			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr11:43876382C>A	ENST00000278353.4	+	10	921	c.802C>A	c.(802-804)Cga>Aga	p.R268R	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	268					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						CCTGCAATCCCGAACCAATGG	0.438																																					Ovarian(58;548 1143 13948 16572 34258)	ENST00000278353.4																			0				endometrium(2)|large_intestine(4)|lung(4)	10						c.(802-804)Cga>Aga		hydroxysteroid (17-beta) dehydrogenase 12							76.0	76.0	76.0					11																	43876382		2203	4300	6503	SO:0001819	synonymous_variant	51144				long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity	g.chr11:43876382C>A	AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.802C>A	11.37:g.43876382C>A						RP11-613D13.5_ENST00000530450.1_RNA	p.R268R	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN			10	921	+			268					A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Silent	SNP	ENST00000278353.4	37	c.802C>A	CCDS7905.1																																																																																				0.438	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389594.1			3	111	1	0	0.115264	0.115264	0.139963	3	111				
ADAMTS7	11173	broad.mit.edu	37	15	79059182	79059182	+	Missense_Mutation	SNP	T	T	C	rs143974743		TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr15:79059182T>C	ENST00000388820.4	-	19	3281	c.3071A>G	c.(3070-3072)cAc>cGc	p.H1024R	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1024					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.H1024R(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCCAGGTGGTGCGGGATGAA	0.682																																						ENST00000388820.4																			2	Substitution - Missense(2)	p.H1024R(2)	prostate(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3070-3072)cAc>cGc		ADAM metallopeptidase with thrombospondin type 1 motif, 7							17.0	17.0	17.0					15																	79059182		2183	4259	6442	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059182T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3071A>G	15.37:g.79059182T>C	ENSP00000373472:p.His1024Arg					ADAMTS7_ENST00000566303.1_5'UTR	p.H1024R	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3281	-			1024					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3071A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	0.666	-0.803681	0.02841	.	.	ENSG00000136378	ENST00000388820	T	0.57907	0.37	4.83	-9.16	0.00694	.	2.217080	0.02333	N	0.074160	T	0.19046	0.0457	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16988	-1.0384	10	0.10636	T	0.68	.	5.4954	0.16799	0.0918:0.2428:0.0964:0.5689	.	1024	Q9UKP4	ATS7_HUMAN	R	1024	ENSP00000373472:H1024R	ENSP00000373472:H1024R	H	-	2	0	ADAMTS7	76846237	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.261000	0.02855	-2.841000	0.00335	-2.713000	0.00133	CAC		0.682	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	32	0	0	0	0.115264	0	3	32				
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74808773	74808773	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr1:74808773G>A	ENST00000370899.3	+	11	1182	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D	RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.G382D|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.G395D|TNNI3K_ENST00000370891.2_Missense_Mutation_p.G382D|TNNI3K_ENST00000326637.3_Missense_Mutation_p.G281D	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.G281D(1)									TGCTACAATGGCAAATTTGAA	0.348																																						ENST00000370895.1																			1	Substitution - Missense(1)	p.G281D(1)	prostate(1)								c.(1144-1146)gGc>gAc									74.0	74.0	74.0					1																	74808773		2203	4300	6503	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74808773G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1145G>A	1.37:g.74808773G>A	ENSP00000359936:p.Gly382Asp					TNNI3K_ENST00000326637.3_Missense_Mutation_p.G281D|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.G382D|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.G382D|TNNI3K_ENST00000370891.2_Missense_Mutation_p.G382D	p.G382D			Q59H18	TNI3K_HUMAN			11	1180	+			281						Missense_Mutation	SNP	ENST00000370899.3	37	c.1145G>A		.	.	.	.	.	.	.	.	.	.	G	27.3	4.822584	0.90873	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.73897	-0.57;-0.57;-0.79;-0.79;-0.57	5.63	5.63	0.86233	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85093	0.5618	M	0.80332	2.49	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;0.985;0.979;1.0	T	0.82955	-0.0200	10	0.37606	T	0.19	.	19.6926	0.96008	0.0:0.0:1.0:0.0	.	281;382;382;382	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	D	382;382;382;382;281	ENSP00000359936:G382D;ENSP00000359932:G382D;ENSP00000450895:G382D;ENSP00000359928:G382D;ENSP00000322251:G281D	ENSP00000322251:G281D	G	+	2	0	RP11-653A5.2;AC093158.1	74581361	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.343000	0.97047	2.676000	0.91093	0.555000	0.69702	GGC		0.348	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3			4	94	0	0	0	0.150653	0	4	94				
FANCM	57697	broad.mit.edu	37	14	45605353	45605353	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr14:45605353C>A	ENST00000267430.5	+	1	204	c.119C>A	c.(118-120)gCg>gAg	p.A40E	FANCM_ENST00000556036.1_Missense_Mutation_p.A40E|FKBP3_ENST00000396062.3_5'Flank|FKBP3_ENST00000216330.3_5'Flank|FANCM_ENST00000542564.2_Missense_Mutation_p.A40E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	40					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.A40E(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGCTCCAAGGCGCCTTTGCCA	0.607								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			1	Substitution - Missense(1)	p.A40E(1)	prostate(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(118-120)gCg>gAg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							50.0	50.0	50.0					14																	45605353		2203	4299	6502	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605353C>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.119C>A	14.37:g.45605353C>A	ENSP00000267430:p.Ala40Glu					FANCM_ENST00000542564.2_Missense_Mutation_p.A40E|FANCM_ENST00000556036.1_Missense_Mutation_p.A40E	p.A40E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			1	204	+			40					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.119C>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256263	0.39896	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.11930	2.73;2.78;2.78	4.99	4.04	0.47022	.	1.142320	0.06677	N	0.767302	T	0.14227	0.0344	L	0.51422	1.61	0.09310	N	1	B;B;B	0.28552	0.215;0.215;0.034	B;B;B	0.26094	0.056;0.056;0.066	T	0.35375	-0.9791	10	0.07175	T	0.84	.	12.5126	0.56013	0.0:0.8304:0.1695:0.0	.	40;40;40	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	E	40	ENSP00000450596:A40E;ENSP00000267430:A40E;ENSP00000442493:A40E	ENSP00000267430:A40E	A	+	2	0	FANCM	44675103	0.001000	0.12720	0.051000	0.19133	0.587000	0.36485	0.935000	0.28924	2.311000	0.77944	0.462000	0.41574	GCG		0.607	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		4	83	1	0	0.150653	0.150653	0.170741	4	83				
CTD-2503O16.4	0	broad.mit.edu	37	5	74285946	74285946	+	lincRNA	DEL	T	T	-			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr5:74285946delT	ENST00000505200.1	-	0	212																											aattgctttcttttttttttt	0.383																																						ENST00000505200.1																			0																																																			0							g.chr5:74285946delT																													5.37:g.74285946delT														0	212	-									RNA	DEL	ENST00000505200.1	37																																																																																						0.383	CTD-2503O16.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370953.2			4	4						4	4	---	---	---	---
GOLGA2P5	55592	broad.mit.edu	37	12	100562920	100562921	+	RNA	INS	-	-	T	rs58822438		TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100562920_100562921insT																													12.37:g.100562931_100562931dupT								NR_036632.1						0	599	-								Q9NSV2	RNA	INS	ENST00000397112.4	37																																																																																						0.406	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			3	4						3	4	---	---	---	---
