#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
RERE	473	broad.mit.edu	37	1	8716118	8716118	+	Missense_Mutation	SNP	G	G	A	rs139888880	byFrequency	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:8716118G>A	ENST00000337907.3	-	3	873	c.239C>T	c.(238-240)cCg>cTg	p.P80L	RERE_ENST00000400908.2_Missense_Mutation_p.P80L|RERE_ENST00000400907.2_Missense_Mutation_p.P80L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	80					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P80Q(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTTTTTTTCGGTGGTTTCTT	0.443																																						ENST00000337907.3																			1	Substitution - Missense(1)	p.P80Q(1)	lung(1)	central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(238-240)cCg>cTg		arginine-glutamic acid dipeptide (RE) repeats		G	LEU/PRO,LEU/PRO	6,4400	11.4+/-27.6	0,6,2197	316.0	292.0	300.0		239,239	5.4	1.0	1	dbSNP_134	300	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	RERE	NM_001042681.1,NM_012102.3	98,98	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging,probably-damaging	80/1567,80/1567	8716118	7,12999	2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716118G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.239C>T	1.37:g.8716118G>A	ENSP00000338629:p.Pro80Leu					RERE_ENST00000400907.2_Missense_Mutation_p.P80L|RERE_ENST00000400908.2_Missense_Mutation_p.P80L	p.P80L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	873	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	80					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.239C>T	CCDS95.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201467	0.79015	0.001362	1.16E-4	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	T;T	0.46451	0.87;0.87	5.45	5.45	0.79879	.	.	.	.	.	T	0.51449	0.1675	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45425	-0.9262	9	0.29301	T	0.29	-17.9739	18.2804	0.90096	0.0:0.0:1.0:0.0	.	80	Q9P2R6	RERE_HUMAN	L	80	ENSP00000338629:P80L;ENSP00000383700:P80L	ENSP00000338629:P80L	P	-	2	0	RERE	8638705	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.452000	0.80683	2.553000	0.86117	0.557000	0.71058	CCG		0.443	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	255	0	0	0	1	0	17	255				
PTCHD2	57540	broad.mit.edu	37	1	11562110	11562110	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:11562110A>G	ENST00000294484.6	+	2	1199	c.1061A>G	c.(1060-1062)tAt>tGt	p.Y354C	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y354C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	354					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AAGATCTACTATGACGGCATG	0.607																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1060-1062)tAt>tGt		patched domain containing 2							32.0	35.0	34.0					1																	11562110		1904	4113	6017	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562110A>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1061A>G	1.37:g.11562110A>G	ENSP00000294484:p.Tyr354Cys					PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y354C	p.Y354C	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	1199	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	354					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1061A>G	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.280037	0.59758	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.28666	1.6;1.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	N	0.24115	0.695	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	T	0.39840	-0.9594	10	0.59425	D	0.04	-14.6375	14.4989	0.67707	1.0:0.0:0.0:0.0	.	354	Q9P2K9	PTHD2_HUMAN	C	354	ENSP00000294484:Y354C;ENSP00000374226:Y354C	ENSP00000294484:Y354C	Y	+	2	0	PTCHD2	11484697	1.000000	0.71417	0.902000	0.35471	0.765000	0.43378	5.598000	0.67585	2.020000	0.59435	0.533000	0.62120	TAT		0.607	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		18	21	0	0	0	1	0	18	21				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	C	rs121913233		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:533874T>C	ENST00000451590.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cGg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>C	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>G	11.37:g.533874T>C	ENSP00000407586:p.Gln61Arg	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>G	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	14.48	2.546606	0.45383	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85613	0.5737	M	0.90870	3.155	0.80722	D	1	B;B	0.21071	0.051;0.008	B;B	0.22152	0.022;0.038	D	0.85970	0.1476	10	0.66056	D	0.02	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	R	61	ENSP00000380722:Q61R;ENSP00000380723:Q61R;ENSP00000407586:Q61R;ENSP00000388246:Q61R;ENSP00000309845:Q61R	ENSP00000309845:Q61R	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		29	48	0	0	0	1	0	29	48				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	0							g.chr20:29625934C>T			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.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	78	0	0	0	1	0	7	78				
CROCC	9696	broad.mit.edu	37	1	17272075	17272075	+	Missense_Mutation	SNP	G	G	A	rs2781608		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:17272075G>A	ENST00000375541.5	+	15	2179	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin									p.A704T(11)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCGAGAAGGCCGAGGTGGC	0.657																																						ENST00000375541.5																			11	Substitution - Missense(11)	p.A704T(11)	kidney(7)|endometrium(1)|prostate(1)|lung(1)|central_nervous_system(1)	breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62						c.(2110-2112)Gcc>Acc		ciliary rootlet coiled-coil, rootletin							20.0	18.0	19.0					1																	17272075		2199	4291	6490	SO:0001583	missense	9696				cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	g.chr1:17272075G>A	AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2110G>A	1.37:g.17272075G>A	ENSP00000364691:p.Ala704Thr					CROCC_ENST00000467938.1_3'UTR	p.A704T	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)	15	2179	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)	704						Missense_Mutation	SNP	ENST00000375541.5	37	c.2110G>A	CCDS30616.1	202	0.0924908424908425	54	0.10975609756097561	27	0.07458563535911603	41	0.07167832167832168	80	0.10554089709762533	g	7.919	0.738064	0.15574	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10668	2.85	5.01	4.1	0.47936	.	.	.	.	.	T	0.00300	0.0009	L	0.47716	1.5	0.30387	N	0.781339	D;P;P	0.57899	0.981;0.952;0.873	P;P;B	0.52554	0.702;0.579;0.439	T	0.02477	-1.1153	9	0.16420	T	0.52	.	13.1749	0.59621	0.0795:0.0:0.9205:0.0	rs2781608;rs3871256;rs3872330	567;7;704	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	T	704;585	ENSP00000364691:A704T	ENSP00000364691:A704T	A	+	1	0	CROCC	17144662	0.999000	0.42202	0.970000	0.41538	0.013000	0.08279	2.720000	0.47252	1.448000	0.47680	-0.215000	0.12644	GCC		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2	NM_014675		4	16	0	0	0	1	0	4	16				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	44	0	0	0	1	0	3	44				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	76	0	0	0	1	0	4	76				
TDRD5	163589	broad.mit.edu	37	1	179609053	179609053	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:179609053G>A	ENST00000367614.1	+	10	1959	c.1600G>A	c.(1600-1602)Gta>Ata	p.V534I	TDRD5_ENST00000294848.8_Missense_Mutation_p.V534I|TDRD5_ENST00000444136.1_Missense_Mutation_p.V534I	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	534	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TCTCTGTTGTGTAAGGATTTC	0.423																																						ENST00000444136.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(1600-1602)Gta>Ata		tudor domain containing 5							214.0	204.0	207.0					1																	179609053		2203	4300	6503	SO:0001583	missense	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179609053G>A	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1600G>A	1.37:g.179609053G>A	ENSP00000356586:p.Val534Ile					TDRD5_ENST00000294848.8_Missense_Mutation_p.V534I|TDRD5_ENST00000367614.1_Missense_Mutation_p.V534I	p.V534I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN			10	1850	+			534			Tudor.		A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	37	c.1600G>A	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.175937	0.57692	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.10860	2.83;2.83;2.83	5.33	4.42	0.53409	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.067875	0.64402	D	0.000019	T	0.25382	0.0617	M	0.62723	1.935	0.39209	D	0.96328	D;D	0.67145	0.996;0.996	D;D	0.68353	0.947;0.957	T	0.02121	-1.1210	10	0.51188	T	0.08	-2.5321	8.5477	0.33433	0.0821:0.1535:0.7644:0.0	.	534;534	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	I	534	ENSP00000356586:V534I;ENSP00000294848:V534I;ENSP00000406052:V534I	ENSP00000294848:V534I	V	+	1	0	TDRD5	177875676	1.000000	0.71417	0.976000	0.42696	0.634000	0.38068	5.434000	0.66526	1.249000	0.43950	-0.136000	0.14681	GTA		0.423	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533		70	82	0	0	0	1	0	70	82				
TACC2	10579	broad.mit.edu	37	10	123843832	123843832	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr10:123843832G>A	ENST00000369005.1	+	4	2157	c.1817G>A	c.(1816-1818)cGt>cAt	p.R606H	TACC2_ENST00000515273.1_Missense_Mutation_p.R606H|TACC2_ENST00000453444.2_Missense_Mutation_p.R606H|TACC2_ENST00000334433.3_Missense_Mutation_p.R606H|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R606H|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	606					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGCAGCAAGCGTGATCCAGAA	0.572																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(1816-1818)cGt>cAt		transforming, acidic coiled-coil containing protein 2							70.0	66.0	67.0					10																	123843832		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123843832G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.1817G>A	10.37:g.123843832G>A	ENSP00000358001:p.Arg606His					TACC2_ENST00000515273.1_Missense_Mutation_p.R606H|TACC2_ENST00000453444.2_Missense_Mutation_p.R606H|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R606H|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.R606H	p.R606H	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			4	2157	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	606					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.1817G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662280	0.29515	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03035	4.08;4.07;4.07;4.08;4.07	5.29	3.31	0.37934	.	0.733388	0.11267	N	0.581933	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	P;P;P	0.36616	0.561;0.561;0.561	B;B;B	0.24974	0.057;0.057;0.057	T	0.45862	-0.9232	10	0.72032	D	0.01	-0.3458	11.3784	0.49741	0.0:0.6235:0.3765:0.0	.	606;606;606	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	H	606;606;606;606;606;596	ENSP00000358001:R606H;ENSP00000424467:R606H;ENSP00000427618:R606H;ENSP00000334280:R606H;ENSP00000395048:R606H	ENSP00000334280:R606H	R	+	2	0	TACC2	123833822	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.150000	0.10189	1.233000	0.43693	-0.311000	0.09066	CGT		0.572	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			3	45	0	0	0	1	0	3	45				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	45	0	0	0	1	0	3	45				
ADNP2	22850	broad.mit.edu	37	18	77894961	77894961	+	Silent	SNP	T	T	C			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr18:77894961T>C	ENST00000262198.4	+	4	2120	c.1665T>C	c.(1663-1665)ccT>ccC	p.P555P		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	555					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GAGTTCTTCCTGTGGGCCAGC	0.557																																						ENST00000262198.4																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42						c.(1663-1665)ccT>ccC		ADNP homeobox 2							92.0	83.0	86.0					18																	77894961		2203	4300	6503	SO:0001819	synonymous_variant	22850				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:77894961T>C	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.1665T>C	18.37:g.77894961T>C							p.P555P	NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)	4	2120	+		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)	555					A8K951|O94943|Q9H9P3	Silent	SNP	ENST00000262198.4	37	c.1665T>C	CCDS32853.1																																																																																				0.557	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418979.1	NM_014913		5	92	0	0	0	1	0	5	92				
AP2A2	161	broad.mit.edu	37	11	981217	981217	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr11:981217C>T	ENST00000448903.2	+	6	764	c.623C>T	c.(622-624)aCa>aTa	p.T208I	AP2A2_ENST00000534328.1_Missense_Mutation_p.T208I|AP2A2_ENST00000332231.5_Missense_Mutation_p.T208I	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	208					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACTGCAGCCACAAGTCTGATC	0.453																																						ENST00000448903.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(622-624)aCa>aTa		adaptor-related protein complex 2, alpha 2 subunit							69.0	68.0	69.0					11																	981217		1972	4150	6122	SO:0001583	missense	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:981217C>T	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.623C>T	11.37:g.981217C>T	ENSP00000413234:p.Thr208Ile					AP2A2_ENST00000534328.1_Missense_Mutation_p.T208I|AP2A2_ENST00000332231.5_Missense_Mutation_p.T208I	p.T208I	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	6	764	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	208					O75403|Q53ET1|Q96SI8	Missense_Mutation	SNP	ENST00000448903.2	37	c.623C>T	CCDS44512.1	.	.	.	.	.	.	.	.	.	.	C	2.472	-0.321650	0.05386	.	.	ENSG00000183020	ENST00000525796;ENST00000534328;ENST00000417081;ENST00000448903;ENST00000332231;ENST00000448757;ENST00000329626	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	3.09	2.18	0.27775	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.196210	0.43919	D	0.000511	T	0.18173	0.0436	L	0.31752	0.955	0.19575	N	0.999969	B;B;B	0.13145	0.004;0.007;0.002	B;B;B	0.17098	0.017;0.015;0.012	T	0.20907	-1.0261	10	0.46703	T	0.11	.	10.9028	0.47062	0.0:0.9045:0.0:0.0954	.	101;208;208	Q59FN8;O94973-2;O94973	.;.;AP2A2_HUMAN	I	48;208;208;208;208;208;81	ENSP00000437228:T48I;ENSP00000436059:T208I;ENSP00000413234:T208I;ENSP00000327694:T208I	ENSP00000328024:T81I	T	+	2	0	AP2A2	971217	0.474000	0.25886	0.002000	0.10522	0.055000	0.15305	1.728000	0.38105	0.893000	0.36288	-0.229000	0.12294	ACA		0.453	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		4	8	0	0	0	1	0	4	8				
ZC3H14	79882	broad.mit.edu	37	14	89061103	89061103	+	Intron	SNP	T	T	G	rs565303355		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr14:89061103T>G	ENST00000251038.5	+	10	1504				ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000555900.1_Silent_p.P11P|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000406216.3_Silent_p.P11P|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000318308.6_Silent_p.P11P|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14							cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CATCACCACCTCTACCAATTT	0.378																																						ENST00000555900.1																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						c.(31-33)ccT>ccG		zinc finger CCCH-type containing 14							88.0	87.0	87.0					14																	89061103		2203	4300	6503	SO:0001627	intron_variant	79882					cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding	g.chr14:89061103T>G	AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1280-1975T>G	14.37:g.89061103T>G						ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000406216.3_Silent_p.P11P|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000318308.6_Silent_p.P11P|ZC3H14_ENST00000251038.5_Intron	p.P11P			Q6PJT7	ZC3HE_HUMAN			1	345	+			666					A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Silent	SNP	ENST00000251038.5	37	c.33T>G	CCDS32133.1																																																																																				0.378	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410387.1	NM_024824		5	63	0	0	0	1	0	5	63				
MYH13	8735	broad.mit.edu	37	17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(4156-4158)Cgc>Tgc		myosin, heavy chain 13, skeletal muscle							139.0	134.0	136.0					17																	10216500		2203	4300	6503	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10216500G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4156C>T	17.37:g.10216500G>A	ENSP00000404570:p.Arg1386Cys					MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C	p.R1386C			Q9UKX3	MYH13_HUMAN			29	4319	-			1386					O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.4156C>T	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.583801	0.46006	.	.	ENSG00000006788	ENST00000252172	T	0.81078	-1.45	3.96	3.96	0.45880	Myosin tail (1);	.	.	.	.	D	0.90363	0.6984	H	0.95043	3.615	0.46317	D	0.998982	B	0.30361	0.277	P	0.47376	0.545	D	0.91917	0.5544	9	0.87932	D	0	.	12.2372	0.54522	0.0868:0.0:0.9132:0.0	.	1386	Q9UKX3	MYH13_HUMAN	C	1386	ENSP00000252172:R1386C	ENSP00000252172:R1386C	R	-	1	0	MYH13	10157225	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.132000	0.31418	2.207000	0.71202	0.462000	0.41574	CGC		0.617	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		48	78	0	0	0	1	0	48	78				
LILRB1	10859	broad.mit.edu	37	19	55146590	55146590	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr19:55146590G>A	ENST00000396331.1	+	12	1876	c.1519G>A	c.(1519-1521)Gct>Act	p.A507T	LILRB1_ENST00000396332.4_Missense_Mutation_p.A507T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A507T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A508T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Missense_Mutation_p.A491T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A491T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A508T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A508T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A507T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A557T|LILRB1_ENST00000448689.1_Intron	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	507					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCTGCAGGGGCTGTGGGGCC	0.617										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1519-1521)Gct>Act		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							12.0	14.0	13.0					19																	55146590		2001	4127	6128	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146590G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1519G>A	19.37:g.55146590G>A	ENSP00000379622:p.Ala507Thr	HNSCC(37;0.09)				LILRB1_ENST00000434867.2_Missense_Mutation_p.A507T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A508T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A507T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A491T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A507T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A491T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A508T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A508T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A557T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_Intron	p.A507T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	12	1876	+			507					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1519G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	7.159	0.585397	0.13749	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00529	7.0;6.88;7.0;6.87;6.78;7.0;7.0;6.8;6.88;6.78	1.3	1.3	0.21679	.	.	.	.	.	T	0.01454	0.0047	M	0.85542	2.76	0.09310	N	1	B;B;P;P;D;D	0.65815	0.255;0.255;0.908;0.609;0.995;0.985	B;B;P;B;D;P	0.65233	0.046;0.067;0.544;0.235;0.933;0.836	T	0.43147	-0.9409	9	0.62326	D	0.03	.	5.9701	0.19346	0.0:0.0:1.0:0.0	.	491;507;508;507;508;507	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	T	507;491;507;508;508;507;507;557;491;508	ENSP00000379614:A507T;ENSP00000391514:A491T;ENSP00000379622:A507T;ENSP00000379618:A508T;ENSP00000315997:A508T;ENSP00000405243:A507T;ENSP00000379623:A507T;ENSP00000395004:A557T;ENSP00000379610:A491T;ENSP00000379608:A508T	ENSP00000315997:A508T	A	+	1	0	LILRB1	59838402	0.003000	0.15002	0.009000	0.14445	0.110000	0.19582	0.016000	0.13377	1.006000	0.39211	0.205000	0.17691	GCT		0.617	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			21	15	0	0	0	1	0	21	15				
NPC1L1	29881	broad.mit.edu	37	7	44578575	44578575	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr7:44578575G>A	ENST00000289547.4	-	2	1476	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	NPC1L1_ENST00000423141.1_Missense_Mutation_p.P474L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P474L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.P474L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	474					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CGGATTGAGGGGGGCGTAGCA	0.597																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1420-1422)cCc>cTc		NPC1-like 1	Ezetimibe(DB00973)						124.0	109.0	114.0					7																	44578575		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44578575G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1421C>T	7.37:g.44578575G>A	ENSP00000289547:p.Pro474Leu					NPC1L1_ENST00000381160.3_Missense_Mutation_p.P474L|NPC1L1_ENST00000423141.1_Missense_Mutation_p.P474L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.P474L	p.P474L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			2	1476	-			474					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1421C>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	g	18.09	3.546370	0.65198	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.98143	0.9387	M	0.93062	3.375	0.80722	D	1	D;D;D;D	0.89917	0.998;0.992;0.999;1.0	D;P;D;D	0.74674	0.913;0.9;0.984;0.976	D	0.99204	1.0874	10	0.72032	D	0.01	-43.0919	15.9151	0.79508	0.0:0.0:1.0:0.0	.	474;474;474;474	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	L	474	ENSP00000289547:P474L;ENSP00000370552:P474L;ENSP00000438033:P474L;ENSP00000404670:P474L	ENSP00000289547:P474L	P	-	2	0	NPC1L1	44545100	1.000000	0.71417	0.871000	0.34182	0.383000	0.30230	9.016000	0.93645	2.353000	0.79882	0.407000	0.27541	CCC		0.597	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	46	0	0	0	1	0	3	46				
TFEB	7942	broad.mit.edu	37	6	41658830	41658832	+	In_Frame_Del	DEL	TGC	TGC	-	rs150746914	byFrequency	TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr6:41658830_41658832delTGC	ENST00000230323.4	-	3	421_423	c.120_122delGCA	c.(118-123)cagcaa>caa	p.40_41QQ>Q	TFEB_ENST00000403298.4_In_Frame_Del_p.40_41QQ>Q|TFEB_ENST00000394283.1_In_Frame_Del_p.40_41QQ>Q|TFEB_ENST00000358871.2_In_Frame_Del_p.54_55QQ>Q|TFEB_ENST00000420312.1_In_Frame_Del_p.40_41QQ>Q|TFEB_ENST00000373033.1_In_Frame_Del_p.40_41QQ>Q	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	40	Gln-rich.|Poly-Gln.				autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.Q44delQ(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ctgctgctgttgctgctgctgct	0.65			T	ALPHA	renal (childhood epithelioid)						OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000394283.1				Dom	yes		6	6p21	7942	T	transcription factor EB			"""E,M"""	ALPHA		renal (childhood epithelioid)		1	Deletion - In frame(1)	p.Q44delQ(1)	prostate(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11						c.(118-123)caa>ca		transcription factor EB			,	99,2,3979		8,0,83,0,2,1947					,	3.2	1.0			17	237,1,7686		26,0,185,0,1,3750	no	codingComplex,codingComplex	TFEB	NM_007162.2,NM_001167827.1	,	34,0,268,0,3,5697	A1A1,A1A2,A1R,A2A2,A2R,RR		3.0035,2.4755,2.8241	,	,		336,3,11665				SO:0001651	inframe_deletion	7942				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr6:41658830_41658832delTGC	M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.120_122delGCA	6.37:g.41658839_41658841delTGC	ENSP00000230323:p.Gln44del		OREG0004069	type=REGULATORY REGION|Gene=TFEB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	902	TFEB_ENST00000403298.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000358871.2_In_Frame_Del_p.QQ56del|TFEB_ENST00000230323.4_In_Frame_Del_p.QQ42del|TFEB_ENST00000373033.1_In_Frame_Del_p.QQ42del|TFEB_ENST00000420312.1_In_Frame_Del_p.QQ42del	p.QQ42del			P19484	TFEB_HUMAN	Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)		2	1346_1348	-	Ovarian(28;0.0355)|Colorectal(47;0.121)		42			Gln-rich.|Poly-Gln.		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	In_Frame_Del	DEL	ENST00000230323.4	37	c.120_122delGCA	CCDS4858.1																																																																																				0.650	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			2	4						2	4	---	---	---	---
C16orf90	646174	broad.mit.edu	37	16	3546141	3546141	+	5'Flank	DEL	A	A	-	rs74546027		TCGA-EL-A4JV-01A-11D-A257-08	TCGA-EL-A4JV-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67e336bf-e6ed-466f-893b-7982c750b896	16336994-a1df-4fb0-ad6a-b43ca0b9ed1a	g.chr16:3546141delA	ENST00000437192.3	-	0	0				LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90											large_intestine(1)	1						actccgtctcaaaaaaaaaaa	0.557																																						ENST00000574423.2																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr16:3546141delA		CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627		16.37:g.3546141delA	Exception_encountered													0	111	+									RNA	DEL	ENST00000437192.3	37		CCDS45397.1																																																																																				0.557	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346319.2	NM_001080524		3	6						3	6	---	---	---	---
