#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
AVP	551	broad.mit.edu	37	20	3065235	3065235	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr20:3065235C>T	ENST00000380293.3	-	1	135	c.86G>A	c.(85-87)gGc>gAc	p.G29D		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	29					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GGCCCTCTTGCCGCCCCTCGG	0.652																																						ENST00000380293.3																			0				central_nervous_system(1)|prostate(1)|skin(1)	3						c.(85-87)gGc>gAc		arginine vasopressin							117.0	109.0	111.0					20																	3065235		2203	4300	6503	SO:0001583	missense	551				cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding	g.chr20:3065235C>T	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"""Endogenous ligands"""	894	protein-coding gene	gene with protein product	"""antidiuretic hormone"", ""neurophysin II"", ""diabetes insipidus"", ""neurohypophyseal"", ""prepro-AVP-NP II"", ""prepro-arginine-vasopressin-neurophysin II"""	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.86G>A	20.37:g.3065235C>T	ENSP00000369647:p.Gly29Asp						p.G29D	NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	1	135	-			29					A0AV35|O14935	Missense_Mutation	SNP	ENST00000380293.3	37	c.86G>A	CCDS13045.1	.	.	.	.	.	.	.	.	.	.	C	36	5.601157	0.96614	.	.	ENSG00000101200	ENST00000380293	D	0.99167	-5.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99441	0.9802	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98766	1.0726	10	0.87932	D	0	.	19.3138	0.94204	0.0:1.0:0.0:0.0	.	29	P01185	NEU2_HUMAN	D	29	ENSP00000369647:G29D	ENSP00000369647:G29D	G	-	2	0	AVP	3013235	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.571000	0.82399	2.561000	0.86390	0.655000	0.94253	GGC		0.652	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		4	180	0	0	0	1	0	4	180				
CNGB3	54714	broad.mit.edu	37	8	87679266	87679266	+	Missense_Mutation	SNP	C	C	T	rs150490913		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr8:87679266C>T	ENST00000320005.5	-	6	786	c.739G>A	c.(739-741)Gca>Aca	p.A247T		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	247					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATGTTGTCTGCGGTTTGATAT	0.443																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(739-741)Gca>Aca		cyclic nucleotide gated channel beta 3		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122.0	110.0	114.0		739	3.7	0.9	8	dbSNP_134	114	0,8600		0,0,4300	no	missense	CNGB3	NM_019098.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	247/810	87679266	1,13005	2203	4300	6503	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87679266C>T	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.739G>A	8.37:g.87679266C>T	ENSP00000316605:p.Ala247Thr						p.A247T	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			6	786	-			247					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.739G>A	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610396	0.28712	2.27E-4	0.0	ENSG00000170289	ENST00000320005	T	0.12569	2.67	5.54	3.71	0.42584	.	0.120536	0.56097	D	0.000028	T	0.09598	0.0236	N	0.12182	0.205	0.27119	N	0.96219	B;B	0.14438	0.01;0.006	B;B	0.14023	0.01;0.004	T	0.15780	-1.0425	10	0.49607	T	0.09	.	16.1249	0.81386	0.0:0.3815:0.6185:0.0	.	247;247	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	T	247	ENSP00000316605:A247T	ENSP00000316605:A247T	A	-	1	0	CNGB3	87748382	0.555000	0.26530	0.915000	0.36163	0.051000	0.14879	0.781000	0.26774	0.679000	0.31345	-0.139000	0.14373	GCA		0.443	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		3	28	0	0	0	1	0	3	28				
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	lincRNA	SNP	G	G	A	rs28392876	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCCTTCCGCCGGGCCAGCAGC	0.672																																						ENST00000412962.1																			0																																																			84809							g.chr1:16946438G>A	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946438G>A														0	1081	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	21	0	0	0	1	0	3	21				
ADH1B	125	broad.mit.edu	37	4	100234996	100234996	+	Silent	SNP	G	G	A			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100234996G>A	ENST00000305046.8	-	6	877	c.810C>T	c.(808-810)atC>atT	p.I270I	ADH1B_ENST00000394887.3_Silent_p.I230I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	270					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CAAGCCGACCGATGACTTCAA	0.438																																						ENST00000305046.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33						c.(808-810)atC>atT		alcohol dehydrogenase 1B (class I), beta polypeptide	Fomepizole(DB01213)|NADH(DB00157)						210.0	211.0	210.0					4																	100234996		2203	4300	6503	SO:0001819	synonymous_variant	125				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	g.chr4:100234996G>A	AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.810C>T	4.37:g.100234996G>A						ADH1B_ENST00000394887.3_Silent_p.I230I	p.I270I			P00325	ADH1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	6	877	-			270					A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	c.810C>T	CCDS34033.1																																																																																				0.438	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668		5	196	0	0	0	1	0	5	196				
PCLO	27445	broad.mit.edu	37	7	82580363	82580363	+	Missense_Mutation	SNP	C	C	G			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr7:82580363C>G	ENST00000333891.9	-	6	9878	c.9541G>C	c.(9541-9543)Gtt>Ctt	p.V3181L	PCLO_ENST00000423517.2_Missense_Mutation_p.V3181L|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAAGTGGGAACAGAGTCTATC	0.433																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(9541-9543)Gtt>Ctt		piccolo presynaptic cytomatrix protein							52.0	49.0	50.0					7																	82580363		1925	4155	6080	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580363C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9541G>C	7.37:g.82580363C>G	ENSP00000334319:p.Val3181Leu					PCLO_ENST00000333891.8_Missense_Mutation_p.V3181L	p.V3181L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			6	9878	-			3112			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9541G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	7.870	0.727851	0.15507	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.37;2.37	5.57	3.47	0.39725	.	.	.	.	.	T	0.10594	0.0259	N	0.21373	0.66	0.80722	D	1	B;B;B	0.10296	0.001;0.003;0.003	B;B;B	0.09377	0.003;0.003;0.004	T	0.10245	-1.0638	9	0.87932	D	0	.	5.0744	0.14622	0.0:0.6085:0.226:0.1655	.	3112;3181;3181	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	L	3112;3181;3181	ENSP00000334319:V3181L;ENSP00000388393:V3181L	ENSP00000334319:V3181L	V	-	1	0	PCLO	82418299	0.928000	0.31464	0.996000	0.52242	0.896000	0.52359	2.243000	0.43115	1.321000	0.45227	0.467000	0.42956	GTT		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		7	23	0	0	0	1	0	7	23				
PKNOX2	63876	broad.mit.edu	37	11	125301206	125301206	+	Missense_Mutation	SNP	A	A	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr11:125301206A>T	ENST00000298282.9	+	13	1608	c.1337A>T	c.(1336-1338)gAg>gTg	p.E446V	PKNOX2_ENST00000542175.1_Missense_Mutation_p.E382V|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	446	Asp/Glu-rich (acidic).				regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		gaggaggaggaggagctggag	0.582																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(1336-1338)gAg>gTg		PBX/knotted 1 homeobox 2							50.0	56.0	54.0					11																	125301206		2182	4264	6446	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125301206A>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.1337A>T	11.37:g.125301206A>T	ENSP00000298282:p.Glu446Val					PKNOX2_ENST00000542175.1_Missense_Mutation_p.E382V|PKNOX2_ENST00000530517.1_3'UTR	p.E446V	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	13	1608	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	446			Asp/Glu-rich (acidic).		B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.1337A>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009470	0.35415	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.01	4.56	4.56	0.56223	.	0.066868	0.64402	D	0.000014	T	0.71108	0.3301	N	0.08118	0	0.48511	D	0.999665	B;B;B	0.33694	0.13;0.421;0.079	B;B;B	0.30029	0.037;0.11;0.017	T	0.75496	-0.3297	10	0.62326	D	0.03	-16.2343	14.0378	0.64656	1.0:0.0:0.0:0.0	.	382;417;446	F5GZ15;B7Z3G7;Q96KN3	.;.;PKNX2_HUMAN	V	417;417;446;382	ENSP00000434732:E417V;ENSP00000433971:E417V;ENSP00000298282:E446V;ENSP00000441470:E382V	ENSP00000298282:E446V	E	+	2	0	PKNOX2	124806416	0.998000	0.40836	1.000000	0.80357	0.672000	0.39443	3.279000	0.51670	2.037000	0.60232	0.533000	0.62120	GAG		0.582	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			3	20	0	0	0	1	0	3	20				
GATB	5188	broad.mit.edu	37	4	152682119	152682119	+	Silent	SNP	G	G	A	rs553313362	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:152682119G>A	ENST00000515812.1	-	1	32	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	PET112_ENST00000512306.1_Silent_p.L6L|PET112_ENST00000508611.1_Silent_p.L6L|PET112_ENST00000263985.6_Silent_p.L6L																breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						CCCCAGCGCAGCATGGGCGCC	0.602																																						ENST00000263985.6																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23						c.(16-18)Ctg>Ttg		PET112 homolog (yeast)	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						20.0	25.0	23.0					4																	152682119		2199	4296	6495	SO:0001819	synonymous_variant	5188					mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding	g.chr4:152682119G>A																												ENST00000515812.1:c.16C>T	4.37:g.152682119G>A						PET112_ENST00000508611.1_Silent_p.L6L|PET112_ENST00000512306.1_Silent_p.L6L|PET112_ENST00000515812.1_Silent_p.L6L	p.L6L	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN			1	56	-			6						Silent	SNP	ENST00000515812.1	37	c.16C>T																																																																																					0.602	PET112-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365672.1			6	43	0	0	0	1	0	6	43				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	206	0	0	0	1	0	5	206				
WEE2	494551	broad.mit.edu	37	7	141414151	141414151	+	Missense_Mutation	SNP	C	C	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr7:141414151C>T	ENST00000397541.2	+	2	891	c.485C>T	c.(484-486)tCc>tTc	p.S162F	WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	162					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ACTCCAGAGTCCTATAAAAAA	0.423																																						ENST00000397541.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(484-486)tCc>tTc		WEE1 homolog 2 (S. pombe)							67.0	64.0	65.0					7																	141414151		1831	4093	5924	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141414151C>T	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.485C>T	7.37:g.141414151C>T	ENSP00000380675:p.Ser162Phe					WEE2-AS1_ENST00000488785.1_RNA	p.S162F	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN			2	891	+	Melanoma(164;0.0171)		162						Missense_Mutation	SNP	ENST00000397541.2	37	c.485C>T	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349046	0.82132	.	.	ENSG00000214102	ENST00000397541	T	0.42900	0.96	4.92	4.92	0.64577	.	0.176579	0.37669	U	0.001988	T	0.63177	0.2489	M	0.74881	2.28	0.47009	D	0.999283	D	0.65815	0.995	P	0.60886	0.88	T	0.68224	-0.5465	10	0.87932	D	0	.	18.3024	0.90168	0.0:1.0:0.0:0.0	.	162	P0C1S8	WEE2_HUMAN	F	162	ENSP00000380675:S162F	ENSP00000380675:S162F	S	+	2	0	WEE2	141060620	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	4.703000	0.61824	2.550000	0.86006	0.585000	0.79938	TCC		0.423	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558		4	174	0	0	0	1	0	4	174				
MUC16	94025	broad.mit.edu	37	19	9069495	9069495	+	Missense_Mutation	SNP	G	G	T			TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr19:9069495G>T	ENST00000397910.4	-	3	18154	c.17951C>A	c.(17950-17952)cCa>cAa	p.P5984Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5986	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTGCACTTGGTAAGGAGCT	0.483																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(17950-17952)cCa>cAa		mucin 16, cell surface associated							150.0	145.0	146.0					19																	9069495		1954	4144	6098	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9069495G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.17951C>A	19.37:g.9069495G>T	ENSP00000381008:p.Pro5984Gln						p.P5984Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	18154	-			5986			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.17951C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	2.162	-0.392048	0.04932	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	0.9	-0.489	0.12052	.	.	.	.	.	T	0.11452	0.0279	N	0.19112	0.55	.	.	.	P	0.46020	0.871	B	0.34824	0.19	T	0.18777	-1.0326	8	0.87932	D	0	.	3.58	0.07949	0.305:0.0:0.695:0.0	.	5984	B5ME49	.	Q	5984	ENSP00000381008:P5984Q	ENSP00000381008:P5984Q	P	-	2	0	MUC16	8930495	0.001000	0.12720	0.000000	0.03702	0.167000	0.22549	-0.068000	0.11561	-0.071000	0.12886	0.281000	0.19383	CCA		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		45	75	1	0	4.44401e-20	1	4.6909e-20	45	75				
ADH6	130	broad.mit.edu	37	4	100126143	100126143	+	Missense_Mutation	SNP	T	T	G	rs541657822	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100126143T>G	ENST00000237653.7	-	8	1426	c.1042A>C	c.(1042-1044)Act>Cct	p.T348P	ADH6_ENST00000394899.2_Missense_Mutation_p.T348P|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139P|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	348					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	AGAGTATGAGTAATTAGTGGA	0.358																																						ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(1042-1044)Act>Cct		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						142.0	136.0	138.0					4																	100126143		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100126143T>G	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.1042A>C	4.37:g.100126143T>G	ENSP00000237653:p.Thr348Pro					RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139P|ADH6_ENST00000237653.7_Missense_Mutation_p.T348P	p.T348P	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	8	1135	-			348					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.1042A>C	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.383976	0.61845	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653	T;T;T	0.12039	2.72;2.72;2.72	3.79	3.79	0.43588	.	0.055570	0.64402	D	0.000001	T	0.50171	0.1600	H	0.97051	3.93	0.80722	D	1	D;D;D	0.89917	0.995;0.999;1.0	D;D;D	0.87578	0.978;0.993;0.998	T	0.67364	-0.5689	10	0.87932	D	0	-34.6002	12.8095	0.57631	0.0:0.0:0.0:1.0	.	225;348;348	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	P	348;139;348	ENSP00000378359:T348P;ENSP00000384997:T139P;ENSP00000237653:T348P	ENSP00000237653:T348P	T	-	1	0	ADH6	100345166	1.000000	0.71417	0.022000	0.16811	0.003000	0.03518	7.026000	0.76455	1.458000	0.47871	0.445000	0.29226	ACT		0.358	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		33	67	0	0	0	1	0	33	67				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			2679							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	29	0	0	0	1	0	4	29				
TRIM3	10612	broad.mit.edu	37	11	6478231	6478231	+	Missense_Mutation	SNP	C	C	T	rs145197784		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr11:6478231C>T	ENST00000525074.1	-	6	1119	c.725G>A	c.(724-726)cGc>cAc	p.R242H	TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.R242H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R123H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R242H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	242					nervous system development (GO:0007399)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)	protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGACCCTGGCGCAGTGTGTC	0.607																																					Melanoma(6;5 510 1540 25169 29084)	ENST00000525074.1																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27						c.(724-726)cGc>cAc		tripartite motif containing 3		C	HIS/ARG,HIS/ARG	0,4402		0,0,2201	56.0	60.0	58.0		725,725	4.2	1.0	11	dbSNP_134	58	1,8591	1.2+/-3.3	0,1,4295	no	missense,missense	TRIM3	NM_006458.2,NM_033278.2	29,29	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	242/745,242/745	6478231	1,12993	2201	4296	6497	SO:0001583	missense	10612				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	g.chr11:6478231C>T	AF045239	CCDS7764.1, CCDS58115.1	11p15.5	2013-01-09	2011-01-25	2001-11-23	ENSG00000110171	ENSG00000110171		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10064	protein-coding gene	gene with protein product	"""ring finger protein 22"", ""brain expressed ring finger"", ""tripartite motif protein TRIM3"""	605493	"""tripartite motif-containing 3"""	RNF22		10391919	Standard	NM_006458		Approved	HAC1, BERP, RNF97	uc009yfd.3	O75382	OTTHUMG00000133405	ENST00000525074.1:c.725G>A	11.37:g.6478231C>T	ENSP00000433102:p.Arg242His					TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000345851.3_Missense_Mutation_p.R242H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R123H|TRIM3_ENST00000359518.3_Missense_Mutation_p.R242H|TRIM3_ENST00000529058.1_5'UTR	p.R242H	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)	6	1119	-		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)	242					B7Z5E6|F5H2Q8|Q4V9L4|Q9C038|Q9C039	Missense_Mutation	SNP	ENST00000525074.1	37	c.725G>A	CCDS7764.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754983	0.31046	0.0	1.16E-4	ENSG00000110171	ENST00000530899;ENST00000525074;ENST00000545029;ENST00000345851;ENST00000336043;ENST00000359518;ENST00000536344;ENST00000528227	T;T;T;D;T	0.83419	-0.64;-0.64;-0.64;-1.72;0.97	5.08	4.16	0.48862	B-box, C-terminal (1);	0.314680	0.35151	N	0.003413	T	0.68513	0.3009	N	0.14661	0.345	0.33841	D	0.631427	B;B;B	0.26318	0.008;0.146;0.017	B;B;B	0.15052	0.005;0.007;0.012	T	0.72414	-0.4301	10	0.49607	T	0.09	-18.4653	11.6717	0.51406	0.3216:0.6784:0.0:0.0	.	123;123;242	F5H2Q8;D3DQT4;O75382	.;.;TRIM3_HUMAN	H	242;242;242;242;231;242;123;242	ENSP00000433102:R242H;ENSP00000340797:R242H;ENSP00000352508:R242H;ENSP00000445460:R123H;ENSP00000433070:R242H	ENSP00000337094:R231H	R	-	2	0	TRIM3	6434807	0.548000	0.26473	0.999000	0.59377	0.985000	0.73830	1.225000	0.32551	1.106000	0.41623	0.563000	0.77884	CGC		0.607	TRIM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384224.2	NM_006458		4	44	0	0	0	1	0	4	44				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			84809							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	21	0	0	0	1	0	3	21				
ADH6	130	broad.mit.edu	37	4	100126142	100126142	+	Missense_Mutation	SNP	G	G	A	rs541657822	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr4:100126142G>A	ENST00000237653.7	-	8	1427	c.1043C>T	c.(1042-1044)aCt>aTt	p.T348I	ADH6_ENST00000394899.2_Missense_Mutation_p.T348I|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139I|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	348					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CAGAGTATGAGTAATTAGTGG	0.358																																						ENST00000394899.2																			0				breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20						c.(1042-1044)aCt>aTt		alcohol dehydrogenase 6 (class V)	Abacavir(DB01048)|NADH(DB00157)						141.0	135.0	137.0					4																	100126142		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100126142G>A	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.1043C>T	4.37:g.100126142G>A	ENSP00000237653:p.Thr348Ile					RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394897.1_3'UTR|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Missense_Mutation_p.T139I|ADH6_ENST00000237653.7_Missense_Mutation_p.T348I	p.T348I	NM_001102470.1	NP_001095940.1	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	8	1136	-			348					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.1043C>T	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646603	0.67358	.	.	ENSG00000172955	ENST00000394899;ENST00000407820;ENST00000237653	T;T;T	0.12039	2.72;2.72;2.72	3.79	3.79	0.43588	.	0.055570	0.64402	D	0.000001	T	0.52008	0.1708	H	0.97051	3.93	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.986;0.995;0.999	T	0.72609	-0.4241	10	0.87932	D	0	-34.6002	15.9862	0.80155	0.0:0.0:1.0:0.0	.	225;348;348	B4DPD8;P28332;P28332-2	.;ADH6_HUMAN;.	I	348;139;348	ENSP00000378359:T348I;ENSP00000384997:T139I;ENSP00000237653:T348I	ENSP00000237653:T348I	T	-	2	0	ADH6	100345165	1.000000	0.71417	0.025000	0.17156	0.003000	0.03518	3.130000	0.50508	1.788000	0.52465	0.544000	0.68410	ACT		0.358	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672		29	69	0	0	0	1	0	29	69				
KIAA1217	56243	broad.mit.edu	37	10	24762772	24762772	+	Missense_Mutation	SNP	G	G	A	rs147538283		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr10:24762772G>A	ENST00000376454.3	+	6	1492	c.1462G>A	c.(1462-1464)Gct>Act	p.A488T	KIAA1217_ENST00000430453.2_Missense_Mutation_p.A409T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A488T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A206T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A408T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A206T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	488					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGACATGCACGCTCACTATAA	0.557																																						ENST00000376451.2																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(616-618)Gct>Act		KIAA1217		G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	103.0	89.0	94.0		1222,1462,1462	3.8	0.0	10	dbSNP_134	94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	408/1265,488/1310,488/1944	24762772	2,13004	2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762772G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1462G>A	10.37:g.24762772G>A	ENSP00000365637:p.Ala488Thr					KIAA1217_ENST00000396445.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A488T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A206T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A409T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A408T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A488T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A206T	p.A206T			Q5T5P2	SKT_HUMAN			2	876	+			488					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.616G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	4.364	0.067145	0.08388	2.27E-4	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.65	3.77	0.43336	.	0.691975	0.15043	N	0.283730	T	0.41650	0.1168	L	0.40543	1.245	0.09310	N	1	B;B;B;B;P;B;D;B	0.54047	0.17;0.022;0.17;0.046;0.514;0.17;0.964;0.068	B;B;B;B;B;B;P;B	0.45681	0.03;0.013;0.03;0.03;0.045;0.045;0.49;0.007	T	0.14117	-1.0484	10	0.22109	T	0.4	.	11.5658	0.50805	0.0857:0.5139:0.4004:0.0	.	488;488;206;206;206;206;488;488	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	408;488;488;206;488;488;338;409;206;206;206;206;206	ENSP00000365645:A408T;ENSP00000365639:A488T;ENSP00000392625:A488T;ENSP00000365637:A488T;ENSP00000365635:A488T;ENSP00000404798:A338T;ENSP00000389680:A409T;ENSP00000302343:A206T;ENSP00000379722:A206T;ENSP00000365634:A206T;ENSP00000379723:A206T	ENSP00000302343:A206T	A	+	1	0	KIAA1217	24802778	0.706000	0.27856	0.008000	0.14137	0.026000	0.11368	1.046000	0.30354	0.658000	0.30925	0.655000	0.94253	GCT		0.557	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		29	57	0	0	0	1	0	29	57				
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	lincRNA	DEL	AAC	AAC	-	rs140309984|rs145869340		TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345																																						ENST00000423385.1																			0																																																			0							g.chr1:142803276_142803278delAAC																													1.37:g.142803285_142803287delAAC														0	1687_1689	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.345	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	9						5	9	---	---	---	---
LOC153910	153910	broad.mit.edu	37	6	142860298	142860299	+	lincRNA	INS	-	-	T	rs143051118	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.47													|||unknown(HR)	546	0.109026	0.0416	0.1369	5008	,	,		19829	0.2173		0.1064	False		,,,				2504	0.0716					ENST00000447311.1																			0																																																			153910							g.chr6:142860298_142860299insT																													6.37:g.142860308_142860308dupT								NR_027312.1						0	364	-									RNA	INS	ENST00000447311.1	37																																																																																						0.470	RP11-440G9.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000042494.1			2	4						2	4	---	---	---	---
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs3059425|rs202062346|rs67043646	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)ctg>ctTCTg	p.143_143L>LL		NM_001199938.1	NP_001186867.1	P0CF75	EBLN1_HUMAN	endogenous Bornavirus-like nucleoprotein 1	143																	CAATGCCTATCAGATCACAGCA	0.455														1648	0.329073	0.6135	0.3184	5008	,	,		21634	0.2192		0.2535	False		,,,				2504	0.1431					ENST00000422359.2																			0											c.(427-429)cat>cTCTat		endogenous Bornavirus-like nucleoprotein 1																																				SO:0001652	inframe_insertion	340900							g.chr10:22498484_22498485insAGA	AA813437	CCDS60498.1	10p12.31	2013-01-30			ENSG00000223601	ENSG00000223601			39430	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 1"""	613249				20054395, 20686665	Standard	NM_001199938		Approved		uc021pob.1	P0CF75	OTTHUMG00000017801	ENST00000422359.2:c.426_428dupTCT	10.37:g.22498485_22498487dupAGA	ENSP00000473842:p.Leu143dup						p.143_143H>LY	NM_001199938.1	NP_001186867.1					1	465_466	-								S4R316	In_Frame_Ins	INS	ENST00000422359.2	37	c.428_429insTCT																																																																																					0.455	EBLN1-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047154.3	NM_001199938		6	4						6	4	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-S7-A7X1-01A-11D-A35I-08	TCGA-S7-A7X1-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25859f3e-0562-41a7-a001-0aecb18582e8	1c13a14a-b7b7-46ff-ba7f-44ced8faa80b	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			103504731							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				4	3						4	3	---	---	---	---
