#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
COL4A3	1285	broad.mit.edu	37	2	228102726	228102726	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr2:228102726G>A	ENST00000396578.3	+	2	292	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	44	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGTGACGGGGCCAAAGGGGA	0.428																																						ENST00000396578.3																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(130-132)Gcc>Acc		collagen, type IV, alpha 3 (Goodpasture antigen)							178.0	171.0	173.0					2																	228102726		1851	4083	5934	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228102726G>A		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.130G>A	2.37:g.228102726G>A	ENSP00000379823:p.Ala44Thr					AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	p.A44T	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	2	292	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	44			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.130G>A	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.440075	0.25900	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.93659	-3.26	5.36	-10.7	0.00240	.	1.302570	0.05129	N	0.492311	D	0.82912	0.5140	N	0.25647	0.755	0.09310	N	1	B;B;B;B	0.26363	0.0;0.0;0.147;0.145	B;B;B;B	0.27076	0.001;0.001;0.062;0.076	T	0.70357	-0.4894	10	0.12766	T	0.61	.	5.1695	0.15103	0.282:0.1119:0.4965:0.1097	.	44;44;44;44	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	T	44	ENSP00000379823:A44T	ENSP00000323334:A44T	A	+	1	0	COL4A3	227810970	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.822000	0.04448	-2.405000	0.00575	-0.218000	0.12543	GCC		0.428	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091		5	291	0	0	0	0.021553	0	5	291				
MTERF3	51001	broad.mit.edu	37	8	97251725	97251725	+	Silent	SNP	C	C	T	rs377656018	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr8:97251725C>T	ENST00000287025.3	-	8	1346	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	MTERFD1_ENST00000523821.1_3'UTR|KB-1043D8.6_ENST00000520575.1_RNA|MTERFD1_ENST00000522822.1_Silent_p.T295T|MTERFD1_ENST00000524341.1_Silent_p.T172T	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		416					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAATCTAAAGCGTTTTTAAGA	0.284													C|||	3	0.000599042	0.0008	0.0	5008	,	,		16285	0.0		0.0	False		,,,				2504	0.002					ENST00000287025.3																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1246-1248)acG>acA		MTERF domain containing 1		C		2,4398	4.2+/-10.8	0,2,2198	34.0	36.0	35.0		1248	-1.4	1.0	8		35	0,8590		0,0,4295	no	coding-synonymous	MTERFD1	NM_015942.3		0,2,6493	TT,TC,CC		0.0,0.0455,0.0154		416/418	97251725	2,12988	2200	4295	6495	SO:0001819	synonymous_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97251725C>T																												ENST00000287025.3:c.1248G>A	8.37:g.97251725C>T						MTERFD1_ENST00000522822.1_Silent_p.T295T|MTERFD1_ENST00000523821.1_3'UTR|MTERFD1_ENST00000524341.1_Silent_p.T172T	p.T416T	NM_015942.3	NP_057026.3	Q96E29	MTER1_HUMAN			8	1346	-	Breast(36;5.16e-05)		416					B3KMG6|G3V130|Q9Y301	Silent	SNP	ENST00000287025.3	37	c.1248G>A	CCDS6270.1																																																																																				0.284	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			12	19	0	0	0	0.080935	0	12	19				
TFPI2	7980	broad.mit.edu	37	7	93519448	93519448	+	Splice_Site	SNP	C	C	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr7:93519448C>A	ENST00000222543.5	-	2	584		c.e2+1		GNGT1_ENST00000455502.1_Intron|AC002076.10_ENST00000435257.1_RNA|TFPI2_ENST00000545378.1_Splice_Site	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2						blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			AGGGCACTTACTTTCTATCCT	0.602																																						ENST00000222543.5																			0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.e2+1		tissue factor pathway inhibitor 2							26.0	28.0	27.0					7																	93519448		2202	4299	6501	SO:0001630	splice_region_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93519448C>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.271+1G>T	7.37:g.93519448C>A						TFPI2_ENST00000545378.1_Splice_Site|GNGT1_ENST00000455502.1_Intron		NM_006528.3	NP_006519.1	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		2	584	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)							Q66ME8|Q8NAK6|Q9UC86	Splice_Site	SNP	ENST00000222543.5	37		CCDS5632.1	.	.	.	.	.	.	.	.	.	.	C	11.46	1.646382	0.29246	.	.	ENSG00000105825	ENST00000222543;ENST00000545378;ENST00000451238	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4832	0.90819	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TFPI2	93357384	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	4.393000	0.59665	2.538000	0.85594	0.313000	0.20887	.		0.602	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	NM_006528	Intron	23	32	1	0	1.10513e-12	0.069288	1.44281e-12	23	32				
MDN1	23195	broad.mit.edu	37	6	90365677	90365677	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:90365677C>T	ENST00000369393.3	-	92	15411	c.15296G>A	c.(15295-15297)aGg>aAg	p.R5099K	MDN1_ENST00000428876.1_Missense_Mutation_p.R5099K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5099					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCAGGTTTCCTCTTAAAACT	0.468																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(15295-15297)aGg>aAg		MDN1, midasin homolog (yeast)							66.0	53.0	57.0					6																	90365677		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90365677C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15296G>A	6.37:g.90365677C>T	ENSP00000358400:p.Arg5099Lys					MDN1_ENST00000428876.1_Missense_Mutation_p.R5099K	p.R5099K			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	92	15411	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5099					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15296G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733743	0.69189	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03181	4.02;4.02	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	M	0.65498	2.005	0.51767	D	0.999936	D	0.69078	0.997	D	0.72625	0.978	T	0.41998	-0.9477	10	0.12430	T	0.62	.	19.5538	0.95333	0.0:1.0:0.0:0.0	.	5099	Q9NU22	MDN1_HUMAN	K	5099	ENSP00000358400:R5099K;ENSP00000413970:R5099K	ENSP00000358400:R5099K	R	-	2	0	MDN1	90422398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.206000	0.77891	2.688000	0.91661	0.655000	0.94253	AGG		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			8	66	0	0	0	0.038147	0	8	66				
TRIML1	339976	broad.mit.edu	37	4	189068316	189068316	+	Silent	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:189068316C>T	ENST00000332517.3	+	6	1337	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	399	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.H399Q(3)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGGTCAGCACGTCAGAGAGC	0.488																																					Melanoma(31;213 1036 16579 23968 32372)	ENST00000332517.3																			3	Substitution - Missense(3)	p.H399Q(3)	lung(3)	NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60						c.(1195-1197)caC>caT		tripartite motif family-like 1							153.0	137.0	142.0					4																	189068316		2203	4300	6503	SO:0001819	synonymous_variant	339976				multicellular organismal development		ligase activity|zinc ion binding	g.chr4:189068316C>T	AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1197C>T	4.37:g.189068316C>T						TRIML1_ENST00000507581.1_3'UTR	p.H399H	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)	6	1337	+		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)	399			B30.2/SPRY.		Q96BE5	Silent	SNP	ENST00000332517.3	37	c.1197C>T	CCDS3851.1																																																																																				0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359813.1	NM_178556		81	109	0	0	0	0.139131	0	81	109				
LAMA3	3909	broad.mit.edu	37	18	21394416	21394416	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr18:21394416G>A	ENST00000313654.9	+	15	2079	c.1838G>A	c.(1837-1839)tGc>tAc	p.C613Y	LAMA3_ENST00000399516.3_Missense_Mutation_p.C613Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	613	Domain V.|Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGTAGCCGCTGCAAACTGTTA	0.343																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1837-1839)tGc>tAc		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						150.0	140.0	143.0					18																	21394416		1830	4094	5924	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21394416G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1838G>A	18.37:g.21394416G>A	ENSP00000324532:p.Cys613Tyr					LAMA3_ENST00000399516.3_Missense_Mutation_p.C613Y	p.C613Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			15	2079	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		613			Domain V.|Laminin EGF-like 6.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1838G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557551	0.65425	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.65916	-0.18;-0.18	5.64	5.64	0.86602	EGF-like, laminin (3);	.	.	.	.	D	0.88276	0.6393	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.92503	0.6010	9	0.87932	D	0	.	19.7023	0.96060	0.0:0.0:1.0:0.0	.	613;613	Q6VU67;Q16787	.;LAMA3_HUMAN	Y	613;613;611	ENSP00000324532:C613Y;ENSP00000382432:C613Y	ENSP00000324532:C613Y	C	+	2	0	LAMA3	19648414	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	9.149000	0.94659	2.644000	0.89710	0.650000	0.86243	TGC		0.343	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		4	172	0	0	0	0.021553	0	4	172				
SLC29A1	2030	broad.mit.edu	37	6	44197517	44197517	+	Silent	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:44197517C>T	ENST00000393841.1	+	5	794	c.303C>T	c.(301-303)ttC>ttT	p.F101F	SLC29A1_ENST00000371724.1_Silent_p.F101F|SLC29A1_ENST00000371713.1_Silent_p.F101F|SLC29A1_ENST00000371740.5_Silent_p.F101F|SLC29A1_ENST00000371708.1_Silent_p.F101F|SLC29A1_ENST00000371755.3_Silent_p.F101F|SLC29A1_ENST00000427851.2_Silent_p.F101F|SLC29A1_ENST00000393844.1_Silent_p.F101F|SLC29A1_ENST00000313248.7_Silent_p.F180F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371731.1_Silent_p.F101F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	101					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	TCAACTCCTTCCTGCATCAGA	0.592																																						ENST00000393841.1																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17						c.(301-303)ttC>ttT		solute carrier family 29 (equilibrative nucleoside transporter), member 1	Troglitazone(DB00197)						122.0	112.0	116.0					6																	44197517		2203	4300	6503	SO:0001819	synonymous_variant	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44197517C>T	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.303C>T	6.37:g.44197517C>T						SLC29A1_ENST00000371731.1_Silent_p.F101F|SLC29A1_ENST00000393844.1_Silent_p.F101F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.F101F|SLC29A1_ENST00000313248.7_Silent_p.F180F|SLC29A1_ENST00000371755.3_Silent_p.F101F|SLC29A1_ENST00000427851.2_Silent_p.F101F|SLC29A1_ENST00000371724.1_Silent_p.F101F|SLC29A1_ENST00000371713.1_Silent_p.F101F|SLC29A1_ENST00000371740.5_Silent_p.F101F	p.F101F	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	794	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		101					B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	ENST00000393841.1	37	c.303C>T	CCDS4908.1																																																																																				0.592	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			4	90	0	0	0	0.150653	0	4	90				
TRAV36DV7	28646	broad.mit.edu	37	14	22695051	22695051	+	RNA	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr14:22695051G>A	ENST00000390463.3	+	0	258									T cell receptor alpha variable 36/delta variable 7																		AAGTCAGGAAGACTAAGTAGC	0.438																																						ENST00000390463.3																			0																				20.0	22.0	22.0					14																	22695051		1908	4142	6050			0							g.chr14:22695051G>A	AE000660		14q11.2	2012-02-07			ENSG00000211815	ENSG00000211815		"""T cell receptors / TRA locus"""	12135	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TRAV36/DV7			OTTHUMG00000170666		14.37:g.22695051G>A														0	258	+									RNA	SNP	ENST00000390463.3	37																																																																																						0.438	TRAV36DV7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409914.1	NG_001332		21	36	0	0	0	0.049695	0	21	36				
SVIL	6840	broad.mit.edu	37	10	29754571	29754571	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr10:29754571C>A	ENST00000355867.4	-	34	6838	c.6086G>T	c.(6085-6087)aGt>aTt	p.S2029I	SVIL_ENST00000375400.3_Missense_Mutation_p.S1603I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.S2029I|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S943I	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2029					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCATGGAACTGACCACAGA	0.587																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6085-6087)aGt>aTt		supervillin							43.0	46.0	45.0					10																	29754571		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29754571C>A	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6086G>T	10.37:g.29754571C>A	ENSP00000348128:p.Ser2029Ile					SVIL_ENST00000535393.1_Missense_Mutation_p.S943I|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.S2029I|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1603I	p.S2029I			O95425	SVIL_HUMAN			36	6535	-		Breast(68;0.103)	2029					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6086G>T	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895895	0.52121	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.43688	1.88;1.88;1.88;0.94	4.72	3.69	0.42338	.	0.039425	0.85682	D	0.000000	T	0.40546	0.1121	L	0.58810	1.83	0.80722	D	1	B;B;B	0.33345	0.02;0.409;0.128	B;B;B	0.40982	0.169;0.345;0.083	T	0.35724	-0.9777	10	0.56958	D	0.05	-12.9702	4.5827	0.12266	0.0:0.2005:0.0:0.7995	.	943;1603;2029	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	I	1603;2029;2029;943	ENSP00000364549:S1603I;ENSP00000364547:S2029I;ENSP00000348128:S2029I;ENSP00000445472:S943I	ENSP00000348128:S2029I	S	-	2	0	SVIL	29794577	1.000000	0.71417	0.712000	0.30502	0.475000	0.33008	2.599000	0.46231	1.011000	0.39340	0.650000	0.86243	AGT		0.587	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			20	61	1	0	4.35082e-09	0.055883	5.52671e-09	20	61				
PCDHGA2	56113	broad.mit.edu	37	5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	248	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(742-744)cGc>cAc									77.0	78.0	77.0					5																	140719281		2203	4300	6503	SO:0001583	missense	0							g.chr5:140719281G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.743G>A	5.37:g.140719281G>A	ENSP00000378077:p.Arg248His					PCDHGA1_ENST00000517417.1_Intron	p.R248H	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	743	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.743G>A	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	5.530	0.282755	0.10458	.	.	ENSG00000081853	ENST00000394576	T	0.01767	4.65	5.26	0.19	0.15125	Cadherin (4);Cadherin-like (1);	1.220540	0.06134	N	0.671214	T	0.02688	0.0081	L	0.58925	1.835	0.09310	N	1	B;B	0.24426	0.059;0.103	B;B	0.26969	0.021;0.075	T	0.46386	-0.9195	10	0.40728	T	0.16	.	5.2025	0.15273	0.4645:0.2358:0.2997:0.0	.	248;248	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	H	248	ENSP00000378077:R248H	ENSP00000378077:R248H	R	+	2	0	PCDHGA2	140699465	0.000000	0.05858	0.992000	0.48379	0.024000	0.10985	-1.264000	0.02847	0.325000	0.23359	-0.140000	0.14226	CGC		0.557	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		4	146	0	0	0	0.150653	0	4	146				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977359	29977359	+	RNA	SNP	G	G	A	rs367861986|rs3831361|rs370297731	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:29977359G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		ATTTGTTCATGCCTTCCCTTT	0.453																																						ENST00000376797.3																			0																																																			0							g.chr6:29977359G>A	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977359G>A						ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.453	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	64	0	0	0	0.029380	0	5	64				
EHMT2	10919	broad.mit.edu	37	6	31847931	31847931	+	Missense_Mutation	SNP	C	C	A	rs547088463		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31847931C>A	ENST00000375537.4	-	28	3569	c.3563G>T	c.(3562-3564)cGt>cTt	p.R1188L	SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1154L|SLC44A4_ENST00000544672.1_5'Flank|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1211L|EHMT2_ENST00000395728.3_Missense_Mutation_p.R1245L|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000375562.4_5'Flank	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1188					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGGGCCAGACGGCTCTGCTC	0.612																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(3733-3735)cGt>cTt		euchromatic histone-lysine N-methyltransferase 2							55.0	50.0	52.0					6																	31847931		1510	2709	4219	SO:0001583	missense	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31847931C>A	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3563G>T	6.37:g.31847931C>A	ENSP00000364687:p.Arg1188Leu					EHMT2_ENST00000375528.4_Missense_Mutation_p.R1211L|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1154L|EHMT2_ENST00000375537.4_Missense_Mutation_p.R1188L	p.R1245L			Q96KQ7	EHMT2_HUMAN			27	3733	-			1188					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	c.3734G>T	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998547	0.93227	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.70631	-0.5;-0.42;-0.36;-0.49	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.57710	0.2072	L	0.44542	1.39	0.80722	D	1	P;P;D;D	0.58620	0.913;0.948;0.983;0.97	B;P;B;P	0.44447	0.166;0.449;0.314;0.45	T	0.64571	-0.6376	10	0.52906	T	0.07	.	16.5388	0.84380	0.0:1.0:0.0:0.0	.	1211;1154;1188;1009	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1245;1211;1154;1188;1009	ENSP00000379078:R1245L;ENSP00000364678:R1211L;ENSP00000364680:R1154L;ENSP00000364687:R1188L	ENSP00000364678:R1211L	R	-	2	0	EHMT2	31955910	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.623000	0.54224	2.278000	0.76064	0.561000	0.74099	CGT		0.612	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		3	45	1	0	0.004672	0.115264	0.00577853	3	45				
NDUFA7	4701	broad.mit.edu	37	19	8381518	8381518	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:8381518G>A	ENST00000301457.2	-	3	150	c.113C>T	c.(112-114)cCt>cTt	p.P38L	NDUFA7_ENST00000598884.1_Missense_Mutation_p.P38L	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	38					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						GAGCTTGGGAGGAGGCTGAGT	0.552																																						ENST00000301457.2																			0				NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5						c.(112-114)cCt>cTt		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	NADH(DB00157)						58.0	67.0	64.0					19																	8381518		1985	4161	6146	SO:0001583	missense	4701				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr19:8381518G>A	AF050637	CCDS42492.1	19p13.2	2013-05-14	2002-08-29		ENSG00000267855	ENSG00000267855		"""Mitochondrial respiratory chain complex / Complex I"""	7691	protein-coding gene	gene with protein product	"""complex I B14.5a subunit"""	602139	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7 (14.5kD, B14.5a)"""			9763676	Standard	NM_005001		Approved	B14.5a	uc002mjm.2	O95182	OTTHUMG00000182459	ENST00000301457.2:c.113C>T	19.37:g.8381518G>A	ENSP00000301457:p.Pro38Leu					NDUFA7_ENST00000598884.1_Missense_Mutation_p.P38L	p.P38L	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN			3	150	-			38						Missense_Mutation	SNP	ENST00000301457.2	37	c.113C>T	CCDS42492.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723911	0.68959	.	.	ENSG00000167774	ENST00000301457	T	0.43688	0.94	5.74	4.68	0.58851	.	0.061565	0.64402	D	0.000003	T	0.53465	0.1798	L	0.53249	1.67	0.80722	D	1	P	0.47604	0.898	P	0.55055	0.767	T	0.54689	-0.8256	10	0.51188	T	0.08	-14.9915	14.6277	0.68635	0.0:0.0:0.8532:0.1468	.	38	O95182	NDUA7_HUMAN	L	38	ENSP00000301457:P38L	ENSP00000301457:P38L	P	-	2	0	NDUFA7	8287518	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.358000	0.97109	1.389000	0.46526	0.561000	0.74099	CCT		0.552	NDUFA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461373.1	NM_005001		3	89	0	0	0	0.115264	0	3	89				
ACSM2B	348158	broad.mit.edu	37	16	20565148	20565148	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr16:20565148C>T	ENST00000329697.6	-	5	859	c.691G>A	c.(691-693)Gca>Aca	p.A231T	ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A231T|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A231T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A152T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	231					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAATGTTCTGCCATCTTGGGA	0.522																																						ENST00000329697.6																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(691-693)Gca>Aca		acyl-CoA synthetase medium-chain family member 2B							93.0	86.0	89.0					16																	20565148		2200	4281	6481	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20565148C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.691G>A	16.37:g.20565148C>T	ENSP00000327453:p.Ala231Thr					ACSM2B_ENST00000565232.1_Missense_Mutation_p.A231T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A152T|ACSM2B_ENST00000567001.1_Missense_Mutation_p.A231T	p.A231T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN			5	859	-			231					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.691G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	4.572	0.106202	0.08780	.	.	ENSG00000066813	ENST00000329697	T	0.52983	0.64	3.23	2.25	0.28309	AMP-dependent synthetase/ligase (1);	0.297819	0.24063	N	0.041894	T	0.34658	0.0905	L	0.39514	1.22	0.80722	D	1	P;P	0.35628	0.513;0.513	B;B	0.37731	0.257;0.257	T	0.07328	-1.0778	10	0.37606	T	0.19	-1.6256	4.7952	0.13269	0.0:0.649:0.2248:0.1261	.	231;231	A8K051;Q68CK6	.;ACS2B_HUMAN	T	231	ENSP00000327453:A231T	ENSP00000327453:A231T	A	-	1	0	ACSM2B	20472649	0.996000	0.38824	0.910000	0.35882	0.353000	0.29299	1.298000	0.33412	0.668000	0.31126	0.514000	0.50259	GCA		0.522	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		6	133	0	0	0	0.021553	0	6	133				
VILL	50853	broad.mit.edu	37	3	38039042	38039042	+	Silent	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr3:38039042G>A	ENST00000283713.6	+	7	896	c.630G>A	c.(628-630)gtG>gtA	p.V210V	VILL_ENST00000383759.2_Silent_p.V210V|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	210					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTGGTGTGGTGGATGATGAGG	0.642																																						ENST00000283713.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28						c.(628-630)gtG>gtA		villin-like							107.0	95.0	99.0					3																	38039042		2203	4300	6503	SO:0001819	synonymous_variant	50853				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	g.chr3:38039042G>A		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.630G>A	3.37:g.38039042G>A						VILL_ENST00000383759.2_Silent_p.V210V|VILL_ENST00000465644.1_Intron	p.V210V			O15195	VILL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	7	896	+			210					A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	ENST00000283713.6	37	c.630G>A	CCDS2670.2																																																																																				0.642	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873		3	65	0	0	0	0.150653	0	3	65				
ABCA10	10349	broad.mit.edu	37	17	67149674	67149674	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr17:67149674G>A	ENST00000269081.4	-	34	4888	c.3979C>T	c.(3979-3981)Ctt>Ttt	p.L1327F	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1327	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGGAGCTTAAGAGCTTCCACC	0.423																																						ENST00000269081.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(3979-3981)Ctt>Ttt		ATP-binding cassette, sub-family A (ABC1), member 10							77.0	83.0	81.0					17																	67149674		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67149674G>A	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3979C>T	17.37:g.67149674G>A	ENSP00000269081:p.Leu1327Phe					ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	p.L1327F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN			34	4888	-	Breast(10;6.95e-12)		1327			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3979C>T	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113253	0.37339	.	.	ENSG00000154263	ENST00000269081	D	0.94897	-3.55	3.58	1.46	0.22682	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.274722	0.19030	N	0.124561	D	0.92116	0.7501	L	0.28608	0.87	0.80722	D	1	P;P	0.46784	0.884;0.584	P;P	0.55011	0.766;0.539	D	0.87518	0.2444	10	0.40728	T	0.16	.	6.5759	0.22567	0.3345:0.0:0.6655:0.0	.	319;1327	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	F	1327	ENSP00000269081:L1327F	ENSP00000269081:L1327F	L	-	1	0	ABCA10	64661269	0.046000	0.20272	0.001000	0.08648	0.031000	0.12232	0.252000	0.18278	0.160000	0.19432	0.563000	0.77884	CTT		0.423	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		4	202	0	0	0	0.150653	0	4	202				
ABCC10	89845	broad.mit.edu	37	6	43400167	43400167	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:43400167C>A	ENST00000372530.4	+	3	664	c.449C>A	c.(448-450)aCc>aAc	p.T150N	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.T107N	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	150					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CTAGTGCTGACCGTGTTGTGG	0.647																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(319-321)aCc>aAc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							63.0	61.0	62.0					6																	43400167		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400167C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.449C>A	6.37:g.43400167C>A	ENSP00000361608:p.Thr150Asn					ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.T150N	p.T107N	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	679	+	all_lung(25;0.00536)		150					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.320C>A	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034684	0.54896	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.51325	0.71;0.71	5.94	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	N	0.24115	0.695	0.42806	D	0.99394	B;B	0.18863	0.031;0.018	B;B	0.19666	0.026;0.012	T	0.05632	-1.0873	10	0.21014	T	0.42	-45.0256	16.4819	0.84160	0.1322:0.8678:0.0:0.0	.	107;150	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	N	150;107	ENSP00000361608:T150N;ENSP00000244533:T107N	ENSP00000244533:T107N	T	+	2	0	ABCC10	43508145	0.996000	0.38824	0.604000	0.28916	0.725000	0.41563	3.409000	0.52657	1.503000	0.48686	0.561000	0.74099	ACC		0.647	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		5	138	1	0	0.014758	0.014758	0.0177853	5	138				
TAS2R19	259294	broad.mit.edu	37	12	11175081	11175081	+	Silent	SNP	T	T	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(88-90)gtA>gtT		taste receptor, type 2, member 19							85.0	80.0	82.0					12																	11175081		2203	4300	6503	SO:0001819	synonymous_variant	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11175081T>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.90A>T	12.37:g.11175081T>A						PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	p.V30V	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	138	-			30					Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	c.90A>T	CCDS8640.1																																																																																				0.408	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		4	91	0	0	0	0.150653	0	4	91				
DNAH8	1769	broad.mit.edu	37	6	38957817	38957817	+	Silent	SNP	G	G	A	rs143472136	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:38957817G>A	ENST00000359357.3	+	86	12686	c.12432G>A	c.(12430-12432)ccG>ccA	p.P4144P	DNAH8_ENST00000441566.1_Silent_p.P4108P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4144					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTTGAACCGTCATTCTGCT	0.368																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(12430-12432)ccG>ccA		dynein, axonemal, heavy chain 8		G		2,4404	4.2+/-10.8	0,2,2201	155.0	146.0	149.0		13083	-5.6	0.4	6	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DNAH8	NM_001206927.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		4361/4708	38957817	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38957817G>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12432G>A	6.37:g.38957817G>A						DNAH8_ENST00000441566.1_Silent_p.P4108P	p.P4144P							86	12686	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.12432G>A																																																																																					0.368	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		5	195	0	0	0	0.021553	0	5	195				
GABRR1	2569	broad.mit.edu	37	6	89890209	89890209	+	Splice_Site	SNP	T	T	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:89890209T>A	ENST00000454853.2	-	9	1060		c.e9-2		GABRR1_ENST00000435811.1_Splice_Site|GABRR1_ENST00000369451.3_Splice_Site	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TTGTGATACCTGCAAACACAA	0.512																																						ENST00000435811.1																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35						c.e8-2		gamma-aminobutyric acid (GABA) A receptor, rho 1	Picrotoxin(DB00466)						117.0	95.0	103.0					6																	89890209		2203	4300	6503	SO:0001630	splice_region_variant	2569				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89890209T>A		CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.950-2A>T	6.37:g.89890209T>A						GABRR1_ENST00000369451.3_Splice_Site|GABRR1_ENST00000454853.2_Splice_Site		NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00917)	8	1353	-		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)						A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Splice_Site	SNP	ENST00000454853.2	37		CCDS5019.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013480	0.75161	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1818	0.72965	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRR1	89946928	1.000000	0.71417	0.991000	0.47740	0.764000	0.43329	8.040000	0.89188	1.972000	0.57404	0.455000	0.32223	.		0.512	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2		Intron	3	78	0	0	0	0.115264	0	3	78				
TRRAP	8295	broad.mit.edu	37	7	98522768	98522768	+	Missense_Mutation	SNP	G	G	A	rs557385921		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr7:98522768G>A	ENST00000359863.4	+	22	3066	c.2857G>A	c.(2857-2859)Gcc>Acc	p.A953T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A952T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A953T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	953					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTGAAAAGCGCCAACACTGA	0.493																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(2857-2859)Gcc>Acc		transformation/transcription domain-associated protein							142.0	118.0	127.0					7																	98522768		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98522768G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2857G>A	7.37:g.98522768G>A	ENSP00000352925:p.Ala953Thr					TRRAP_ENST00000355540.3_Missense_Mutation_p.A953T|TRRAP_ENST00000446306.3_Missense_Mutation_p.A952T	p.A953T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		22	3066	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		953					A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.2857G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338771	0.81911	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03065	4.06;4.06	6.17	6.17	0.99709	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.02083	0.0065	N	0.08118	0	0.80722	D	1	P;P;P	0.48998	0.831;0.804;0.918	B;B;B	0.29785	0.107;0.06;0.079	T	0.65421	-0.6172	10	0.11182	T	0.66	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	953;667;953	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	953;953;951	ENSP00000352925:A953T;ENSP00000347733:A953T	ENSP00000347733:A953T	A	+	1	0	TRRAP	98360704	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	9.534000	0.98061	2.941000	0.99782	0.655000	0.94253	GCC		0.493	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		4	124	0	0	0	0.150653	0	4	124				
HERC2P3	283755	broad.mit.edu	37	15	20644645	20644645	+	RNA	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr15:20644645G>A	ENST00000428453.1	-	0	3187							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACCTCTGAGTGATGGCACTAC	0.632																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35																																														0							g.chr15:20644645G>A	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20644645G>A														0	3187	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.632	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		4	35	0	0	0	0.150653	0	4	35				
MAGI3	260425	broad.mit.edu	37	1	114201721	114201721	+	Silent	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr1:114201721C>T	ENST00000307546.9	+	16	2724	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	MAGI3_ENST00000369615.1_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	908	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAATTGGCCGAGTCATAG	0.378																																						ENST00000369615.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2647-2649)ggC>ggT		membrane associated guanylate kinase, WW and PDZ domain containing 3							94.0	98.0	97.0					1																	114201721		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114201721C>T	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2649C>T	1.37:g.114201721C>T						MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369611.4_Silent_p.G883G	p.G883G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2711	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	908			Interaction with LPAR2 and GRIN2B.|PDZ 5.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2649C>T	CCDS44196.1																																																																																				0.378	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900		4	145	0	0	0	0.150653	0	4	145				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr20:29628283G>C	ENST00000278882.3	+	6	665	c.285G>C	c.(283-285)ggG>ggC	p.G95G	FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95								p.G95G(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378																																						ENST00000278882.3																			4	Substitution - coding silent(4)	p.G95G(4)	urinary_tract(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)ggG>ggC																																						SO:0001819	synonymous_variant	0							g.chr20:29628283G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.285G>C	20.37:g.29628283G>C						FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G	p.G95G							6	665	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.285G>C																																																																																					0.378	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	111	0	0	0	0.021553	0	5	111				
RSF1	51773	broad.mit.edu	37	11	77404636	77404636	+	Silent	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr11:77404636G>A	ENST00000308488.6	-	8	3038	c.2736C>T	c.(2734-2736)tgC>tgT	p.C912C	RSF1_ENST00000480887.1_Silent_p.C660C|Y_RNA_ENST00000384089.1_RNA|RSF1_ENST00000360355.2_Silent_p.C881C			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	912					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			ATCCACTATCGCAAGAGTCAC	0.453																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2734-2736)tgC>tgT		remodeling and spacing factor 1							141.0	119.0	127.0					11																	77404636		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77404636G>A	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2736C>T	11.37:g.77404636G>A						RSF1_ENST00000480887.1_Silent_p.C660C|RSF1_ENST00000360355.2_Silent_p.C881C	p.C912C			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		8	3038	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		912					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.2736C>T	CCDS8253.1																																																																																				0.453	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		3	16	0	0	0	0.115264	0	3	16				
IFNL3	282617	broad.mit.edu	37	19	39734513	39734513	+	Missense_Mutation	SNP	C	C	T	rs146276429		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:39734513C>T	ENST00000413851.2	-	4	481	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	148					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											GAGGCGGCCCCGGGTCCTGGG	0.692																																						ENST00000413851.2																			0											c.(442-444)cGg>cAg		interferon, lambda 3		T	GLN/ARG	0,4392		0,0,2196	21.0	28.0	26.0		443	-7.9	0.0	19	dbSNP_134	26	1,8539		0,1,4269	no	missense	IL28B	NM_172139.2	43	0,1,6465	TT,TC,CC		0.0117,0.0,0.0077	possibly-damaging	148/197	39734513	1,12931	2196	4270	6466	SO:0001583	missense	282617							g.chr19:39734513C>T	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.443G>A	19.37:g.39734513C>T	ENSP00000409000:p.Arg148Gln						p.R148Q	NM_172139.2	NP_742151.2					4	481	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.443G>A	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	c	4.345	0.063564	0.08388	0.0	1.17E-4	ENSG00000197110	ENST00000413851	T	0.31247	1.5	3.95	-7.91	0.01165	.	1.913640	0.02255	N	0.066998	T	0.13586	0.0329	L	0.28504	0.86	0.09310	N	1	P	0.35226	0.491	B	0.19391	0.025	T	0.14587	-1.0467	10	0.20519	T	0.43	-0.2085	2.5438	0.04732	0.1054:0.2174:0.2089:0.4682	.	148	Q8IZI9	IL28B_HUMAN	Q	148	ENSP00000409000:R148Q	ENSP00000409000:R148Q	R	-	2	0	IL28B	44426353	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-2.602000	0.00891	-2.265000	0.00688	-2.559000	0.00174	CGG		0.692	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		8	58	0	0	0	0.160694	0	8	58				
POLD1	5424	broad.mit.edu	37	19	50910352	50910352	+	Missense_Mutation	SNP	C	C	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:50910352C>A	ENST00000440232.2	+	13	1660	c.1607C>A	c.(1606-1608)gCg>gAg	p.A536E	POLD1_ENST00000599857.1_Missense_Mutation_p.A536E|POLD1_ENST00000595904.1_Missense_Mutation_p.A536E	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	536					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTGGAGATGGCGAGGGTCACT	0.652								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1606-1608)gCg>gAg	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							72.0	67.0	69.0					19																	50910352		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50910352C>A		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1607C>A	19.37:g.50910352C>A	ENSP00000406046:p.Ala536Glu					POLD1_ENST00000599857.1_Missense_Mutation_p.A536E|POLD1_ENST00000595904.1_Missense_Mutation_p.A536E	p.A536E	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	13	1660	+		all_neural(266;0.0571)	536					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.1607C>A	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.864502	0.71949	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.22945	1.93	3.96	2.92	0.33932	Ribonuclease H-like (1);	0.061486	0.64402	D	0.000006	T	0.65354	0.2683	H	0.99011	4.4	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.988	T	0.76605	-0.2898	10	0.87932	D	0	-32.6322	11.0962	0.48145	0.0:0.9034:0.0:0.0966	.	536;536	E7EVW0;P28340	.;DPOD1_HUMAN	E	536;537	ENSP00000406046:A536E	ENSP00000366129:A537E	A	+	2	0	POLD1	55602164	1.000000	0.71417	0.842000	0.33263	0.714000	0.41099	5.298000	0.65710	0.974000	0.38366	0.313000	0.20887	GCG		0.652	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			3	84	1	0	0.115264	0.115264	0.132132	3	84				
PRRC2A	7916	broad.mit.edu	37	6	31595798	31595798	+	Missense_Mutation	SNP	C	C	G			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr6:31595798C>G	ENST00000376033.2	+	12	1781	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S516C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	516	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTGCCCCTTCTACCCCAGCT	0.602																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(1546-1548)tCt>tGt		proline-rich coiled-coil 2A							131.0	127.0	128.0					6																	31595798		1511	2709	4220	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31595798C>G	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1547C>G	6.37:g.31595798C>G	ENSP00000365201:p.Ser516Cys					PRRC2A_ENST00000376007.4_Missense_Mutation_p.S516C	p.S516C	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			12	1781	+			516			2 X type B repeats.|4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.1547C>G	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287336	0.23478	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.08370	3.1;3.1	4.38	4.38	0.52667	.	0.301266	0.24063	N	0.041882	T	0.02047	0.0064	N	0.08118	0	0.29312	N	0.867938	B	0.25955	0.138	B	0.24541	0.054	T	0.40040	-0.9584	10	0.87932	D	0	0.0336	14.3081	0.66397	0.0:1.0:0.0:0.0	.	516	P48634	PRC2A_HUMAN	C	516;505;516;516	ENSP00000365175:S516C;ENSP00000365201:S516C	ENSP00000365175:S516C	S	+	2	0	PRRC2A	31703777	0.584000	0.26766	0.996000	0.52242	0.913000	0.54294	2.706000	0.47135	2.453000	0.82957	0.561000	0.74099	TCT		0.602	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		82	186	0	0	0	0.139131	0	82	186				
PCDHGA3	56112	broad.mit.edu	37	5	140724389	140724389	+	Silent	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr5:140724389G>A	ENST00000253812.6	+	1	789	c.789G>A	c.(787-789)acG>acA	p.T263T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCTCACGGTGAATGCCA	0.478																																						ENST00000253812.6																			0				breast(1)	1						c.(787-789)acG>acA									58.0	60.0	60.0					5																	140724389		2088	4243	6331	SO:0001819	synonymous_variant	0							g.chr5:140724389G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.789G>A	5.37:g.140724389G>A						PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	p.T263T	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	789	+								Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.789G>A	CCDS47290.1																																																																																				0.478	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		35	52	0	0	0	0.064281	0	35	52				
ZNF788	388507	broad.mit.edu	37	19	12224395	12224395	+	3'UTR	SNP	T	T	A	rs556276294	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:12224395T>A	ENST00000339302.4	+	0	2670				ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_Missense_Mutation_p.F214Y|ZNF20_ENST00000600335.1_Intron			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GGGAAAGCCTTCACATCTGCC	0.423													T|||	4	0.000798722	0.0	0.0	5008	,	,		20466	0.004		0.0	False		,,,				2504	0.0				Melanoma(116;440 1644 18510 25456 49479)	ENST00000397759.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						c.(640-642)tTc>tAc		zinc finger family member 788																																				SO:0001624	3_prime_UTR_variant	388507							g.chr19:12224395T>A	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.*185T>A	19.37:g.12224395T>A						ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000339302.4_3'UTR|ZNF788_ENST00000430298.2_3'UTR	p.214_214insY							3	641	+								Q6ZRE4	Missense_Mutation	SNP	ENST00000339302.4	37	c.641T>A		.	.	.	.	.	.	.	.	.	.	T	16.54	3.150770	0.57151	.	.	ENSG00000188474	ENST00000397759	T	0.40476	1.03	0.851	0.851	0.18989	.	.	.	.	.	T	0.43942	0.1270	.	.	.	.	.	.	.	.	.	.	.	.	T	0.56007	-0.8050	5	0.72032	D	0.01	.	7.2054	0.25905	0.0:0.0:0.0:1.0	.	.	.	.	Y	214	ENSP00000380866:F214Y	ENSP00000380866:F214Y	F	+	2	0	AC022415.1	12085395	0.939000	0.31865	0.159000	0.22649	0.540000	0.34992	2.781000	0.47750	0.609000	0.30018	0.254000	0.18369	TTC		0.423	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_930581		6	4	0	0	0	0.021553	0	6	4				
DVL2	1856	broad.mit.edu	37	17	7137472	7137472	+	Missense_Mutation	SNP	C	C	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr17:7137472C>T	ENST00000005340.5	-	1	392	c.110G>A	c.(109-111)cGc>cAc	p.R37H	PHF23_ENST00000570753.1_5'Flank|DVL2_ENST00000575458.1_Missense_Mutation_p.R37H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	37	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GAGGGTGATGCGCTCGGCGGG	0.602																																						ENST00000005340.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						c.(109-111)cGc>cAc		dishevelled segment polarity protein 2							103.0	110.0	108.0					17																	7137472		2203	4300	6503	SO:0001583	missense	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7137472C>T	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.110G>A	17.37:g.7137472C>T	ENSP00000005340:p.Arg37His					DVL2_ENST00000575458.1_Missense_Mutation_p.R37H	p.R37H	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN			1	392	-			37			DIX.		D3DTN3|Q53XM0	Missense_Mutation	SNP	ENST00000005340.5	37	c.110G>A	CCDS11091.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.821401	0.90873	.	.	ENSG00000004975	ENST00000005340	T	0.43294	0.95	4.51	4.51	0.55191	DIX (3);	0.287347	0.32640	N	0.005840	T	0.51652	0.1687	L	0.53249	1.67	0.36170	D	0.848736	D;D;D	0.69078	0.997;0.996;0.997	P;P;P	0.60789	0.879;0.703;0.879	T	0.61787	-0.6991	10	0.56958	D	0.05	-13.7627	8.5504	0.33449	0.0:0.8922:0.0:0.1078	.	37;37;37	B4DLQ0;B4E2D6;O14641	.;.;DVL2_HUMAN	H	37	ENSP00000005340:R37H	ENSP00000005340:R37H	R	-	2	0	DVL2	7078196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.334000	0.52097	2.055000	0.61198	0.484000	0.47621	CGC		0.602	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		5	280	0	0	0	0.014758	0	5	280				
KAT6A	7994	broad.mit.edu	37	8	41791386	41791386	+	Missense_Mutation	SNP	G	G	A	rs148148486		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr8:41791386G>A	ENST00000396930.3	-	18	4895	c.4352C>T	c.(4351-4353)gCg>gTg	p.A1451V	KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V|KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1451					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTGACACGCCGCAAGAGTTTC	0.527																																						ENST00000396930.3																			0											c.(4351-4353)gCg>gTg		K(lysine) acetyltransferase 6A		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	120.0	108.0	112.0		4352,4352,4352	6.0	0.3	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1451/2005,1451/2005,1451/2005	41791386	1,13005	2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791386G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4352C>T	8.37:g.41791386G>A	ENSP00000380136:p.Ala1451Val					KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V	p.A1451V	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	4895	-			1451					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4352C>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965995	0.34659	0.0	1.16E-4	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.62105	0.05;0.05;0.05	5.96	5.96	0.96718	.	0.067965	0.64402	D	0.000009	T	0.66906	0.2837	N	0.24115	0.695	0.58432	D	0.999995	D	0.71674	0.998	P	0.58620	0.842	T	0.68334	-0.5436	10	0.56958	D	0.05	-17.023	20.4043	0.99006	0.0:0.0:1.0:0.0	.	1451	Q92794	KAT6A_HUMAN	V	1451	ENSP00000265713:A1451V;ENSP00000385888:A1451V;ENSP00000380136:A1451V	ENSP00000265713:A1451V	A	-	2	0	KAT6A	41910543	1.000000	0.71417	0.315000	0.25238	0.008000	0.06430	6.130000	0.71663	2.823000	0.97156	0.650000	0.86243	GCG		0.527	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		4	208	0	0	0	0.150653	0	4	208				
STRBP	55342	broad.mit.edu	37	9	125898354	125898354	+	Missense_Mutation	SNP	G	G	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr9:125898354G>A	ENST00000348403.5	-	16	2168	c.1739C>T	c.(1738-1740)gCg>gTg	p.A580V	STRBP_ENST00000360998.3_Missense_Mutation_p.A566V|STRBP_ENST00000447404.2_Missense_Mutation_p.A580V	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	580					cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.A580V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ATTATTTGCCGCATTGGGTCC	0.398																																						ENST00000447404.2																			1	Substitution - Missense(1)	p.A580V(1)	endometrium(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						c.(1738-1740)gCg>gTg		spermatid perinuclear RNA binding protein							121.0	118.0	119.0					9																	125898354		2203	4300	6503	SO:0001583	missense	0				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125898354G>A	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1739C>T	9.37:g.125898354G>A	ENSP00000321347:p.Ala580Val					STRBP_ENST00000360998.3_Missense_Mutation_p.A566V|STRBP_ENST00000348403.5_Missense_Mutation_p.A580V	p.A580V			Q96SI9	STRBP_HUMAN			15	2043	-			580					Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	ENST00000348403.5	37	c.1739C>T	CCDS6851.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010221	0.93346	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.18960	2.44;2.44;2.18	5.63	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.21590	0.0520	L	0.32530	0.975	0.58432	D	0.999997	D;D	0.65815	0.991;0.995	B;P	0.46237	0.311;0.508	T	0.01341	-1.1380	10	0.49607	T	0.09	-13.414	14.512	0.67794	0.0698:0.0:0.9302:0.0	.	580;566	Q96SI9;Q96SI9-2	STRBP_HUMAN;.	V	580;580;566	ENSP00000415968:A580V;ENSP00000321347:A580V;ENSP00000354271:A566V	ENSP00000321347:A580V	A	-	2	0	STRBP	124938175	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	1.389000	0.46526	0.655000	0.94253	GCG		0.398	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1			5	135	0	0	0	0.021553	0	5	135				
GSTM5	2949	broad.mit.edu	37	1	110257888	110257888	+	Intron	SNP	T	T	C			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr1:110257888T>C	ENST00000256593.3	+	7	625				GSTM5_ENST00000369813.1_Missense_Mutation_p.F157S|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TCCTTTCTCTTTGATGCCCCT	0.483																																						ENST00000369813.1																			0				NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21						c.(469-471)tTt>tCt		glutathione S-transferase mu 5	Glutathione(DB00143)						110.0	103.0	105.0					1																	110257888		2203	4300	6503	SO:0001627	intron_variant	2949				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	g.chr1:110257888T>C	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.567+26T>C	1.37:g.110257888T>C						GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron	p.F157S			P46439	GSTM5_HUMAN		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	5	1375	+		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	0			GST C-terminal.		A8K0V8|Q6PD78	Missense_Mutation	SNP	ENST00000256593.3	37	c.470T>C	CCDS811.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878146	0.33162	.	.	ENSG00000134201	ENST00000369813	T	0.06933	3.24	4.51	3.35	0.38373	.	.	.	.	.	T	0.01558	0.0050	.	.	.	0.09310	N	0.999998	B	0.24317	0.101	B	0.16722	0.016	T	0.47623	-0.9103	7	.	.	.	.	7.9384	0.29944	0.0:0.0:0.2092:0.7908	.	157	Q5T8Q9	.	S	157	ENSP00000358828:F157S	.	F	+	2	0	GSTM5	110059411	0.000000	0.05858	0.001000	0.08648	0.049000	0.14656	0.050000	0.14120	0.722000	0.32252	0.487000	0.48397	TTT		0.483	GSTM5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032200.1	NM_000851		12	103	0	0	0	0.093190	0	12	103				
PAPSS1	9061	broad.mit.edu	37	4	108566109	108566109	+	Missense_Mutation	SNP	T	T	A			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr4:108566109T>A	ENST00000265174.4	-	10	1627	c.1355A>T	c.(1354-1356)cAc>cTc	p.H452L		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	452					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		ACCCAGAGGGTGGAGGAGGAG	0.542																																						ENST00000265174.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16						c.(1354-1356)cAc>cTc		3'-phosphoadenosine 5'-phosphosulfate synthase 1							102.0	98.0	99.0					4																	108566109		2203	4300	6503	SO:0001583	missense	9061				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	g.chr4:108566109T>A	Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.1355A>T	4.37:g.108566109T>A	ENSP00000265174:p.His452Leu						p.H452L	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)	10	1627	-		Hepatocellular(203;0.217)	452					O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	ENST00000265174.4	37	c.1355A>T	CCDS3676.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710232	0.89018	.	.	ENSG00000138801	ENST00000265174	T	0.33865	1.39	5.22	5.22	0.72569	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	T	0.74966	0.3786	H	0.98818	4.34	0.80722	D	1	D	0.61080	0.989	D	0.68192	0.956	D	0.85959	0.1469	10	0.87932	D	0	-26.6538	15.1269	0.72489	0.0:0.0:0.0:1.0	.	452	O43252	PAPS1_HUMAN	L	452	ENSP00000265174:H452L	ENSP00000265174:H452L	H	-	2	0	PAPSS1	108785558	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.522000	0.81844	1.972000	0.57404	0.377000	0.23210	CAC		0.542	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253946.2			12	109	0	0	0	0.093190	0	12	109				
KANK3	256949	broad.mit.edu	37	19	8389408	8389408	+	Silent	SNP	G	G	A	rs529108334		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:8389408G>A	ENST00000593649.1	-	10	2372	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	KANK3_ENST00000330915.3_Silent_p.I769I			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	769										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CCTCCAGGGCGATGGCCAGGG	0.637																																						ENST00000330915.3																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						c.(2305-2307)atC>atT		KN motif and ankyrin repeat domains 3							27.0	26.0	27.0					19																	8389408		2203	4300	6503	SO:0001819	synonymous_variant	256949							g.chr19:8389408G>A	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.2307C>T	19.37:g.8389408G>A						KANK3_ENST00000593649.1_Silent_p.I769I	p.I769I	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN			10	2372	-			769					Q6NZI1|Q6ZQR3|Q8IUV2	Silent	SNP	ENST00000593649.1	37	c.2307C>T																																																																																					0.637	KANK3-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000461379.1	NM_198471		3	41	0	0	0	0.115264	0	3	41				
TMPRSS4-AS1	100526771	broad.mit.edu	37	11	117916045	117916046	+	RNA	INS	-	-	CA	rs57274300|rs34102097|rs72110569|rs148954121		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr11:117916045_117916046insCA	ENST00000606951.1	-	0	195				TMPRSS4-AS1_ENST00000527695.1_RNA|TMPRSS4-AS1_ENST00000527329.1_RNA	NR_038318.1				TMPRSS4 antisense RNA 1																		ATacacacatgcacacacacac	0.416																																						ENST00000606951.1																			0																																																			0							g.chr11:117916045_117916046insCA			11q23.3	2012-10-12	2012-08-15		ENSG00000255274	ENSG00000255274		"""Long non-coding RNAs"""	44179	non-coding RNA	RNA, long non-coding			"""TMPRSS4 antisense RNA 1 (non-protein coding)"""				Standard	NR_038318		Approved		uc001pry.1		OTTHUMG00000166993		11.37:g.117916054_117916055dupCA						TMPRSS4-AS1_ENST00000527695.1_RNA|TMPRSS4-AS1_ENST00000527329.1_RNA		NR_038318.1						0	195	-									RNA	INS	ENST00000606951.1	37																																																																																						0.416	TMPRSS4-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000470982.1	NR_038318		3	3						3	3	---	---	---	---
ZNF219	51222	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845|rs11278664|rs3841049	byFrequency	TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cagcctcca>cca	p.QP233del	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_In_Frame_Del_p.QP233del|ZNF219_ENST00000451119.2_In_Frame_Del_p.QP233del|ZNF219_ENST00000556101.1_5'Flank	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 4; AAH00694). {ECO:0000305}.	negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1230	0.245607	0.2549	0.3775	5008	,	,		14407	0.125		0.1879	False		,,,				2504	0.3231					ENST00000360947.3																			3	Deletion - In frame(3)	p.Q233_P234delQP(3)	large_intestine(1)|prostate(1)|breast(1)	breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8						c.(697-705)cca>c		zinc finger protein 219			,,	821,2789		238,345,1222					,,	2.7	1.0		dbSNP_107	4	1173,6075		279,615,2730	no	coding,coding,coding	ZNF219	NM_016423.2,NM_001102454.1,NM_001101672.1	,,	517,960,3952	A1A1,A1R,RR		16.1838,22.7424,18.3643	,,	,,		1994,8864				SO:0001651	inframe_deletion	0				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21560753_21560758delGAGGCT	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.698_703delAGCCTC	14.37:g.21560759_21560764delGAGGCT	ENSP00000354206:p.Gln233_Pro234del		OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	749	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	1109_1114	-	all_cancers(95;0.00185)		233	Missing (in Ref. 3; AAH00694).				D3DS16|Q53Y57|Q8IYC1|Q9BW28	In_Frame_Del	DEL	ENST00000360947.3	37	c.698_703delAGCCTC	CCDS9568.1																																																																																				0.743	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			4	5						4	5	---	---	---	---
TBC1D3P3	653017	broad.mit.edu	37	17	20451560	20451561	+	lincRNA	INS	-	-	T			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr17:20451560_20451561insT	ENST00000591705.1	+	0	2877_2878																											TTTCCTGAATGTTCAGGAGGAC	0.515																																						ENST00000591705.1																			0																																																			0							g.chr17:20451560_20451561insT																													17.37:g.20451562_20451562dupT														0	2877_2878	+									RNA	INS	ENST00000591705.1	37																																																																																						0.515	RP11-434D2.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441761.2			2	4						2	4	---	---	---	---
C19orf25	148223	broad.mit.edu	37	19	1482365	1482366	+	5'Flank	DEL	CT	CT	-			TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr19:1482365_1482366delCT	ENST00000436106.2	-	0	0				CTB-25B13.6_ENST00000585643.1_RNA|PCSK4_ENST00000300954.5_Frame_Shift_Del_p.E602fs			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACAGCCCCTCTGTGTCCCG	0.728																																						ENST00000300954.5																			0				cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15						c.(1804-1806)gfs		proprotein convertase subtilisin/kexin type 4																																				SO:0001631	upstream_gene_variant	54760				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr19:1482365_1482366delCT	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482367_1482368delCT	Exception_encountered						p.E602fs	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1866_1867	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	602					B3KQN6|Q8N9R7|Q8WV94	Frame_Shift_Del	DEL	ENST00000436106.2	37	c.1805_1806delAG	CCDS45898.1																																																																																				0.728	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449694.1	NM_152482		3	3						3	3	---	---	---	---
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GTGT	rs61433517|rs71322752		TCGA-CE-A13K-01A-11D-A10S-08	TCGA-CE-A13K-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee4e7eca-ee5d-4f91-a4fd-9abbb2cf7b14	b4558539-6baf-4d9d-a6a8-3b5f4d803141	g.chr22:25855682_25855683insGTGT	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CCTGGCAGCTGgtgtgtgtgtg	0.53																																						ENST00000354451.2																			0																																																			0							g.chr22:25855682_25855683insGTGT	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855687_25855690dupGTGT														0	366	+									RNA	INS	ENST00000609084.1	37																																																																																						0.530	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472347.1			2	4						2	4	---	---	---	---
