#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G	rs113380635		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RNU6-1268P_ENST00000391214.1_RNA|RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(922-924)gTt>gCt		POTE ankyrin domain family, member M							42.0	37.0	39.0					14																	20010235		365	763	1128	SO:0001583	missense	641455							g.chr14:20010235A>G		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.923T>C	14.37:g.20010235A>G	ENSP00000452296:p.Val308Ala		Somatic				RP11-244H18.1_ENST00000547584.1_lincRNA	p.V308A	NM_001145442.1	NP_001138914.1	WXS	Illumina GAIIx	Phase_I	A6NI47	POTEM_HUMAN			5	974	-			308						Missense_Mutation	SNP	ENST00000551509.1	37	c.923T>C	CCDS45076.1	.	.	.	.	.	.	.	.	.	.	g	5.617	0.298596	0.10622	.	.	ENSG00000187537	ENST00000551509;ENST00000439503;ENST00000344684	T	0.60040	0.22	0.906	0.906	0.19314	Ankyrin repeat-containing domain (4);	0.000000	0.32655	N	0.005811	T	0.10723	0.0262	N	0.00039	-2.51	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.25187	-1.0139	8	.	.	.	.	3.4158	0.07375	0.2955:0.0:0.7045:0.0	.	308	A6NI47	POTEM_HUMAN	A	308;393;308	ENSP00000452296:V308A	.	V	-	2	0	POTEM	19080235	0.621000	0.27077	0.813000	0.32504	0.042000	0.13812	0.922000	0.28734	-0.020000	0.14032	-1.160000	0.01791	GTT		0.368	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		4	167	0	0	0	1	0	4	167				
RALYL	138046	broad.mit.edu	37	8	85799947	85799947	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr8:85799947C>T	ENST00000521268.1	+	8	1899	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RALYL_ENST00000517638.1_Missense_Mutation_p.A278V|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.A265V|RALYL_ENST00000518566.1_Missense_Mutation_p.A254V|RALYL_ENST00000522455.1_Missense_Mutation_p.A265V|RALYL_ENST00000523850.1_Missense_Mutation_p.A192V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	265							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GGGCCAGATGCCGATGGAGAA	0.488																																						ENST00000521268.1																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.(793-795)gCc>gTc		RALY RNA binding protein-like							150.0	154.0	153.0					8																	85799947		2007	4178	6185	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85799947C>T		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.794C>T	8.37:g.85799947C>T	ENSP00000430367:p.Ala265Val		Somatic				RALYL_ENST00000518566.1_Missense_Mutation_p.A254V|RALYL_ENST00000517638.1_Missense_Mutation_p.A278V|RALYL_ENST00000522455.1_Missense_Mutation_p.A265V|RALYL_ENST00000523850.1_Missense_Mutation_p.A192V|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000521695.1_Missense_Mutation_p.A265V	p.A265V	NM_173848.5	NP_776247.3	WXS	Illumina GAIIx	Phase_I	Q86SE5	RALYL_HUMAN			8	1899	+			265					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.794C>T	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098964	0.37048	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850	T;T;T;T;T;T	0.14144	2.94;2.94;2.94;2.96;2.94;2.53	5.46	5.46	0.80206	.	0.295105	0.32068	N	0.006622	T	0.10035	0.0246	N	0.13043	0.29	0.80722	D	1	B;B;B;B	0.15930	0.003;0.015;0.015;0.008	B;B;B;B	0.16289	0.001;0.015;0.009;0.002	T	0.17501	-1.0367	10	0.35671	T	0.21	-8.5446	16.1174	0.81319	0.0:0.7977:0.2023:0.0	.	254;192;278;265	B3KT61;Q86SE5-2;G3V129;Q86SE5	.;.;.;RALYL_HUMAN	V	265;265;265;254;278;192	ENSP00000430394:A265V;ENSP00000428667:A265V;ENSP00000430367:A265V;ENSP00000430065:A254V;ENSP00000430128:A278V;ENSP00000428807:A192V	ENSP00000430128:A278V	A	+	2	0	RALYL	85962502	1.000000	0.71417	0.932000	0.37286	0.902000	0.53008	3.471000	0.53107	2.562000	0.86427	0.561000	0.74099	GCC		0.488	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1			4	212	0	0	0	1	0	4	212				
FBN1	2200	broad.mit.edu	37	15	48730067	48730067	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:48730067A>G	ENST00000316623.5	-	51	6666	c.6211T>C	c.(6211-6213)Tca>Cca	p.S2071P		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2071	TB 8.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGGTGATGAACACTTTCCT	0.493																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6211-6213)Tca>Cca		fibrillin 1							166.0	147.0	154.0					15																	48730067		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48730067A>G	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6211T>C	15.37:g.48730067A>G	ENSP00000325527:p.Ser2071Pro		Somatic					p.S2071P	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	51	6666	-		all_lung(180;0.00279)	2071			TB 8.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6211T>C	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.760190	0.69763	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93712	-3.27	5.52	4.39	0.52855	Matrix fibril-associated (3);TGF-beta binding (1);	0.437603	0.26213	N	0.025677	D	0.93413	0.7899	M	0.80982	2.52	0.80722	D	1	P	0.47191	0.891	P	0.48368	0.575	D	0.91847	0.5488	10	0.51188	T	0.08	.	6.5568	0.22464	0.7897:0.0:0.0732:0.1371	.	2071	P35555	FBN1_HUMAN	P	2071;639;961	ENSP00000325527:S2071P	ENSP00000325527:S2071P	S	-	1	0	FBN1	46517359	1.000000	0.71417	0.956000	0.39512	0.893000	0.52053	3.053000	0.49901	1.101000	0.41535	0.460000	0.39030	TCA		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			32	61	0	0	0	1	0	32	61				
EFTUD1	79631	broad.mit.edu	37	15	82517553	82517553	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:82517553G>A	ENST00000268206.7	-	12	1413	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	EFTUD1_ENST00000561331.1_5'Flank|EFTUD1_ENST00000359445.3_Silent_p.S364S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	415					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CAAACATTTTGGAAACAAATA	0.378																																						ENST00000268206.7																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(1243-1245)tcC>tcT		elongation factor Tu GTP binding domain containing 1							64.0	60.0	61.0					15																	82517553		1837	4092	5929	SO:0001819	synonymous_variant	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82517553G>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1245C>T	15.37:g.82517553G>A			Somatic				EFTUD1_ENST00000359445.3_Silent_p.S364S	p.S415S	NM_024580.5	NP_078856.4	WXS	Illumina GAIIx	Phase_I	Q7Z2Z2	ETUD1_HUMAN			12	1413	-			415					A6NKY5|B7Z6I0|Q9H8Z6	Silent	SNP	ENST00000268206.7	37	c.1245C>T	CCDS42071.1																																																																																				0.378	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		14	20	0	0	0	1	0	14	20				
ZNF79	7633	broad.mit.edu	37	9	130206861	130206861	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:130206861G>A	ENST00000342483.5	+	5	1288	c.882G>A	c.(880-882)caG>caA	p.Q294Q	ZNF79_ENST00000543471.1_Silent_p.Q270Q	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTTGTTCAGCATCAGAGAA	0.542																																						ENST00000342483.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						c.(880-882)caG>caA		zinc finger protein 79							123.0	107.0	112.0					9																	130206861		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130206861G>A	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.882G>A	9.37:g.130206861G>A			Somatic				ZNF79_ENST00000543471.1_Silent_p.Q270Q	p.Q294Q	NM_007135.2	NP_009066.2	WXS	Illumina GAIIx	Phase_I	Q15937	ZNF79_HUMAN			5	1288	+			294					Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.882G>A	CCDS6871.1																																																																																				0.542	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		3	45	0	0	0	1	0	3	45				
RGS12	6002	broad.mit.edu	37	4	3419159	3419159	+	Silent	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr4:3419159G>A	ENST00000344733.5	+	9	3556	c.2652G>A	c.(2650-2652)ctG>ctA	p.L884L	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Silent_p.L884L|RGS12_ENST00000306648.7_Silent_p.L282L|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.L884L|RGS12_ENST00000338806.4_Silent_p.L236L|RGS12_ENST00000538395.1_Silent_p.L226L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	884					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATGAAGAGCTGGGGGATGAGG	0.498																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2650-2652)ctG>ctA		regulator of G-protein signaling 12							46.0	49.0	48.0					4																	3419159		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3419159G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2652G>A	4.37:g.3419159G>A			Somatic				RGS12_ENST00000306648.7_Silent_p.L282L|RGS12_ENST00000338806.4_Silent_p.L236L|RGS12_ENST00000538395.1_Silent_p.L226L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000344733.5_Silent_p.L884L|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.L884L	p.L884L	NM_002926.3	NP_002917.1	WXS	Illumina GAIIx	Phase_I	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	3556	+			884					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.2652G>A	CCDS3366.1																																																																																				0.498	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		15	25	0	0	0	1	0	15	25				
ZBTB7B	51043	broad.mit.edu	37	1	154987749	154987749	+	Missense_Mutation	SNP	C	C	T	rs199978828		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr1:154987749C>T	ENST00000368426.3	+	3	750	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R205W|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R239W|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R205W	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	205					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCGCAAGCCCCGGAAAGCTTT	0.647																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(613-615)Cgg>Tgg		zinc finger and BTB domain containing 7B							34.0	40.0	38.0					1																	154987749		2201	4297	6498	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987749C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.613C>T	1.37:g.154987749C>T	ENSP00000357411:p.Arg205Trp		Somatic				ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R205W|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R239W|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R205W	p.R205W	NM_001256455.1	NP_001243384.1	WXS	Illumina GAIIx	Phase_I	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	750	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		205					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.613C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227362	0.79576	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.10099	2.95;2.95;2.91;2.95	4.09	4.09	0.47781	.	0.477271	0.19272	N	0.118382	T	0.12178	0.0296	L	0.27053	0.805	0.47698	D	0.999497	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.03344	-1.1046	10	0.66056	D	0.02	.	11.6405	0.51230	0.0:1.0:0.0:0.0	.	205;205;239	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	W	205;205;239;205	ENSP00000438647:R205W;ENSP00000357411:R205W;ENSP00000406286:R239W;ENSP00000292176:R205W	ENSP00000292176:R205W	R	+	1	2	ZBTB7B	153254373	0.998000	0.40836	0.997000	0.53966	0.946000	0.59487	1.699000	0.37804	2.105000	0.64084	0.462000	0.41574	CGG		0.647	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		13	27	0	0	0	1	0	13	27				
EVC	2121	broad.mit.edu	37	4	5798849	5798849	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr4:5798849C>T	ENST00000264956.6	+	14	2171	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	EVC_ENST00000382674.2_Missense_Mutation_p.R663W|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	663					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GACGCAGATGCGGCTATCGGG	0.677																																						ENST00000382674.2																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28						c.(1987-1989)Cgg>Tgg		Ellis van Creveld syndrome							43.0	42.0	42.0					4																	5798849		2203	4300	6503	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5798849C>T	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1987C>T	4.37:g.5798849C>T	ENSP00000264956:p.Arg663Trp		Somatic				EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.R663W	p.R663W			WXS	Illumina GAIIx	Phase_I	P57679	EVC_HUMAN			14	2171	+		Myeloproliferative disorder(84;0.117)	663						Missense_Mutation	SNP	ENST00000264956.6	37	c.1987C>T	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598476	0.66332	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.62639	0.01;0.01	5.04	-3.25	0.05079	.	0.000000	0.85682	D	0.000000	T	0.74465	0.3720	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77768	-0.2464	10	0.87932	D	0	.	17.6432	0.88142	0.2058:0.7942:0.0:0.0	.	663	P57679	EVC_HUMAN	W	663	ENSP00000264956:R663W;ENSP00000372120:R663W	ENSP00000264956:R663W	R	+	1	2	EVC	5849750	0.512000	0.26186	0.982000	0.44146	0.656000	0.38851	0.084000	0.14891	-0.392000	0.07751	-0.293000	0.09583	CGG		0.677	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			3	38	0	0	0	1	0	3	38				
SLC26A9	115019	broad.mit.edu	37	1	205897160	205897160	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr1:205897160G>A	ENST00000367135.3	-	9	1084	c.971C>T	c.(970-972)tCg>tTg	p.S324L	SLC26A9_ENST00000340781.4_Missense_Mutation_p.S324L|SLC26A9_ENST00000367134.2_Missense_Mutation_p.S324L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	324					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GACCACAGGCGACACCGGGGT	0.627																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(970-972)tCg>tTg		solute carrier family 26 (anion exchanger), member 9							48.0	44.0	45.0					1																	205897160		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897160G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.971C>T	1.37:g.205897160G>A	ENSP00000356103:p.Ser324Leu		Somatic				SLC26A9_ENST00000367134.2_Missense_Mutation_p.S324L|SLC26A9_ENST00000340781.4_Missense_Mutation_p.S324L	p.S324L	NM_052934.3	NP_443166.1	WXS	Illumina GAIIx	Phase_I	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		9	1084	-	Breast(84;0.201)		324					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.971C>T	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	8.094	0.775066	0.16051	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.91011	-2.77;-2.77;-2.77	5.08	-5.06	0.02946	Sulphate transporter (1);	0.940463	0.08820	N	0.888975	T	0.64238	0.2580	N	0.00395	-1.55	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.62978	-0.6739	10	0.05959	T	0.93	.	10.9397	0.47266	0.7013:0.1102:0.1885:0.0	.	324;324	Q7LBE3;B1AVM8	S26A9_HUMAN;.	L	324	ENSP00000341682:S324L;ENSP00000356103:S324L;ENSP00000356102:S324L	ENSP00000341682:S324L	S	-	2	0	SLC26A9	204163783	0.000000	0.05858	0.003000	0.11579	0.578000	0.36192	0.109000	0.15417	-1.365000	0.02158	-0.136000	0.14681	TCG		0.627	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		12	14	0	0	0	1	0	12	14				
CHAT	1103	broad.mit.edu	37	10	50863168	50863168	+	Silent	SNP	C	C	T	rs145370753		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr10:50863168C>T	ENST00000337653.2	+	12	1815	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	CHAT_ENST00000339797.1_Silent_p.Y436Y|CHAT_ENST00000395562.2_Silent_p.Y472Y|CHAT_ENST00000351556.3_Silent_p.Y436Y|CHAT_ENST00000455728.2_Silent_p.Y436Y|CHAT_ENST00000395559.2_Silent_p.Y436Y	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	554					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	TGCCCACCTACGAGAGCGCGT	0.527																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(1414-1416)taC>taT		choline O-acetyltransferase	Choline(DB00122)	C	,,,,,,	0,4406		0,0,2203	56.0	57.0	57.0		1308,1416,1308,1662,1308,1308,1308	-3.8	1.0	10	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CHAT	NM_001142929.1,NM_001142933.1,NM_001142934.1,NM_020549.4,NM_020984.3,NM_020985.3,NM_020986.3	,,,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,	436/631,472/667,436/631,554/749,436/631,436/631,436/631	50863168	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50863168C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1662C>T	10.37:g.50863168C>T			Somatic				CHAT_ENST00000339797.1_Silent_p.Y436Y|CHAT_ENST00000455728.2_Silent_p.Y436Y|CHAT_ENST00000337653.2_Silent_p.Y554Y|CHAT_ENST00000395559.2_Silent_p.Y436Y|CHAT_ENST00000351556.3_Silent_p.Y436Y	p.Y472Y	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	WXS	Illumina GAIIx	Phase_I	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	13	1885	+		all_neural(218;0.107)	554					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.1416C>T	CCDS7232.1																																																																																				0.527	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		28	45	0	0	0	1	0	28	45				
FAM86C2P	645332	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:67564228C>T	ENST00000528089.1	-	0	912							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GAGGAGCCCGCTGGTGCTCCC	0.627																																						ENST00000528089.1																			0																																																			0							g.chr11:67564228C>T			11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564228C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	912	-									RNA	SNP	ENST00000528089.1	37																																																																																						0.627	FAM86C2P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393796.1			3	35	0	0	0	1	0	3	35				
KIF13B	23303	broad.mit.edu	37	8	29024912	29024912	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr8:29024912C>T	ENST00000524189.1	-	11	1174	c.1136G>A	c.(1135-1137)cGg>cAg	p.R379Q	KIF13B_ENST00000521515.1_Missense_Mutation_p.R379Q	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	379					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCCCGGAGTTTCTC	0.552																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(1135-1137)cGg>cAg		kinesin family member 13B							36.0	36.0	36.0					8																	29024912		1954	4156	6110	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29024912C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1136G>A	8.37:g.29024912C>T	ENSP00000427900:p.Arg379Gln		Somatic				KIF13B_ENST00000521515.1_Missense_Mutation_p.R379Q	p.R379Q	NM_015254.3	NP_056069.2	WXS	Illumina GAIIx	Phase_I	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	11	1174	-		Ovarian(32;0.000536)	379					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.1136G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769807	0.69992	.	.	ENSG00000197892	ENST00000524189;ENST00000521515	T;T	0.78246	-1.16;-1.09	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	D	0.84288	0.5439	L	0.45581	1.43	0.80722	D	1	D;D;P	0.71674	0.997;0.998;0.946	D;P;P	0.70227	0.968;0.812;0.606	D	0.85911	0.1440	10	0.62326	D	0.03	.	17.4419	0.87567	0.0:1.0:0.0:0.0	.	365;379;379	C9JK41;Q9NQT8;F8VPJ2	.;KI13B_HUMAN;.	Q	379	ENSP00000427900:R379Q;ENSP00000429201:R379Q	ENSP00000429201:R379Q	R	-	2	0	KIF13B	29080831	0.992000	0.36948	0.990000	0.47175	0.982000	0.71751	3.163000	0.50763	2.347000	0.79759	0.561000	0.74099	CGG		0.552	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			28	19	0	0	0	1	0	28	19				
ZNF157	7712	broad.mit.edu	37	X	47272125	47272125	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chrX:47272125T>C	ENST00000377073.3	+	4	739	c.653T>C	c.(652-654)tTt>tCt	p.F218S		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	218					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAGAGGCCCTTTGAATGTAAT	0.438																																						ENST00000377073.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(652-654)tTt>tCt		zinc finger protein 157							64.0	58.0	60.0					X																	47272125		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272125T>C	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.653T>C	X.37:g.47272125T>C	ENSP00000366273:p.Phe218Ser		Somatic					p.F218S	NM_003446.3	NP_003437.2	WXS	Illumina GAIIx	Phase_I	P51786	ZN157_HUMAN			4	739	+			218					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.653T>C	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298904	0.40694	.	.	ENSG00000147117	ENST00000377073	T	0.24908	1.83	2.87	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37320	0.0999	M	0.89353	3.025	0.18873	N	0.999981	P	0.49307	0.922	P	0.46825	0.528	T	0.29792	-1.0000	9	0.87932	D	0	.	6.3279	0.21255	0.4938:0.0:0.0:0.5062	.	218	P51786	ZN157_HUMAN	S	218	ENSP00000366273:F218S	ENSP00000366273:F218S	F	+	2	0	ZNF157	47157069	0.001000	0.12720	0.407000	0.26434	0.946000	0.59487	-0.161000	0.10026	-0.169000	0.10834	0.430000	0.28490	TTT		0.438	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	NM_003446		29	3	0	0	0	1	0	29	3				
IGKV1D-17	28900	broad.mit.edu	37	2	90122037	90122037	+	RNA	SNP	C	C	T	rs187567710	byFrequency	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr2:90122037C>T	ENST00000483379.1	+	0	436									immunoglobulin kappa variable 1D-17																		CAAGGTTCAGCGGCAGTGGAT	0.473													C|||	11	0.00219649	0.0	0.0	5008	,	,		18434	0.0109		0.0	False		,,,				2504	0.0					ENST00000483379.1																			0																				113.0	107.0	109.0					2																	90122037		1854	4084	5938			0							g.chr2:90122037C>T	X63392		2p11.2	2012-02-08			ENSG00000242766	ENSG00000242766		"""Immunoglobulins / IGK locus"""	5749	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151610		2.37:g.90122037C>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	436	+									RNA	SNP	ENST00000483379.1	37																																																																																						0.473	IGKV1D-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323282.1	NG_000833		6	121	0	0	0	1	0	6	121				
MTNR1B	4544	broad.mit.edu	37	11	92703062	92703062	+	Silent	SNP	C	C	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:92703062C>A	ENST00000257068.2	+	1	177	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	57					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	ACGTCGTGGGCAACCTCCTGG	0.682																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(169-171)ggC>ggA		melatonin receptor 1B	Ramelteon(DB00980)						35.0	28.0	31.0					11																	92703062		2200	4296	6496	SO:0001819	synonymous_variant	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92703062C>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.171C>A	11.37:g.92703062C>A			Somatic					p.G57G	NM_005959.3	NP_005950.1	WXS	Illumina GAIIx	Phase_I	P49286	MTR1B_HUMAN			1	177	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	57						Silent	SNP	ENST00000257068.2	37	c.171C>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	C	6.963	0.547606	0.13312	.	.	ENSG00000134640	ENST00000528076	.	.	.	4.57	1.55	0.23275	.	.	.	.	.	T	0.53433	0.1796	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39702	-0.9601	4	.	.	.	-21.4303	6.1095	0.20092	0.0:0.6661:0.1587:0.1752	.	.	.	.	E	38	.	.	A	+	2	0	MTNR1B	92342710	0.949000	0.32298	0.955000	0.39395	0.159000	0.22180	-0.034000	0.12225	0.029000	0.15352	-0.157000	0.13467	GCA		0.682	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			4	6	1	0	0.0215528	1	0.0215528	4	6				
FBN1	2200	broad.mit.edu	37	15	48730066	48730066	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:48730066G>A	ENST00000316623.5	-	51	6667	c.6212C>T	c.(6211-6213)tCa>tTa	p.S2071L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2071	TB 8.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTGGGTGATGAACACTTTCC	0.493																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(6211-6213)tCa>tTa		fibrillin 1							165.0	146.0	153.0					15																	48730066		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48730066G>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.6212C>T	15.37:g.48730066G>A	ENSP00000325527:p.Ser2071Leu		Somatic					p.S2071L	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	51	6667	-		all_lung(180;0.00279)	2071			TB 8.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.6212C>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214719	0.58452	.	.	ENSG00000166147	ENST00000316623;ENST00000389087;ENST00000544030	D	0.93659	-3.26	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.437603	0.26213	N	0.025677	D	0.92361	0.7576	M	0.64260	1.97	0.80722	D	1	P	0.34462	0.454	B	0.34931	0.192	D	0.90027	0.4132	10	0.29301	T	0.29	.	19.5069	0.95121	0.0:0.0:1.0:0.0	.	2071	P35555	FBN1_HUMAN	L	2071;639;961	ENSP00000325527:S2071L	ENSP00000325527:S2071L	S	-	2	0	FBN1	46517358	1.000000	0.71417	0.935000	0.37517	0.900000	0.52787	3.258000	0.51507	2.941000	0.99782	0.655000	0.94253	TCA		0.493	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			32	60	0	0	0	1	0	32	60				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		33	27	0	0	0	1	0	33	27				
PMPCA	23203	broad.mit.edu	37	9	139316331	139316331	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr9:139316331G>A	ENST00000371717.3	+	12	1320	c.1311G>A	c.(1309-1311)atG>atA	p.M437I	PMPCA_ENST00000399219.3_Missense_Mutation_p.M306I	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	437					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGCTCATGATGAACCTGGAAT	0.622																																						ENST00000371717.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14						c.(1309-1311)atG>atA		peptidase (mitochondrial processing) alpha							100.0	81.0	88.0					9																	139316331		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139316331G>A	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1311G>A	9.37:g.139316331G>A	ENSP00000360782:p.Met437Ile		Somatic				PMPCA_ENST00000399219.3_Missense_Mutation_p.M306I	p.M437I	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	WXS	Illumina GAIIx	Phase_I	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	12	1320	+		Myeloproliferative disorder(178;0.0821)	437					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1311G>A	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989561	0.93106	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.32272	1.46;1.46;1.46	5.04	5.04	0.67666	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.65995	0.2745	M	0.92555	3.32	0.80722	D	1	P;D;D	0.89917	0.949;1.0;1.0	P;D;D	0.91635	0.636;0.999;0.999	T	0.75921	-0.3147	10	0.72032	D	0.01	.	17.3968	0.87448	0.0:0.0:1.0:0.0	.	306;437;437	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	I	437;306;145	ENSP00000360782:M437I;ENSP00000416702:M306I;ENSP00000408393:M145I	ENSP00000360782:M437I	M	+	3	0	PMPCA	138436152	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.474000	0.97718	2.332000	0.79248	0.655000	0.94253	ATG		0.622	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		25	15	0	0	0	1	0	25	15				
HDAC5	10014	broad.mit.edu	37	17	42157822	42157822	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr17:42157822C>G	ENST00000393622.2	-	22	3103	c.2772G>C	c.(2770-2772)tgG>tgC	p.W924C	HDAC5_ENST00000336057.5_Missense_Mutation_p.W839C|HDAC5_ENST00000586802.1_Missense_Mutation_p.W924C|HDAC5_ENST00000225983.6_Missense_Mutation_p.W925C	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	924	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CACCTCCTGTCCATGCCACGT	0.592																																						ENST00000225983.6																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2773-2775)tgG>tgC		histone deacetylase 5							113.0	104.0	107.0					17																	42157822		2203	4300	6503	SO:0001583	missense	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42157822C>G	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2772G>C	17.37:g.42157822C>G	ENSP00000377244:p.Trp924Cys		Somatic				HDAC5_ENST00000393622.2_Missense_Mutation_p.W924C|HDAC5_ENST00000586802.1_Missense_Mutation_p.W924C|HDAC5_ENST00000336057.5_Missense_Mutation_p.W839C	p.W925C			WXS	Illumina GAIIx	Phase_I	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	22	3098	-		Breast(137;0.00637)|Prostate(33;0.0313)	924			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Missense_Mutation	SNP	ENST00000393622.2	37	c.2775G>C	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051972	0.75960	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.70282	-0.47;-0.47;-0.47	4.82	4.82	0.62117	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.88474	0.6446	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.996;0.998	D	0.91694	0.5368	10	0.87932	D	0	-10.2938	16.824	0.85926	0.0:1.0:0.0:0.0	.	839;925;924	Q9UQL6-2;Q9UQL6-3;Q9UQL6	.;.;HDAC5_HUMAN	C	925;924;839	ENSP00000225983:W925C;ENSP00000377244:W924C;ENSP00000337290:W839C	ENSP00000225983:W925C	W	-	3	0	HDAC5	39513348	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.978000	0.40598	2.522000	0.85027	0.655000	0.94253	TGG		0.592	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	NM_001015053		22	24	0	0	0	1	0	22	24				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G			Somatic						NR_003086.1		WXS	Illumina GAIIx	Phase_I					0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	53	0	0	0	1	0	3	53				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A			Somatic				NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina GAIIx	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		4	43	0	0	0	1	0	4	43				
SBK2	646643	broad.mit.edu	37	19	56041168	56041168	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr19:56041168G>A	ENST00000413299.1	-	4	1016	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	SBK2_ENST00000344158.3_Missense_Mutation_p.R327C	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCAGGGGCGCCCCAGGTGC	0.736																																						ENST00000413299.1																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(979-981)Cgc>Tgc		SH3 domain binding kinase family, member 2							14.0	20.0	18.0					19																	56041168		2034	4168	6202	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56041168G>A		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.979C>T	19.37:g.56041168G>A	ENSP00000389015:p.Arg327Cys		Somatic				SBK2_ENST00000344158.3_Missense_Mutation_p.R327C	p.R327C	NM_001101401.2	NP_001094871.2	WXS	Illumina GAIIx	Phase_I	P0C263	SBK2_HUMAN			4	1016	-			327			Protein kinase.			Missense_Mutation	SNP	ENST00000413299.1	37	c.979C>T	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	G	7.939	0.742396	0.15642	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.70869	-0.52;-0.52	3.85	3.85	0.44370	Protein kinase, catalytic domain (1);	1.839090	0.02871	U	0.131554	T	0.60117	0.2244	N	0.24115	0.695	0.09310	N	0.999999	B	0.17667	0.023	B	0.14023	0.01	T	0.47983	-0.9074	10	0.51188	T	0.08	-6.4477	7.4852	0.27427	0.1178:0.0:0.8822:0.0	.	327	P0C263	SBK2_HUMAN	C	327	ENSP00000389015:R327C;ENSP00000345044:R327C	ENSP00000345044:R327C	R	-	1	0	SBK2	60732980	0.000000	0.05858	0.439000	0.26833	0.155000	0.21991	0.340000	0.19892	2.165000	0.68154	0.467000	0.42956	CGC		0.736	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401		4	18	0	0	0	1	0	4	18				
TBC1D10A	83874	broad.mit.edu	37	22	30690061	30690061	+	Silent	SNP	C	C	T			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr22:30690061C>T	ENST00000215790.7	-	7	908	c.744G>A	c.(742-744)ctG>ctA	p.L248L	TBC1D10A_ENST00000403477.3_Silent_p.L255L|RP1-130H16.18_ENST00000447976.1_Silent_p.L122L|TBC1D10A_ENST00000403362.1_Silent_p.L160L	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	248	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTTCTGCAACAGCGAGAAAA	0.602																																						ENST00000215790.7																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(742-744)ctG>ctA		TBC1 domain family, member 10A							129.0	118.0	122.0					22																	30690061		2203	4300	6503	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30690061C>T	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.744G>A	22.37:g.30690061C>T			Somatic				RP1-130H16.18_ENST00000447976.1_Silent_p.L122L|TBC1D10A_ENST00000403362.1_Silent_p.L160L|TBC1D10A_ENST00000403477.3_Silent_p.L255L	p.L248L	NM_031937.2	NP_114143.1	WXS	Illumina GAIIx	Phase_I	Q9BXI6	TB10A_HUMAN			7	908	-			248			Rab-GAP TBC.		B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.744G>A	CCDS13874.1																																																																																				0.602	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		26	31	0	0	0	1	0	26	31				
OR51B6	390058	broad.mit.edu	37	11	5372973	5372973	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr11:5372973T>C	ENST00000380219.1	+	1	236	c.236T>C	c.(235-237)gTg>gCg	p.V79A	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	79					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGCCCACAGTGCTAGGTGTT	0.478																																						ENST00000380219.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(235-237)gTg>gCg		olfactory receptor, family 51, subfamily B, member 6							133.0	122.0	126.0					11																	5372973		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5372973T>C		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.236T>C	11.37:g.5372973T>C	ENSP00000369568:p.Val79Ala		Somatic				HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	p.V79A	NM_001004750.1	NP_001004750.1	WXS	Illumina GAIIx	Phase_I	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	236	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	79						Missense_Mutation	SNP	ENST00000380219.1	37	c.236T>C	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066574	0.36470	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.03124	4.04	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000201	T	0.08492	0.0211	M	0.61703	1.905	0.31894	N	0.616853	P	0.35307	0.494	B	0.41202	0.35	T	0.00942	-1.1506	10	0.87932	D	0	.	13.9298	0.63989	0.0:0.0:0.0:1.0	.	79	Q9H340	O51B6_HUMAN	A	78;79	ENSP00000369568:V79A	ENSP00000369568:V79A	V	+	2	0	OR51B6	5329549	0.001000	0.12720	0.915000	0.36163	0.380000	0.30137	1.169000	0.31871	2.157000	0.67596	0.455000	0.32223	GTG		0.478	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		45	27	0	0	0	1	0	45	27				
GLA	2717	broad.mit.edu	37	X	100653465	100653465	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chrX:100653465T>C	ENST00000218516.3	-	6	913	c.892A>G	c.(892-894)Aat>Gat	p.N298D	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	298			N -> H (in FD). {ECO:0000269|PubMed:11668641, ECO:0000269|PubMed:8875188}.|N -> K (in FD). {ECO:0000269|PubMed:8807334}.|N -> S (in FD). {ECO:0000269|PubMed:9100224}.		glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGGAGGTCATTAGACATGAAT	0.493																																					Colon(193;776 2816 31189 44474)	ENST00000218516.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14	GRCh37	CM960774	GLA	M		c.(892-894)Aat>Gat		galactosidase, alpha	Agalsidase beta(DB00103)						140.0	136.0	138.0					X																	100653465		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100653465T>C	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.892A>G	X.37:g.100653465T>C	ENSP00000218516:p.Asn298Asp		Somatic				RPL36A-HNRNPH2_ENST00000409170.3_Intron	p.N298D	NM_000169.2	NP_000160.1	WXS	Illumina GAIIx	Phase_I	P06280	AGAL_HUMAN			6	913	-			298		N -> H (in FD).|N -> K (in FD).|N -> S (in FD).			Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.892A>G	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.593064	0.86953	.	.	ENSG00000102393	ENST00000218516	D	0.99683	-6.39	5.91	4.73	0.59995	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.080242	0.85682	D	0.000000	D	0.99629	0.9864	.	.	.	0.46167	D	0.998904	D	0.89917	1.0	D	0.76071	0.987	D	0.98104	1.0416	9	0.56958	D	0.05	-14.5514	12.4053	0.55436	0.0:0.0:0.1384:0.8616	.	298	P06280	AGAL_HUMAN	D	298	ENSP00000218516:N298D	ENSP00000218516:N298D	N	-	1	0	GLA	100540121	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	8.040000	0.89188	0.826000	0.34661	0.486000	0.48141	AAT		0.493	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			73	12	0	0	0	1	0	73	12				
IGKV1-17	28937	broad.mit.edu	37	2	89416929	89416929	+	RNA	SNP	G	G	A			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr2:89416929G>A	ENST00000490686.1	-	0	281									immunoglobulin kappa variable 1-17																		ATCCACTGCCGCTGAACCTTG	0.483																																						ENST00000490686.1																			0																				45.0	63.0	57.0					2																	89416929		1787	4047	5834			0							g.chr2:89416929G>A	X72808		2p11.2	2012-02-08			ENSG00000240382	ENSG00000240382		"""Immunoglobulins / IGK locus"""	5733	other	immunoglobulin gene							Standard	NG_000834		Approved	IGKV117, A30			OTTHUMG00000151650		2.37:g.89416929G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	281	-									RNA	SNP	ENST00000490686.1	37																																																																																						0.483	IGKV1-17-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323399.1	NG_000834		4	102	0	0	0	1	0	4	102				
MTMR10	54893	broad.mit.edu	37	15	31253222	31253224	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr15:31253222_31253224delCCT	ENST00000435680.1	-	7	715_717	c.618_620delAGG	c.(616-621)ggaggt>ggt	p.206_207GG>G	MTMR10_ENST00000425768.1_In_Frame_Del_p.E176del|MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_In_Frame_Del_p.124_125GG>G	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	206	Poly-Gly.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		AGCTCCATTAcctcctcctcctc	0.463																																						ENST00000435680.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(616-621)ggaggt>ggt		myotubularin related protein 10				52,8,3566		0,0,52,1,6,1754						-1.4	0.0			51	178,14,7612		1,0,176,1,12,3712	no	codingComplex	MTMR10	NM_017762.2		1,0,228,2,18,5466	A1A1,A1A2,A1R,A2A2,A2R,RR		2.4603,1.6547,2.2047				230,22,11178				SO:0001651	inframe_deletion	54893						phosphatase activity	g.chr15:31253222_31253224delCCT	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.618_620delAGG	15.37:g.31253231_31253233delCCT	ENSP00000402537:p.Gly207del		Somatic				MTMR10_ENST00000314404.8_5'UTR|MTMR10_ENST00000563714.1_In_Frame_Del_p.124_125GG>G|MTMR10_ENST00000425768.1_In_Frame_Del_p.E176del	p.206_207GG>G	NM_017762.2	NP_060232.2	WXS	Illumina GAIIx	Phase_I	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	7	715_717	-		all_lung(180;2.81e-11)	206			Poly-Gly.		Q6P4Q6	In_Frame_Del	DEL	ENST00000435680.1	37	c.618_620delAGG	CCDS45204.1																																																																																				0.463	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		2	4						2	4	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581467	17581471	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-			TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr20:17581467_17581471delAAGAA	ENST00000246069.7	+	2	434_438	c.88_92delAAGAA	c.(88-93)aagaaafs	p.KK30fs	DSTN_ENST00000474024.1_Frame_Shift_Del_p.KK13fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	30	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGAAGAAATCAAGAAAAGAAAGAAG	0.385																																						ENST00000246069.7																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(88-93)aagaaafs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581467_17581471delAAGAA	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.88_92delAAGAA	20.37:g.17581472_17581476delAAGAA	ENSP00000246069:p.Lys30fs		Somatic				DSTN_ENST00000474024.1_Frame_Shift_Del_p.KK13fs	p.KK30fs	NM_006870.3	NP_006861.1	WXS	Illumina GAIIx	Phase_I	P60981	DEST_HUMAN			2	434_438	+						ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Del	DEL	ENST00000246069.7	37	c.88_92delAAGAA	CCDS13127.1																																																																																				0.385	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		19	50						19	50	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	byFrequency	TCGA-V4-A9EE-01A-11D-A39W-08	TCGA-V4-A9EE-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91ceaaa8-b551-4047-9045-f7d633dc0962	9d2fc8be-62b9-43d2-bc05-c055812f76cf	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.e6-1																																						SO:0001630	splice_region_variant	0							g.chr20:29628226delG			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.229-1G>-	20.37:g.29628226delG			Somatic				FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site				WXS	Illumina GAIIx	Phase_I					6	608	+								C4AME5	Splice_Site	DEL	ENST00000278882.3	37																																																																																						0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	7	108						7	108	---	---	---	---
