#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
SLIT1	6585	broad.mit.edu	37	10	98778790	98778790	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr10:98778790G>C	ENST00000266058.4	-	27	3066	c.2821C>G	c.(2821-2823)Cac>Gac	p.H941D	SLIT1_ENST00000371070.4_Missense_Mutation_p.H941D|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	941	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGTCGTTGTGGCAGGTGCCC	0.637																																						ENST00000266058.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78						c.(2821-2823)Cac>Gac		slit homolog 1 (Drosophila)							48.0	44.0	46.0					10																	98778790		2203	4300	6503	SO:0001583	missense	6585				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	g.chr10:98778790G>C	AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.2821C>G	10.37:g.98778790G>C	ENSP00000266058:p.His941Asp					ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.H941D	p.H941D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)	27	3066	-		Colorectal(252;0.162)	941			EGF-like 1.		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	ENST00000266058.4	37	c.2821C>G	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.345444	0.24426	.	.	ENSG00000187122	ENST00000266058;ENST00000371070	D;D	0.92299	-3.01;-3.01	5.54	4.64	0.57946	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.290403	0.38959	N	0.001506	D	0.84920	0.5579	N	0.20483	0.58	0.80722	D	1	B	0.24317	0.101	B	0.25506	0.061	T	0.79470	-0.1790	10	0.16896	T	0.51	.	13.7739	0.63041	0.0747:0.0:0.9253:0.0	.	941	O75093	SLIT1_HUMAN	D	941	ENSP00000266058:H941D;ENSP00000360109:H941D	ENSP00000266058:H941D	H	-	1	0	SLIT1	98768780	1.000000	0.71417	0.874000	0.34290	0.914000	0.54420	5.321000	0.65846	1.341000	0.45600	0.462000	0.41574	CAC		0.637	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061		4	30	0	0	0	1	0	4	30				
GPS1	2873	broad.mit.edu	37	17	80011174	80011174	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr17:80011174G>A	ENST00000306823.6	+	2	81	c.58G>A	c.(58-60)Gac>Aac	p.D20N	GPS1_ENST00000355130.2_Missense_Mutation_p.D60N|RFNG_ENST00000429557.3_5'Flank|GPS1_ENST00000320548.4_Missense_Mutation_p.D4N|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000578552.1_Missense_Mutation_p.D20N|RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000392358.2_Missense_Mutation_p.D60N			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	20					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CATGCAGATCGACGTGGACCC	0.662																																						ENST00000392358.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13						c.(178-180)Gac>Aac		G protein pathway suppressor 1							75.0	68.0	70.0					17																	80011174		2200	4300	6500	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80011174G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.58G>A	17.37:g.80011174G>A	ENSP00000302873:p.Asp20Asn					GPS1_ENST00000578552.1_Missense_Mutation_p.D20N|GPS1_ENST00000306823.6_Missense_Mutation_p.D20N|GPS1_ENST00000320548.4_Missense_Mutation_p.D4N|GPS1_ENST00000355130.2_Missense_Mutation_p.D60N	p.D60N	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		2	527	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		20					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.178G>A	CCDS32774.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203956	0.58234	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	3.82	3.82	0.43975	.	0.000000	0.85682	D	0.000000	T	0.67655	0.2916	L	0.49455	1.56	0.80722	D	1	D;D;P;P;D	0.76494	0.986;0.998;0.8;0.925;0.999	P;P;B;B;P	0.62382	0.629;0.799;0.17;0.415;0.901	T	0.69457	-0.5140	9	0.44086	T	0.13	-23.0599	16.2282	0.82315	0.0:0.0:1.0:0.0	.	12;60;20;20;60	B4DND6;A8K070;Q13098-5;Q13098;Q13098-7	.;.;.;CSN1_HUMAN;.	N	60;88;20;60	.	ENSP00000302873:D20N	D	+	1	0	GPS1	77604463	1.000000	0.71417	0.919000	0.36401	0.872000	0.50106	8.619000	0.90938	2.085000	0.62840	0.563000	0.77884	GAC		0.662	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492		6	14	0	0	0	1	0	6	14				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			440993							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	51	0	0	0	1	0	4	51				
ZC2HC1A	51101	broad.mit.edu	37	8	79629684	79629684	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr8:79629684G>A	ENST00000263849.4	+	9	1036	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	IL7_ENST00000519833.1_5'Flank	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	312							metal ion binding (GO:0046872)										TGTAGAATGGGCCAAATTTTG	0.358																																						ENST00000263849.4																			0											c.(934-936)Gcc>Acc		zinc finger, C2HC-type containing 1A							149.0	151.0	150.0					8																	79629684		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79629684G>A		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.934G>A	8.37:g.79629684G>A	ENSP00000263849:p.Ala312Thr						p.A312T	NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN			9	1036	+			312					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.934G>A	CCDS6223.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.750688|4.750688	0.89753|0.89753	.|.	.|.	ENSG00000104427|ENSG00000104427	ENST00000263849|ENST00000519307	T|.	0.58652|.	0.32|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.047976|.	0.85682|.	D|.	0.000000|.	T|T	0.75925|0.75925	0.3916|0.3916	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.75230|0.75230	-0.3391|-0.3391	9|5	.|.	.|.	.|.	-18.263|-18.263	18.9518|18.9518	0.92643|0.92643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	312|.	Q96GY0|.	F164A_HUMAN|.	T|D	312|183	ENSP00000263849:A312T|.	.|.	A|G	+|+	1|2	0|0	FAM164A|FAM164A	79792239|79792239	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	7.373000|7.373000	0.79623|0.79623	2.548000|2.548000	0.85928|0.85928	0.591000|0.591000	0.81541|0.81541	GCC|GGC		0.358	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	NM_016010		4	134	0	0	0	1	0	4	134				
RPL27A	6157	broad.mit.edu	37	11	8705560	8705560	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr11:8705560C>A	ENST00000314138.6	+	3	478	c.75C>A	c.(73-75)caC>caA	p.H25Q	SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000530022.1_5'UTR|RPL27A_ENST00000526562.1_5'UTR|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000530913.1_5'Flank|RPL27A_ENST00000532359.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000531978.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000524496.1_5'UTR	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	25					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGGCAAGCACCGGAAGCACC	0.552																																						ENST00000314138.6																			0				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						c.(73-75)caC>caA		ribosomal protein L27a							81.0	82.0	82.0					11																	8705560		2201	4296	6497	SO:0001583	missense	6157				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome	g.chr11:8705560C>A	U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.75C>A	11.37:g.8705560C>A	ENSP00000346015:p.His25Gln					RPL27A_ENST00000531978.1_Missense_Mutation_p.H25Q|RPL27A_ENST00000530022.1_5'UTR|RPL27A_ENST00000526562.1_5'UTR|RPL27A_ENST00000524496.1_5'UTR|RPL27A_ENST00000532359.1_Missense_Mutation_p.H25Q	p.H25Q	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN		Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	3	478	+			25					B2R4B3	Missense_Mutation	SNP	ENST00000314138.6	37	c.75C>A	CCDS7790.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.978584|3.978584	0.74360|0.74360	.|.	.|.	ENSG00000166441|ENSG00000166441	ENST00000314138;ENST00000531978;ENST00000532359|ENST00000525981	.|.	.|.	.|.	5.6|5.6	4.69|4.69	0.59074|0.59074	Ribosomal protein L18e/L15P (2);|.	0.000000|.	0.85682|.	U|.	0.000000|.	D|D	0.87124|0.87124	0.6099|0.6099	H|H	0.96489|0.96489	3.83|3.83	0.80722|0.80722	D|D	1|1	P|.	0.46512|.	0.879|.	P|.	0.54889|.	0.763|.	D|D	0.91213|0.91213	0.5000|0.5000	9|5	0.87932|.	D|.	0|.	-1.1861|-1.1861	14.6508|14.6508	0.68794|0.68794	0.0:0.9292:0.0:0.0708|0.0:0.9292:0.0:0.0708	.|.	25|.	P46776|.	RL27A_HUMAN|.	Q|N	25|20	.|.	ENSP00000346015:H25Q|.	H|T	+|+	3|2	2|0	RPL27A|RPL27A	8662136|8662136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	5.553000|5.553000	0.67287|0.67287	1.498000|1.498000	0.48600|0.48600	-0.157000|-0.157000	0.13467|0.13467	CAC|ACC		0.552	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386506.1	NM_000990		15	98	1	0	9.16793e-09	1	1.0133e-08	15	98				
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C	rs200164543		TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	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	284802							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_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G	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	98	0	0	0	1	0	5	98				
H2AFX	3014	broad.mit.edu	37	11	118965944	118965944	+	Missense_Mutation	SNP	G	G	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr11:118965944G>A	ENST00000530167.1	-	1	233	c.161C>T	c.(160-162)gCa>gTa	p.A54V		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	54					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|nucleosome assembly (GO:0006334)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		CTCCAGCACTGCCGCCAGGTA	0.701								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000530167.1																			0				lung(3)	3						c.(160-162)gCa>gTa	Chromatin Structure	H2A histone family, member X							35.0	37.0	36.0					11																	118965944		2200	4292	6492	SO:0001583	missense	3014				DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding	g.chr11:118965944G>A	X14850	CCDS8410.1	11q23.3	2011-01-27						"""Histones / Replication-independent"""	4739	protein-coding gene	gene with protein product		601772		H2AX		8076949	Standard	NM_002105		Approved		uc001pvg.3	P16104		ENST00000530167.1:c.161C>T	11.37:g.118965944G>A	ENSP00000434024:p.Ala54Val		OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1492		p.A54V	NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)	1	233	-	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	54					Q4ZGJ7|Q6IAS5	Missense_Mutation	SNP	ENST00000530167.1	37	c.161C>T	CCDS8410.1	.	.	.	.	.	.	.	.	.	.	G	37	6.137873	0.97315	.	.	ENSG00000188486	ENST00000530167;ENST00000375167	T;T	0.71103	-0.54;-0.54	5.92	5.92	0.95590	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.64402	D	0.000010	D	0.89856	0.6836	H	0.99090	4.425	0.80722	D	1	D	0.89917	1.0	P	0.56514	0.8	D	0.93592	0.6922	10	0.72032	D	0.01	.	19.2987	0.94134	0.0:0.0:1.0:0.0	.	54	P16104	H2AX_HUMAN	V	54	ENSP00000434024:A54V;ENSP00000364310:A54V	ENSP00000364310:A54V	A	-	2	0	H2AFX	118471154	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.576000	0.98192	2.809000	0.96659	0.655000	0.94253	GCA		0.701	H2AFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388330.2	NM_002105		15	74	0	0	0	1	0	15	74				
TTN	7273	broad.mit.edu	37	2	179594164	179594164	+	Missense_Mutation	SNP	C	C	A			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr2:179594164C>A	ENST00000591111.1	-	62	17992	c.17768G>T	c.(17767-17769)cGa>cTa	p.R5923L	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R6240L|TTN_ENST00000342992.6_Missense_Mutation_p.R4996L|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12718	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCTGCTTCGAATTTCCCT	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18718-18720)cGa>cTa		titin							136.0	129.0	131.0					2																	179594164		1931	4129	6060	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594164C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17768G>T	2.37:g.179594164C>A	ENSP00000465570:p.Arg5923Leu					TTN_ENST00000591111.1_Missense_Mutation_p.R5923L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R4996L	p.R6240L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	18943	-			5923			Ig-like 43.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.18719G>T		.	.	.	.	.	.	.	.	.	.	C	12.79	2.042508	0.35989	.	.	ENSG00000155657	ENST00000342992	T	0.68331	-0.32	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62208	0.2409	L	0.46741	1.465	0.80722	D	1	P	0.44521	0.837	B	0.39660	0.306	T	0.67681	-0.5608	9	0.87932	D	0	.	15.9467	0.79799	0.143:0.857:0.0:0.0	.	5923	Q8WZ42	TITIN_HUMAN	L	4996	ENSP00000343764:R4996L	ENSP00000343764:R4996L	R	-	2	0	TTN	179302409	1.000000	0.71417	0.984000	0.44739	0.826000	0.46750	3.321000	0.51999	2.795000	0.96236	0.655000	0.94253	CGA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		27	61	1	0	1.50538e-07	1	1.58065e-07	27	61				
POLR3A	11128	broad.mit.edu	37	10	79769406	79769406	+	Missense_Mutation	SNP	T	T	C			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr10:79769406T>C	ENST00000372371.3	-	14	1935	c.1798A>G	c.(1798-1800)Atc>Gtc	p.I600V		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	600					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ACACTGAAGATCTGCTTTCCC	0.582																																						ENST00000372371.3																			0				breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1798-1800)Atc>Gtc		polymerase (RNA) III (DNA directed) polypeptide A, 155kDa							170.0	131.0	144.0					10																	79769406		2203	4300	6503	SO:0001583	missense	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79769406T>C	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1798A>G	10.37:g.79769406T>C	ENSP00000361446:p.Ile600Val						p.I600V	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		14	1935	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		600					Q8IW34|Q8TCW5	Missense_Mutation	SNP	ENST00000372371.3	37	c.1798A>G	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	T	6.078	0.382712	0.11524	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.68479	-0.33	5.72	4.6	0.57074	RNA polymerase Rpb1, domain 3 (1);	0.106949	0.64402	D	0.000004	T	0.43010	0.1228	N	0.17474	0.49	0.49389	D	0.999789	B	0.11235	0.004	B	0.18561	0.022	T	0.36529	-0.9744	9	.	.	.	-20.987	3.3043	0.06994	0.0:0.3343:0.0:0.6656	.	600	O14802	RPC1_HUMAN	V	600	ENSP00000361446:I600V	.	I	-	1	0	POLR3A	79439412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.181000	0.42547	2.184000	0.69523	0.533000	0.62120	ATC		0.582	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		27	52	0	0	0	1	0	27	52				
TNKS	8658	broad.mit.edu	37	8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A	rs370349163		TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		15309	0.001		0.0	False		,,,				2504	0.0					ENST00000310430.6																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3010-3012)Gta>Ata		tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase		G	ILE/VAL	0,4406		0,0,2203	78.0	82.0	81.0		3010	5.7	0.9	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	TNKS	NM_003747.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1004/1328	9609296	1,13005	2203	4300	6503	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9609296G>A	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3010G>A	8.37:g.9609296G>A	ENSP00000311579:p.Val1004Ile					TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	p.V1004I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	19	3036	+			1004					O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3010G>A	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	G	9.102	1.004279	0.19199	0.0	1.16E-4	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.61859	0.07;0.14	5.73	5.73	0.89815	.	0.331114	0.32055	N	0.006645	T	0.45034	0.1322	N	0.19112	0.55	0.54753	D	0.999982	B	0.16396	0.017	B	0.09377	0.004	T	0.29941	-0.9995	10	0.18276	T	0.48	.	19.9054	0.97006	0.0:0.0:1.0:0.0	.	1004	O95271	TNKS1_HUMAN	I	1004;767	ENSP00000311579:V1004I;ENSP00000429890:V767I	ENSP00000311579:V1004I	V	+	1	0	TNKS	9646706	1.000000	0.71417	0.901000	0.35422	0.191000	0.23601	6.449000	0.73473	2.698000	0.92095	0.655000	0.94253	GTA		0.542	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747		4	137	0	0	0	1	0	4	137				
ST6GAL1	6480	broad.mit.edu	37	3	186793532	186793532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr3:186793532G>T	ENST00000169298.3	+	8	1836	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*	ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.E388*|ST6GAL1_ENST00000457772.2_Nonsense_Mutation_p.E157*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	388					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGGCACAGATGAGGACATCTA	0.507																																						ENST00000169298.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1162-1164)Gag>Tag		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							89.0	88.0	88.0					3																	186793532		2203	4300	6503	SO:0001587	stop_gained	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186793532G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.1162G>T	3.37:g.186793532G>T	ENSP00000169298:p.Glu388*					ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.E388*|ST6GAL1_ENST00000457772.2_Nonsense_Mutation_p.E157*	p.E388*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	8	1836	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		388					A8KA14|B2R513|D3DNV3	Nonsense_Mutation	SNP	ENST00000169298.3	37	c.1162G>T	CCDS3285.1	.	.	.	.	.	.	.	.	.	.	G	42	9.386880	0.99156	.	.	ENSG00000073849	ENST00000169298;ENST00000457772;ENST00000448044	.	.	.	5.74	5.74	0.90152	.	0.196194	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-34.2584	11.1285	0.48333	0.0836:0.0:0.9164:0.0	.	.	.	.	X	388;157;388	.	ENSP00000169298:E388X	E	+	1	0	ST6GAL1	188276226	0.999000	0.42202	0.997000	0.53966	0.991000	0.79684	3.310000	0.51911	2.884000	0.98904	0.655000	0.94253	GAG		0.507	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	NM_173216		7	46	1	0	0.0293803	1	0.0293803	7	46				
SPG11	80208	broad.mit.edu	37	15	44955823	44955823	+	Missense_Mutation	SNP	G	G	C	rs200939573		TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr15:44955823G>C	ENST00000261866.7	-	1	39	c.23C>G	c.(22-24)gCg>gGg	p.A8G	SPG11_ENST00000427534.2_Missense_Mutation_p.A8G|SPG11_ENST00000559193.1_Missense_Mutation_p.A8G|SPG11_ENST00000535302.2_Missense_Mutation_p.A8G|SPG11_ENST00000558319.1_Missense_Mutation_p.A8G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	8					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCAGCACTCGCGACCCCTTC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		15637	0.001		0.0	False		,,,				2504	0.0					ENST00000261866.7																			0				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72						c.(22-24)gCg>gGg		spastic paraplegia 11 (autosomal recessive)							7.0	9.0	8.0					15																	44955823		2101	4178	6279	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44955823G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.23C>G	15.37:g.44955823G>C	ENSP00000261866:p.Ala8Gly					SPG11_ENST00000559193.1_Missense_Mutation_p.A8G|SPG11_ENST00000558319.1_Missense_Mutation_p.A8G|SPG11_ENST00000535302.2_Missense_Mutation_p.A8G|SPG11_ENST00000427534.2_Missense_Mutation_p.A8G	p.A8G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	1	39	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	8					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.23C>G	CCDS10112.1	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	3.883	-0.025632	0.07589	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.75367	-0.93;-0.66;-0.68	5.53	1.56	0.23342	.	0.934142	0.08960	N	0.868891	T	0.37972	0.1023	N	0.00583	-1.355	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.24476	-1.0159	10	0.02654	T	1	.	10.4812	0.44695	0.1412:0.4428:0.416:0.0	.	8;8;8;8	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	G	8	ENSP00000261866:A8G;ENSP00000445278:A8G;ENSP00000396110:A8G	ENSP00000261866:A8G	A	-	2	0	SPG11	42743115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.012000	0.13287	0.046000	0.15833	-2.042000	0.00416	GCG		0.687	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			6	12	0	0	0	1	0	6	12				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		4	45	0	0	0	1	0	4	45				
DMWD	1762	broad.mit.edu	37	19	46290019	46290019	+	Missense_Mutation	SNP	G	G	C			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr19:46290019G>C	ENST00000270223.6	-	3	780	c.735C>G	c.(733-735)caC>caG	p.H245Q	DMWD_ENST00000601370.1_5'Flank|AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000377735.3_Missense_Mutation_p.H245Q	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	245										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		AGGCGCAGGGGTGGCTGACGT	0.627																																						ENST00000270223.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(733-735)caC>caG		dystrophia myotonica, WD repeat containing							42.0	40.0	41.0					19																	46290019		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46290019G>C	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.735C>G	19.37:g.46290019G>C	ENSP00000270223:p.His245Gln					DMWD_ENST00000377735.3_Missense_Mutation_p.H245Q	p.H245Q	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	780	-		Ovarian(192;0.0308)|all_neural(266;0.112)	245						Missense_Mutation	SNP	ENST00000270223.6	37	c.735C>G	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	G	3.485	-0.105138	0.06967	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.27256	1.68;1.68	4.21	3.17	0.36434	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.22704	0.0548	L	0.57536	1.79	0.34664	D	0.722965	P;P	0.42518	0.782;0.675	B;B	0.42882	0.401;0.226	T	0.21518	-1.0243	10	0.12430	T	0.62	-33.6381	6.6265	0.22833	0.2136:0.0:0.7864:0.0	.	245;245	G5E9A7;Q09019	.;DMWD_HUMAN	Q	245	ENSP00000366964:H245Q;ENSP00000270223:H245Q	ENSP00000270223:H245Q	H	-	3	2	DMWD	50981859	1.000000	0.71417	0.991000	0.47740	0.147000	0.21601	2.226000	0.42963	1.156000	0.42514	0.514000	0.50259	CAC		0.627	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1	NM_004943		10	61	0	0	0	1	0	10	61				
CTC-431G16.2	0	broad.mit.edu	37	5	79107198	79107198	+	RNA	DEL	G	G	-			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr5:79107198delG	ENST00000421252.2	-	0	71																											AAATGTCTTTGGGGGGGAACT	0.552																																						ENST00000421252.2																			0																																																			0							g.chr5:79107198delG																													5.37:g.79107198delG														0	71	-									RNA	DEL	ENST00000421252.2	37																																																																																						0.552	CTC-431G16.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000369922.1			2	4						2	4	---	---	---	---
GTF2IRD1P1	729156	broad.mit.edu	37	7	66304731	66304731	+	RNA	DEL	T	T	-			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr7:66304731delT	ENST00000457166.1	-	0	189					NR_003934.1				GTF2I repeat domain containing 1 pseusogene 1																		TTTCTTTCCCttttttttttt	0.512																																						ENST00000457166.1																			0																																																			729156							g.chr7:66304731delT			7q11.21	2012-06-29			ENSG00000230583	ENSG00000230583			44136	pseudogene	pseudogene							Standard	NR_003934		Approved		uc003tvj.1		OTTHUMG00000156927		7.37:g.66304731delT								NR_003934.1						0	189	-									RNA	DEL	ENST00000457166.1	37																																																																																						0.512	GTF2IRD1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346561.1	NR_003934		2	4						2	4	---	---	---	---
POR	5447	broad.mit.edu	37	7	75618546	75618546	+	IGR	DEL	G	G	-			TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr7:75618546delG	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	GTACAATCTAGGGAAGGGGGT	0.647																																						ENST00000493111.2																			0													transmembrane protein 120A							21.0	24.0	23.0					7																	75618546		1972	4129	6101	SO:0001628	intergenic_variant	83862					integral to membrane		g.chr7:75618546delG	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75618546delG						TMEM120A_ENST00000338761.4_RNA				Q9BXJ8	T120A_HUMAN			0	317	-								Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	DEL	ENST00000461988.1	37		CCDS5579.1																																																																																				0.647	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941		2	4						2	4	---	---	---	---
WDR81	124997	broad.mit.edu	37	17	1631341	1631343	+	In_Frame_Del	DEL	GAG	GAG	-	rs577690948|rs200758098|rs35048651	byFrequency	TCGA-SR-A6MR-01A-11D-A35I-08	TCGA-SR-A6MR-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488efb24-a310-458d-ad35-4f1d2327cb7e	adc91270-684e-495b-90c5-0496f03134b8	g.chr17:1631341_1631343delGAG	ENST00000409644.1	+	1	3088_3090	c.3088_3090delGAG	c.(3088-3090)gagdel	p.E1033del	WDR81_ENST00000419248.1_Intron|WDR81_ENST00000545662.1_5'Flank|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1033				Missing (in Ref. 1; BAB84937). {ECO:0000305}.	negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGGGCTGCTGAGGAGGAGGAGA	0.695														1061	0.211861	0.115	0.196	5008	,	,		16982	0.1835		0.1948	False		,,,				2504	0.4008					ENST00000409644.1																			0				cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16						c.(3088-3090)del		WD repeat domain 81			,,,	549,3367		98,353,1507					,,,	-11.3	0.0		dbSNP_130	17	1642,6232		262,1118,2557	no	utr-5,intron,coding,intron	WDR81	NM_152348.3,NM_001163811.1,NM_001163809.1,NM_001163673.1	,,,	360,1471,4064	A1A1,A1R,RR		20.8534,14.0194,18.5835	,,,	,,,		2191,9599				SO:0001651	inframe_deletion	124997							g.chr17:1631341_1631343delGAG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3088_3090delGAG	17.37:g.1631350_1631352delGAG	ENSP00000386609:p.Glu1033del					WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_5'UTR	p.E1033del	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	1	3088_3090	+			305					B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	In_Frame_Del	DEL	ENST00000409644.1	37	c.3088_3090delGAG	CCDS54062.1																																																																																				0.695	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348		3	5						3	5	---	---	---	---
