#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
DIDO1	11083	broad.mit.edu	37	20	61542656	61542656	+	Silent	SNP	G	G	C			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr20:61542656G>C	ENST00000266070.4	-	3	634	c.309C>G	c.(307-309)ccC>ccG	p.P103P	DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	103					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTCTGTGGCGGGGCAGGACG	0.662																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(307-309)ccC>ccG		death inducer-obliterator 1							25.0	23.0	24.0					20																	61542656		2195	4288	6483	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542656G>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.309C>G	20.37:g.61542656G>C						DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P	p.P103P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			3	634	-	Breast(26;5.68e-08)		103					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.309C>G	CCDS33506.1																																																																																				0.662	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		15	19	0	0	0	1	0	15	19				
IGSF9B	22997	broad.mit.edu	37	11	133796909	133796909	+	Missense_Mutation	SNP	T	T	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr11:133796909T>A	ENST00000321016.8	-	13	1939	c.1709A>T	c.(1708-1710)gAc>gTc	p.D570V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.D570V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	570	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCCAGGGTGTCCACCAGCAG	0.602																																						ENST00000321016.8																			0				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1708-1710)gAc>gTc		immunoglobulin superfamily, member 9B							20.0	25.0	23.0					11																	133796909		2090	4201	6291	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133796909T>A	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1709A>T	11.37:g.133796909T>A	ENSP00000317980:p.Asp570Val					IGSF9B_ENST00000533871.2_Missense_Mutation_p.D570V	p.D570V			Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	13	1939	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	570			Fibronectin type-III 1.		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.1709A>T		.	.	.	.	.	.	.	.	.	.	T	14.49	2.550102	0.45383	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.56776	0.44;0.44;0.44	5.8	5.8	0.92144	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41026	0.1141	N	0.12443	0.215	0.58432	D	0.999999	B	0.20164	0.042	B	0.34346	0.18	T	0.29761	-1.0001	9	0.21014	T	0.42	.	16.1502	0.81611	0.0:0.0:0.0:1.0	.	570	Q9UPX0	TUTLB_HUMAN	V	570;412;570	ENSP00000317980:D570V;ENSP00000436552:D412V;ENSP00000436576:D570V	ENSP00000317980:D570V	D	-	2	0	IGSF9B	133302119	1.000000	0.71417	0.943000	0.38184	0.956000	0.61745	5.203000	0.65174	2.224000	0.72417	0.533000	0.62120	GAC		0.602	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		8	5	0	0	0	1	0	8	5				
SETDB2	83852	broad.mit.edu	37	13	50055170	50055170	+	Silent	SNP	G	G	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr13:50055170G>A	ENST00000317257.8	+	9	1935	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	SETDB2_ENST00000354234.4_Silent_p.Q358Q|SETDB2_ENST00000258672.5_Silent_p.Q358Q	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	370	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TGAGGTTACAGGTGTTCAAAA	0.398																																						ENST00000354234.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(1072-1074)caG>caA		SET domain, bifurcated 2							175.0	150.0	159.0					13																	50055170		2203	4300	6503	SO:0001819	synonymous_variant	83852				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	g.chr13:50055170G>A	AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1110G>A	13.37:g.50055170G>A						SETDB2_ENST00000317257.8_Silent_p.Q370Q|SETDB2_ENST00000258672.5_Silent_p.Q358Q	p.Q358Q	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)	8	1980	+		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	370			Pre-SET.		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Silent	SNP	ENST00000317257.8	37	c.1074G>A	CCDS9417.1																																																																																				0.398	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915		12	95	0	0	0	1	0	12	95				
TPTE2P2	644623	broad.mit.edu	37	13	52865661	52865661	+	RNA	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr13:52865661C>A	ENST00000451298.1	-	0	31																											AAGGATGACACAATTGAATGA	0.289																																						ENST00000451298.1																			0																																																			644623							g.chr13:52865661C>A																													13.37:g.52865661C>A						RP11-64P12.8_ENST00000606031.1_RNA								0	31	-									RNA	SNP	ENST00000451298.1	37																																																																																						0.289	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			4	33	1	0	0.00909568	1	0.00938909	4	33				
PLEKHA7	144100	broad.mit.edu	37	11	16863161	16863161	+	Missense_Mutation	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr11:16863161C>A	ENST00000355661.3	-	9	815	c.805G>T	c.(805-807)Gac>Tac	p.D269Y	RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D269Y|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D269Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	269	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCGTTCATGTCCTCCTGGGTG	0.592																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(805-807)Gac>Tac		pleckstrin homology domain containing, family A member 7							137.0	114.0	122.0					11																	16863161		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16863161C>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.805G>T	11.37:g.16863161C>A	ENSP00000347883:p.Asp269Tyr					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.D269Y|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.D269Y	p.D269Y			Q6IQ23	PKHA7_HUMAN			9	815	-			269			PH.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.805G>T	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.731228	0.89390	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.16073	2.37;2.37;2.37	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.140286	0.64402	D	0.000007	T	0.56093	0.1962	H	0.95574	3.69	0.80722	D	1	D;D	0.61080	0.989;0.98	D;P	0.69307	0.963;0.834	T	0.69573	-0.5109	10	0.87932	D	0	-33.9177	19.2366	0.93862	0.0:1.0:0.0:0.0	.	269;269	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	Y	269	ENSP00000435389:D269Y;ENSP00000347883:D269Y;ENSP00000416895:D269Y	ENSP00000347883:D269Y	D	-	1	0	PLEKHA7	16819737	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.198000	0.77823	2.857000	0.98124	0.650000	0.86243	GAC		0.592	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		6	28	1	0	0.0293803	1	0.0293803	6	28				
PMM1	5372	broad.mit.edu	37	22	41980005	41980005	+	Missense_Mutation	SNP	G	G	C			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr22:41980005G>C	ENST00000216259.7	-	5	516	c.432C>G	c.(430-432)agC>agG	p.S144R	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	144					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCAGGGTGCAGCTCCGGCCGA	0.567																																						ENST00000216259.7																			0				NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(430-432)agC>agG		phosphomannomutase 1							117.0	103.0	108.0					22																	41980005		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980005G>C		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.432C>G	22.37:g.41980005G>C	ENSP00000216259:p.Ser144Arg					PMM1_ENST00000466645.1_5'UTR	p.S144R	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN			5	516	-			144					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.432C>G	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	G	35	5.504497	0.96371	.	.	ENSG00000100417	ENST00000216259	D	0.98362	-4.89	5.41	5.41	0.78517	HAD-like domain (1);	0.265426	0.50627	D	0.000104	D	0.97688	0.9242	M	0.80508	2.5	0.80722	D	1	P	0.47034	0.889	B	0.40864	0.342	D	0.98352	1.0544	10	0.52906	T	0.07	-20.4761	19.1954	0.93686	0.0:0.0:1.0:0.0	.	144	Q92871	PMM1_HUMAN	R	144	ENSP00000216259:S144R	ENSP00000216259:S144R	S	-	3	2	PMM1	40309951	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.871000	0.87180	2.537000	0.85549	0.563000	0.77884	AGC		0.567	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		9	59	0	0	0	1	0	9	59				
XPO7	23039	broad.mit.edu	37	8	21827087	21827087	+	Splice_Site	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr8:21827087C>A	ENST00000252512.9	+	3	359	c.259C>A	c.(259-261)Cgg>Agg	p.R87R	XPO7_ENST00000434536.1_Splice_Site_p.R87R|XPO7_ENST00000433566.4_Splice_Site_p.R88R|XPO7_ENST00000518017.1_3'UTR	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	87	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AATAGATATTCGTAAGTGGAG	0.398																																						ENST00000434536.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.e3+1		exportin 7							79.0	75.0	76.0					8																	21827087		1856	4105	5961	SO:0001630	splice_region_variant	23039				mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity	g.chr8:21827087C>A	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.259+1C>A	8.37:g.21827087C>A						XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000252512.9_Splice_Site_p.R87_splice|XPO7_ENST00000433566.4_Splice_Site_p.R88_splice	p.R87_splice			Q9UIA9	XPO7_HUMAN		Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)	3	361	+			87			Importin N-terminal.		O94846|Q6PJK9|Q8NEK7	Splice_Site	SNP	ENST00000252512.9	37	c.259_splice	CCDS47818.1	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316939	0.60524	.	.	ENSG00000130227	ENST00000521303	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	T	0.75354	0.3838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72947	-0.4137	4	.	.	.	-16.741	19.3771	0.94514	0.0:1.0:0.0:0.0	.	.	.	.	L	91	.	.	F	+	3	2	XPO7	21883033	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.347000	0.79356	2.753000	0.94483	0.591000	0.81541	TTC		0.398	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375494.1	NM_015024	Silent	3	9	1	0	6.4e-05	1	7.31429e-05	3	9				
TEX11	56159	broad.mit.edu	37	X	69825319	69825319	+	Missense_Mutation	SNP	T	T	C			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chrX:69825319T>C	ENST00000395889.2	-	25	2199	c.2044A>G	c.(2044-2046)Aca>Gca	p.T682A	TEX11_ENST00000374333.2_Missense_Mutation_p.T667A|TEX11_ENST00000344304.3_Missense_Mutation_p.T682A|TEX11_ENST00000374320.2_Missense_Mutation_p.T357A	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	682					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AGTAAACATGTTTTCCGTGCA	0.393																																						ENST00000395889.2																			0				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48						c.(2044-2046)Aca>Gca		testis expressed 11							120.0	100.0	107.0					X																	69825319		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69825319T>C	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.2044A>G	X.37:g.69825319T>C	ENSP00000379226:p.Thr682Ala					TEX11_ENST00000374320.2_Missense_Mutation_p.T357A|TEX11_ENST00000374333.2_Missense_Mutation_p.T667A|TEX11_ENST00000344304.3_Missense_Mutation_p.T682A	p.T682A	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN			25	2199	-	Renal(35;0.156)		682					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.2044A>G	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127669	0.37533	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	4.83	3.63	0.41609	.	0.135266	0.48767	D	0.000170	T	0.43411	0.1246	L	0.55834	1.745	0.24834	N	0.992507	B;B	0.32467	0.172;0.372	B;B	0.33799	0.134;0.17	T	0.31166	-0.9953	9	.	.	.	-5.4697	6.4189	0.21732	0.0:0.1146:0.0:0.8854	.	667;682	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	A	667;682;357;682	ENSP00000363453:T667A;ENSP00000379226:T682A;ENSP00000363440:T357A;ENSP00000340995:T682A	.	T	-	1	0	TEX11	69742044	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	2.366000	0.44204	1.794000	0.52575	0.441000	0.28932	ACA		0.393	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			10	21	0	0	0	1	0	10	21				
LILRA4	23547	broad.mit.edu	37	19	54848254	54848254	+	Silent	SNP	G	G	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr19:54848254G>A	ENST00000291759.4	-	6	1169	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	371	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TATGAGCTCCGTACATTGATC	0.587																																						ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(1111-1113)taC>taT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							170.0	154.0	160.0					19																	54848254		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54848254G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1113C>T	19.37:g.54848254G>A						AC008984.2_ENST00000507363.1_RNA	p.Y371Y	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	6	1169	-	Ovarian(34;0.19)		371			Ig-like C2-type 4.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.1113C>T	CCDS12890.1																																																																																				0.587	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		9	85	0	0	0	1	0	9	85				
GFI1B	8328	broad.mit.edu	37	9	135866270	135866270	+	Missense_Mutation	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr9:135866270C>A	ENST00000339463.3	+	11	1645	c.826C>A	c.(826-828)Cac>Aac	p.H276N	GFI1B_ENST00000372122.1_Missense_Mutation_p.H276N|GFI1B_ENST00000534944.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372123.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372124.1_Missense_Mutation_p.H230N|GFI1B_ENST00000450530.1_Missense_Mutation_p.H276N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	276	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TGAGAAGCCGCACAAGTGCCA	0.652																																						ENST00000339463.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(826-828)Cac>Aac		growth factor independent 1B transcription repressor							64.0	56.0	59.0					9																	135866270		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866270C>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.826C>A	9.37:g.135866270C>A	ENSP00000344782:p.His276Asn					GFI1B_ENST00000534944.1_Missense_Mutation_p.H230N|GFI1B_ENST00000450530.1_Missense_Mutation_p.H276N|GFI1B_ENST00000372123.1_Missense_Mutation_p.H230N|GFI1B_ENST00000372122.1_Missense_Mutation_p.H276N|GFI1B_ENST00000372124.1_Missense_Mutation_p.H230N	p.H276N			Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	11	1645	+			276			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.826C>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253435	0.80135	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.47838	0.1467	M	0.77820	2.39	0.80722	D	1	D;P	0.54207	0.965;0.925	D;P	0.64595	0.927;0.9	T	0.51957	-0.8639	10	0.72032	D	0.01	-21.2754	17.4238	0.87521	0.0:1.0:0.0:0.0	.	230;276	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	N	230;276;276;230;230;276	ENSP00000361197:H230N;ENSP00000344782:H276N;ENSP00000409546:H276N;ENSP00000446134:H230N;ENSP00000361196:H230N;ENSP00000361195:H276N	ENSP00000344782:H276N	H	+	1	0	GFI1B	134856091	1.000000	0.71417	0.950000	0.38849	0.783000	0.44284	7.776000	0.85560	2.425000	0.82216	0.462000	0.41574	CAC		0.652	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		7	27	1	0	0.000157383	1	0.000173664	7	27				
BMS1P20	96610	broad.mit.edu	37	22	22661478	22661478	+	RNA	SNP	T	T	G			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr22:22661478T>G	ENST00000426066.1	+	0	368					NR_027293.1				BMS1 pseudogene 20																		CAGATGCGTCTGAAGAAACAT	0.488																																						ENST00000426066.1																			0																																																			96610							g.chr22:22661478T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661478T>G								NR_027293.1						0	368	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	49	0	0	0	1	0	5	49				
NEURL1	9148	broad.mit.edu	37	10	105331472	105331472	+	Missense_Mutation	SNP	G	G	A	rs575166034		TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr10:105331472G>A	ENST00000369780.4	+	3	951	c.542G>A	c.(541-543)cGc>cAc	p.R181H	NEURL_ENST00000465048.1_3'UTR|NEURL_ENST00000369777.2_Missense_Mutation_p.R164H	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		181	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTCTTCCACCGCATCAACGAC	0.637													g|||	1	0.000199681	0.0	0.0	5008	,	,		20656	0.0		0.0	False		,,,				2504	0.001					ENST00000369780.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(541-543)cGc>cAc									174.0	115.0	135.0					10																	105331472		2203	4300	6503	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105331472G>A																												ENST00000369780.4:c.542G>A	10.37:g.105331472G>A	ENSP00000358795:p.Arg181His					NEURL_ENST00000369777.2_Missense_Mutation_p.R164H|NEURL_ENST00000465048.1_3'UTR	p.R181H	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	951	+			181			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.542G>A	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130257	0.77549	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	T;T	0.29917	1.55;1.55	5.64	5.64	0.86602	NEUZ (2);	0.050581	0.85682	D	0.000000	T	0.42675	0.1213	L	0.46741	1.465	0.80722	D	1	D	0.71674	0.998	P	0.56612	0.802	T	0.05354	-1.0890	10	0.16896	T	0.51	-31.6928	18.6966	0.91603	0.0:0.0:1.0:0.0	.	181	O76050	NEU1A_HUMAN	H	181;164;164;106	ENSP00000358795:R181H;ENSP00000358792:R164H	ENSP00000358792:R164H	R	+	2	0	NEURL	105321462	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.007000	0.88571	2.648000	0.89879	0.561000	0.74099	CGC		0.637	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1			4	58	0	0	0	1	0	4	58				
CYP21A1P	1590	broad.mit.edu	37	6	31975463	31975463	+	5'Flank	SNP	T	T	C	rs370433041	byFrequency	TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr6:31975463T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							GCAGCGACTGTAGGAGGAGCT	0.657													C|||	271	0.0541134	0.1324	0.0303	5008	,	,		12708	0.0288		0.0268	False		,,,				2504	0.0194					ENST00000342991.6																			0																																																	SO:0001631	upstream_gene_variant	1590						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31975463T>C																													6.37:g.31975463T>C	Exception_encountered							NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	1386	+									RNA	SNP	ENST00000594256.1	37																																																																																						0.657	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				3	7	0	0	0	1	0	3	7				
PCNX	22990	broad.mit.edu	37	14	71570317	71570317	+	Missense_Mutation	SNP	T	T	G			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr14:71570317T>G	ENST00000304743.2	+	32	6472	c.6026T>G	c.(6025-6027)cTt>cGt	p.L2009R	PCNX_ENST00000238570.5_Missense_Mutation_p.L1937R|PCNX_ENST00000439984.3_Missense_Mutation_p.L1898R|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2009						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CACGAACAGCTTAAAGACATT	0.453																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(6025-6027)cTt>cGt		pecanex homolog (Drosophila)							111.0	109.0	109.0					14																	71570317		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71570317T>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6026T>G	14.37:g.71570317T>G	ENSP00000304192:p.Leu2009Arg					PCNX_ENST00000238570.5_Missense_Mutation_p.L1937R|PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.L1898R	p.L2009R	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	32	6472	+			2009					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6026T>G	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.5|24.5	4.534679|4.534679	0.85812|0.85812	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|T	0.52983|0.48836	0.64;0.64;0.64|0.8	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.69223|0.69223	0.3087|0.3087	M|M	0.86178|0.86178	2.8|2.8	0.41269|0.41269	D|D	0.986839|0.986839	D;D;D|.	0.89917|.	1.0;0.999;1.0|.	D;D;D|.	0.87578|.	0.998;0.99;0.997|.	T|T	0.74312|0.74312	-0.3706|-0.3706	10|7	0.87932|.	D|.	0|.	.|.	15.693|15.693	0.77469|0.77469	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1937;1898;2009|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	R|V	2009;1937;1898|996	ENSP00000304192:L2009R;ENSP00000238570:L1937R;ENSP00000396617:L1898R|ENSP00000451016:L996V	ENSP00000238570:L1937R|.	L|L	+|+	2|1	0|2	PCNX|PCNX	70640070|70640070	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.949000|0.949000	0.60115|0.60115	7.698000|7.698000	0.84413|0.84413	2.160000|2.160000	0.67779|0.67779	0.533000|0.533000	0.62120|0.62120	CTT|TTA		0.453	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		4	56	0	0	0	1	0	4	56				
FLG	2312	broad.mit.edu	37	1	152280504	152280504	+	Silent	SNP	G	G	A	rs141571186		TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr1:152280504G>A	ENST00000368799.1	-	3	6893	c.6858C>T	c.(6856-6858)caC>caT	p.H2286H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2286	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGTCTTCGTGATGGGACC	0.557									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6856-6858)caC>caT		filaggrin							256.0	261.0	259.0					1																	152280504		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280504G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6858C>T	1.37:g.152280504G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H2286H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6893	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2286			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6858C>T	CCDS30860.1																																																																																				0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	322	0	0	0	1	0	7	322				
STAC3	246329	broad.mit.edu	37	12	57642948	57642948	+	Silent	SNP	T	T	C			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr12:57642948T>C	ENST00000332782.2	-	3	411	c.210A>G	c.(208-210)gaA>gaG	p.E70E	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Silent_p.E31E	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	70	Poly-Glu.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						cctcctcttcttcctcttcct	0.542																																						ENST00000332782.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						c.(208-210)gaA>gaG		SH3 and cysteine rich domain 3							59.0	60.0	59.0					12																	57642948		2203	4300	6503	SO:0001819	synonymous_variant	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642948T>C	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.210A>G	12.37:g.57642948T>C						STAC3_ENST00000554578.1_Silent_p.E31E|STAC3_ENST00000546246.2_Intron	p.E70E	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN			3	411	-			70			Poly-Glu.		B4DUK9|Q96HU5	Silent	SNP	ENST00000332782.2	37	c.210A>G	CCDS8936.1																																																																																				0.542	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		3	40	0	0	0	1	0	3	40				
PMM1	5372	broad.mit.edu	37	22	41980004	41980004	+	Missense_Mutation	SNP	A	A	T			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr22:41980004A>T	ENST00000216259.7	-	5	517	c.433T>A	c.(433-435)Tgc>Agc	p.C145S	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	145					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						TCCAGGGTGCAGCTCCGGCCG	0.567																																						ENST00000216259.7																			0				NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						c.(433-435)Tgc>Agc		phosphomannomutase 1							117.0	102.0	107.0					22																	41980004		2203	4300	6503	SO:0001583	missense	5372				dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	g.chr22:41980004A>T		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.433T>A	22.37:g.41980004A>T	ENSP00000216259:p.Cys145Ser					PMM1_ENST00000466645.1_5'UTR	p.C145S	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN			5	517	-			145					A8K003|Q92586	Missense_Mutation	SNP	ENST00000216259.7	37	c.433T>A	CCDS14020.1	.	.	.	.	.	.	.	.	.	.	A	35	5.444568	0.96187	.	.	ENSG00000100417	ENST00000216259	D	0.98567	-5.0	5.41	5.41	0.78517	HAD-like domain (1);	0.133103	0.64402	D	0.000001	D	0.98381	0.9462	M	0.93328	3.405	0.80722	D	1	P	0.46457	0.878	B	0.43575	0.424	D	0.99157	1.0860	10	0.66056	D	0.02	-12.5688	15.4426	0.75200	1.0:0.0:0.0:0.0	.	145	Q92871	PMM1_HUMAN	S	145	ENSP00000216259:C145S	ENSP00000216259:C145S	C	-	1	0	PMM1	40309950	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.196000	0.94978	2.052000	0.61016	0.460000	0.39030	TGC		0.567	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320711.3	NM_002676		9	59	0	0	0	1	0	9	59				
RPL32P3	132241	broad.mit.edu	37	3	129116292	129116292	+	RNA	SNP	A	A	C	rs562734605	byFrequency	TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr3:129116292A>C	ENST00000514355.1	-	0	412				SNORA7B_ENST00000384360.1_RNA					ribosomal protein L32 pseudogene 3											lung(1)	1						AGCAAATCCCACCCTGCCAGT	0.512													a|||	475	0.0948482	0.0605	0.1643	5008	,	,		19602	0.127		0.1402	False		,,,				2504	0.0123					ENST00000514355.1																			0				lung(1)	1																																														132241							g.chr3:129116292A>C	AK096589, AL117606		3q21.3	2014-03-20			ENSG00000251474	ENSG00000251474			27024	pseudogene	pseudogene						12477932	Standard	NR_003111		Approved		uc003ema.4		OTTHUMG00000159465		3.37:g.129116292A>C														0	412	-									RNA	SNP	ENST00000514355.1	37																																																																																						0.512	RPL32P3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000355880.1			6	28	0	0	0	1	0	6	28				
ZNF8	7554	broad.mit.edu	37	19	58797161	58797161	+	Missense_Mutation	SNP	C	C	A			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr19:58797161C>A	ENST00000196548.5	+	2	276	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.L49I|CTD-3138B18.4_ENST00000600029.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CCAGAGGATCCTCTACCGTGA	0.537																																						ENST00000196548.5																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19						c.(145-147)Ctc>Atc		zinc finger protein 8							182.0	166.0	171.0					19																	58797161		2203	4300	6503	SO:0001583	missense	7554				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58797161C>A	M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.145C>A	19.37:g.58797161C>A	ENSP00000196548:p.Leu49Ile					CTD-3138B18.4_ENST00000600029.1_3'UTR|AC010642.1_ENST00000591325.1_3'UTR	p.L49I	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)	2	276	+		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)	49			KRAB.		Q6PI99	Missense_Mutation	SNP	ENST00000196548.5	37	c.145C>A	CCDS12974.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.464016	0.63513	.	.	ENSG00000083842	ENST00000196548	T	0.05081	3.5	4.12	4.12	0.48240	Krueppel-associated box (4);	0.000000	0.34268	N	0.004115	T	0.26846	0.0657	M	0.91872	3.25	0.25112	N	0.990706	D	0.61697	0.99	D	0.64877	0.93	T	0.11372	-1.0590	10	0.87932	D	0	-26.5681	9.4557	0.38753	0.2117:0.7883:0.0:0.0	.	49	P17098	ZNF8_HUMAN	I	49	ENSP00000196548:L49I	ENSP00000196548:L49I	L	+	1	0	ZNF8	63488973	0.656000	0.27385	0.927000	0.36925	0.832000	0.47134	1.822000	0.39052	2.281000	0.76405	0.561000	0.74099	CTC		0.537	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000459135.1	NM_021089		4	78	1	0	0.00909568	1	0.00938909	4	78				
NFATC1	4772	broad.mit.edu	37	18	77170440	77170440	+	Silent	SNP	C	C	T			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr18:77170440C>T	ENST00000427363.2	+	2	165	c.165C>T	c.(163-165)gcC>gcT	p.A55A	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Silent_p.A55A|NFATC1_ENST00000591814.1_Silent_p.A55A|NFATC1_ENST00000329101.4_Silent_p.A42A|NFATC1_ENST00000587635.1_Silent_p.A55A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Silent_p.A55A|NFATC1_ENST00000318065.5_Silent_p.A42A|NFATC1_ENST00000586434.1_Silent_p.A42A|NFATC1_ENST00000592223.1_Silent_p.A42A			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	55					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	TCAGCCCCGCCCTGCCGCTCC	0.632																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(163-165)gcC>gcT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1							69.0	80.0	76.0					18																	77170440		2203	4300	6503	SO:0001819	synonymous_variant	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77170440C>T	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.165C>T	18.37:g.77170440C>T						NFATC1_ENST00000586434.1_Silent_p.A42A|NFATC1_ENST00000329101.4_Silent_p.A42A|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Silent_p.A55A|NFATC1_ENST00000427363.2_Silent_p.A55A|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Silent_p.A55A|NFATC1_ENST00000318065.5_Silent_p.A42A|NFATC1_ENST00000592223.1_Silent_p.A42A|NFATC1_ENST00000591814.1_Silent_p.A55A	p.A55A	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	534	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	55					B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	ENST00000427363.2	37	c.165C>T																																																																																					0.632	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		5	80	0	0	0	1	0	5	80				
HLA-DRB6	3128	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGAAAATAGGATTGGGAGAGTA	0.475																																						ENST00000411500.1																			0																																																			3128							g.chr6:32522379_32522380insC	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522379_32522380insC								NR_001298.1						0	740	-									RNA	INS	ENST00000411500.1	37																																																																																						0.475	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		5	11						5	11	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					ENST00000298532.2																			2	Deletion - In frame(2)	p.S542delS(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1624-1626)del		small nuclear RNA activating complex, polypeptide 4, 190kDa																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1992_1994	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		3	5						3	5	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			388165							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		3	2						3	2	---	---	---	---
NKD1	85407	broad.mit.edu	37	16	50667639	50667641	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr16:50667639_50667641delCAC	ENST00000268459.3	+	10	1584_1586	c.1360_1362delCAC	c.(1360-1362)cacdel	p.H458del		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	458	His-rich.				eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAGACATGAGcaccaccaccacc	0.655																																						ENST00000268459.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(1360-1362)del		naked cuticle homolog 1 (Drosophila)				10,3458		0,10,1724						-2.2	1.0			25	29,7075		0,29,3523	no	coding	NKD1	NM_033119.4		0,39,5247	A1A1,A1R,RR		0.4082,0.2884,0.3689				39,10533				SO:0001651	inframe_deletion	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50667639_50667641delCAC	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.1360_1362delCAC	16.37:g.50667648_50667650delCAC	ENSP00000268459:p.His458del						p.H458del	NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	10	1584_1586	+		all_cancers(37;0.229)	458			His-rich.		B2RC39|Q8WZ08	In_Frame_Del	DEL	ENST00000268459.3	37	c.1360_1362delCAC	CCDS10743.1																																																																																				0.655	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1			2	4						2	4	---	---	---	---
CCDC155	147872	broad.mit.edu	37	19	49920666	49920668	+	In_Frame_Del	DEL	CTG	CTG	-	rs139882972		TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr19:49920666_49920668delCTG	ENST00000447857.3	+	20	1793_1795	c.1588_1590delCTG	c.(1588-1590)ctgdel	p.L536del		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	536	Poly-Leu.					chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TGTCCTGGGCctgctgctgctgc	0.65																																						ENST00000447857.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						c.(1588-1590)del		coiled-coil domain containing 155				2,210,3744		1,0,0,70,70,1837						-4.5	0.9		dbSNP_134	52	8,291,7573		1,0,6,67,157,3705	no	codingComplex	CCDC155	NM_144688.4		2,0,6,137,227,5542	A1A1,A1A2,A1R,A2A2,A2R,RR		3.7983,5.3589,4.3203				10,501,11317				SO:0001651	inframe_deletion	147872					integral to membrane	calcium ion binding	g.chr19:49920666_49920668delCTG		CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1588_1590delCTG	19.37:g.49920675_49920677delCTG	ENSP00000404220:p.Leu536del						p.L536del	NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN			20	1793_1795	+			536			Poly-Leu.		Q96MC3	In_Frame_Del	DEL	ENST00000447857.3	37	c.1588_1590delCTG	CCDS46140.1																																																																																				0.650	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465436.2	NM_144688		3	3						3	3	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-	rs201012227|rs570464638	byFrequency	TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CTCTGTGCTTTCTGATGTGCTGCT	0.407														730	0.145767	0.174	0.121	5008	,	,		17936	0.1806		0.0924	False		,,,				2504	0.1442					ENST00000344693.5																			0																																																			391267							g.chr21:15343746_15343749delTCTG			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343746_15343749delTCTG								NR_027270.1						0	736	-									RNA	DEL	ENST00000344693.5	37																																																																																						0.407	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			4	2						4	2	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578866	154578866	+	RNA	DEL	T	T	-			TCGA-TT-A6YK-01A-11D-A35I-08	TCGA-TT-A6YK-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0811ea07-4dc7-4aff-9a19-7bd397ba2f48	591b0920-7e11-4561-aa5f-62d0a4f4d723	g.chrX:154578866delT	ENST00000412436.1	-	0	98				RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA																							TTTCTCTCTGTTTTTTTTTTT	0.418														73	0.0193377	0.0121	0.0086	3775	,	,		10483	0.0139		0.0149	False		,,,				2504	0.0225					ENST00000412436.1																			0																																																			0							g.chrX:154578866delT																													X.37:g.154578866delT						RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			5	10						5	10	---	---	---	---
