#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
FSD1	79187	broad.mit.edu	37	19	4311908	4311908	+	Missense_Mutation	SNP	G	G	A	rs545061368		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr19:4311908G>A	ENST00000221856.6	+	7	707	c.560G>A	c.(559-561)cGc>cAc	p.R187H	FSD1_ENST00000597590.1_Missense_Mutation_p.R187H|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	187	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R187L(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGTGTGGCGCATGCCGGAT	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		16896	0.0		0.0	False		,,,				2504	0.001					ENST00000221856.6																			1	Substitution - Missense(1)	p.R187L(1)	large_intestine(1)	breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(559-561)cGc>cAc		fibronectin type III and SPRY domain containing 1							138.0	104.0	116.0					19																	4311908		2203	4300	6503	SO:0001583	missense	79187				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus		g.chr19:4311908G>A	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.560G>A	19.37:g.4311908G>A	ENSP00000221856:p.Arg187His					FSD1_ENST00000597590.1_Missense_Mutation_p.R187H|FSD1_ENST00000598010.1_3'UTR	p.R187H	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)	7	707	+			187			Fibronectin type-III.		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	ENST00000221856.6	37	c.560G>A	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383445	0.42207	.	.	ENSG00000105255	ENST00000221856	T	0.57436	0.4	5.33	3.2	0.36748	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.213055	0.39615	N	0.001304	T	0.48696	0.1514	M	0.71036	2.16	0.23809	N	0.996783	B	0.12013	0.005	B	0.20955	0.032	T	0.43163	-0.9408	10	0.38643	T	0.18	.	8.4299	0.32750	0.193:0.0:0.807:0.0	.	187	Q9BTV5	FSD1_HUMAN	H	187	ENSP00000221856:R187H	ENSP00000221856:R187H	R	+	2	0	FSD1	4262908	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	1.801000	0.38843	1.218000	0.43458	0.561000	0.74099	CGC		0.642	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458091.1	NM_024333		4	62	0	0	0	1	0	4	62				
CLIP1	6249	broad.mit.edu	37	12	122825338	122825338	+	Missense_Mutation	SNP	T	T	C			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr12:122825338T>C	ENST00000540338.1	-	10	2454	c.2413A>G	c.(2413-2415)Aaa>Gaa	p.K805E	CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000302528.7_Missense_Mutation_p.K794E|CLIP1_ENST00000358808.2_Missense_Mutation_p.K794E|CLIP1_ENST00000537178.1_Missense_Mutation_p.K759E|CLIP1_ENST00000361654.4_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	805					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCTAAATGTTTAATCTGTTTC	0.368																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2380-2382)Aaa>Gaa		CAP-GLY domain containing linker protein 1							103.0	107.0	106.0					12																	122825338		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825338T>C		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2413A>G	12.37:g.122825338T>C	ENSP00000439093:p.Lys805Glu					CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000302528.7_Missense_Mutation_p.K794E|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000540338.1_Missense_Mutation_p.K805E|CLIP1_ENST00000537178.1_Missense_Mutation_p.K759E	p.K794E	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	2534	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		805					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.2380A>G	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233114	0.39498	.	.	ENSG00000130779	ENST00000302528;ENST00000358808;ENST00000537178;ENST00000540338	T;T;T;T	0.75477	-0.94;-0.94;0.78;0.79	5.73	3.29	0.37713	.	0.470083	0.24359	N	0.039206	T	0.66376	0.2783	L	0.59436	1.845	0.26654	N	0.972049	P;P;P	0.38827	0.649;0.649;0.518	B;B;B	0.39840	0.311;0.311;0.164	T	0.53899	-0.8373	10	0.12766	T	0.61	-9.4091	8.3131	0.32084	0.0:0.0716:0.3122:0.6162	.	759;794;805	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	E	794;794;759;805	ENSP00000303585:K794E;ENSP00000351665:K794E;ENSP00000445531:K759E;ENSP00000439093:K805E	ENSP00000303585:K794E	K	-	1	0	CLIP1	121391291	1.000000	0.71417	0.483000	0.27378	0.997000	0.91878	1.578000	0.36525	0.485000	0.27652	0.533000	0.62120	AAA		0.368	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		4	79	0	0	0	1	0	4	79				
COLGALT2	23127	broad.mit.edu	37	1	183933121	183933121	+	Missense_Mutation	SNP	T	T	C			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr1:183933121T>C	ENST00000361927.4	-	6	1237	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	COLGALT2_ENST00000546159.1_Missense_Mutation_p.Y289C|COLGALT2_ENST00000367520.3_Missense_Mutation_p.Y26C	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	289					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CAGGTAGCCATAGTGCTCTCT	0.517																																						ENST00000361927.4																			0											c.(865-867)tAt>tGt		collagen beta(1-O)galactosyltransferase 2							142.0	114.0	123.0					1																	183933121		2203	4300	6503	SO:0001583	missense	23127							g.chr1:183933121T>C	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.866A>G	1.37:g.183933121T>C	ENSP00000354960:p.Tyr289Cys					COLGALT2_ENST00000546159.1_Missense_Mutation_p.Y289C|COLGALT2_ENST00000367520.3_Missense_Mutation_p.Y26C	p.Y289C	NM_015101.2	NP_055916.1					6	1237	-								O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	c.866A>G	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	T	19.14	3.768921	0.69878	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	T;T	0.60424	0.19;0.19	5.74	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.80248	0.4588	M	0.92459	3.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.996	D	0.83599	0.0127	10	0.87932	D	0	.	11.8976	0.52665	0.1308:0.0:0.0:0.8692	.	289;289;26	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	C	289;289;26	ENSP00000439112:Y289C;ENSP00000354960:Y289C	ENSP00000354960:Y289C	Y	-	2	0	GLT25D2	182199744	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.831000	0.69330	0.938000	0.37419	0.533000	0.62120	TAT		0.517	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101		9	29	0	0	0	1	0	9	29				
METAP1D	254042	broad.mit.edu	37	2	172928475	172928475	+	Missense_Mutation	SNP	G	G	C			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr2:172928475G>C	ENST00000315796.4	+	3	622	c.235G>C	c.(235-237)Gta>Cta	p.V79L	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	79					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						GACAGGCATTGTACCAGACTG	0.483																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(235-237)Gta>Cta		methionyl aminopeptidase type 1D (mitochondrial)							111.0	91.0	98.0					2																	172928475		2203	4300	6503	SO:0001583	missense	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172928475G>C	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.235G>C	2.37:g.172928475G>C	ENSP00000315152:p.Val79Leu					METAP1D_ENST00000488581.1_3'UTR	p.V79L	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			3	622	+			79					Q1WNX3	Missense_Mutation	SNP	ENST00000315796.4	37	c.235G>C	CCDS2246.1	.	.	.	.	.	.	.	.	.	.	G	15.16	2.749526	0.49257	.	.	ENSG00000172878	ENST00000315796	T	0.42131	0.98	5.49	5.49	0.81192	Peptidase M24, structural domain (1);	0.055265	0.64402	D	0.000001	T	0.45276	0.1334	M	0.64170	1.965	0.80722	D	1	B	0.20052	0.041	B	0.17098	0.017	T	0.29579	-1.0007	10	0.34782	T	0.22	-5.989	19.7404	0.96228	0.0:0.0:1.0:0.0	.	79	Q6UB28	AMP1D_HUMAN	L	79	ENSP00000315152:V79L	ENSP00000315152:V79L	V	+	1	0	METAP1D	172636721	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.024000	0.64090	2.734000	0.93682	0.655000	0.94253	GTA		0.483	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		3	31	0	0	0	1	0	3	31				
TPTE2P6	374491	broad.mit.edu	37	13	25161438	25161438	+	RNA	SNP	T	T	A	rs3869320		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr13:25161438T>A	ENST00000453498.1	+	0	962				TPTE2P6_ENST00000440905.1_RNA																							CTCTTTATAATAAGATTCATT	0.378																																						ENST00000453498.1																			0																																																			374491							g.chr13:25161438T>A																													13.37:g.25161438T>A														0	962	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.378	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			3	45	0	0	0	1	0	3	45				
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																						ENST00000333822.4																			4	Substitution - Missense(4)	p.C95S(4)	endometrium(3)|kidney(1)	endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						c.(283-285)Tgc>Agc		keratin associated protein 4-8							7.0	11.0	10.0					17																	39254054		685	1582	2267	SO:0001583	missense	728224					keratin filament		g.chr17:39254054A>T	AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser						p.C95S	NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN			1	339	-			95			25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	c.283T>A	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		0.677	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960		3	28	0	0	0	1	0	3	28				
MED13L	23389	broad.mit.edu	37	12	116413346	116413346	+	Silent	SNP	G	G	A	rs139063441		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr12:116413346G>A	ENST00000281928.3	-	24	5768	c.5562C>T	c.(5560-5562)tgC>tgT	p.C1854C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1854						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TATTTACAACGCAGGTCTCTA	0.418																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(5560-5562)tgC>tgT		mediator complex subunit 13-like		G		1,4405	2.1+/-5.4	0,1,2202	66.0	63.0	64.0		5562	1.8	1.0	12	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous	MED13L	NM_015335.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1854/2211	116413346	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116413346G>A	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.5562C>T	12.37:g.116413346G>A							p.C1854C	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	24	5768	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1854					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.5562C>T	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	9.749	1.166886	0.21621	2.27E-4	0.0	ENSG00000123066	ENST00000552447	.	.	.	5.86	1.81	0.25067	.	.	.	.	.	T	0.58850	0.2151	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51545	-0.8692	4	.	.	.	.	10.2501	0.43364	0.37:0.0:0.63:0.0	.	.	.	.	C	47	.	.	R	-	1	0	MED13L	114897729	1.000000	0.71417	0.969000	0.41365	0.995000	0.86356	1.519000	0.35888	0.112000	0.17975	0.650000	0.86243	CGT		0.418	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			3	44	0	0	0	1	0	3	44				
SLC7A5	8140	broad.mit.edu	37	16	87866625	87866625	+	Missense_Mutation	SNP	G	G	A	rs144253961		TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr16:87866625G>A	ENST00000261622.4	-	10	1540	c.1475C>T	c.(1474-1476)aCg>aTg	p.T492M	SLC7A5_ENST00000565644.1_Missense_Mutation_p.T226M	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	492					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CAGGACGGTCGTGGAGACTGT	0.647																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(1474-1476)aCg>aTg		solute carrier family 7 (amino acid transporter light chain, L system), member 5		A	MET/THR	1,4395	2.1+/-5.4	0,1,2197	134.0	141.0	138.0		1475	-0.1	0.0	16	dbSNP_134	138	0,8600		0,0,4300	no	missense	SLC7A5	NM_003486.5	81	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	492/508	87866625	1,12995	2198	4300	6498	SO:0001583	missense	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87866625G>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.1475C>T	16.37:g.87866625G>A	ENSP00000261622:p.Thr492Met					SLC7A5_ENST00000565644.1_Missense_Mutation_p.T226M	p.T492M	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	10	1540	-			492					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Missense_Mutation	SNP	ENST00000261622.4	37	c.1475C>T	CCDS10964.1	.	.	.	.	.	.	.	.	.	.	g	1.003	-0.690416	0.03303	2.27E-4	0.0	ENSG00000103257	ENST00000261622	D	0.90900	-2.75	5.2	-0.137	0.13469	.	0.773297	0.11727	N	0.535269	T	0.71264	0.3319	N	0.01048	-1.04	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.62450	-0.6852	10	0.34782	T	0.22	.	7.9718	0.30132	0.4249:0.0:0.5751:0.0	.	492	Q01650	LAT1_HUMAN	M	492	ENSP00000261622:T492M	ENSP00000261622:T492M	T	-	2	0	SLC7A5	86424126	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.719000	0.25881	-0.018000	0.14079	-1.212000	0.01626	ACG		0.647	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		4	119	0	0	0	1	0	4	119				
IGDCC4	57722	broad.mit.edu	37	15	65678300	65678300	+	Missense_Mutation	SNP	C	C	G			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr15:65678300C>G	ENST00000352385.2	-	18	3258	c.3049G>C	c.(3049-3051)Gaa>Caa	p.E1017Q	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1017						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GACTCCAATTCATGGGCAGCT	0.677											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3049-3051)Gaa>Caa		immunoglobulin superfamily, DCC subclass, member 4							13.0	15.0	14.0					15																	65678300		2153	4239	6392	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65678300C>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3049G>C	15.37:g.65678300C>G	ENSP00000319623:p.Glu1017Gln		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.E1017Q	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN			18	3258	-			1017					Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3049G>C	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.044321	0.55110	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.62639	0.01	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000017	T	0.74053	0.3666	L	0.55481	1.735	0.38802	D	0.955218	D	0.89917	1.0	D	0.66716	0.946	T	0.77194	-0.2677	10	0.56958	D	0.05	-15.4077	16.2555	0.82515	0.0:1.0:0.0:0.0	.	1017	Q8TDY8	IGDC4_HUMAN	Q	1017;746	ENSP00000319623:E1017Q	ENSP00000319623:E1017Q	E	-	1	0	IGDCC4	63465353	1.000000	0.71417	0.993000	0.49108	0.046000	0.14306	4.821000	0.62679	2.503000	0.84419	0.561000	0.74099	GAA		0.677	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		9	30	0	0	0	1	0	9	30				
OGDHL	55753	broad.mit.edu	37	10	50946031	50946031	+	Missense_Mutation	SNP	C	C	T			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr10:50946031C>T	ENST00000374103.4	-	19	2564	c.2479G>A	c.(2479-2481)Gtg>Atg	p.V827M	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.V618M|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	827					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGGCGCAGCACGTGGAAGTAG	0.652																																						ENST00000374103.4																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						c.(2479-2481)Gtg>Atg		oxoglutarate dehydrogenase-like							196.0	186.0	189.0					10																	50946031		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50946031C>T	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2479G>A	10.37:g.50946031C>T	ENSP00000363216:p.Val827Met					OGDHL_ENST00000432695.1_Missense_Mutation_p.V618M|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.V770M	p.V827M	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN			19	2564	-			827					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.2479G>A	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588378	0.66105	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.91577	-2.87;-2.87;-2.87	4.84	4.84	0.62591	Transketolase-like, pyrimidine-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.87026	0.6075	L	0.35542	1.07	0.80722	D	1	P;P;P	0.40619	0.677;0.677;0.724	B;B;B	0.39068	0.092;0.143;0.289	D	0.89078	0.3474	10	0.87932	D	0	.	17.9498	0.89048	0.0:1.0:0.0:0.0	.	770;618;827	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	M	827;770;618	ENSP00000363216:V827M;ENSP00000401356:V770M;ENSP00000390240:V618M	ENSP00000363216:V827M	V	-	1	0	OGDHL	50616037	0.999000	0.42202	0.999000	0.59377	0.997000	0.91878	4.072000	0.57563	2.222000	0.72286	0.650000	0.86243	GTG		0.652	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		5	177	0	0	0	1	0	5	177				
C6orf211	79624	broad.mit.edu	37	6	151790032	151790032	+	Silent	SNP	G	G	A			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr6:151790032G>A	ENST00000367294.3	+	5	1372	c.1113G>A	c.(1111-1113)agG>agA	p.R371R	C6orf211_ENST00000545879.1_Silent_p.R252R	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	371										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TGAATTACAGGAAGTTGACAG	0.413																																						ENST00000367294.3																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(1111-1113)agG>agA		chromosome 6 open reading frame 211							76.0	80.0	78.0					6																	151790032		2203	4300	6503	SO:0001819	synonymous_variant	79624						protein binding	g.chr6:151790032G>A	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.1113G>A	6.37:g.151790032G>A						C6orf211_ENST00000545879.1_Silent_p.R252R	p.R371R	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	5	1372	+			371					Q96FC6|Q9UFY5	Silent	SNP	ENST00000367294.3	37	c.1113G>A	CCDS5233.1																																																																																				0.413	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573		18	60	0	0	0	1	0	18	60				
PREB	10113	broad.mit.edu	37	2	27355237	27355237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr2:27355237G>A	ENST00000260643.2	-	6	1040	c.787C>T	c.(787-789)Cga>Tga	p.R263*	PREB_ENST00000406567.3_Intron|PREB_ENST00000416802.1_5'Flank	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	263					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGAAGAGTCGCAGGCCAGCA	0.627																																						ENST00000260643.2																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						c.(787-789)Cga>Tga		prolactin regulatory element binding							32.0	39.0	37.0					2																	27355237		2200	4297	6497	SO:0001587	stop_gained	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27355237G>A		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.787C>T	2.37:g.27355237G>A	ENSP00000260643:p.Arg263*					PREB_ENST00000406567.3_Intron	p.R263*	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN			6	1040	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		263					Q53SZ8|Q9UH94	Nonsense_Mutation	SNP	ENST00000260643.2	37	c.787C>T	CCDS1738.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.740606|4.740606	0.89573|0.89573	.|.	.|.	ENSG00000138073|ENSG00000138073	ENST00000456259;ENST00000430533|ENST00000260643;ENST00000546336	.|.	.|.	.|.	5.97|5.97	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.34077|.	0.0885|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.43861|.	-0.9365|.	3|.	.|0.13108	.|T	.|0.6	-9.3881|-9.3881	7.7354|7.7354	0.28810|0.28810	0.0807:0.0:0.7553:0.1639|0.0807:0.0:0.7553:0.1639	.|.	.|.	.|.	.|.	V|X	6;18|263	.|.	.|ENSP00000260643:R263X	A|R	-|-	2|1	0|2	PREB|PREB	27208741|27208741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	3.755000|3.755000	0.55197|0.55197	1.494000|1.494000	0.48533|0.48533	0.655000|0.655000	0.94253|0.94253	GCG|CGA		0.627	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		6	30	0	0	0	1	0	6	30				
TBXA2R	6915	broad.mit.edu	37	19	3600626	3600626	+	Missense_Mutation	SNP	G	G	A			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr19:3600626G>A	ENST00000375190.4	-	2	400	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000411851.3_Missense_Mutation_p.P3S|TBXA2R_ENST00000589966.1_Missense_Mutation_p.P3S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	3					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CTGCCGTTGGGCCACATGGCT	0.657																																						ENST00000375190.4																			0				kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8						c.(7-9)Ccc>Tcc		thromboxane A2 receptor	Ridogrel(DB01207)						13.0	14.0	14.0					19																	3600626		2012	4097	6109	SO:0001583	missense	6915				platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	g.chr19:3600626G>A		CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.7C>T	19.37:g.3600626G>A	ENSP00000364336:p.Pro3Ser					TBXA2R_ENST00000411851.3_Missense_Mutation_p.P3S|TBXA2R_ENST00000589966.1_Missense_Mutation_p.P3S	p.P3S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	2	400	-		Hepatocellular(1079;0.137)	3					O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	c.7C>T	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693601	0.30052	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.38077	1.44;1.16	4.77	-4.39	0.03611	.	1.559050	0.04106	U	0.313694	T	0.15782	0.0380	N	0.08118	0	0.27040	N	0.964027	B;B	0.18461	0.003;0.028	B;B	0.13407	0.001;0.009	T	0.17501	-1.0367	10	0.52906	T	0.07	-25.5092	1.2785	0.02036	0.2749:0.2587:0.3351:0.1312	.	3;3	P21731;E2QRJ2	TA2R_HUMAN;.	S	3	ENSP00000393333:P3S;ENSP00000364336:P3S	ENSP00000364336:P3S	P	-	1	0	TBXA2R	3551626	0.059000	0.20769	0.930000	0.37139	0.104000	0.19210	-0.844000	0.04345	-0.410000	0.07542	-0.389000	0.06534	CCC		0.657	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2			3	17	0	0	0	1	0	3	17				
HAPLN2	60484	broad.mit.edu	37	1	156593628	156593628	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr1:156593628delC	ENST00000255039.1	+	4	522	c.115delC	c.(115-117)cccfs	p.P40fs		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	40	Ig-like V-type.				cell adhesion (GO:0007155)|establishment of blood-nerve barrier (GO:0008065)|extracellular matrix assembly (GO:0085029)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTACCTCCTGCCCCCCATCCA	0.677																																						ENST00000255039.1																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(115-117)ccfs		hyaluronan and proteoglycan link protein 2							9.0	10.0	9.0					1																	156593628		2076	4093	6169	SO:0001589	frameshift_variant	60484				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr1:156593628delC	AB049054	CCDS1148.1	1q23.1	2013-01-11			ENSG00000132702	ENSG00000132702		"""Immunoglobulin superfamily / V-set domain containing"""	17410	protein-coding gene	gene with protein product	"""brain link protein 1"""					11027579, 11873941	Standard	NM_021817		Approved	BRAL1	uc001fpn.1	Q9GZV7	OTTHUMG00000033205	ENST00000255039.1:c.115delC	1.37:g.156593628delC	ENSP00000255039:p.Pro40fs						p.P40fs	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN			4	522	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		40			Ig-like V-type.		Q5T3J0	Frame_Shift_Del	DEL	ENST00000255039.1	37	c.115delC	CCDS1148.1																																																																																				0.677	HAPLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081039.1	NM_021817		3	6						3	6	---	---	---	---
SNX29P2	440352	broad.mit.edu	37	16	29339899	29339899	+	lincRNA	DEL	C	C	-			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr16:29339899delC	ENST00000398878.3	+	0	887							Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		CTCCACATCGCCAAGGTGCCA	0.537																																						ENST00000398878.3																			0																																																			440352							g.chr16:29339899delC	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29339899delC														0	887	+									RNA	DEL	ENST00000398878.3	37																																																																																						0.537	SNX29P2-202	KNOWN	basic	lincRNA	lincRNA		NR_002939		2	4						2	4	---	---	---	---
NECAB3	63941	broad.mit.edu	37	20	32247350	32247350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr20:32247350delG	ENST00000246190.6	-	8	887	c.832delC	c.(832-834)cggfs	p.R278fs	NECAB3_ENST00000375238.4_Frame_Shift_Del_p.R244fs|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	278					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GGTTCCAGCCGGGGGGCCTGT	0.697																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(832-834)ggfs		N-terminal EF-hand calcium binding protein 3							6.0	9.0	8.0					20																	32247350		1843	4046	5889	SO:0001589	frameshift_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32247350delG	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.832delC	20.37:g.32247350delG	ENSP00000246190:p.Arg278fs					NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Frame_Shift_Del_p.R244fs	p.R278fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			8	887	-			278					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	c.832delC	CCDS42866.1																																																																																				0.697	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			2	4						2	4	---	---	---	---
NECAB3	63941	broad.mit.edu	37	20	32247387	32247387	+	Frame_Shift_Del	DEL	C	C	-			TCGA-SP-A6QI-01A-12D-A35I-08	TCGA-SP-A6QI-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94725038-c898-4b46-9824-db0017cb2bf3	9fc1e083-c82d-4fda-96e7-7374254e8d0c	g.chr20:32247387delC	ENST00000246190.6	-	8	850	c.795delG	c.(793-795)tggfs	p.W265fs	NECAB3_ENST00000375238.4_Intron|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank|NECAB3_ENST00000606525.1_Intron	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	265					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						GGCCGGGCCTCCAGCATGGGC	0.687																																						ENST00000246190.6																			0				large_intestine(3)|lung(5)|skin(2)	10						c.(793-795)tgfs		N-terminal EF-hand calcium binding protein 3							8.0	12.0	11.0					20																	32247387		1872	4087	5959	SO:0001589	frameshift_variant	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32247387delC	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.795delG	20.37:g.32247387delC	ENSP00000246190:p.Trp265fs					NECAB3_ENST00000606525.1_Intron|NECAB3_ENST00000375238.4_Intron	p.W265fs	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			8	850	-			265					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Frame_Shift_Del	DEL	ENST00000246190.6	37	c.795delG	CCDS42866.1																																																																																				0.687	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			2	4						2	4	---	---	---	---
