#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
SAP18	10284	broad.mit.edu	37	13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A	rs376710499		TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr13:21721465G>A	ENST00000607003.1	+	4	478	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SAP18_ENST00000382533.4_Missense_Mutation_p.R168H			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403																																						ENST00000382533.4																			1	Substitution - Missense(1)	p.R149H(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(4)	6						c.(502-504)cGc>cAc		Sin3A-associated protein, 18kDa		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	109.0	107.0		503	4.1	1.0	13		107	0,8600		0,0,4300	no	missense	SAP18	NM_005870.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	168/173	21721465	1,13005	2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721465G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.446G>A	13.37:g.21721465G>A	ENSP00000475925:p.Arg149His					SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	p.R168H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	542	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	149					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617576	0.66787	2.27E-4	0.0	ENSG00000150459	ENST00000382533	.	.	.	5.87	4.11	0.48088	.	0.141472	0.64402	D	0.000005	T	0.68559	0.3014	M	0.84683	2.71	0.58432	D	0.999997	B	0.14438	0.01	B	0.11329	0.006	T	0.66139	-0.5998	9	0.52906	T	0.07	-1.9179	10.9028	0.47062	0.0671:0.0:0.802:0.1309	.	149	O00422	SAP18_HUMAN	H	168	.	ENSP00000371973:R168H	R	+	2	0	SAP18	20619465	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.718000	0.98758	0.790000	0.33803	0.655000	0.94253	CGC		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		4	117	0	0	0	0.009096	0	4	117				
NOTCH4	4855	broad.mit.edu	37	6	32171985	32171985	+	Missense_Mutation	SNP	T	T	G			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr6:32171985T>G	ENST00000375023.3	-	19	3185	c.3047A>C	c.(3046-3048)cAc>cCc	p.H1016P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1016	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCCTGTGGGGTGGCAGGGCTG	0.617																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(3046-3048)cAc>cCc		notch 4							69.0	52.0	58.0					6																	32171985		1509	2707	4216	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32171985T>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3047A>C	6.37:g.32171985T>G	ENSP00000364163:p.His1016Pro						p.H1016P	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN			19	3185	-			1016			EGF-like 26.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3047A>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.959281	0.74016	.	.	ENSG00000204301	ENST00000375023	D	0.87412	-2.25	4.77	4.77	0.60923	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.142165	0.32518	N	0.005985	D	0.86293	0.5898	L	0.41079	1.255	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	D	0.86034	0.1515	9	.	.	.	.	12.2933	0.54831	0.0:0.0:0.0:1.0	.	1016	Q99466	NOTC4_HUMAN	P	1016	ENSP00000364163:H1016P	.	H	-	2	0	NOTCH4	32279963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.453000	0.60061	2.013000	0.59113	0.459000	0.35465	CAC		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			7	24	0	0	0	0.004482	0	7	24				
CCDC89	220388	broad.mit.edu	37	11	85396623	85396623	+	Missense_Mutation	SNP	T	T	C			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr11:85396623T>C	ENST00000316398.3	-	1	697	c.551A>G	c.(550-552)gAg>gGg	p.E184G	CREBZF_ENST00000534224.1_5'Flank|CREBZF_ENST00000531515.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	184						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AGTGAGGGCCTCACACCGGAC	0.587																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(550-552)gAg>gGg		coiled-coil domain containing 89							122.0	114.0	117.0					11																	85396623		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396623T>C	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.551A>G	11.37:g.85396623T>C	ENSP00000320649:p.Glu184Gly						p.E184G	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	697	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	184						Missense_Mutation	SNP	ENST00000316398.3	37	c.551A>G	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	t	8.037	0.762928	0.15914	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.79	4.65	0.58169	.	0.505445	0.21147	N	0.079393	T	0.26048	0.0635	L	0.43923	1.385	0.09310	N	1	P	0.38504	0.634	B	0.33620	0.167	T	0.14309	-1.0477	8	.	.	.	-2.9858	6.9545	0.24563	0.0:0.0768:0.2833:0.6399	.	184	Q8N998	CCD89_HUMAN	G	184	.	.	E	-	2	0	CCDC89	85074271	0.003000	0.15002	0.378000	0.26068	0.135000	0.20990	1.264000	0.33015	0.992000	0.38840	0.529000	0.55759	GAG		0.587	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		3	147	0	0	0	0.004672	0	3	147				
ANKRD17	26057	broad.mit.edu	37	4	73957562	73957562	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:73957562G>A	ENST00000358602.4	-	29	5899	c.5783C>T	c.(5782-5784)cCt>cTt	p.P1928L	ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1677L|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1815L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1928					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCCTGACAGGAAACGGACC	0.532																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5782-5784)cCt>cTt		ankyrin repeat domain 17							86.0	82.0	83.0					4																	73957562		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957562G>A	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5783C>T	4.37:g.73957562G>A	ENSP00000351416:p.Pro1928Leu					ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1815L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1677L	p.P1928L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	5899	-	Breast(15;0.000295)		1928					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5783C>T	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762073	0.69763	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.70282	-0.47;-0.47;-0.42	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000003	D	0.82527	0.5056	L	0.55990	1.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.996;0.996	T	0.83346	-0.0005	10	0.87932	D	0	.	19.7368	0.96210	0.0:0.0:1.0:0.0	.	1927;1677;1928;1815	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	L	1928;1335;1677;1815;312	ENSP00000351416:P1928L;ENSP00000332265:P1677L;ENSP00000427151:P1815L	ENSP00000332265:P1677L	P	-	2	0	ANKRD17	74176426	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.672000	0.90937	0.460000	0.39030	CCT		0.532	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		3	89	0	0	0	0.004672	0	3	89				
ATAD2	29028	broad.mit.edu	37	8	124382203	124382203	+	Missense_Mutation	SNP	T	T	A	rs145837201	byFrequency	TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr8:124382203T>A	ENST00000287394.5	-	7	896	c.789A>T	c.(787-789)gaA>gaT	p.E263D	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_De_novo_Start_OutOfFrame	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	263	Asp-rich.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			catcatcatcttcatcatctt	0.368													T|||	89	0.0177716	0.0643	0.0014	5008	,	,		18421	0.001		0.001	False		,,,				2504	0.001					ENST00000521903.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48								ATPase family, AAA domain containing 2							209.0	164.0	179.0					8																	124382203		2203	4300	6503	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124382203T>A	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.789A>T	8.37:g.124382203T>A	ENSP00000287394:p.Glu263Asp					ATAD2_ENST00000287394.5_Missense_Mutation_p.E263D				Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		0	1153	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)							Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Translation_Start_Site	SNP	ENST00000287394.5	37		CCDS6343.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.099214	0.00360	.	.	ENSG00000156802	ENST00000287394	T	0.04809	3.55	2.98	-5.97	0.02227	.	1.406890	0.03875	N	0.276288	T	0.01695	0.0054	N	0.01352	-0.895	0.47476	D	0.999434	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.45352	-0.9267	10	0.12766	T	0.61	.	7.5563	0.27827	0.363:0.0947:0.0:0.5423	.	93;263	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	D	263	ENSP00000287394:E263D	ENSP00000287394:E263D	E	-	3	2	ATAD2	124451384	0.047000	0.20315	0.000000	0.03702	0.000000	0.00434	-0.834000	0.04391	-3.836000	0.00101	-5.200000	0.00001	GAA		0.368	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		3	32	0	0	0	0.009096	0	3	32				
CYP2U1	113612	broad.mit.edu	37	4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr4:108866315C>T	ENST00000332884.6	+	2	955	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	227					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438																																						ENST00000332884.6																			0				breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10						c.(679-681)gCc>gTc		cytochrome P450, family 2, subfamily U, polypeptide 1							138.0	134.0	135.0					4																	108866315		2203	4300	6503	SO:0001583	missense	113612				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr4:108866315C>T	BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.680C>T	4.37:g.108866315C>T	ENSP00000333212:p.Ala227Val					CYP2U1_ENST00000508453.1_Missense_Mutation_p.A18V|RP11-286E11.1_ENST00000513071.1_RNA	p.A227V	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000128)	2	955	+		Hepatocellular(203;0.217)	227					B2RMV7|Q96EQ6	Missense_Mutation	SNP	ENST00000332884.6	37	c.680C>T	CCDS34047.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974651	0.92919	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	T;T	0.69435	-0.4;-0.4	5.63	5.63	0.86233	.	0.101545	0.64402	D	0.000002	D	0.83871	0.5348	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85220	0.1026	10	0.62326	D	0.03	.	19.32	0.94234	0.0:1.0:0.0:0.0	.	227	Q7Z449	CP2U1_HUMAN	V	227;184;18	ENSP00000333212:A227V;ENSP00000423667:A18V	ENSP00000333212:A227V	A	+	2	0	CYP2U1	109085764	1.000000	0.71417	0.951000	0.38953	0.973000	0.67179	5.759000	0.68785	2.652000	0.90054	0.655000	0.94253	GCC		0.438	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363691.2	NM_183075		4	76	0	0	0	0.009096	0	4	76				
MCMBP	79892	broad.mit.edu	37	10	121612707	121612707	+	Splice_Site	SNP	G	G	A	rs111837774		TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:121612707G>A	ENST00000360003.3	-	6	599		c.e6-1		MCMBP_ENST00000466047.1_Intron|MCMBP_ENST00000369077.3_Splice_Site	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TAACATAGGCGTTAAACGAAA	0.363																																						ENST00000360003.3																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						c.e6-1		minichromosome maintenance complex binding protein							208.0	182.0	190.0					10																	121612707		2203	4300	6503	SO:0001630	splice_region_variant	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121612707G>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.430-1C>T	10.37:g.121612707G>A						MCMBP_ENST00000369077.3_Splice_Site|MCMBP_ENST00000466047.1_Intron		NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN			6	599	-								B3KSP7|Q6IA56|Q9BVT9|Q9H916	Splice_Site	SNP	ENST00000360003.3	37		CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249790	0.80024	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7333	0.88384	0.0:0.122:0.878:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCMBP	121602697	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.881000	0.56152	2.941000	0.99782	0.655000	0.94253	.		0.363	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	Intron	10	80	0	0	0	0.008291	0	10	80				
RAI14	26064	broad.mit.edu	37	5	34811917	34811917	+	Silent	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr5:34811917G>A	ENST00000265109.3	+	9	890	c.603G>A	c.(601-603)gtG>gtA	p.V201V	RAI14_ENST00000506376.1_Silent_p.V193V|RAI14_ENST00000397449.1_Silent_p.V194V|RAI14_ENST00000512629.1_Silent_p.V201V|RAI14_ENST00000428746.2_Silent_p.V201V|RAI14_ENST00000503673.1_Silent_p.V201V|RAI14_ENST00000515799.1_Silent_p.V204V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	201						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTAACGCTGTGGAAGCCTTAA	0.378																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(601-603)gtG>gtA		retinoic acid induced 14							71.0	74.0	73.0					5																	34811917		2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811917G>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.603G>A	5.37:g.34811917G>A						RAI14_ENST00000397449.1_Silent_p.V194V|RAI14_ENST00000512629.1_Silent_p.V201V|RAI14_ENST00000503673.1_Silent_p.V201V|RAI14_ENST00000428746.2_Silent_p.V201V|RAI14_ENST00000506376.1_Silent_p.V193V|RAI14_ENST00000515799.1_Silent_p.V204V	p.V201V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN			9	890	+	all_lung(31;0.000191)		201					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.603G>A	CCDS34142.1																																																																																				0.378	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		7	52	0	0	0	0.006214	0	7	52				
C10orf12	26148	broad.mit.edu	37	10	98742786	98742786	+	Missense_Mutation	SNP	A	A	G			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr10:98742786A>G	ENST00000286067.2	+	1	1746	c.1639A>G	c.(1639-1641)Aaa>Gaa	p.K547E		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	547										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAACGTTCAAAAAAAGAAGG	0.443																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(1639-1641)Aaa>Gaa		chromosome 10 open reading frame 12							59.0	70.0	66.0					10																	98742786		2202	4300	6502	SO:0001583	missense	26148							g.chr10:98742786A>G	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1639A>G	10.37:g.98742786A>G	ENSP00000286067:p.Lys547Glu						p.K547E	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	1746	+		Colorectal(252;0.172)	547					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.1639A>G	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	8.687	0.906564	0.17833	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.10960	2.82	5.82	3.47	0.39725	.	0.530281	0.17255	N	0.180981	T	0.09113	0.0225	L	0.34521	1.04	0.27948	N	0.937272	B	0.18461	0.028	B	0.22386	0.039	T	0.19943	-1.0290	10	0.59425	D	0.04	-10.3251	7.6678	0.28441	0.7888:0.1404:0.0708:0.0	.	547	Q8N655	CJ012_HUMAN	E	547;381	ENSP00000286067:K547E	ENSP00000286067:K547E	K	+	1	0	C10orf12	98732776	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	2.549000	0.45803	0.462000	0.27095	-0.488000	0.04728	AAA		0.443	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		8	54	0	0	0	0.004482	0	8	54				
MGAT3	4248	broad.mit.edu	37	22	39883399	39883399	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr22:39883399G>A	ENST00000341184.6	+	2	262	c.47G>A	c.(46-48)gGc>gAc	p.G16D		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	16					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGTATGGCCGGCCTGTGCCTC	0.562																																						ENST00000341184.6																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(46-48)gGc>gAc		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							209.0	200.0	203.0					22																	39883399		2203	4300	6503	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883399G>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.47G>A	22.37:g.39883399G>A	ENSP00000345270:p.Gly16Asp						p.G16D	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN			2	262	+	Melanoma(58;0.04)		16					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.47G>A	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417569	0.83449	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.68641	0.3023	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.72494	-0.4276	9	0.87932	D	0	.	18.6374	0.91383	0.0:0.0:1.0:0.0	.	16	Q09327	MGAT3_HUMAN	D	16;16;44	.	ENSP00000345270:G16D	G	+	2	0	MGAT3	38213345	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.210000	0.77924	2.397000	0.81536	0.467000	0.42956	GGC		0.562	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		4	212	0	0	0	0.009096	0	4	212				
SIGLEC16	400709	broad.mit.edu	37	19	50473221	50473221	+	RNA	SNP	T	T	C	rs440731	byFrequency	TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr19:50473221T>C	ENST00000602139.1	+	0	222							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.W65R(3)		endometrium(2)|kidney(2)|lung(6)	10						GTTCAAAGGATGGACCAGCCC	0.602													T|||	728	0.145367	0.3162	0.049	5008	,	,		12105	0.128		0.0368	False		,,,				2504	0.1125					ENST00000602139.1																			3	Substitution - Missense(3)	p.W65R(3)	endometrium(2)|prostate(1)	endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50473221T>C	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50473221T>C														0	222	+									RNA	SNP	ENST00000602139.1	37			.	.	.	.	.	.	.	.	.	.	T	0.001	-3.498236	0.00010	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	-3.85	0.04243	.	1.955520	0.02343	N	0.075085	T	0.10594	0.0259	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.24584	-1.0156	5	0.06625	T	0.88	.	0.872	0.01216	0.1596:0.2304:0.3802:0.2299	rs440731	.	.	.	R	77;65	.	ENSP00000396157:W77R	W	+	1	0	SIGLEC16	55165033	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.343000	0.01099	-5.206000	0.00019	-3.107000	0.00063	TGG		0.602	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		4	30	0	0	0	0.009096	0	4	30				
ZNF677	342926	broad.mit.edu	37	19	53740670	53740670	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr19:53740670C>T	ENST00000598513.1	-	5	1460	c.1310G>A	c.(1309-1311)gGc>gAc	p.G437D	ZNF677_ENST00000333952.4_Missense_Mutation_p.G437D	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	437					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AAAAGCCCTGCCACACACATT	0.368																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1309-1311)gGc>gAc		zinc finger protein 677							47.0	44.0	45.0					19																	53740670		2203	4300	6503	SO:0001583	missense	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740670C>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1310G>A	19.37:g.53740670C>T	ENSP00000469391:p.Gly437Asp					ZNF677_ENST00000598513.1_Missense_Mutation_p.G437D	p.G437D			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1475	-			437						Missense_Mutation	SNP	ENST00000598513.1	37	c.1310G>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936199	0.34189	.	.	ENSG00000197928	ENST00000333952	T	0.58358	0.34	2.21	0.0737	0.14392	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.220904	0.23270	N	0.050030	T	0.27559	0.0677	N	0.11000	0.08	0.26011	N	0.981984	B	0.27594	0.182	B	0.28553	0.091	T	0.14699	-1.0463	10	0.59425	D	0.04	.	4.778	0.13189	0.0:0.5141:0.0:0.4859	.	437	Q86XU0	ZN677_HUMAN	D	437	ENSP00000334394:G437D	ENSP00000334394:G437D	G	-	2	0	ZNF677	58432482	0.015000	0.18098	0.754000	0.31244	0.882000	0.50991	0.154000	0.16343	0.082000	0.17018	0.655000	0.94253	GGC		0.368	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		3	34	0	0	0	0.004672	0	3	34				
PTPRZ1	5803	broad.mit.edu	37	7	121651637	121651637	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr7:121651637C>T	ENST00000393386.2	+	12	2948	c.2537C>T	c.(2536-2538)aCt>aTt	p.T846I	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	846					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCACAAGTTACTTCAGCTACC	0.473																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(2536-2538)aCt>aTt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							149.0	136.0	141.0					7																	121651637		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121651637C>T	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2537C>T	7.37:g.121651637C>T	ENSP00000377047:p.Thr846Ile					PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	p.T846I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	2948	+			846					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.2537C>T	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702505	0.68501	.	.	ENSG00000106278	ENST00000393386	T	0.50277	0.75	5.71	5.71	0.89125	.	0.176747	0.40302	N	0.001131	T	0.62048	0.2396	M	0.67953	2.075	0.80722	D	1	P	0.50710	0.938	P	0.52267	0.694	T	0.64909	-0.6296	10	0.87932	D	0	.	19.8575	0.96767	0.0:1.0:0.0:0.0	.	846	P23471	PTPRZ_HUMAN	I	846	ENSP00000377047:T846I	ENSP00000377047:T846I	T	+	2	0	PTPRZ1	121438873	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.046000	0.57376	2.691000	0.91804	0.650000	0.86243	ACT		0.473	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		8	126	0	0	0	0.003080	0	8	126				
VAMP2	6844	broad.mit.edu	37	17	8065639	8065639	+	Silent	SNP	A	A	C			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr17:8065639A>C	ENST00000316509.6	-	2	146	c.51T>G	c.(49-51)ggT>ggG	p.G17G	VAMP2_ENST00000488857.1_Silent_p.G19G|RP11-599B13.6_ENST00000498285.1_Silent_p.G17G|VAMP2_ENST00000481878.1_Silent_p.G17G|VAMP2_ENST00000404970.3_5'UTR	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN	vesicle-associated membrane protein 2 (synaptobrevin 2)	17					cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|membrane organization (GO:0061024)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	calcium-dependent protein binding (GO:0048306)|protein self-association (GO:0043621)									Botulinum Toxin Type B(DB00042)	CAGGGGGACCACCCTCCCCAG	0.677																																						ENST00000316509.6																			0											c.(49-51)ggT>ggG		vesicle-associated membrane protein 2 (synaptobrevin 2)	Botulinum Toxin Type B(DB00042)						34.0	32.0	33.0					17																	8065639		2203	4300	6503	SO:0001819	synonymous_variant	6844				energy reserve metabolic process|glutamate secretion|post-Golgi vesicle-mediated transport|regulation of insulin secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to plasma membrane|synaptic vesicle membrane|synaptosome		g.chr17:8065639A>C		CCDS32561.1	17p13.1	2013-09-19			ENSG00000220205	ENSG00000220205		"""Vesicle-associated membrane proteins"""	12643	protein-coding gene	gene with protein product		185881		SYB2		1976629	Standard	NM_014232		Approved	VAMP-2	uc010cnt.1	P63027	OTTHUMG00000150254	ENST00000316509.6:c.51T>G	17.37:g.8065639A>C						VAMP2_ENST00000404970.3_5'UTR|RP11-599B13.6_ENST00000498285.1_Silent_p.G17G|VAMP2_ENST00000488857.1_Silent_p.G19G|VAMP2_ENST00000481878.1_Silent_p.G17G	p.G17G	NM_014232.2	NP_055047.2	P63027	VAMP2_HUMAN			2	146	-			17					P19065|Q9BUC2	Silent	SNP	ENST00000316509.6	37	c.51T>G	CCDS32561.1																																																																																				0.677	VAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317118.1			6	49	0	0	0	0.008291	0	6	49				
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000535720.1_RNA|RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		7	172						7	172	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr16:85682289_85682290insC	ENST00000253458.7	+	3	534_535	c.358_359insC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000405402.2_Frame_Shift_Ins_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.T47fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									CGTGCCCAGCACCCCCCCCGTG	0.688																																						ENST00000253458.7																			1	Deletion - Frameshift(1)	p.V123fs*2(1)	ovary(1)								c.(358-360)cccfs		Gse1 coiled-coil protein																																				SO:0001589	frameshift_variant	23199							g.chr16:85682289_85682290insC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.366dupC	16.37:g.85682297_85682297dupC	ENSP00000253458:p.Thr120fs					GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs	p.P120fs	NM_014615.2	NP_055430.1					3	534_535	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Ins	INS	ENST00000253458.7	37	c.358_359insC	CCDS10952.1																																																																																				0.688	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		8	81						8	81	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26684394	26684395	+	5'Flank	INS	-	-	G	rs202089331|rs17856014	byFrequency	TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr17:26684394_26684395insG	ENST00000292114.3	+	0	0				TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_5'Flank|POLDIP2_ENST00000540200.1_Splice_Site	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGAGCGGCTTTGCCACCGGGCC	0.762																																						ENST00000540200.1																			0											c.e1+1		polymerase (DNA-directed), delta interacting protein 2				2770,50		1380,10,20						0.4	0.1		dbSNP_130	4	6440,112		3203,34,39	no	frameshift	POLDIP2	NM_015584.3		4583,44,59	A1A1,A1R,RR		1.7094,1.773,1.7286				9210,162				SO:0001631	upstream_gene_variant	26073					mitochondrial nucleoid|nucleus		g.chr17:26684394_26684395insG	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684395_26684395dupG	Exception_encountered					POLDIP2_ENST00000003607.4_5'UTR		NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	78	-	all_lung(13;0.000354)|Lung NSC(42;0.00115)								Splice_Site	INS	ENST00000292114.3	37		CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		3	6						3	6	---	---	---	---
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58090681	58090682	+	lincRNA	DEL	TT	TT	-	rs201638373		TCGA-CE-A27D-01A-11D-A16O-08	TCGA-CE-A27D-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dad729-7b44-4b6d-b01f-cbcf57244b77	25cd0ba4-5250-45ac-96b5-e16b21a252f8	g.chr17:58090681_58090682delTT	ENST00000407042.3	-	0	609									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		CTCTGAATGATTTTTTTTTTTT	0.455																																						ENST00000407042.3																			0																																																			0							g.chr17:58090681_58090682delTT			17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58090691_58090692delTT														0	609	-									RNA	DEL	ENST00000407042.3	37																																																																																						0.455	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	lincRNA		NR_002924		3	5						3	5	---	---	---	---
