#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
COG5	10466	broad.mit.edu	37	7	107167714	107167714	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr7:107167714A>G	ENST00000347053.3	-	6	649	c.599T>C	c.(598-600)aTa>aCa	p.I200T	COG5_ENST00000297135.3_Missense_Mutation_p.I200T|COG5_ENST00000393603.2_Missense_Mutation_p.I200T|COG5_ENST00000475638.2_5'UTR	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	200					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AGCTTTTGTTATCTCTCTACT	0.348																																						ENST00000393603.2																			0				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						c.(598-600)aTa>aCa		component of oligomeric golgi complex 5							110.0	99.0	103.0					7																	107167714		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:107167714A>G	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.599T>C	7.37:g.107167714A>G	ENSP00000334703:p.Ile200Thr					COG5_ENST00000475638.2_5'UTR|COG5_ENST00000347053.3_Missense_Mutation_p.I200T|COG5_ENST00000297135.3_Missense_Mutation_p.I200T	p.I200T	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN			6	870	-			200					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.599T>C	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.748835	0.89753	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.20332	2.1;2.1;2.08	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.46464	0.1394	M	0.77616	2.38	0.80722	D	1	D;D	0.71674	0.979;0.998	P;D	0.66351	0.702;0.943	T	0.42749	-0.9433	10	0.42905	T	0.14	-17.4091	15.837	0.78805	1.0:0.0:0.0:0.0	.	200;200	Q9UP83;Q9UP83-2	COG5_HUMAN;.	T	200	ENSP00000334703:I200T;ENSP00000297135:I200T;ENSP00000377228:I200T	ENSP00000297135:I200T	I	-	2	0	COG5	106954950	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.199000	0.70637	0.528000	0.53228	ATA		0.348	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4			5	56	0	0	0	1	0	5	56				
FEM1A	55527	broad.mit.edu	37	19	4793717	4793717	+	Silent	SNP	C	C	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:4793717C>A	ENST00000269856.3	+	1	1990	c.1851C>A	c.(1849-1851)gcC>gcA	p.A617A	AC005523.2_ENST00000596170.1_RNA|AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	617					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.A617A(4)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGAAGACGGCCTACGAGCTGC	0.607																																						ENST00000269856.3																			4	Substitution - coding silent(4)	p.A617A(4)	central_nervous_system(2)|lung(1)|endometrium(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1849-1851)gcC>gcA		fem-1 homolog a (C. elegans)																																				SO:0001819	synonymous_variant	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793717C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1851C>A	19.37:g.4793717C>A						AC005523.2_ENST00000601192.1_RNA	p.A617A	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1990	+		Hepatocellular(1079;0.137)	617					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Silent	SNP	ENST00000269856.3	37	c.1851C>A	CCDS12135.1																																																																																				0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			4	44	1	0	1	1	1	4	44				
WDR33	55339	broad.mit.edu	37	2	128522429	128522429	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr2:128522429G>A	ENST00000322313.4	-	6	757	c.599C>T	c.(598-600)gCa>gTa	p.A200V	WDR33_ENST00000393006.1_Missense_Mutation_p.A200V|WDR33_ENST00000409658.3_Missense_Mutation_p.A200V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	200					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCCTTATGTGCCTGGAACAT	0.413																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(598-600)gCa>gTa		WD repeat domain 33							190.0	152.0	165.0					2																	128522429		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128522429G>A		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.599C>T	2.37:g.128522429G>A	ENSP00000325377:p.Ala200Val					WDR33_ENST00000393006.1_Missense_Mutation_p.A200V|WDR33_ENST00000409658.3_Missense_Mutation_p.A200V	p.A200V	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	6	757	-	Colorectal(110;0.1)		200					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.599C>T	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.592900	0.86953	.	.	ENSG00000136709	ENST00000322313;ENST00000436787;ENST00000393006;ENST00000409658	T;T;T;T	0.62498	0.02;0.02;0.02;5.01	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	L	0.47716	1.5	0.80722	D	1	D;D;D	0.69078	0.994;0.99;0.997	D;P;D	0.80764	0.91;0.817;0.994	T	0.76206	-0.3044	10	0.66056	D	0.02	-11.5499	19.8478	0.96722	0.0:0.0:1.0:0.0	.	200;200;200	Q9C0J8-2;Q6NUQ0;Q9C0J8	.;.;WDR33_HUMAN	V	200;122;200;200	ENSP00000325377:A200V;ENSP00000397547:A122V;ENSP00000376730:A200V;ENSP00000387186:A200V	ENSP00000325377:A200V	A	-	2	0	WDR33	128238899	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.698000	0.92095	0.655000	0.94253	GCA		0.413	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		17	137	0	0	0	1	0	17	137				
TMC1	117531	broad.mit.edu	37	9	75420375	75420375	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr9:75420375T>G	ENST00000297784.5	+	18	2184	c.1644T>G	c.(1642-1644)tgT>tgG	p.C548W	TMC1_ENST00000396237.3_Missense_Mutation_p.C548W|TMC1_ENST00000340019.3_Missense_Mutation_p.C548W|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	548					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TAAGGGCATGTTTTGTGAGGT	0.353																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1642-1644)tgT>tgG		transmembrane channel-like 1							280.0	272.0	275.0					9																	75420375		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75420375T>G	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1644T>G	9.37:g.75420375T>G	ENSP00000297784:p.Cys548Trp					TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.C548W|TMC1_ENST00000396237.3_Missense_Mutation_p.C548W	p.C548W	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			18	2184	+			548					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.1644T>G	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212777	0.58452	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.62941	-0.01;-0.01;-0.01	6.08	-0.185	0.13276	.	0.116963	0.56097	D	0.000025	T	0.56247	0.1972	N	0.14661	0.345	0.45806	D	0.998683	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.68353	0.957;0.957;0.932	T	0.56341	-0.7995	10	0.72032	D	0.01	-20.2147	6.7617	0.23544	0.1157:0.4045:0.0:0.4798	.	515;515;548	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	W	548;548;515;515;515;542;548	ENSP00000297784:C548W;ENSP00000341433:C548W;ENSP00000379538:C548W	ENSP00000297784:C548W	C	+	3	2	TMC1	74610195	0.165000	0.22948	1.000000	0.80357	0.985000	0.73830	-0.579000	0.05834	0.159000	0.19401	0.482000	0.46254	TGT		0.353	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			9	201	0	0	0	1	0	9	201				
CCT4	10575	broad.mit.edu	37	2	62099293	62099293	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr2:62099293T>C	ENST00000394440.3	-	12	1711	c.1415A>G	c.(1414-1416)aAt>aGt	p.N472S	CCT4_ENST00000544185.1_Missense_Mutation_p.N322S|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.N442S|CCT4_ENST00000538252.1_Missense_Mutation_p.N416S|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	472					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			AGAAATGGGATTCAGGCCGGC	0.433																																						ENST00000394440.3																			0				breast(1)|large_intestine(2)|lung(6)|ovary(2)	11						c.(1414-1416)aAt>aGt		chaperonin containing TCP1, subunit 4 (delta)							102.0	101.0	101.0					2																	62099293		2203	4300	6503	SO:0001583	missense	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099293T>C		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1415A>G	2.37:g.62099293T>C	ENSP00000377958:p.Asn472Ser					CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.N442S|CCT4_ENST00000544185.1_Missense_Mutation_p.N322S|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.N416S	p.N472S	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		12	1711	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		472					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	c.1415A>G	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157601	0.57368	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.76169	0.3950	L	0.42632	1.34	0.80722	D	1	B;B	0.20459	0.045;0.016	B;B	0.23018	0.043;0.027	T	0.72394	-0.4307	10	0.48119	T	0.1	-25.4008	15.7401	0.77887	0.0:0.0:0.0:1.0	.	442;472	F5H5W3;P50991	.;TCPD_HUMAN	S	472;442;322;416	ENSP00000377958:N472S;ENSP00000443061:N442S;ENSP00000443451:N322S;ENSP00000442174:N416S	ENSP00000377958:N472S	N	-	2	0	CCT4	61952797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.231000	0.72307	2.246000	0.74042	0.533000	0.62120	AAT		0.433	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			44	91	0	0	0	1	0	44	91				
AHCY	191	broad.mit.edu	37	20	32878371	32878371	+	Silent	SNP	G	G	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr20:32878371G>A	ENST00000217426.2	-	7	917	c.840C>T	c.(838-840)gaC>gaT	p.D280D	AHCY_ENST00000468908.1_5'Flank|AHCY_ENST00000538132.1_Silent_p.D252D	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	280					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGATGATGTCAATACAGC	0.587																																						ENST00000538132.1																			0				endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(754-756)gaC>gaT		adenosylhomocysteinase							155.0	148.0	151.0					20																	32878371		2203	4300	6503	SO:0001819	synonymous_variant	191				methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding	g.chr20:32878371G>A	M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.840C>T	20.37:g.32878371G>A						AHCY_ENST00000217426.2_Silent_p.D280D	p.D252D	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN			7	1142	-			280					A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	c.756C>T	CCDS13233.1																																																																																				0.587	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		5	189	0	0	0	1	0	5	189				
ZNF844	284391	broad.mit.edu	37	19	12187275	12187275	+	Missense_Mutation	SNP	G	G	C	rs376579156	byFrequency	TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:12187275G>C	ENST00000439326.3	+	4	1515	c.1340G>C	c.(1339-1341)cGt>cCt	p.R447P	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R447P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCGTATGAGTGTA	0.433																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.R447P(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1339-1341)cGt>cCt		zinc finger protein 844							60.0	54.0	56.0					19																	12187275		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187275G>C	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1340G>C	19.37:g.12187275G>C	ENSP00000392024:p.Arg447Pro					ZNF844_ENST00000441304.2_3'UTR	p.R447P	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1515	+			447					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1340G>C	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	T	0.637	-0.814748	0.02776	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.03717	3.83	2.88	-3.56	0.04626	.	.	.	.	.	T	0.00524	0.0017	N	0.00049	-2.415	0.51482	D	0.999921	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.02654	T	1	.	2.6221	0.04919	0.1164:0.4107:0.122:0.3509	.	447	Q08AG5	ZN844_HUMAN	P	447	ENSP00000392024:R447P	ENSP00000392024:R447P	R	+	2	0	ZNF844	12048275	0.000000	0.05858	0.012000	0.15200	0.001000	0.01503	-7.066000	0.00045	-0.984000	0.03507	-4.296000	0.00007	CGT		0.433	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			4	134	0	0	0	1	0	4	134				
TADA3	10474	broad.mit.edu	37	3	9831245	9831245	+	Missense_Mutation	SNP	C	C	T	rs149462962		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr3:9831245C>T	ENST00000301964.2	-	4	1070	c.512G>A	c.(511-513)cGc>cAc	p.R171H	TADA3_ENST00000492635.1_5'Flank|ARPC4_ENST00000498623.2_5'Flank|ARPC4_ENST00000397261.3_5'Flank|TADA3_ENST00000343450.2_Missense_Mutation_p.R171H|TADA3_ENST00000440161.1_Missense_Mutation_p.R171H|ARPC4_ENST00000287613.7_5'Flank	NM_006354.2	NP_006345.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	171					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|intracellular estrogen receptor signaling pathway (GO:0030520)|mitotic nuclear division (GO:0007067)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of histone deacetylation (GO:0031063)|regulation of protein phosphorylation (GO:0001932)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of tubulin deacetylation (GO:0090043)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|intracellular (GO:0005622)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CTCAAGTGTGCGGACCTCCTC	0.562																																						ENST00000343450.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						c.(511-513)cGc>cAc		transcriptional adaptor 3		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	76.0	65.0	69.0		512,512	5.6	1.0	3	dbSNP_134	69	0,8600		0,0,4300	no	missense,missense	TADA3	NM_006354.2,NM_133480.1	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	171/433,171/370	9831245	2,13004	2203	4300	6503	SO:0001583	missense	10474				estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity	g.chr3:9831245C>T	AF069733	CCDS2583.1, CCDS2584.1	3p25.3	2010-08-13	2009-10-02	2009-10-02	ENSG00000171148	ENSG00000171148			19422	protein-coding gene	gene with protein product		602945	"""transcriptional adaptor 3 (NGG1 homolog, yeast)-like"""	TADA3L		9674425, 11707411	Standard	NM_006354		Approved	FLJ20221, FLJ21329, ADA3, hADA3, NGG1	uc010hcn.2	O75528	OTTHUMG00000128440	ENST00000301964.2:c.512G>A	3.37:g.9831245C>T	ENSP00000307684:p.Arg171His					TADA3_ENST00000301964.2_Missense_Mutation_p.R171H|TADA3_ENST00000440161.1_Missense_Mutation_p.R171H	p.R171H	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN			4	1059	-			171					Q6FI83|Q9UFS2	Missense_Mutation	SNP	ENST00000301964.2	37	c.512G>A	CCDS2583.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774272	0.69992	4.54E-4	0.0	ENSG00000171148	ENST00000301964;ENST00000440161;ENST00000343450	.	.	.	5.56	5.56	0.83823	.	0.055093	0.64402	D	0.000001	T	0.47637	0.1456	L	0.57536	1.79	0.80722	D	1	P	0.48350	0.909	B	0.38327	0.271	T	0.55315	-0.8160	9	0.62326	D	0.03	-29.5567	12.8232	0.57704	0.0:0.9253:0.0:0.0747	.	171	O75528	TADA3_HUMAN	H	171	.	ENSP00000307684:R171H	R	-	2	0	TADA3	9806245	1.000000	0.71417	0.999000	0.59377	0.397000	0.30659	5.742000	0.68646	2.622000	0.88805	0.655000	0.94253	CGC		0.562	TADA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250236.1			3	39	0	0	0	1	0	3	39				
DEFB112	245915	broad.mit.edu	37	6	50011343	50011343	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr6:50011343A>T	ENST00000322246.4	-	2	286	c.287T>A	c.(286-288)aTc>aAc	p.I96N		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	96					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					GTCCTTTGGGATCCAATTATT	0.413																																						ENST00000322246.4																			0				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(286-288)aTc>aAc		defensin, beta 112							152.0	128.0	136.0					6																	50011343		2203	4300	6503	SO:0001583	missense	245915				defense response to bacterium	extracellular region		g.chr6:50011343A>T	DQ012016	CCDS34476.1	6p12.3	2010-03-30			ENSG00000180872	ENSG00000180872		"""Defensins, beta"""	18093	protein-coding gene	gene with protein product						11854508, 16033865	Standard	NM_001037498		Approved	DEFB-12	uc011dws.2	Q30KQ8	OTTHUMG00000160215	ENST00000322246.4:c.287T>A	6.37:g.50011343A>T	ENSP00000319126:p.Ile96Asn						p.I96N	NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN			2	286	-	Lung NSC(77;0.042)		96					Q8NET0	Missense_Mutation	SNP	ENST00000322246.4	37	c.287T>A	CCDS34476.1	.	.	.	.	.	.	.	.	.	.	A	7.536	0.659665	0.14645	.	.	ENSG00000180872	ENST00000322246	.	.	.	0.649	0.649	0.17806	.	.	.	.	.	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.41332	0.354	T	0.15407	-1.0438	7	0.87932	D	0	.	.	.	.	.	96	Q30KQ8	DB112_HUMAN	N	96	.	ENSP00000319126:I96N	I	-	2	0	DEFB112	50119302	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	0.491000	0.22419	0.535000	0.28714	0.524000	0.50904	ATC		0.413	DEFB112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359672.1	NM_001037498		12	70	0	0	0	1	0	12	70				
ALB	213	broad.mit.edu	37	4	74280766	74280766	+	Missense_Mutation	SNP	A	A	G	rs537985931		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr4:74280766A>G	ENST00000503124.1	+	7	830	c.623A>G	c.(622-624)tAt>tGt	p.Y208C	ALB_ENST00000415165.2_Missense_Mutation_p.Y166C|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.Y243C|ALB_ENST00000509063.1_Missense_Mutation_p.Y358C|ALB_ENST00000295897.4_Missense_Mutation_p.Y358C			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGTATGAATATGCAAGAAGG	0.373																																						ENST00000295897.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1072-1074)tAt>tGt		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						139.0	140.0	140.0					4																	74280766		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74280766A>G	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.623A>G	4.37:g.74280766A>G	ENSP00000421027:p.Tyr208Cys					ALB_ENST00000509063.1_Missense_Mutation_p.Y358C|ALB_ENST00000503124.1_Missense_Mutation_p.Y208C|ALB_ENST00000415165.2_Missense_Mutation_p.Y166C|ALB_ENST00000401494.3_Missense_Mutation_p.Y243C|ALB_ENST00000505649.1_3'UTR	p.Y358C	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		9	1162	+	Breast(15;0.00102)		358			Albumin 2.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1073A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.85|13.85	2.359738|2.359738	0.41801|0.41801	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000511370|ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	.|T;T;T;T;T	.|0.74209	.|-0.82;-0.82;-0.82;-0.82;-0.82	5.84|5.84	-1.58|-1.58	0.08479|0.08479	.|Serum albumin-like (1);Serum albumin, N-terminal (3);	.|0.630252	.|0.15625	.|N	.|0.252689	D|D	0.83806|0.83806	0.5334|0.5334	M|M	0.86502|0.86502	2.82|2.82	0.09310|0.09310	N|N	1|1	.|D;D;D;D;P	.|0.89917	.|1.0;0.994;1.0;0.983;0.884	.|D;D;D;P;P	.|0.97110	.|1.0;0.912;0.998;0.847;0.76	T|T	0.72500|0.72500	-0.4274|-0.4274	5|10	.|0.87932	.|D	.|0	-18.4176|-18.4176	6.6849|6.6849	0.23140|0.23140	0.4917:0.0:0.066:0.4422|0.4917:0.0:0.066:0.4422	.|.	.|243;166;208;358;358	.|B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.|.;.;.;.;ALBU_HUMAN	M|C	202|358;166;208;358;243;367	.|ENSP00000295897:Y358C;ENSP00000401820:Y166C;ENSP00000421027:Y208C;ENSP00000422784:Y358C;ENSP00000384695:Y243C	.|ENSP00000295897:Y358C	I|Y	+|+	3|2	3|0	ALB|ALB	74499630|74499630	0.012000|0.012000	0.17670|0.17670	0.021000|0.021000	0.16686|0.16686	0.756000|0.756000	0.42949|0.42949	1.352000|1.352000	0.34033|0.34033	0.079000|0.079000	0.16929|0.16929	-0.333000|-0.333000	0.08304|0.08304	ATA|TAT		0.373	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477		5	143	0	0	0	1	0	5	143				
ARSA	410	broad.mit.edu	37	22	51065311	51065311	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr22:51065311G>A	ENST00000547307.1	-	3	1034	c.629C>T	c.(628-630)gCc>gTc	p.A210V	ARSA_ENST00000356098.5_Missense_Mutation_p.A212V|ARSA_ENST00000547805.1_Missense_Mutation_p.A210V|ARSA_ENST00000395621.3_Missense_Mutation_p.A212V|ARSA_ENST00000453344.2_Missense_Mutation_p.A126V|ARSA_ENST00000216124.5_Missense_Mutation_p.A212V|ARSA_ENST00000395619.3_Missense_Mutation_p.A212V			P15289	ARSA_HUMAN	arylsulfatase A	210					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CTGGGCGTCGGCCATGAGGTC	0.657																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(628-630)gCc>gTc		arylsulfatase A	Micafungin(DB01141)						92.0	108.0	103.0					22																	51065311		2202	4300	6502	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51065311G>A	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.629C>T	22.37:g.51065311G>A	ENSP00000448440:p.Ala210Val					ARSA_ENST00000356098.5_Missense_Mutation_p.A212V|ARSA_ENST00000395619.3_Missense_Mutation_p.A212V|ARSA_ENST00000216124.5_Missense_Mutation_p.A212V|ARSA_ENST00000395621.3_Missense_Mutation_p.A212V|ARSA_ENST00000547805.1_Missense_Mutation_p.A210V|ARSA_ENST00000453344.2_Missense_Mutation_p.A126V	p.A210V			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	1034	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	210					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.629C>T		.	.	.	.	.	.	.	.	.	.	G	7.148	0.583216	0.13749	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.95412	-3.7;-3.7;-3.7;-3.7;-3.7;-3.7;-3.7	5.37	2.93	0.34026	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.859545	0.10840	N	0.628376	D	0.91556	0.7333	L	0.48362	1.52	0.09310	N	1	B	0.13145	0.007	B	0.11329	0.006	T	0.82750	-0.0303	10	0.35671	T	0.21	.	5.3441	0.16000	0.1936:0.0:0.6401:0.1664	.	210	P15289	ARSA_HUMAN	V	212;212;210;210;212;126;212	ENSP00000348406:A212V;ENSP00000216124:A212V;ENSP00000448440:A210V;ENSP00000448932:A210V;ENSP00000378983:A212V;ENSP00000412542:A126V;ENSP00000378981:A212V	ENSP00000216124:A212V	A	-	2	0	ARSA	49412177	0.004000	0.15560	0.269000	0.24586	0.299000	0.27559	1.494000	0.35616	1.279000	0.44446	0.505000	0.49811	GCC		0.657	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		4	157	0	0	0	1	0	4	157				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	60	0	0	0	1	0	3	60				
NUP188	23511	broad.mit.edu	37	9	131760467	131760467	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr9:131760467G>A	ENST00000372577.2	+	31	3410	c.3389G>A	c.(3388-3390)cGc>cAc	p.R1130H		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1130					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GTGGTGCGTCGCCAGCTCTTT	0.438																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(3388-3390)cGc>cAc		nucleoporin 188kDa							203.0	205.0	204.0					9																	131760467		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131760467G>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.3389G>A	9.37:g.131760467G>A	ENSP00000361658:p.Arg1130His						p.R1130H	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			31	3410	+			1130					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.3389G>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	9.043	0.990052	0.18966	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.31510	1.49	5.67	2.86	0.33363	.	0.257998	0.39544	N	0.001326	T	0.20740	0.0499	L	0.36672	1.1	0.30026	N	0.813911	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.22347	-1.0219	10	0.15499	T	0.54	-2.5035	9.5606	0.39366	0.3138:0.0:0.6862:0.0	.	463;1130	E9PET9;Q5SRE5	.;NU188_HUMAN	H	1019;1130	ENSP00000361658:R1130H	ENSP00000349125:R1019H	R	+	2	0	NUP188	130800288	0.998000	0.40836	1.000000	0.80357	0.579000	0.36224	0.717000	0.25851	0.349000	0.23975	-1.149000	0.01842	CGC		0.438	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			5	363	0	0	0	1	0	5	363				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		4	294	0	0	0	1	0	4	294				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	26	0	0	0	1	0	3	26				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	48	0	0	0	1	0	3	48				
DPPA4	55211	broad.mit.edu	37	3	109050579	109050579	+	Splice_Site	SNP	A	A	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr3:109050579A>G	ENST00000335658.6	-	4	445		c.e4+1		DPPA4_ENST00000478791.1_Splice_Site	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4						lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTAAAAAGTTACCTTTTGATT	0.398																																						ENST00000335658.6																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.e4+1		developmental pluripotency associated 4							96.0	91.0	93.0					3																	109050579		2203	4300	6503	SO:0001630	splice_region_variant	55211					nucleus	protein binding	g.chr3:109050579A>G	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.390+1T>C	3.37:g.109050579A>G						DPPA4_ENST00000478791.1_Splice_Site		NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN			4	445	-								A8K4M7|Q9H9N5|Q9NVI6	Splice_Site	SNP	ENST00000335658.6	37		CCDS33814.1	.	.	.	.	.	.	.	.	.	.	A	12.89	2.072356	0.36566	.	.	ENSG00000121570	ENST00000335658	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8438	0.41015	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPPA4	110533269	0.997000	0.39634	0.718000	0.30602	0.208000	0.24298	3.282000	0.51693	2.104000	0.64026	0.529000	0.55759	.		0.398	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189	Intron	4	65	0	0	0	1	0	4	65				
PPP1R13L	10848	broad.mit.edu	37	19	45900240	45900240	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr19:45900240C>G	ENST00000418234.2	-	4	353	c.275G>C	c.(274-276)gGc>gCc	p.G92A	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G92A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	92	Pro-rich.				apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGTGTCTGCGCCGTCGGTGGC	0.721																																					Pancreas(61;1447 1663 31419 50578)	ENST00000418234.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(274-276)gGc>gCc		protein phosphatase 1, regulatory subunit 13 like							15.0	22.0	20.0					19																	45900240		2155	4225	6380	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45900240C>G	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.275G>C	19.37:g.45900240C>G	ENSP00000403902:p.Gly92Ala					PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G92A	p.G92A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	4	353	-		all_neural(266;0.224)|Ovarian(192;0.231)	92			Pro-rich.		Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.275G>C	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849579	0.32699	.	.	ENSG00000104881	ENST00000418234;ENST00000360957	T;T	0.59502	0.26;0.26	4.86	2.73	0.32206	.	0.736542	0.13822	N	0.360316	T	0.36580	0.0972	N	0.24115	0.695	0.09310	N	1	P;B	0.42456	0.78;0.147	B;B	0.39068	0.289;0.06	T	0.11966	-1.0566	10	0.10377	T	0.69	.	7.3649	0.26768	0.0:0.7966:0.0:0.2034	.	92;92	Q6ZNZ8;Q8WUF5	.;IASPP_HUMAN	A	92	ENSP00000403902:G92A;ENSP00000354218:G92A	ENSP00000354218:G92A	G	-	2	0	PPP1R13L	50592080	0.041000	0.20044	0.173000	0.22940	0.748000	0.42578	1.383000	0.34385	0.572000	0.29383	0.462000	0.41574	GGC		0.721	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		5	13	0	0	0	1	0	5	13				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			80862							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	85	0	0	0	1	0	5	85				
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr7:100369721delT	ENST00000348028.3	+	0	5590				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369721delT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369721delT						ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	4						3	4	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481251	142481251	+	RNA	SNP	A	A	C	rs200856228		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr7:142481251A>C	ENST00000603901.1	+	0	325					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CAATGACATCATGCTGATCAA	0.522																																						ENST00000603901.1																			0																				201.0	140.0	159.0					7																	142481251		684	1494	2178			154754							g.chr7:142481251A>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481251A>C								NR_001296.3						0	325	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	74	0	0	0	1	0	4	74				
MROH5	389690	broad.mit.edu	37	8	142459777	142459778	+	RNA	INS	-	-	A	rs144781370|rs551918924	byFrequency	TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr8:142459777_142459778insA	ENST00000430863.1	-	0	2629_2630				SNORD5_ENST00000458800.1_RNA	NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GCAGACAGGCCAGCAGTGTGGT	0.678													A|A|AA|insertion	278	0.0555112	0.1331	0.0403	5008	,	,		17224	0.0		0.0557	False		,,,				2504	0.0184					ENST00000430863.1																			0													maestro heat-like repeat family member 5				474,3476		80,314,1581						3.1	0.5		dbSNP_134	17	475,7371		49,377,3497	no	frameshift	FLJ43860	NM_207414.2		129,691,5078	A1A1,A1R,RR		6.054,12.0,8.0451				949,10847						389690							g.chr8:142459777_142459778insA			8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"""maestro heat-like repeat containing"""	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142459778_142459778dupA								NM_207414.2	NP_997297.2					0	2629_2630	-									RNA	INS	ENST00000430863.1	37																																																																																						0.678	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000342412.4	NM_207414		4	2						4	2	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs376287018|rs372916982|rs370785084|rs56194704		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggg>ctgCTGggg	p.33_34insL		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-102)ctgggc>ctCTGgggc		dachsous cadherin-related 1																																				SO:0001652	inframe_insertion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662745_6662746insCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99dupCTG	11.37:g.6662752_6662754dupCAG	ENSP00000299441:p.Leu33_Leu33dup						p.33_34LG>LWG	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	510_511	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Ins	INS	ENST00000299441.3	37	c.99_100insCTG	CCDS7771.1																																																																																				0.639	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		5	5						5	5	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-QR-A70Q-01A-13D-A35D-08	TCGA-QR-A70Q-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb88eff-474b-4640-bb0f-c69066b69dac	e2fe5304-a8b9-49ba-997c-7c930b54f411	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E|SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		4	5						4	5	---	---	---	---
